Genetic Distance (cM)	Physical Distance (bp)	LOD score	Human_symbol	Ensemble ID	Approved Name	Genomic Coordinate	Function Description	Human Disease	KO Mouse Phenotype	Pathway	Biological Process	Cellular Component	Molecular Function	GeneCards	UniprotKB	HPO	OMIM	MGI	PubMed
10_101.305_148.305	Chr10:78740262-120743937	1.191	ABCC2	ENSG00000023839	ATP binding cassette subfamily C member 2	chr10:101542489-101611949	The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein is expressed in the canalicular (apical) part of the hepatocyte and functions in biliary transport. Substrates include anticancer drugs such as vinblastine; therefore, this protein appears to contribute to drug resistance in mammalian cells. Several different mutations in this gene have been observed in patients with Dubin-Johnson syndrome (DJS), an autosomal recessive disorder characterized by conjugated hyperbilirubinemia. [provided by RefSeq, Jul 2008]	Fatty Liver|; leukemia methotrexate pharmacokinetics; bilirubin indinavir oral clearance lamivudine-triphosphate concentration zidovudine-triphosphate concentration; Body Weight; drug-related genes ; bilirubin; hepatotoxicity, diclofenac-induced; Cholestasis, Intrahepatic|Intrahepatic Cholestasis|Pregnancy Complications; irinotecan pharmacokinetics; mycophenolic acid; kidney disease; breast cancer; Leukemia, Myeloid, Chronic-Phase; null; Drug Toxicity|Epilepsy; Colorectal Neoplasms|Neutropenia; breast cancer ; low MPA exposure and acute rejection in MMF/tacrolimus-treated kidney transplant patients; Leukopenia|Neutropenia; lung cancer; Alzheimer's disease ; delayed renal graft function; metabolite of mycophenolic acid; pharmacogenetic studies; telmisartan; hepatitis, toxic; Diarrhea; colorectal cancer; esophageal adenocarcinoma; Cholestasis, Intrahepatic|Pregnancy Complications; Colonic Neoplasms|Peripheral Nervous System Diseases; normal variation; simvastatin pharmacokinetics talinol pharmacokinetics; ovarian cancer; pravastatin kinetics; mycophenolate mofetil ; pravastatin pharmcokinetics; Epilepsy; lopinavir accumulation; irinotecan pharmacokinetics irinotecan toxicity lung cancer; Chronic renal failure|Kidney Failure, Chronic; mycophenolic acid pharmacokinetics; cancer; pharmacogenetics of cyclosporine; Epilepsy|; nelfinavir pharmacokinetics; pravastatin ; HIV Infections|Kidney Failure; Bile Duct Neoplasms|Cholangiocarcinoma|; pruritis; lung cancer ; chronic obstructive pulmonary disease; irinotecan-related diarrhea; drug metabolism; mycophenolate mofetil; Adenocarcinoma|Pancreatic Neoplasms; docetaxel elimination; 9-aminocamptothecin pharmacokinetics 9-nitrocamptothecin pharmacokinetics; cardiotoxicity, anthracycline-induced; Epilepsies, Partial; bladder cancer; Arthritis, Rheumatoid|	Mice homozygous for disruptions in this gene have moderately enlarged livers, elevated plasma and urine bilirubin, and a reduced ability to clear various drugs and carcinogens from the blood.	ABC-family proteins mediated transport	GO:0006810;transport;TAS|GO:0006855;drug transmembrane transport;IEA|GO:0006979;response to oxidative stress;IEA|GO:0007565;female pregnancy;IEA|GO:0009408;response to heat;IEA|GO:0015694;mercury ion transport;IEA|GO:0015711;organic anion transport;IEA|GO:0015722;canalicular bile acid transport;IEA|GO:0015723;bilirubin transport;IEA|GO:0015732;prostaglandin transport;IEA|GO:0016999;antibiotic metabolic process;IEA|GO:0030644;cellular chloride ion homeostasis;IEA|GO:0031427;response to methotrexate;IEA|GO:0032870;cellular response to hormone stimulus;IBA|GO:0042493;response to drug;IEA|GO:0043627;response to estrogen;IEA|GO:0046685;response to arsenic-containing substance;IEA|GO:0048545;response to steroid hormone;IEA|GO:0055085;transmembrane transport;TAS|GO:0070327;thyroid hormone transport;IEA|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:0071347;cellular response to interleukin-1;IEA|GO:0071354;cellular response to interleukin-6;IEA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0071549;cellular response to dexamethasone stimulus;IEA|GO:0097327;response to antineoplastic agent;IEA|GO:0099133;ATP hydrolysis coupled anion transmembrane transport;IEA|GO:1901086;benzylpenicillin metabolic process;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IEA|GO:0031526;brush border membrane;IEA|GO:0046581;intercellular canaliculus;IEA	GO:0000166;nucleotide binding;IEA|GO:0005215;transporter activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008514;organic anion transmembrane transporter activity;TAS|GO:0015127;bilirubin transmembrane transporter activity;TAS|GO:0016887;ATPase activity;IEA|GO:0019904;protein domain specific binding;IEA|GO:0042626;ATPase activity, coupled to transmembrane movement of substances;TAS|GO:0043225;ATPase-coupled anion transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ABCC2	https://www.uniprot.org/uniprot/Q92887	https://hpo.jax.org/app/browse/search?q=ABCC2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601107	http://www.informatics.jax.org/searchtool/Search.do?query=ABCC2&submit=Quick%0D%689ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABCC2
10_101.305_148.305	Chr10:78740262-120743937	1.191	ABLIM1	ENSG00000099204	actin binding LIM protein 1	chr10:116190872-116444762	This gene encodes a cytoskeletal LIM protein that binds to actin filaments via a domain that is homologous to erythrocyte dematin. LIM domains, found in over 60 proteins, play key roles in the regulation of developmental pathways. LIM domains also function as protein-binding interfaces, mediating specific protein-protein interactions. The protein encoded by this gene could mediate such interactions between actin filaments and cytoplasmic targets. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]	Alzheimer's disease ; Arthritis, Rheumatoid|Coronary Artery Disease|Crohn Disease|Crohn's disease|Diabetes mellitus type II|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Hypertension|Rheumatoid Arthritis	Mutant mice lacking the retina-specific isoform are healthy, fertile, and show no defects in retinal development or retinofugal projections.	DCC mediated attractive signaling	GO:0007010;cytoskeleton organization;IEA|GO:0007601;visual perception;TAS|GO:0009887;animal organ morphogenesis;TAS|GO:0030032;lamellipodium assembly;IMP|GO:0060271;cilium assembly;IMP	GO:0001725;stress fiber;IDA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0015629;actin cytoskeleton;TAS|GO:0030027;lamellipodium;IDA	GO:0003779;actin binding;TAS|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ABLIM1	https://www.uniprot.org/uniprot/O14639		https://www.ncbi.nlm.nih.gov/omim/?term=602330	http://www.informatics.jax.org/searchtool/Search.do?query=ABLIM1&submit=Quick%0D%2299ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ABLIM1
2_252.744_266.744	Chr2:235528138-241561721	0.223	ACKR3	ENSG00000144476	atypical chemokine receptor 3	chr2:237476430-237491001	This gene encodes a member of the G-protein coupled receptor family. Although this protein was earlier thought to be a receptor for vasoactive intestinal peptide (VIP), it is now considered to be an orphan receptor, in that its endogenous ligand has not been identified. The protein is also a coreceptor for human immunodeficiency viruses (HIV). Translocations involving this gene and HMGA2 on chromosome 12 have been observed in lipomas. [provided by RefSeq, Jul 2008]	Platelet Count; HIV	Most homozygous null mutations result in perinatal lethality with cardiac defects including semilunar valve defects.	G alpha (i) signalling events	GO:0001525;angiogenesis;IEA|GO:0001570;vasculogenesis;IEA|GO:0006935;chemotaxis;IEA|GO:0007155;cell adhesion;IEA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0016032;viral process;IEA|GO:0031623;receptor internalization;IMP|GO:0070098;chemokine-mediated signaling pathway;IMP|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IMP|GO:1902230;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage;IMP|GO:1905322;positive regulation of mesenchymal stem cell migration;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IDA|GO:0005769;early endosome;IEA|GO:0005886;plasma membrane;TAS|GO:0005905;clathrin-coated pit;IDA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0055037;recycling endosome;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0005044;scavenger receptor activity;IMP|GO:0005515;protein binding;IPI|GO:0015026;coreceptor activity;IEA|GO:0016494;C-X-C chemokine receptor activity;IMP|GO:0019956;chemokine binding;IEA|GO:0019958;C-X-C chemokine binding;IMP	http://www.genecards.org/index.php?path=/Search/keyword/ACKR3	https://www.uniprot.org/uniprot/P25106		https://www.ncbi.nlm.nih.gov/omim/?term=610376	http://www.informatics.jax.org/searchtool/Search.do?query=ACKR3&submit=Quick%0D%8612ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACKR3
10_101.305_148.305	Chr10:78740262-120743937	1.191	ACSL5	ENSG00000197142	acyl-CoA synthetase long chain family member 5	chr10:114133776-114188138	The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme is highly expressed in uterus and spleen, and in trace amounts in normal brain, but has markedly increased levels in malignant gliomas. This gene functions in mediating fatty acid-induced glioma cell growth. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Alzheimer's disease ; weight loss; Acquired Immunodeficiency Syndrome|Disease Progression; Tobacco Use Disorder	Homozygous mutant mice exhibit decreased mean bone mineral content and density measurements when compared with controls. A notably decreased mean platelet count is also observed.	Synthesis of very long-chain fatty acyl-CoAs	GO:0001676;long-chain fatty acid metabolic process;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0008152;metabolic process;IEA|GO:0035338;long-chain fatty-acyl-CoA biosynthetic process;TAS	GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005739;mitochondrion;IDA|GO:0005741;mitochondrial outer membrane;IEA|GO:0005743;mitochondrial inner membrane;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004467;long-chain fatty acid-CoA ligase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016874;ligase activity;IEA|GO:0102391;decanoate--CoA ligase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACSL5			https://www.ncbi.nlm.nih.gov/omim/?term=605677	http://www.informatics.jax.org/searchtool/Search.do?query=ACSL5&submit=Quick%0D%16557ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACSL5
10_101.305_148.305	Chr10:78740262-120743937	1.191	ACTA2	ENSG00000107796	actin, alpha 2, smooth muscle, aorta	chr10:90694831-90751147	The protein encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Defects in this gene cause aortic aneurysm familial thoracic type 6. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2008]	Heart Rate; Alzheimer's disease ; Type 2 Diabetes| edema | rosiglitazone; Aneurysm, Dissecting|Aortic Aneurysm, Thoracic|Loeys-Dietz Syndrome|Marfan Syndrome; Lung Neoplasms	Mice homozygous for a knock-out allele exhibit impaired vascular contractility and blood pressure homeostasis, increased blood-retina barrier permeability, and reduced retinal cone and rod function.	Smooth Muscle Contraction	GO:0006936;muscle contraction;TAS|GO:0008217;regulation of blood pressure;IEA|GO:0009615;response to virus;IEP|GO:0010628;positive regulation of gene expression;ISS|GO:0014829;vascular smooth muscle contraction;IEA|GO:0072144;glomerular mesangial cell development;IEP|GO:0090131;mesenchyme migration;ISS	GO:0005615;extracellular space;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0015629;actin cytoskeleton;IEA|GO:0030027;lamellipodium;ISS|GO:0030175;filopodium;ISS|GO:0030485;smooth muscle contractile fiber;IEA|GO:0043234;protein complex;IDA|GO:0044297;cell body;ISS|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA|GO:0019901;protein kinase binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/ACTA2	https://www.uniprot.org/uniprot/P62736	https://hpo.jax.org/app/browse/search?q=ACTA2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=102620	http://www.informatics.jax.org/searchtool/Search.do?query=ACTA2&submit=Quick%0D%3637ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACTA2
10_101.305_148.305	Chr10:78740262-120743937	1.191	ACTR1A	ENSG00000138107	ARP1 actin related protein 1 homolog A	chr10:104238986-104262482	This gene encodes a 42.6 kD subunit of dynactin, a macromolecular complex consisting of 10-11 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. It is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit is present in 8-13 copies per dynactin molecule, and is the most abundant molecule in the dynactin complex. It is an actin-related protein, and is approximately 60% identical at the amino acid level to conventional actin. [provided by RefSeq, Jul 2008]		 	AURKA Activation by TPX2	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0007283;spermatogenesis;IEA|GO:0016192;vesicle-mediated transport;TAS|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0097711;ciliary basal body docking;TAS	GO:0002177;manchette;IEA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005869;dynactin complex;IEA|GO:0005875;microtubule associated complex;TAS|GO:0015630;microtubule cytoskeleton;IDA|GO:0030137;COPI-coated vesicle;IEA|GO:0043209;myelin sheath;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ACTR1A	https://www.uniprot.org/uniprot/P61163		https://www.ncbi.nlm.nih.gov/omim/?term=605143	http://www.informatics.jax.org/searchtool/Search.do?query=ACTR1A&submit=Quick%0D%7675ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ACTR1A
10_101.305_148.305	Chr10:78740262-120743937	1.191	ADD3	ENSG00000148700	adducin 3	chr10:111756126-111895323	Adducins are heteromeric proteins composed of different subunits referred to as adducin alpha, beta and gamma. The three subunits are encoded by distinct genes and belong to a family of membrane skeletal proteins involved in the assembly of spectrin-actin network in erythrocytes and at sites of cell-cell contact in epithelial tissues. While adducins alpha and gamma are ubiquitously expressed, the expression of adducin beta is restricted to brain and hematopoietic tissues. Adducin, originally purified from human erythrocytes, was found to be a heterodimer of adducins alpha and beta. Polymorphisms resulting in amino acid substitutions in these two subunits have been associated with the regulation of blood pressure in an animal model of hypertension. Heterodimers consisting of alpha and gamma subunits have also been described. Structurally, each subunit is comprised of two distinct domains. The amino-terminal region is protease resistant and globular in shape, while the carboxy-terminal region is protease sensitive. The latter contains multiple phosphorylation sites for protein kinase C, the binding site for calmodulin, and is required for association with spectrin and actin. Alternatively spliced adducin gamma transcripts encoding different isoforms have been described. The functions of the different isoforms are not known. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder; Endolymphatic Hydrops|Meniere Disease; Macular Degeneration; arterial stiffness; null; Hypertension; hypertension; Alzheimer's disease 	Mice homozygous for a knock-out allele exhibit normal blood pressure and show no significant alterations in red blood cell or platelet structure and function.	Miscellaneous transport and binding events	GO:0007010;cytoskeleton organization;IEA|GO:0055085;transmembrane transport;TAS	GO:0000794;condensed nuclear chromosome;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005903;brush border;IEA|GO:0005911;cell-cell junction;IEA|GO:0005938;cell cortex;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;TAS	GO:0003779;actin binding;IEA|GO:0005198;structural molecule activity;IEA|GO:0005200;structural constituent of cytoskeleton;TAS|GO:0005516;calmodulin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADD3	https://www.uniprot.org/uniprot/Q9UEY8	https://hpo.jax.org/app/browse/search?q=ADD3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601568	http://www.informatics.jax.org/searchtool/Search.do?query=ADD3&submit=Quick%0D%9149ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADD3
10_101.305_148.305	Chr10:78740262-120743937	1.191	ADIRF	ENSG00000148671	adipogenesis regulatory factor	chr10:88727949-88743691	APM2 gene is exclusively expressed in adipose tissue. Its function is currently unknown. [provided by RefSeq, Jul 2008]	Alzheimer's disease 	 	Transcriptional regulation of white adipocyte differentiation	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0030154;cell differentiation;IEA|GO:0045600;positive regulation of fat cell differentiation;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0071478;cellular response to radiation;IDA|GO:0072719;cellular response to cisplatin;IDA|GO:2001023;regulation of response to drug;IDA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005829;cytosol;IDA|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/ADIRF	https://www.uniprot.org/uniprot/Q15847			http://www.informatics.jax.org/searchtool/Search.do?query=ADIRF&submit=Quick%0D%9143ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADIRF
22_4.194_23.194	Chr22:17733575-25291782	0.374	ADORA2A	ENSG00000128271	adenosine A2a receptor	chr22:24813847-24838328	This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor (GPCR) superfamily, which is subdivided into classes and subtypes. The receptors are seven-pass transmembrane proteins that respond to extracellular cues and activate intracellular signal transduction pathways. This protein, an adenosine receptor of A2A subtype, uses adenosine as the preferred endogenous agonist and preferentially interacts with the G(s) and G(olf) family of G proteins to increase intracellular cAMP levels. It plays an important role in many biological functions, such as cardiac rhythm and circulation, cerebral and renal blood flow, immune function, pain regulation, and sleep. It has been implicated in pathophysiological conditions such as inflammatory diseases and neurodegenerative disorders. Alternative splicing results in multiple transcript variants. A read-through transcript composed of the upstream SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1-like) and ADORA2A (adenosine A2a receptor) gene sequence has been identified, but it is thought to be non-coding. [provided by RefSeq, Jun 2013]	atherosclerosis; sleep disorders; panic disorder; Arthritis, Rheumatoid|; Headache|Substance Withdrawal Syndrome|[D]Pain in head NOS; Autism; caffeine consumption; Fatigue|Sleep Disorders|Sleep Initiation and Maintenance Disorders; Bulimia; antipsychotic response | Weight Gain; anxiety disorder; anxiety response; migraine migraine with aura; attention deficit disorder conduct disorder oppositional defiant disorder; Chronic progressive chorea|Huntington Disease; Parkinson's disease ; mood disorder; Arthritis, Rheumatoid; BMI- Edema rosiglitazone or pioglitazone; Asthma|Drug Hypersensitivity|; Syncope; hypertension; Amphetamine-Related Disorders|Psychoses, Substance-Induced; panic disorder and anxious personality; caffeine-induced anxiety.; Schizophrenia; Type 2 Diabetes| edema | rosiglitazone; several psychiatric disorders; Huntington Disease	Mice homozygous for targeted mutations that inactivate the gene are viable and fertile with reduced exploratory activity and displaying depressive rather than stimulatory response to caffeine. Mutants test more anxious, were more aggressive towards intruders, and slower to respond to pain stimuli. Blood pressure and heart rate are increased, as well as platelet aggregation rate.	Surfactant metabolism	GO:0001963;synaptic transmission, dopaminergic;IEA|GO:0001973;adenosine receptor signaling pathway;IEA|GO:0001975;response to amphetamine;IEA|GO:0006171;cAMP biosynthetic process;TAS|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006469;negative regulation of protein kinase activity;IEA|GO:0006909;phagocytosis;TAS|GO:0006915;apoptotic process;TAS|GO:0006954;inflammatory response;TAS|GO:0006968;cellular defense response;TAS|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007188;adenylate cyclase-modulating G-protein coupled receptor signaling pathway;TAS|GO:0007189;adenylate cyclase-activating G-protein coupled receptor signaling pathway;IEA|GO:0007205;protein kinase C-activating G-protein coupled receptor signaling pathway;IEA|GO:0007267;cell-cell signaling;TAS|GO:0007271;synaptic transmission, cholinergic;IEA|GO:0007417;central nervous system development;TAS|GO:0007596;blood coagulation;TAS|GO:0007600;sensory perception;TAS|GO:0007626;locomotory behavior;IEA|GO:0008015;blood circulation;TAS|GO:0008285;negative regulation of cell proliferation;IEA|GO:0010579;positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway;IDA|GO:0014049;positive regulation of glutamate secretion;IEA|GO:0014057;positive regulation of acetylcholine secretion, neurotransmission;IEA|GO:0014061;regulation of norepinephrine secretion;IEA|GO:0030819;positive regulation of cAMP biosynthetic process;IEA|GO:0031000;response to caffeine;IEA|GO:0032230;positive regulation of synaptic transmission, GABAergic;IEA|GO:0035249;synaptic transmission, glutamatergic;IEA|GO:0035810;positive regulation of urine volume;IEA|GO:0035815;positive regulation of renal sodium excretion;IEA|GO:0040013;negative regulation of locomotion;IEA|GO:0042311;vasodilation;IEA|GO:0042493;response to drug;IEA|GO:0042755;eating behavior;IEA|GO:0043116;negative regulation of vascular permeability;IEA|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0043279;response to alkaloid;IEA|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0044267;cellular protein metabolic process;TAS|GO:0045938;positive regulation of circadian sleep/wake cycle, sleep;IEA|GO:0046636;negative regulation of alpha-beta T cell activation;IEA|GO:0048143;astrocyte activation;IEA|GO:0048167;regulation of synaptic plasticity;IEA|GO:0048812;neuron projection morphogenesis;IEA|GO:0050714;positive regulation of protein secretion;IEA|GO:0050728;negative regulation of inflammatory response;IEA|GO:0051881;regulation of mitochondrial membrane potential;IEA|GO:0051899;membrane depolarization;IEA|GO:0051924;regulation of calcium ion transport;IEA|GO:0051968;positive regulation of synaptic transmission, glutamatergic;IEA|GO:0060079;excitatory postsynaptic potential;IEA|GO:0060080;inhibitory postsynaptic potential;IEA|GO:0060134;prepulse inhibition;IEA|GO:2001235;positive regulation of apoptotic signaling pathway;IEA	GO:0005882;intermediate filament;IEA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;TAS|GO:0012505;endomembrane system;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0030673;axolemma;IEA|GO:0032279;asymmetric synapse;IEA|GO:0042734;presynaptic membrane;IEA|GO:0043025;neuronal cell body;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0048786;presynaptic active zone;IEA	GO:0001609;G-protein coupled adenosine receptor activity;IEA|GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI|GO:0031802;type 5 metabotropic glutamate receptor binding;IEA|GO:0042802;identical protein binding;IPI|GO:0046982;protein heterodimerization activity;IEA|GO:0051393;alpha-actinin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ADORA2A	https://www.uniprot.org/uniprot/P29274		https://www.ncbi.nlm.nih.gov/omim/?term=102776	http://www.informatics.jax.org/searchtool/Search.do?query=ADORA2A&submit=Quick%0D%6115ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADORA2A
10_101.305_148.305	Chr10:78740262-120743937	1.191	ADRA2A	ENSG00000150594	adrenoceptor alpha 2A	chr10:112836790-112840658	Alpha-2-adrenergic receptors are members of the G protein-coupled receptor superfamily. They include 3 highly homologous subtypes: alpha2A, alpha2B, and alpha2C. These receptors have a critical role in regulating neurotransmitter release from sympathetic nerves and from adrenergic neurons in the central nervous system. Studies in mouse revealed that both the alpha2A and alpha2C subtypes were required for normal presynaptic control of transmitter release from sympathetic nerves in the heart and from central noradrenergic neurons; the alpha2A subtype inhibited transmitter release at high stimulation frequencies, whereas the alpha2C subtype modulated neurotransmission at lower levels of nerve activity. This gene encodes alpha2A subtype and it contains no introns in either its coding or untranslated sequences. [provided by RefSeq, Jul 2008]	attention deficit disorder conduct disorder oppositional defiant disorder; Irritable Bowel Syndrome; Sleep Apnea, Obstructive; suicide; depression; motion sickness; Tunica Media; attention deficit hyperactivity disorder; weight gain; Type 2 Diabetes| edema | rosiglitazone; Coronary Artery Disease; von Willebrand factor levels; Hemorrhagic Disorders; Obesity, Morbid; Autism; Weight Gain; alcohol dependence smoking behavior; blood pressure; heart rate; body mass; insulin; lipids; obesity; glucose; blood pressure; cortisol, salivary; leptin; leptin; testosterone; Acute Coronary Syndrome; Metabolic Syndrome X; Bulimia; Hypertension; Attention Deficit Disorder with Hyperactivity; weight loss; ADHD | attention-deficit hyperactivity disorder; Glucose Transporter Type 2; left ventricular ejection fraction troponin, cardiac; BMI- Edema rosiglitazone or pioglitazone; temperament; idiopathic orthostatic intolerance; hypertension; Platelet Aggregation; body mass; Obesity|Overweight|Weight Loss; Colitis, Ulcerative|Irritable Bowel Syndrome; fasting glucose-related traits ; Liver Cirrhosis; Low Tension Glaucoma; blood pressure, arterial; blood pressure, arterial heart rate norepinephrine; Hypercholesterolemia|LDLC levels; Alzheimer's Disease; platelet function; Tourette syndrome; attention deficit hyperactivity disorder; reading disability; cortisol escape from dexamethasone and elevated glucose levels; response to antidepressants; Ache, Low Back|Acute Disease|Low Back Pain|Pain|Sciatica; obesity; hyperuicemia; alcohol consumption; depression; Parkinson's disease; schizophrenia; tardive dyskinesia; gastrointestinal disorders; ADHD; smoking; schizophrenia; suicide; Parkinson's disease; Adiposity and Abdominal Obesity; several psychiatric disorders; Type 2 diabetes; aortic compliance blood pressure, arterial cardiac output heart rate hypertension left ventricular mass systemic vascular resistance; endurance; kidney aging; dyspepsia; autonomic nervous system function; null; Schizophrenia; Alzheimer's disease ; Glucose Tolerance Test; blood pressure; glucose-stimulated beta cell function; irritability hostility impulsivity and memory; Cholesterol, HDL; cognitive ability	Mice homozygous for targeted mutations that inactivate the gene fail to produce hypotensive responsiveness to alpha2AR agonists, including failure to inhibit voltage-gated Ca2+ currents and spontaneous neuronal firing.	Surfactant metabolism	GO:0001819;positive regulation of cytokine production;IDA|GO:0006928;movement of cell or subcellular component;TAS|GO:0006940;regulation of smooth muscle contraction;IEA|GO:0007165;signal transduction;TAS|GO:0007186;G-protein coupled receptor signaling pathway;ISS|GO:0007194;negative regulation of adenylate cyclase activity;ISS|GO:0007265;Ras protein signal transduction;TAS|GO:0007266;Rho protein signal transduction;TAS|GO:0008284;positive regulation of cell proliferation;TAS|GO:0010700;negative regulation of norepinephrine secretion;NAS|GO:0019229;regulation of vasoconstriction;IEA|GO:0030036;actin cytoskeleton organization;TAS|GO:0030168;platelet activation;IEA|GO:0030335;positive regulation of cell migration;IMP|GO:0030818;negative regulation of cAMP biosynthetic process;IDA|GO:0032147;activation of protein kinase activity;IDA|GO:0032148;activation of protein kinase B activity;IDA|GO:0032811;negative regulation of epinephrine secretion;NAS|GO:0032870;cellular response to hormone stimulus;IGI|GO:0035625;epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway;IDA|GO:0042593;glucose homeostasis;IMP|GO:0043268;positive regulation of potassium ion transport;ISS|GO:0043406;positive regulation of MAP kinase activity;IDA|GO:0045741;positive regulation of epidermal growth factor-activated receptor activity;IDA|GO:0045955;negative regulation of calcium ion-dependent exocytosis;IC|GO:0046676;negative regulation of insulin secretion;IMP|GO:0050796;regulation of insulin secretion;TAS|GO:0050892;intestinal absorption;TAS|GO:0050995;negative regulation of lipid catabolic process;IGI|GO:0051044;positive regulation of membrane protein ectodomain proteolysis;IDA|GO:0051926;negative regulation of calcium ion transport;ISS|GO:0061179;negative regulation of insulin secretion involved in cellular response to glucose stimulus;IMP|GO:0071878;negative regulation of adrenergic receptor signaling pathway;ISS|GO:0071880;adenylate cyclase-activating adrenergic receptor signaling pathway;IBA|GO:0071881;adenylate cyclase-inhibiting adrenergic receptor signaling pathway;IDA|GO:0071882;phospholipase C-activating adrenergic receptor signaling pathway;IDA|GO:0071883;activation of MAPK activity by adrenergic receptor signaling pathway;IDA|GO:0090303;positive regulation of wound healing;IMP|GO:1901020;negative regulation of calcium ion transmembrane transporter activity;ISS	GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;TAS|GO:0043235;receptor complex;IDA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004935;adrenergic receptor activity;IEA|GO:0004938;alpha2-adrenergic receptor activity;IDA|GO:0005515;protein binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0031692;alpha-1B adrenergic receptor binding;ISS|GO:0031696;alpha-2C adrenergic receptor binding;IPI|GO:0031996;thioesterase binding;IPI|GO:0032795;heterotrimeric G-protein binding;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0046982;protein heterodimerization activity;IPI|GO:0051379;epinephrine binding;IDA|GO:0051380;norepinephrine binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ADRA2A	https://www.uniprot.org/uniprot/P08913		https://www.ncbi.nlm.nih.gov/omim/?term=104210	http://www.informatics.jax.org/searchtool/Search.do?query=ADRA2A&submit=Quick%0D%9330ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADRA2A
10_101.305_148.305	Chr10:78740262-120743937	1.191	ADRB1	ENSG00000043591	adrenoceptor beta 1	chr10:115803806-115806667	The adrenergic receptors (subtypes alpha 1, alpha 2, beta 1, and beta 2) are a prototypic family of guanine nucleotide binding regulatory protein-coupled receptors that mediate the physiological effects of the hormone epinephrine and the neurotransmitter norepinephrine. Specific polymorphisms in this gene have been shown to affect the resting heart rate and can be involved in heart failure. [provided by RefSeq, Jul 2008]	cardiovascular disease; Heart Failure|Ventricular Dysfunction, Left|Ventricular Remodeling; heart rate; left ventricular funtion; heart failure; Alzheimer's disease ; Syncope; Bulimia; depressive disorder, major; sudden infant death; angina, unstable cardiac death cerebrovascular disease, ischemic congestive heart failure heart rate myocardial infarct; Heart Failure; coronary heart disease; heart rate; left ventricular function; left ventricular ejection fraction; Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy; Type 2 Diabetes| edema | rosiglitazone; Hypertension|Nephrosclerosis; left ventricular hypertrophy; resting heart rate; Heart Failure|Myocardial Infarction; normal variation; body mass; Chronic renal failure|Hypertrophy, Left Ventricular|Kidney Failure, Chronic|Left Ventricular Hypertrophy|Ventricular Dysfunction, Left; nonfatal acute myocardial infarction; obesity; Meningococcal Infections; blood pressure, arterial hypertension; Cardiovascular Diseases|Myocardial Ischemia; Atrial Fibrillation|Hypertension; Coronary Disease|Hyperlipoproteinemia Type II; personality disorders; cardiomyopathy; heart failure; Cardiovascular Diseases|Sleep Apnea, Obstructive; Tachycardia, Ventricular; heart rate, resting; endurance performance; Cardiomyopathy, Dilated|; Glaucoma, Open-Angle; Heart Failure|Myocardial ischemia; Hemoglobins; left ventricular ejection fraction troponin, cardiac; Obesity; Obesity|Obesity, Morbid; myocardial infarct; timolol pharmacokinetics; hypertension; left ventricular hypertrophy; Coronary Artery Disease; Coronary Disease|Hypertension; acute coronary syndrome; Coronary Artery Disease|Death, Sudden, Cardiac|Tachycardia, Ventricular|Ventricular Fibrillation; Cardiovascular Diseases|Diabetic Nephropathies|Diabetic Nephropathy; Hypertension|Hypertrophy, Left Ventricular|Left Ventricular Hypertrophy; Atrial Fibrillation; blood pressure; heart rate; Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy|Heart Failure|Myocardial ischemia; Hyperlipidemias|Hypertension|Myocardial Infarction; hypertension; null; Cadaver|Cardiovascular Diseases|Death, Sudden, Cardiac|; several psychiatric disorders; Heart Failure|Tachycardia, Ventricular; Takotsubo Cardiomyopathy; obesity|hypertension; Hypertension; BMI- Edema rosiglitazone or pioglitazone; Long QT Syndrome; blood pressure, arterial; heart rate; adrenaline; coronary flow velocity; ECG; noradrenaline; Kidney Failure, Chronic; Alzheimer's disease; Chronic Obstructive Pulmonary Disease; betaxolol hydrochloride efficacy; antihypertensive response to metoprolol.; blood pressure, arterial; left ventricular remodeling; Hypertension|Myocardial Infarction|Stroke; ADHD | attention-deficit hyperactivity disorder; Glaucoma; Myocardial Infarction; Syncope, Vasovagal|Vasovagal syncope; Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy|Tachycardia, Ventricular; Low Tension Glaucoma; attention deficit disorder conduct disorder oppositional defiant disorder; pharmacogenetic studies; blood pressure, arterial; heart rate; sensitivity to beta(1)-adrenergic blockade; Sleep Apnea, Obstructive; body mass; obesity, localized; Diabetes Complications|Hypertrophy, Left Ventricular|Left Ventricular Hypertrophy|Myocardial Infarction; Coronary Disease|Myocardial Ischemia; reward dependence temperament; Tachycardia; congestive heart failure; Hypercholesterolemia|LDLC levels; cardiovascular response to metoprolol; Adiponectin; Syncope, Vasovagal; idiopathic orthostatic intolerance; Respiration Disorders; Hypertension|Occupational Diseases; Arrhythmias, Cardiac|Heart Failure; Hypertrophy, Left Ventricular|Left Ventricular Hypertrophy	Most mice homozygous for targeted mutations that inactivate the gene die prenatally, with the penetrance of lethality showing strain dependence. Surviving knockouts appear normal, but lack the chronotropic and inotropic responses seen in wild-type mice when beta-AR agonists such as isoproterenol are administered.	G alpha (s) signalling events	GO:0001659;temperature homeostasis;IBA|GO:0001996;positive regulation of heart rate by epinephrine-norepinephrine;IEA|GO:0001997;positive regulation of the force of heart contraction by epinephrine-norepinephrine;IEA|GO:0002024;diet induced thermogenesis;IEA|GO:0002025;norepinephrine-epinephrine-mediated vasodilation involved in regulation of systemic arterial blood pressure;IEA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007189;adenylate cyclase-activating G-protein coupled receptor signaling pathway;IEA|GO:0007190;activation of adenylate cyclase activity;TAS|GO:0007267;cell-cell signaling;IBA|GO:0009409;response to cold;IEA|GO:0030819;positive regulation of cAMP biosynthetic process;IDA|GO:0031649;heat generation;IEA|GO:0040015;negative regulation of multicellular organism growth;IEA|GO:0042596;fear response;IEA|GO:0043547;positive regulation of GTPase activity;IDA|GO:0043950;positive regulation of cAMP-mediated signaling;IDA|GO:0045823;positive regulation of heart contraction;IEA|GO:0050873;brown fat cell differentiation;IEA|GO:0071880;adenylate cyclase-activating adrenergic receptor signaling pathway;IDA	GO:0005768;endosome;IEA|GO:0005769;early endosome;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004935;adrenergic receptor activity;IEA|GO:0004939;beta-adrenergic receptor activity;TAS|GO:0004940;beta1-adrenergic receptor activity;TAS|GO:0005057;signal transducer activity, downstream of receptor;IDA|GO:0005088;Ras guanyl-nucleotide exchange factor activity;IDA|GO:0005515;protein binding;IPI|GO:0030165;PDZ domain binding;IPI|GO:0031694;alpha-2A adrenergic receptor binding;IPI|GO:0046982;protein heterodimerization activity;IPI|GO:0051379;epinephrine binding;IBA|GO:0051380;norepinephrine binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/ADRB1	https://www.uniprot.org/uniprot/P08588		https://www.ncbi.nlm.nih.gov/omim/?term=109630	http://www.informatics.jax.org/searchtool/Search.do?query=ADRB1&submit=Quick%0D%848ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ADRB1
10_101.305_148.305	Chr10:78740262-120743937	1.191	AFAP1L2	ENSG00000169129	actin filament associated protein 1 like 2	chr10:116054583-116164515		Alzheimer's disease ; Cognitive performance ; Hip; Alcoholism	 		GO:0006954;inflammatory response;IDA|GO:0007346;regulation of mitotic cell cycle;IDA|GO:0009966;regulation of signal transduction;IEA|GO:0009967;positive regulation of signal transduction;IEA|GO:0032675;regulation of interleukin-6 production;IDA|GO:0032757;positive regulation of interleukin-8 production;IDA|GO:0045742;positive regulation of epidermal growth factor receptor signaling pathway;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0061098;positive regulation of protein tyrosine kinase activity;IEA	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA	GO:0017124;SH3 domain binding;IPI|GO:0030296;protein tyrosine kinase activator activity;IDA|GO:0035591;signaling adaptor activity;IEA|GO:0042169;SH2 domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AFAP1L2			https://www.ncbi.nlm.nih.gov/omim/?term=612420	http://www.informatics.jax.org/searchtool/Search.do?query=AFAP1L2&submit=Quick%0D%12422ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AFAP1L2
2_252.744_266.744	Chr2:235528138-241561721	0.223	AGAP1	ENSG00000157985	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	chr2:236402733-237040444	This gene encodes a member of an ADP-ribosylation factor GTPase-activating protein family involved in membrane trafficking and cytoskeleton dynamics. This gene functions as a direct regulator of the adaptor-related protein complex 3 on endosomes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]	Schizophrenia; Body Mass Index; autism; Hemoglobins; Arteries; Metabolism	 		GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005737;cytoplasm;IEA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0005096;GTPase activator activity;IEA|GO:0005525;GTP binding;IEA|GO:0005543;phospholipid binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AGAP1			https://www.ncbi.nlm.nih.gov/omim/?term=608651	http://www.informatics.jax.org/searchtool/Search.do?query=AGAP1&submit=Quick%0D%10152ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AGAP1
22_4.194_23.194	Chr22:17733575-25291782	0.374	AIFM3	ENSG00000183773	apoptosis inducing factor, mitochondria associated 3	chr22:21319396-21335649		Acquired Immunodeficiency Syndrome|Disease Progression	 		GO:0006915;apoptotic process;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0097194;execution phase of apoptosis;IDA	GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005829;cytosol;IDA	GO:0016491;oxidoreductase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0050660;flavin adenine dinucleotide binding;IEA|GO:0051536;iron-sulfur cluster binding;IEA|GO:0051537;2 iron, 2 sulfur cluster binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AIFM3			https://www.ncbi.nlm.nih.gov/omim/?term=617298	http://www.informatics.jax.org/searchtool/Search.do?query=AIFM3&submit=Quick%0D%15071ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AIFM3
10_101.305_148.305	Chr10:78740262-120743937	1.191	ALDH18A1	ENSG00000059573	aldehyde dehydrogenase 18 family member A1	chr10:97365696-97416463	This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. The encoded protein catalyzes the reduction of glutamate to delta1-pyrroline-5-carboxylate, a critical step in the de novo biosynthesis of proline, ornithine and arginine. Mutations in this gene lead to hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia and may be associated with neurodegeneration, cataracts and connective tissue diseases. Alternatively spliced transcript variants, encoding different isoforms, have been described for this gene. [provided by RefSeq, Jul 2008]	Alzheimer's disease ; Acquired Immunodeficiency Syndrome|Disease Progression; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Tobacco Use Disorder	 	Amino acid synthesis and interconversion (transamination)	GO:0006536;glutamate metabolic process;IMP|GO:0006561;proline biosynthetic process;TAS|GO:0006592;ornithine biosynthetic process;IMP|GO:0008152;metabolic process;IEA|GO:0008652;cellular amino acid biosynthetic process;TAS|GO:0016310;phosphorylation;IEA|GO:0019240;citrulline biosynthetic process;IMP|GO:0055114;oxidation-reduction process;IEA|GO:0055129;L-proline biosynthetic process;IEA	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005829;cytosol;IDA|GO:0016020;membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0003723;RNA binding;IDA|GO:0003824;catalytic activity;IEA|GO:0004349;glutamate 5-kinase activity;IEA|GO:0004350;glutamate-5-semialdehyde dehydrogenase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016740;transferase activity;IEA|GO:0017084;delta1-pyrroline-5-carboxylate synthetase activity;EXP|GO:0042802;identical protein binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ALDH18A1	https://www.uniprot.org/uniprot/P54886	https://hpo.jax.org/app/browse/search?q=ALDH18A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=138250	http://www.informatics.jax.org/searchtool/Search.do?query=ALDH18A1&submit=Quick%0D%1047ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ALDH18A1
2_252.744_266.744	Chr2:235528138-241561721	0.223	ANKMY1	ENSG00000144504	ankyrin repeat and MYND domain containing 1	chr2:241418839-241508626		Platelet Count; Alzheimer's disease ; Tobacco Use Disorder	 				GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ANKMY1	https://www.uniprot.org/uniprot/Q9P2S6			http://www.informatics.jax.org/searchtool/Search.do?query=ANKMY1&submit=Quick%0D%8616ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKMY1
10_101.305_148.305	Chr10:78740262-120743937	1.191	ANKRD1	ENSG00000148677	ankyrin repeat domain 1	chr10:92671853-92681033	The protein encoded by this gene is localized to the nucleus of endothelial cells and is induced by IL-1 and TNF-alpha stimulation. Studies in rat cardiomyocytes suggest that this gene functions as a transcription factor. Interactions between this protein and the sarcomeric proteins myopalladin and titin suggest that it may also be involved in the myofibrillar stretch-sensor system. [provided by RefSeq, Jul 2008]	ovarian cancer; Creatinine; Glomerular Filtration Rate; Cardiomyopathy, Hypertrophic|; Cardiomyopathy, Dilated|Cardiomyopathy, Hypertrophic|DCM - Dilated cardiomyopathy|Heart Failure|Hypertrophic Cardiomyopathy; Hypercholesterolemia|LDLC levels; Cardiomyopathy, Dilated|	Mice homozygous for a null allele are viable, fertile, and show no apparent cardiac phenotype.	PPARA activates gene expression	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0010976;positive regulation of neuron projection development;IEA|GO:0019216;regulation of lipid metabolic process;TAS|GO:0035690;cellular response to drug;IEA|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0035994;response to muscle stretch;IMP|GO:0042692;muscle cell differentiation;IBA|GO:0043065;positive regulation of apoptotic process;IMP|GO:0043517;positive regulation of DNA damage response, signal transduction by p53 class mediator;IDA|GO:0045214;sarcomere organization;NAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0050714;positive regulation of protein secretion;IMP|GO:0055008;cardiac muscle tissue morphogenesis;IMP|GO:0071222;cellular response to lipopolysaccharide;IDA|GO:0071260;cellular response to mechanical stimulus;IDA|GO:0071347;cellular response to interleukin-1;IDA|GO:0071356;cellular response to tumor necrosis factor;IDA|GO:0071407;cellular response to organic cyclic compound;IEA|GO:0071456;cellular response to hypoxia;IEA|GO:0071560;cellular response to transforming growth factor beta stimulus;IDA|GO:2000279;negative regulation of DNA biosynthetic process;IMP	GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005667;transcription factor complex;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA|GO:0030016;myofibril;IEA|GO:0030017;sarcomere;IBA|GO:0031674;I band;ISS	GO:0001085;RNA polymerase II transcription factor binding;IPI|GO:0001105;RNA polymerase II transcription coactivator activity;IDA|GO:0002039;p53 binding;IPI|GO:0003677;DNA binding;IDA|GO:0003714;transcription corepressor activity;TAS|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IEA|GO:0031432;titin binding;IPI|GO:0042826;histone deacetylase binding;IPI|GO:0070412;R-SMAD binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ANKRD1	https://www.uniprot.org/uniprot/Q15327	https://hpo.jax.org/app/browse/search?q=ANKRD1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609599	http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD1&submit=Quick%0D%9145ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD1
10_101.305_148.305	Chr10:78740262-120743937	1.191	ANKRD2	ENSG00000165887	ankyrin repeat domain 2	chr10:99332198-99343641	This gene encodes a protein that belongs to the muscle ankyrin repeat protein (MARP) family. A similar gene in rodents is a component of a muscle stress response pathway and plays a role in the stretch-response associated with slow muscle function. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]	Blood Pressure; Echocardiography; Respiratory Function Tests; Angiography; Temporal Lobe; Alzheimer's disease 	Mice homozygous for a null allele are viable, fertile and free of cardiac defects but exhibit altered inflammatory responses and are prone to skeletal muscle fiber-type switching of slow fibers toward a faster phenotype.		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IGI|GO:0001817;regulation of cytokine production;IEA|GO:0006936;muscle contraction;NAS|GO:0007517;muscle organ development;NAS|GO:0010832;negative regulation of myotube differentiation;IEA|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0043619;regulation of transcription from RNA polymerase II promoter in response to oxidative stress;IDA|GO:0045662;negative regulation of myoblast differentiation;IMP|GO:1902253;regulation of intrinsic apoptotic signaling pathway by p53 class mediator;IEA|GO:2000291;regulation of myoblast proliferation;IEA	GO:0000791;euchromatin;IEA|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IEA|GO:0016605;PML body;IEA|GO:0030016;myofibril;IEA|GO:0030017;sarcomere;IEA|GO:0031674;I band;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0003682;chromatin binding;IEA|GO:0008307;structural constituent of muscle;NAS|GO:0031432;titin binding;IEA|GO:0043422;protein kinase B binding;IPI|GO:0061629;RNA polymerase II sequence-specific DNA binding transcription factor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/ANKRD2			https://www.ncbi.nlm.nih.gov/omim/?term=610734	http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD2&submit=Quick%0D%11646ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD2
10_101.305_148.305	Chr10:78740262-120743937	1.191	ANKRD22	ENSG00000152766	ankyrin repeat domain 22	chr10:90581889-90611575		Alzheimer's disease ; Tobacco Use Disorder; Intercellular Adhesion Molecule-1	 					http://www.genecards.org/index.php?path=/Search/keyword/ANKRD22	https://www.uniprot.org/uniprot/Q5VYY1			http://www.informatics.jax.org/searchtool/Search.do?query=ANKRD22&submit=Quick%0D%9588ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANKRD22
10_101.305_148.305	Chr10:78740262-120743937	1.191	ANXA11	ENSG00000122359	annexin A11	chr10:81910645-81965328	This gene encodes a member of the annexin family, a group of calcium-dependent phospholipid-binding proteins. Annexins have unique N-terminal domains and conserved C-terminal domains, which contain calcium-dependent phospholipid-binding sites. The encoded protein is a 56-kD antigen recognized by sera from patients with various autoimmune diseases. Several transcript variants encoding two different isoforms have been identified. [provided by RefSeq, Dec 2015]	null; Femur Head Necrosis|; Sarcoidosis; Alzheimer's disease 	 		GO:0006909;phagocytosis;IEP|GO:0007049;cell cycle;IEA|GO:0032506;cytokinetic process;IMP|GO:0051301;cell division;IEA|GO:0051592;response to calcium ion;IDA	GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005819;spindle;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0016020;membrane;IDA|GO:0030496;midbody;IDA|GO:0042470;melanosome;IEA|GO:0042581;specific granule;IDA|GO:0042582;azurophil granule;IDA|GO:0045335;phagocytic vesicle;IDA|GO:0070062;extracellular exosome;IDA	GO:0003723;RNA binding;IDA|GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0005544;calcium-dependent phospholipid binding;IEA|GO:0008429;phosphatidylethanolamine binding;IEA|GO:0023026;MHC class II protein complex binding;IDA|GO:0044548;S100 protein binding;IPI|GO:0048306;calcium-dependent protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ANXA11	https://www.uniprot.org/uniprot/P50995	https://hpo.jax.org/app/browse/search?q=ANXA11&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602572	http://www.informatics.jax.org/searchtool/Search.do?query=ANXA11&submit=Quick%0D%5401ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ANXA11
22_4.194_23.194	Chr22:17733575-25291782	0.374	AP000349.1	ENSG00000267954	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	chr22:24124467-24126145								http://www.genecards.org/index.php?path=/Search/keyword/AP000349.1			https://www.ncbi.nlm.nih.gov/omim/?term=601607	http://www.informatics.jax.org/searchtool/Search.do?query=AP000349.1&submit=Quick%0D%20689ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AP000349.1
22_4.194_23.194	Chr22:17733575-25291782	0.374	AP000350.4	ENSG00000251357		chr22:24236613-24241117					GO:0055085;transmembrane transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005215;transporter activity;IEA|GO:0022857;transmembrane transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/AP000350.4				http://www.informatics.jax.org/searchtool/Search.do?query=AP000350.4&submit=Quick%0D%19996ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AP000350.4
22_4.194_23.194	Chr22:17733575-25291782	0.374	AP000351.3	ENSG00000278401	glutathione S-transferase theta 1	chr22:24319095-24319776								http://www.genecards.org/index.php?path=/Search/keyword/AP000351.3			https://www.ncbi.nlm.nih.gov/omim/?term=600436	http://www.informatics.jax.org/searchtool/Search.do?query=AP000351.3&submit=Quick%0D%22040ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AP000351.3
10_101.305_148.305	Chr10:78740262-120743937	1.191	ARHGAP19	ENSG00000213390	Rho GTPase activating protein 19	chr10:98978996-99052413	Members of the ARHGAP family, such as ARHGAP19, encode negative regulators of Rho GTPases (see RHOA; MIM 165390), which are involved in cell migration, proliferation, and differentiation, actin remodeling, and G1 cell cycle progression (Lv et al., 2007 [PubMed 17454002]).[supplied by OMIM, Mar 2008]	Alzheimer's disease ; Pulse	Mice homozygous for a gene trap allele are viable with no obvious abnormalities.	Rho GTPase cycle	GO:0007165;signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS	GO:0005634;nucleus;IEA|GO:0005829;cytosol;TAS	GO:0005096;GTPase activator activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP19			https://www.ncbi.nlm.nih.gov/omim/?term=611587	http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP19&submit=Quick%0D%18118ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP19
10_101.305_148.305	Chr10:78740262-120743937	1.191	ARHGAP19-SLIT1	ENSG00000269891	ARHGAP19-SLIT1 readthrough (NMD candidate)	chr10:98757795-99052413	This locus represents naturally occurring read-through transcription between the neighboring Rho GTPase activating protein 19 (ARHGAP19) and slit homolog 1 (SLIT1) genes on chromosome 10. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Feb 2011]		Mice homozygous for a gene trap allele are viable with no obvious abnormalities.					http://www.genecards.org/index.php?path=/Search/keyword/ARHGAP19-SLIT1				http://www.informatics.jax.org/searchtool/Search.do?query=ARHGAP19-SLIT1&submit=Quick%0D%20784ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARHGAP19-SLIT1
10_101.305_148.305	Chr10:78740262-120743937	1.191	ARL3	ENSG00000138175	ADP ribosylation factor like GTPase 3	chr10:104433488-104474164	ADP-ribosylation factor-like 3 is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL3 binds guanine nucleotides but lacks ADP-ribosylation factor activity. [provided by RefSeq, Jul 2008]	Alzheimer's disease ; Coronary Artery Disease	Mice homozygous for a gene trapped allele are born at sub-Mendelian ratios, are small and sickly, fail to thrive, and die by 3 weeks of age exhibiting photoreceptor degeneration and abnormal epithelial cell proliferation and cyst formation in the kidney,liver, and pancreatic tubule structures.	Trafficking of myristoylated proteins to the cilium	GO:0000910;cytokinesis;IMP|GO:0001822;kidney development;IEA|GO:0006810;transport;IEA|GO:0006892;post-Golgi vesicle-mediated transport;IMP|GO:0007049;cell cycle;IEA|GO:0007224;smoothened signaling pathway;IEA|GO:0007264;small GTPase mediated signal transduction;IDA|GO:0015031;protein transport;IEA|GO:0042073;intraciliary transport;IEA|GO:0042461;photoreceptor cell development;IEA|GO:0051301;cell division;IEA|GO:0060271;cilium assembly;IMP	GO:0000139;Golgi membrane;IEA|GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005856;cytoskeleton;IEA|GO:0005876;spindle microtubule;IDA|GO:0005881;cytoplasmic microtubule;IDA|GO:0005929;cilium;TAS|GO:0016020;membrane;IEA|GO:0030496;midbody;IDA|GO:0032391;photoreceptor connecting cilium;IDA|GO:0042995;cell projection;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;TAS|GO:0008017;microtubule binding;IDA|GO:0019003;GDP binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ARL3	https://www.uniprot.org/uniprot/P36405	https://hpo.jax.org/app/browse/search?q=ARL3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604695	http://www.informatics.jax.org/searchtool/Search.do?query=ARL3&submit=Quick%0D%7691ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARL3
22_4.194_23.194	Chr22:17733575-25291782	0.374	ARVCF	ENSG00000099889	armadillo repeat gene deleted in velocardiofacial syndrome	chr22:19957419-20004331	Armadillo Repeat gene deleted in Velo-Cardio-Facial syndrome (ARVCF) is a member of the catenin family. This family plays an important role in the formation of adherens junction complexes, which are thought to facilitate communication between the inside and outside environments of a cell. The ARVCF gene was isolated in the search for the genetic defect responsible for the autosomal dominant Velo-Cardio-Facial syndrome (VCFS), a relatively common human disorder with phenotypic features including cleft palate, conotruncal heart defects and facial dysmorphology. The ARVCF gene encodes a protein containing two motifs, a coiled coil domain in the N-terminus and a 10 armadillo repeat sequence in the midregion. Since these sequences can facilitate protein-protein interactions ARVCF is thought to function in a protein complex. In addition, ARVCF contains a predicted nuclear-targeting sequence suggesting that it may have a function as a nuclear protein. [provided by RefSeq, Jun 2010]	Cleft Lip|Cleft Palate; anorexia nervosa; Chronic renal failure|Kidney Failure, Chronic; Body Mass Index; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; Body Weights and Measures; Heart Failure; hypertension; bladder cancer; Tobacco Use Disorder; Body Composition; Schizophrenia; Kidney Diseases	Mice homozygous for a targeted allele display abnormal gait and cataracts.		GO:0007155;cell adhesion;TAS|GO:0007275;multicellular organism development;TAS|GO:0016337;single organismal cell-cell adhesion;IEA|GO:0016339;calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules;IEA	GO:0005622;intracellular;TAS|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ARVCF	https://www.uniprot.org/uniprot/O00192	https://hpo.jax.org/app/browse/search?q=ARVCF&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602269	http://www.informatics.jax.org/searchtool/Search.do?query=ARVCF&submit=Quick%0D%2347ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ARVCF
10_101.305_148.305	Chr10:78740262-120743937	1.191	AS3MT	ENSG00000214435	arsenite methyltransferase	chr10:104629273-104661656	AS3MT catalyzes the transfer of a methyl group from S-adenosyl-L-methionine (AdoMet) to trivalent arsenical and may play a role in arsenic metabolism (Lin et al., 2002 [PubMed 11790780]).[supplied by OMIM, Mar 2008]	Arsenic Poisoning|Cardiovascular Diseases; systolic blood pressure; Skin Diseases; arsenic ; Arsenic Poisoning; arsnic exposure; Acquired Immunodeficiency Syndrome|Disease Progression; Precancerous Conditions|Skin Neoplasms; arsenic metabolism; null; Alzheimer's disease ; DNA Damage	Mice homozygous for a null allele have abnormalities in arsenic methylation and in the distribution/retention of orally administered arsenate.	Methylation	GO:0009404;toxin metabolic process;ISS|GO:0018872;arsonoacetate metabolic process;ISS|GO:0032259;methylation;TAS	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;TAS	GO:0008168;methyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0030791;arsenite methyltransferase activity;TAS|GO:0030792;methylarsonite methyltransferase activity;ISS	http://www.genecards.org/index.php?path=/Search/keyword/AS3MT			https://www.ncbi.nlm.nih.gov/omim/?term=611806	http://www.informatics.jax.org/searchtool/Search.do?query=AS3MT&submit=Quick%0D%18244ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AS3MT
2_252.744_266.744	Chr2:235528138-241561721	0.223	ASB1	ENSG00000065802	ankyrin repeat and SOCS box containing 1	chr2:239335383-239360891	The protein encoded by this gene contains an ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, targeting them for ubiquitination and degradation. [provided by RefSeq, Aug 2016]	Albumins; Behcet Syndrome; Respiratory Function Tests; Schizophrenia; Bipolar Disorder	Homozygous mutation of this gene results in spleen hypocellularity, decreased spermatogenesis, and thickening of the skin in male animals.	Antigen processing: Ubiquitination & Proteasome degradation	GO:0007275;multicellular organism development;IEA|GO:0016567;protein ubiquitination;IEA|GO:0030539;male genitalia development;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0042036;negative regulation of cytokine biosynthetic process;NAS|GO:0043687;post-translational protein modification;TAS	GO:0005622;intracellular;IC|GO:0005829;cytosol;TAS	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/ASB1	https://www.uniprot.org/uniprot/Q9Y576		https://www.ncbi.nlm.nih.gov/omim/?term=605758	http://www.informatics.jax.org/searchtool/Search.do?query=ASB1&submit=Quick%0D%1192ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ASB1
2_252.744_266.744	Chr2:235528138-241561721	0.223	ASB18	ENSG00000182177	ankyrin repeat and SOCS box containing 18	chr2:237102095-237173052		Cholesterol, LDL; Body Mass Index	 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0016567;protein ubiquitination;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043687;post-translational protein modification;TAS	GO:0000151;ubiquitin ligase complex;IBA|GO:0005634;nucleus;IBA|GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004842;ubiquitin-protein transferase activity;IBA|GO:0031625;ubiquitin protein ligase binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/ASB18				http://www.informatics.jax.org/searchtool/Search.do?query=ASB18&submit=Quick%0D%14736ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ASB18
10_101.305_148.305	Chr10:78740262-120743937	1.191	ATAD1	ENSG00000283024	ATPase family, AAA domain containing 1	chr10:89511269-89601100		Alzheimer's disease ; Acquired Immunodeficiency Syndrome|Disease Progression; Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit decreased body size, seizure, absent LTD, enhanced LTP, enhanced AMPA-mediated currents, and premature death.		GO:0002092;positive regulation of receptor internalization;ISS|GO:0007612;learning;ISS|GO:0007613;memory;ISS|GO:0051967;negative regulation of synaptic transmission, glutamatergic;ISS	GO:0005634;nucleus;IBA|GO:0005777;peroxisome;IEA|GO:0005778;peroxisomal membrane;IDA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IDA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0016887;ATPase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATAD1	https://www.uniprot.org/uniprot/Q8NBU5	https://hpo.jax.org/app/browse/search?q=ATAD1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614452	http://www.informatics.jax.org/searchtool/Search.do?query=ATAD1&submit=Quick%0D%22673ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATAD1
22_4.194_23.194	Chr22:17733575-25291782	0.374	ATP6V1E1	ENSG00000131100	ATPase H+ transporting V1 subunit E1	chr22:18074902-18111584	This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain E subunit isoforms. Pseudogenes for this gene have been found in the genome. [provided by RefSeq, Jul 2008]	Bipolar Disorder	 	Ion channel transport	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0008286;insulin receptor signaling pathway;TAS|GO:0015991;ATP hydrolysis coupled proton transport;IEA|GO:0015992;proton transport;TAS|GO:0016241;regulation of macroautophagy;NAS|GO:0033572;transferrin transport;TAS|GO:0034220;ion transmembrane transport;TAS|GO:0090383;phagosome acidification;TAS	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005768;endosome;IEA|GO:0005829;cytosol;TAS|GO:0005902;microvillus;IEA|GO:0016324;apical plasma membrane;IEA|GO:0016469;proton-transporting two-sector ATPase complex;TAS|GO:0033178;proton-transporting two-sector ATPase complex, catalytic domain;IEA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0008553;hydrogen-exporting ATPase activity, phosphorylative mechanism;IEA|GO:0016787;hydrolase activity;IEA|GO:0046961;proton-transporting ATPase activity, rotational mechanism;IEA|GO:0051117;ATPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/ATP6V1E1	https://www.uniprot.org/uniprot/P36543	https://hpo.jax.org/app/browse/search?q=ATP6V1E1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=108746	http://www.informatics.jax.org/searchtool/Search.do?query=ATP6V1E1&submit=Quick%0D%6498ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATP6V1E1
10_101.305_148.305	Chr10:78740262-120743937	1.191	ATRNL1	ENSG00000107518	attractin like 1	chr10:116853124-117708503		Body Weight; Respiratory Function Tests; Tobacco Use Disorder; Alzheimer's disease ; Hemoglobins; Glucose; Body Weights and Measures; Hand Strength; Neurobehavioral Manifestations	Mice homozygous for a null allele exhibit normal coat coloring and normal brain morphology.		GO:0007186;G-protein coupled receptor signaling pathway;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ATRNL1	https://www.uniprot.org/uniprot/Q5VV63		https://www.ncbi.nlm.nih.gov/omim/?term=612869	http://www.informatics.jax.org/searchtool/Search.do?query=ATRNL1&submit=Quick%0D%3610ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ATRNL1
10_101.305_148.305	Chr10:78740262-120743937	1.191	AVPI1	ENSG00000119986	arginine vasopressin induced 1	chr10:99437181-99447080		Blood Pressure; Alzheimer's disease 	 		GO:0000187;activation of MAPK activity;IEA|GO:0007049;cell cycle;IEA		GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/AVPI1	https://www.uniprot.org/uniprot/Q5T686			http://www.informatics.jax.org/searchtool/Search.do?query=AVPI1&submit=Quick%0D%5151ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=AVPI1
10_101.305_148.305	Chr10:78740262-120743937	1.191	BBIP1	ENSG00000214413	BBSome interacting protein 1	chr10:112658488-112679032	This gene encodes one of eight proteins that form the BBSome complex and is essential for its assembly. The BBSome complex is involved in trafficking signal receptors to and from the cilia. Mutations in this gene result in Bardet-Biedl syndrome 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]	Bardet-Biedl syndrome 18	Mice homozygous for a null mutation display strain dependent postnatal lethality, obesity, hyperphagia, retinal degeneration and male infertility.	BBSome-mediated cargo-targeting to cilium	GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0030030;cell projection organization;IEA|GO:0060271;cilium assembly;IMP|GO:0097500;receptor localization to non-motile cilium;IBA	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005929;cilium;IEA|GO:0034464;BBSome;IDA|GO:0042995;cell projection;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/BBIP1		https://hpo.jax.org/app/browse/search?q=BBIP1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613605	http://www.informatics.jax.org/searchtool/Search.do?query=BBIP1&submit=Quick%0D%18241ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BBIP1
22_4.194_23.194	Chr22:17733575-25291782	0.374	BCL2L13	ENSG00000099968	BCL2 like 13	chr22:18111621-18213388	This gene encodes a mitochondrially-localized protein with conserved B-cell lymphoma 2 homology motifs. Overexpression of the encoded protein results in apoptosis. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012]	Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; prostate cancer; Acquired Immunodeficiency Syndrome|Disease Progression; Tobacco Use Disorder	 		GO:0006915;apoptotic process;IEA|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;NAS|GO:0042981;regulation of apoptotic process;IEA	GO:0005634;nucleus;IEA|GO:0005739;mitochondrion;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IDA|GO:0031966;mitochondrial membrane;IEA	GO:0005515;protein binding;IPI|GO:0008656;cysteine-type endopeptidase activator activity involved in apoptotic process;NAS	http://www.genecards.org/index.php?path=/Search/keyword/BCL2L13	https://www.uniprot.org/uniprot/Q9BXK5			http://www.informatics.jax.org/searchtool/Search.do?query=BCL2L13&submit=Quick%0D%2363ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BCL2L13
22_4.194_23.194	Chr22:17733575-25291782	0.374	BCR	ENSG00000186716	BCR, RhoGEF and GTPase activating protein	chr22:23521891-23660224	A reciprocal translocation between chromosomes 22 and 9 produces the Philadelphia chromosome, which is often found in patients with chronic myelogenous leukemia. The chromosome 22 breakpoint for this translocation is located within the BCR gene. The translocation produces a fusion protein which is encoded by sequence from both BCR and ABL, the gene at the chromosome 9 breakpoint. Although the BCR-ABL fusion protein has been extensively studied, the function of the normal BCR gene product is not clear. The protein has serine/threonine kinase activity and is a GTPase-activating protein for p21rac. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	skin cancer, non-melanoma; depressive disorder, major; bipolar disorder; height; breast cancer colorectal cancer stomach cancer; Chromosome Breakage|Leukemia, Myelogenous, Chronic, BCR-ABL Positive; lung cancer; endometriosis; ovarian cancer; lung cancer ; coronary spastic angina; Tobacco Use Disorder; melanoma; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; bladder cancer; colorectal cancer; thyroid cancer; melanoma; nevi; chronic obstructive pulmonary disease; leukemia; Alzheimer's disease 	Homozygous null mutants are defective in hormonal and behavioral stress response regulation and prone to septic shock, whereas chimeric mice carrying a BCR-ABL fusion mutation mimicking human Philadelphia chromosome develop chronic myeloid leukemia.	Signaling by FGFR1 in disease	GO:0002692;negative regulation of cellular extravasation;IEA|GO:0003014;renal system process;IEA|GO:0006468;protein phosphorylation;TAS|GO:0007165;signal transduction;TAS|GO:0007420;brain development;IEA|GO:0016310;phosphorylation;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0030036;actin cytoskeleton organization;IEA|GO:0030336;negative regulation of cell migration;IEA|GO:0032496;response to lipopolysaccharide;IEA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0043114;regulation of vascular permeability;IEA|GO:0043314;negative regulation of neutrophil degranulation;IEA|GO:0043547;positive regulation of GTPase activity;IBA|GO:0046777;protein autophosphorylation;IEA|GO:0048008;platelet-derived growth factor receptor signaling pathway;IEA|GO:0048872;homeostasis of number of cells;IEA|GO:0050728;negative regulation of inflammatory response;IEA|GO:0050766;positive regulation of phagocytosis;IEA|GO:0050885;neuromuscular process controlling balance;IEA|GO:0051056;regulation of small GTPase mediated signal transduction;TAS|GO:0051171;regulation of nitrogen compound metabolic process;IEA|GO:0051726;regulation of cell cycle;IEA|GO:0060216;definitive hemopoiesis;IEA|GO:0060268;negative regulation of respiratory burst;IEA|GO:0060313;negative regulation of blood vessel remodeling;IEA|GO:0065002;intracellular protein transmembrane transport;IEA|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:2000378;negative regulation of reactive oxygen species metabolic process;IEA	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IDA|GO:0030054;cell junction;IEA|GO:0043234;protein complex;IDA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0004713;protein tyrosine kinase activity;TAS|GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0005096;GTPase activator activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;TAS|GO:0016740;transferase activity;IEA|GO:0019899;enzyme binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BCR		https://hpo.jax.org/app/browse/search?q=BCR&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=151410	http://www.informatics.jax.org/searchtool/Search.do?query=BCR&submit=Quick%0D%15697ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BCR
22_4.194_23.194	Chr22:17733575-25291782	0.374	BID	ENSG00000015475	BH3 interacting domain death agonist	chr22:18216906-18257536	This gene encodes a death agonist that heterodimerizes with either agonist BAX or antagonist BCL2. The encoded protein is a member of the BCL-2 family of cell death regulators. It is a mediator of mitochondrial damage induced by caspase-8 (CASP8); CASP8 cleaves this encoded protein, and the COOH-terminal part translocates to mitochondria where it triggers cytochrome c release. Multiple alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2008]	Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; diabetes, type 1 ; Hepatitis C, Chronic|HIV Infections|Liver Diseases; Adenocarcinoma|Lymphatic Metastasis|Stomach Neoplasms; esophageal adenocarcinoma; Acquired Immunodeficiency Syndrome|Disease Progression; clubfoot; breast cancer ; Chronic renal failure|Kidney Failure, Chronic; Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Leukemia, Lymphocytic, Chronic, B-Cell; colorectal cancer	Homozygous null mutants survive with little or no liver damage after injection with antibody against Fas, whereas mice normally die from hepatocellular apoptosis and hemorragic necrosis.	Activation, myristolyation of BID and translocation to mitochondria	GO:0001836;release of cytochrome c from mitochondria;IDA|GO:0006626;protein targeting to mitochondrion;IEA|GO:0006915;apoptotic process;IEA|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0007420;brain development;IEA|GO:0008625;extrinsic apoptotic signaling pathway via death domain receptors;TAS|GO:0008637;apoptotic mitochondrial changes;TAS|GO:0010918;positive regulation of mitochondrial membrane potential;IEA|GO:0032355;response to estradiol;IEA|GO:0032459;regulation of protein oligomerization;IEA|GO:0032461;positive regulation of protein oligomerization;IDA|GO:0032464;positive regulation of protein homooligomerization;IDA|GO:0034349;glial cell apoptotic process;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042770;signal transduction in response to DNA damage;TAS|GO:0042775;mitochondrial ATP synthesis coupled electron transport;IEA|GO:0042981;regulation of apoptotic process;TAS|GO:0043065;positive regulation of apoptotic process;IMP|GO:0051260;protein homooligomerization;IEA|GO:0051402;neuron apoptotic process;TAS|GO:0090150;establishment of protein localization to membrane;IDA|GO:0090200;positive regulation of release of cytochrome c from mitochondria;IGI|GO:0097191;extrinsic apoptotic signaling pathway;IEA|GO:0097284;hepatocyte apoptotic process;IEA|GO:0097345;mitochondrial outer membrane permeabilization;IEA|GO:1900740;positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway;TAS|GO:1901030;positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway;TAS|GO:1902108;regulation of mitochondrial membrane permeability involved in apoptotic process;IEA|GO:1902230;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage;IEA|GO:2000045;regulation of G1/S transition of mitotic cell cycle;IEA|GO:2000271;positive regulation of fibroblast apoptotic process;IEA|GO:2001235;positive regulation of apoptotic signaling pathway;IEA|GO:2001238;positive regulation of extrinsic apoptotic signaling pathway;IMP|GO:2001244;positive regulation of intrinsic apoptotic signaling pathway;TAS	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;TAS|GO:0005741;mitochondrial outer membrane;TAS|GO:0005829;cytosol;TAS|GO:0016020;membrane;TAS|GO:0031966;mitochondrial membrane;IEA|GO:0032592;integral component of mitochondrial membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005123;death receptor binding;TAS|GO:0005515;protein binding;IPI|GO:0031625;ubiquitin protein ligase binding;IEA|GO:0046982;protein heterodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BID	https://www.uniprot.org/uniprot/P55957		https://www.ncbi.nlm.nih.gov/omim/?term=601997	http://www.informatics.jax.org/searchtool/Search.do?query=BID&submit=Quick%0D%619ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BID
10_101.305_148.305	Chr10:78740262-120743937	1.191	BLNK	ENSG00000095585	B-cell linker	chr10:97951458-98031344	This gene encodes a cytoplasmic linker or adaptor protein that plays a critical role in B cell development. This protein bridges B cell receptor-associated kinase activation with downstream signaling pathways, thereby affecting various biological functions. The phosphorylation of five tyrosine residues is necessary for this protein to nucleate distinct signaling effectors following B cell receptor activation. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. Deficiency in this protein has also been shown in some cases of pre-B acute lymphoblastic leukemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012]	Alzheimer's disease ; Tobacco Use Disorder	Homozygotes for targeted null mutations exhibit a partial block in pre-B cell development, a lack of B1 B cells, reduced numbers of mature B cells, lower IgM and IgG3 serum levels, poor IgM immune responses, and a high incidence of pre-B cell lymphoma.	Antigen activates B Cell Receptor (BCR) leading to generation of second messengers	GO:0006954;inflammatory response;TAS|GO:0006959;humoral immune response;TAS|GO:0007169;transmembrane receptor protein tyrosine kinase signaling pathway;IEA|GO:0009967;positive regulation of signal transduction;IEA|GO:0030183;B cell differentiation;NAS|GO:0035556;intracellular signal transduction;IDA|GO:0042113;B cell activation;IEA	GO:0005622;intracellular;NAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA	GO:0005068;transmembrane receptor protein tyrosine kinase adaptor activity;TAS|GO:0005070;SH3/SH2 adaptor activity;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/BLNK	https://www.uniprot.org/uniprot/Q8WV28	https://hpo.jax.org/app/browse/search?q=BLNK&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604515	http://www.informatics.jax.org/searchtool/Search.do?query=BLNK&submit=Quick%0D%2252ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BLNK
10_101.305_148.305	Chr10:78740262-120743937	1.191	BLOC1S2	ENSG00000196072	biogenesis of lysosomal organelles complex 1 subunit 2	chr10:102033713-102046469	This gene encodes a protein with multiple functions. The encoded protein has been found in association with the centrosome, shown to co-localize with gamma-tubulin, and also found to be one of the proteins in the BLOC-1 complex which functions in the formation of lysosome-related organelles. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]		Mice homozygous for a null allele exhibit elevated Notch signaling during neural and hematopoietic stem and progenitor cell development leading to prenatal and neonatal lethality associated with defects in cortical development and hematopoiesis, craniofacial anomalies, and absent eye pigmentation.		GO:0008089;anterograde axonal transport;ISS|GO:0008625;extrinsic apoptotic signaling pathway via death domain receptors;IDA|GO:0031175;neuron projection development;ISS|GO:0032418;lysosome localization;IMP|GO:0032438;melanosome organization;NAS|GO:0048490;anterograde synaptic vesicle transport;ISS|GO:0060155;platelet dense granule organization;NAS|GO:0097345;mitochondrial outer membrane permeabilization;IDA	GO:0000930;gamma-tubulin complex;IDA|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IDA|GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IEA|GO:0005856;cytoskeleton;IEA|GO:0016020;membrane;IEA|GO:0031083;BLOC-1 complex;IDA|GO:0099078;BORC complex;IDA|GO:1904115;axon cytoplasm;IEA	GO:0005515;protein binding;IPI|GO:0043015;gamma-tubulin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/BLOC1S2			https://www.ncbi.nlm.nih.gov/omim/?term=609768	http://www.informatics.jax.org/searchtool/Search.do?query=BLOC1S2&submit=Quick%0D%16246ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BLOC1S2
10_101.305_148.305	Chr10:78740262-120743937	1.191	BMPR1A	ENSG00000107779	bone morphogenetic protein receptor type 1A	chr10:88516407-88692595	The bone morphogenetic protein (BMP) receptors are a family of transmembrane serine/threonine kinases that include the type I receptors BMPR1A and BMPR1B and the type II receptor BMPR2. These receptors are also closely related to the activin receptors, ACVR1 and ACVR2. The ligands of these receptors are members of the TGF-beta superfamily. TGF-betas and activins transduce their signals through the formation of heteromeric complexes with 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. [provided by RefSeq, Jul 2008]	juvenile polyposis syndrome; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; polyposis, juvenile; Diabetes Mellitus, Type 2|Insulin Resistance|Obesity; Cleft Lip|Cleft Palate; Intestinal Polyposis; Alzheimer's disease ; Hepatopulmonary Syndrome|Liver Cirrhosis; bacteremia; Gastrointestinal Neoplasms|HHT - Hereditary hemorrhagic telangiectasia|Intestinal Polyposis|Neoplastic Syndromes, Hereditary|Telangiectasia, Hereditary Hemorrhagic; Bone Mineral Density; juvenile polyposis; Chronic renal failure|Kidney Failure, Chronic; Juvenile polyposis syndrome; polyposis, gastric	Homozygous null mutants die by embryonic day 9.5, are smaller than normal, and form no mesoderm; a conditional knockout resulted in gross malformations of the limbs with complete agenesis of the hindlimb.	Signaling by BMP	GO:0001701;in utero embryonic development;IEA|GO:0001707;mesoderm formation;IEA|GO:0001756;somitogenesis;IEA|GO:0001880;Mullerian duct regression;IEA|GO:0002053;positive regulation of mesenchymal cell proliferation;IEA|GO:0002062;chondrocyte differentiation;IEA|GO:0003007;heart morphogenesis;IEA|GO:0003148;outflow tract septum morphogenesis;IEA|GO:0003151;outflow tract morphogenesis;IEA|GO:0003161;cardiac conduction system development;IEA|GO:0003183;mitral valve morphogenesis;IEA|GO:0003186;tricuspid valve morphogenesis;IEA|GO:0003203;endocardial cushion morphogenesis;IEA|GO:0003215;cardiac right ventricle morphogenesis;IEA|GO:0003222;ventricular trabecula myocardium morphogenesis;IEA|GO:0003223;ventricular compact myocardium morphogenesis;IEA|GO:0003272;endocardial cushion formation;IEA|GO:0006468;protein phosphorylation;IDA|GO:0006955;immune response;IMP|GO:0007178;transmembrane receptor protein serine/threonine kinase signaling pathway;IEA|GO:0007179;transforming growth factor beta receptor signaling pathway;TAS|GO:0007389;pattern specification process;IEA|GO:0007398;ectoderm development;IEA|GO:0007399;nervous system development;IEA|GO:0007492;endoderm development;IEA|GO:0007507;heart development;IEA|GO:0009950;dorsal/ventral axis specification;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0009953;dorsal/ventral pattern formation;IEA|GO:0010862;positive regulation of pathway-restricted SMAD protein phosphorylation;IDA|GO:0014032;neural crest cell development;IEA|GO:0014912;negative regulation of smooth muscle cell migration;IMP|GO:0016310;phosphorylation;IEA|GO:0019827;stem cell population maintenance;IEA|GO:0021983;pituitary gland development;IEA|GO:0021998;neural plate mediolateral regionalization;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0030154;cell differentiation;IEA|GO:0030324;lung development;IEA|GO:0030501;positive regulation of bone mineralization;IMP|GO:0030509;BMP signaling pathway;TAS|GO:0035137;hindlimb morphogenesis;IEA|GO:0035912;dorsal aorta morphogenesis;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0042733;embryonic digit morphogenesis;IEA|GO:0045669;positive regulation of osteoblast differentiation;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048339;paraxial mesoderm development;IEA|GO:0048352;paraxial mesoderm structural organization;IEA|GO:0048368;lateral mesoderm development;IEA|GO:0048378;regulation of lateral mesodermal cell fate specification;IEA|GO:0048382;mesendoderm development;IEA|GO:0048568;embryonic organ development;IEA|GO:0048589;developmental growth;IEA|GO:0048598;embryonic morphogenesis;IEA|GO:0050679;positive regulation of epithelial cell proliferation;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0051216;cartilage development;IEA|GO:0060021;palate development;IEA|GO:0060043;regulation of cardiac muscle cell proliferation;IEA|GO:0060045;positive regulation of cardiac muscle cell proliferation;IEA|GO:0060391;positive regulation of SMAD protein import into nucleus;IDA|GO:0060896;neural plate pattern specification;IEA|GO:0060914;heart formation;IEA|GO:0061312;BMP signaling pathway involved in heart development;IC|GO:0061626;pharyngeal arch artery morphogenesis;IEA|GO:0071773;cellular response to BMP stimulus;IMP|GO:1902895;positive regulation of pri-miRNA transcription from RNA polymerase II promoter;IEA|GO:1904414;positive regulation of cardiac ventricle development;IEA|GO:1904707;positive regulation of vascular smooth muscle cell proliferation;IMP|GO:1905285;fibrous ring of heart morphogenesis;IEA|GO:2000772;regulation of cellular senescence;IEA	GO:0005886;plasma membrane;TAS|GO:0005901;caveola;IMP|GO:0009897;external side of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS|GO:0030425;dendrite;IEA|GO:0043025;neuronal cell body;IEA|GO:1990712;HFE-transferrin receptor complex;IC	GO:0000166;nucleotide binding;IEA|GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IEA|GO:0001948;glycoprotein binding;IPI|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0004675;transmembrane receptor protein serine/threonine kinase activity;TAS|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042803;protein homodimerization activity;IDA|GO:0046332;SMAD binding;IDA|GO:0046872;metal ion binding;IEA|GO:0098821;BMP receptor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BMPR1A	https://www.uniprot.org/uniprot/P36894	https://hpo.jax.org/app/browse/search?q=BMPR1A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601299	http://www.informatics.jax.org/searchtool/Search.do?query=BMPR1A&submit=Quick%0D%3635ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BMPR1A
10_101.305_148.305	Chr10:78740262-120743937	1.191	BTAF1	ENSG00000095564	B-TFIID TATA-box binding protein associated factor 1	chr10:93683526-93790082	This gene encodes a TAF (TATA box-binding protein-associated factor), which associates with TBP (TATA box-binding protein) to form the B-TFIID complex that is required for transcription initiation of genes by RNA polymerase II. This TAF has DNA-dependent ATPase activity, which drives the dissociation of TBP from DNA, freeing the TBP to associate with other TATA boxes or TATA-less promoters. [provided by RefSeq, Sep 2011]	Tobacco Use Disorder; Schizophrenia; Alzheimer's disease 	Embryos homozygous for a gene-trapped allele display growth retardation. Embryos homozygous for an ENU-induced allele show growth retardation, edema, abnormal blood circulation, myocardial trabeculae hypoplasia, and delayed head and brain development.		GO:0035562;negative regulation of chromatin binding;IMP|GO:0045892;negative regulation of transcription, DNA-templated;NAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0000166;nucleotide binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;NAS|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/BTAF1	https://www.uniprot.org/uniprot/O14981		https://www.ncbi.nlm.nih.gov/omim/?term=605191	http://www.informatics.jax.org/searchtool/Search.do?query=BTAF1&submit=Quick%0D%2250ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BTAF1
10_101.305_148.305	Chr10:78740262-120743937	1.191	BTRC	ENSG00000166167	beta-transducin repeat containing E3 ubiquitin protein ligase	chr10:103113820-103317078	This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbws class; in addition to an F-box, this protein contains multiple WD-40 repeats. The encoded protein mediates degradation of CD4 via its interaction with HIV-1 Vpu. It has also been shown to ubiquitinate phosphorylated NFKBIA (nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha), targeting it for degradation and thus activating nuclear factor kappa-B. Alternatively spliced transcript variants have been described. A related pseudogene exists in chromosome 6. [provided by RefSeq, Mar 2012]	colorectal cancer; hepatocellular carcinoma; Tobacco Use Disorder; stomach cancer; cerebellar medulloblastomas and cutaneous basal cell carcinomas.; Alzheimer's disease ; Respiratory Function Tests	Embryonic fibroblasts from homozygotes show an increase in polyploidy and apoptosis and decreased cell proliferation. In a second allele, homozygous mutation results in reduced male fertility and abnormal male meiosis with oligozoospermia.	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000086;G2/M transition of mitotic cell cycle;TAS|GO:0000209;protein polyubiquitination;TAS|GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0006470;protein dephosphorylation;ISS|GO:0006511;ubiquitin-dependent protein catabolic process;TAS|GO:0007165;signal transduction;TAS|GO:0016032;viral process;IEA|GO:0016055;Wnt signaling pathway;TAS|GO:0016567;protein ubiquitination;IDA|GO:0030163;protein catabolic process;IEA|GO:0031146;SCF-dependent proteasomal ubiquitin-dependent protein catabolic process;IBA|GO:0031648;protein destabilization;IMP|GO:0033598;mammary gland epithelial cell proliferation;IEA|GO:0038061;NIK/NF-kappaB signaling;TAS|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0042752;regulation of circadian rhythm;IDA|GO:0042753;positive regulation of circadian rhythm;ISS|GO:0043122;regulation of I-kappaB kinase/NF-kappaB signaling;IEA|GO:0043161;proteasome-mediated ubiquitin-dependent protein catabolic process;TAS|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;TAS|GO:0043687;post-translational protein modification;TAS|GO:0045862;positive regulation of proteolysis;IMP|GO:0045879;negative regulation of smoothened signaling pathway;TAS|GO:0045892;negative regulation of transcription, DNA-templated;IMP|GO:0045893;positive regulation of transcription, DNA-templated;ISS|GO:0048511;rhythmic process;IEA|GO:0050852;T cell receptor signaling pathway;TAS|GO:0051403;stress-activated MAPK cascade;TAS|GO:0051437;positive regulation of ubiquitin-protein ligase activity involved in regulation of mitotic cell cycle transition;TAS|GO:0051726;regulation of cell cycle;IEA|GO:0060444;branching involved in mammary gland duct morphogenesis;IEA|GO:0060828;regulation of canonical Wnt signaling pathway;IC|GO:0061136;regulation of proteasomal protein catabolic process;IEA|GO:0071407;cellular response to organic cyclic compound;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0019005;SCF ubiquitin ligase complex;IDA	GO:0004842;ubiquitin-protein transferase activity;EXP|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IDA|GO:0016874;ligase activity;IEA|GO:0045309;protein phosphorylated amino acid binding;IEA|GO:0046983;protein dimerization activity;IEA|GO:0061630;ubiquitin protein ligase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/BTRC		https://hpo.jax.org/app/browse/search?q=BTRC&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603482	http://www.informatics.jax.org/searchtool/Search.do?query=BTRC&submit=Quick%0D%11716ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=BTRC
10_101.305_148.305	Chr10:78740262-120743937	1.191	C10orf62	ENSG00000203942	chromosome 10 open reading frame 62	chr10:99349450-99350690			 				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/C10orf62				http://www.informatics.jax.org/searchtool/Search.do?query=C10orf62&submit=Quick%0D%17169ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C10orf62
10_101.305_148.305	Chr10:78740262-120743937	1.191	C10orf76	ENSG00000120029	chromosome 10 open reading frame 76	chr10:103605356-103815950		Alzheimer's disease 	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/C10orf76	https://www.uniprot.org/uniprot/Q5T2E6			http://www.informatics.jax.org/searchtool/Search.do?query=C10orf76&submit=Quick%0D%5153ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C10orf76
10_101.305_148.305	Chr10:78740262-120743937	1.191	C10orf82	ENSG00000165863	chromosome 10 open reading frame 82	chr10:118423207-118429775			Male mice homozygous for a mutation are viable and show normal fertility.					http://www.genecards.org/index.php?path=/Search/keyword/C10orf82				http://www.informatics.jax.org/searchtool/Search.do?query=C10orf82&submit=Quick%0D%11642ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C10orf82
10_101.305_148.305	Chr10:78740262-120743937	1.191	C10orf95	ENSG00000120055	chromosome 10 open reading frame 95	chr10:104209594-104211300								http://www.genecards.org/index.php?path=/Search/keyword/C10orf95	https://www.uniprot.org/uniprot/A0A1B0GTG0			http://www.informatics.jax.org/searchtool/Search.do?query=C10orf95&submit=Quick%0D%5158ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C10orf95
10_101.305_148.305	Chr10:78740262-120743937	1.191	C10orf99	ENSG00000188373	chromosome 10 open reading frame 99	chr10:85933494-85945050			Homozygous mutant mice exhibit an increased mean serum IgG2a response to ovalbumin challenge.		GO:0042742;defense response to bacterium;IEA|GO:0050830;defense response to Gram-positive bacterium;IDA|GO:0050832;defense response to fungus;IDA|GO:0051782;negative regulation of cell division;IDA|GO:1902807;negative regulation of cell cycle G1/S phase transition;IDA	GO:0005576;extracellular region;IDA|GO:0005615;extracellular space;IEA	GO:0005125;cytokine activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/C10orf99				http://www.informatics.jax.org/searchtool/Search.do?query=C10orf99&submit=Quick%0D%16023ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C10orf99
22_4.194_23.194	Chr22:17733575-25291782	0.374	C22orf15	ENSG00000273579	chromosome 22 open reading frame 15	chr22:24105208-24108048			 					http://www.genecards.org/index.php?path=/Search/keyword/C22orf15				http://www.informatics.jax.org/searchtool/Search.do?query=C22orf15&submit=Quick%0D%20954ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C22orf15
22_4.194_23.194	Chr22:17733575-25291782	0.374	C22orf29	ENSG00000215012	retrotransposon Gag like 10	chr22:19833661-19842419			 		GO:0006915;apoptotic process;IEA|GO:0051881;regulation of mitochondrial membrane potential;IMP|GO:0097345;mitochondrial outer membrane permeabilization;IMP	GO:0005739;mitochondrion;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/C22orf29				http://www.informatics.jax.org/searchtool/Search.do?query=C22orf29&submit=Quick%0D%18298ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C22orf29
22_4.194_23.194	Chr22:17733575-25291782	0.374	C22orf39	ENSG00000242259	chromosome 22 open reading frame 39	chr22:19338891-19435755			Mutant mice are viable, and have no obvious abnormalites.				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/C22orf39				http://www.informatics.jax.org/searchtool/Search.do?query=C22orf39&submit=Quick%0D%19717ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=C22orf39
22_4.194_23.194	Chr22:17733575-25291782	0.374	CABIN1	ENSG00000099991	calcineurin binding protein 1	chr22:24407642-24574596	Calcineurin plays an important role in the T-cell receptor-mediated signal transduction pathway. The protein encoded by this gene binds specifically to the activated form of calcineurin and inhibits calcineurin-mediated signal transduction. The encoded protein is found in the nucleus and contains a leucine zipper domain as well as several PEST motifs, sequences which confer targeted degradation to those proteins which contain them. Alternative splicing results in multiple transcript variants encoding two different isoforms. [provided by RefSeq, Jan 2011]	Type 2 Diabetes| edema | rosiglitazone; hepatitis C; Schizophrenia; Heart Failure; Tobacco Use Disorder; hepatocellular carcinoma	Homozygous null mutants exhibit embryonic lethality during organogenesis. Mice producing a truncated protein exhibit elevated levels of serum IgG1, IgG2b and IgE, produce more IgG1 in response to T-cell dependent antigen, and have enhanced expression of cytokines in response to anti-CD3 stimulation.	Formation of Senescence-Associated Heterochromatin Foci (SAHF)	GO:0006336;DNA replication-independent nucleosome assembly;IEA|GO:0007166;cell surface receptor signaling pathway;NAS|GO:0016569;covalent chromatin modification;IEA|GO:0043086;negative regulation of catalytic activity;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;IDA|GO:0016235;aggresome;IDA	GO:0004864;protein phosphatase inhibitor activity;NAS|GO:0031491;nucleosome binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CABIN1	https://www.uniprot.org/uniprot/Q9Y6J0		https://www.ncbi.nlm.nih.gov/omim/?term=604251	http://www.informatics.jax.org/searchtool/Search.do?query=CABIN1&submit=Quick%0D%2368ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CABIN1
10_101.305_148.305	Chr10:78740262-120743937	1.191	CACUL1	ENSG00000151893	CDK2 associated cullin domain 1	chr10:120433679-120514761		Asthma; Potassium	 		GO:0000082;G1/S transition of mitotic cell cycle;IMP|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0007049;cell cycle;IEA|GO:0008284;positive regulation of cell proliferation;IMP|GO:0042787;protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IBA|GO:0045860;positive regulation of protein kinase activity;IMP	GO:0031461;cullin-RING ubiquitin ligase complex;IBA	GO:0005515;protein binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0031625;ubiquitin protein ligase binding;IBA|GO:0061630;ubiquitin protein ligase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CACUL1	https://www.uniprot.org/uniprot/Q86Y37			http://www.informatics.jax.org/searchtool/Search.do?query=CACUL1&submit=Quick%0D%9486ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CACUL1
10_101.305_148.305	Chr10:78740262-120743937	1.191	CALHM1	ENSG00000185933	calcium homeostasis modulator 1	chr10:105213144-105218645	This gene encodes a calcium channel that plays a role in processing of amyloid-beta precursor protein. A polymorphism at this locus has been reported to be associated with susceptibility to late-onset Alzheimer's disease in some populations, but the pathogenicity of this polymorphism is unclear.[provided by RefSeq, Mar 2010]	null; Alzheimer's disease ; Alzheimer's disease	Mice homozygous for a knock-out allele exhibit altered cortical neuron electrical properties.		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IDA|GO:0006816;calcium ion transport;IEA|GO:0015867;ATP transport;IEA|GO:0034765;regulation of ion transmembrane transport;IDA|GO:0050909;sensory perception of taste;IEA|GO:0050913;sensory perception of bitter taste;IEA|GO:0050916;sensory perception of sweet taste;IEA|GO:0050917;sensory perception of umami taste;IEA|GO:0051260;protein homooligomerization;IDA|GO:0070588;calcium ion transmembrane transport;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005227;calcium activated cation channel activity;IDA|GO:0005244;voltage-gated ion channel activity;IDA|GO:0005245;voltage-gated calcium channel activity;IEA|GO:0005262;calcium channel activity;IEA|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CALHM1			https://www.ncbi.nlm.nih.gov/omim/?term=612234	http://www.informatics.jax.org/searchtool/Search.do?query=CALHM1&submit=Quick%0D%15526ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CALHM1
10_101.305_148.305	Chr10:78740262-120743937	1.191	CALHM2	ENSG00000138172	calcium homeostasis modulator 2	chr10:105206543-105212660		Alzheimer's disease; Alzheimer's disease 	 		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0034220;ion transmembrane transport;IBA|GO:0098655;cation transmembrane transport;IEA	GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005261;cation channel activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CALHM2	https://www.uniprot.org/uniprot/Q9HA72		https://www.ncbi.nlm.nih.gov/omim/?term=612235	http://www.informatics.jax.org/searchtool/Search.do?query=CALHM2&submit=Quick%0D%7690ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CALHM2
10_101.305_148.305	Chr10:78740262-120743937	1.191	CALHM3	ENSG00000183128	calcium homeostasis modulator 3	chr10:105232561-105238997		Alzheimer's disease ; Alzheimer's disease	Mice homozygous for a knock-out allele exhibit impaired voltage-activated nonselective currents, avoidance of bitter and salty taste, and loss of preference for sweet and unami.		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0034220;ion transmembrane transport;IBA|GO:0098655;cation transmembrane transport;IEA	GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005261;cation channel activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CALHM3				http://www.informatics.jax.org/searchtool/Search.do?query=CALHM3&submit=Quick%0D%14926ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CALHM3
2_252.744_266.744	Chr2:235528138-241561721	0.223	CAPN10	ENSG00000142330	calpain 10	chr2:241526133-241557122	Calpains represent a ubiquitous, well-conserved family of calcium-dependent cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large catalytic subunit has four domains: domain I, the N-terminal regulatory domain that is processed upon calpain activation; domain II, the protease domain; domain III, a linker domain of unknown function; and domain IV, the calmodulin-like calcium-binding domain. This gene encodes a large subunit. It is an atypical calpain in that it lacks the calmodulin-like calcium-binding domain and instead has a divergent C-terminal domain. It is similar in organization to calpains 5 and 6. This gene is associated with type 2 or non-insulin-dependent diabetes mellitus (NIDDM), and is located within the NIDDM1 region. Multiple alternative transcript variants have been described for this gene. [provided by RefSeq, Sep 2010]	Type 2 diabetes; body mass insulin; insulin resistance; fatty acid; normal variation; atherosclerosis; hirsutism; insulin obesity; reduced muscle mRNA levels and insulin resistance; Hypertension; Pre-Eclampsia; Coronary Disease; Adrenal Hyperplasia, Congenital|Hyperandrogenism; hypertension; glucose; Atherosclerosis|Hypertension|Macular Degeneration|Prostatic Neoplasms; insulin; glucose; polycystic ovary syndrome; Diabetes mellitus type II|Diabetes Mellitus, Type 2; glucose tolerance; polycystic ovary syndrome; stroke, ischemic; Alzheimer's disease ; Kidney Failure, Chronic; diabetes, type 2; insulin; polycystic ovary; Diabetes, Gestational; insulin; glucose; C-peptide; fatty acid; schizophrenia; Obesity, Morbid; Insulin Resistance|Metabolic Syndrome X|Polycystic Ovary Syndrome; Diabetes mellitus|Diabetes mellitus type II|Diabetes Mellitus, Type 2; cholesterol; diabetes, type 2; diabetes, gestational; insulin; glucose; diabetes, type 2; insulin; glucose; C-peptide; fatty acid; tacrolimus; polycystic ovarian syndrome; colorectal cancer; Insulin Resistance|Polycystic Ovary Syndrome; laryngeal cancer; obesity; diabetes, type 2; polycystic ovarian syndrome; null; diabetes, type 2; nephropathy, diabetic; Diabetes Mellitus|Hypertension; glucose metabolism; diabetes, type 2; insulin; metabolic syndrome; Diabetes mellitus type II|Diabetes Mellitus, Type 2|pancreatic neoplasm|Pancreatic Neoplasms; reduced beta(3)-adrenoceptor function; triglycerides; obesity; Polycystic Ovary Syndrome; obesity|Type 2 diabetes; body mass; hemoglobin A(1c); diabetes, type 2; glucose tolerance; microvascular function; hypertension	Mice homozygous for a knock-out allele exhibit resistance to ryanodine- and palmitate-induced pancreatic apoptosis.  Mice homozygous for a different knock-out allele exhibit increased adiposity, body and organ weights, and leptin serum levels on background containing LG/J.	Degradation of the extracellular matrix	GO:0006508;proteolysis;IMP|GO:0006921;cellular component disassembly involved in execution phase of apoptosis;IC|GO:0031532;actin cytoskeleton reorganization;ISS|GO:0032024;positive regulation of insulin secretion;IMP|GO:0032388;positive regulation of intracellular transport;ISS|GO:0032869;cellular response to insulin stimulus;IMP|GO:0046326;positive regulation of glucose import;IMP|GO:0097050;type B pancreatic cell apoptotic process;IDA|GO:2000676;positive regulation of type B pancreatic cell apoptotic process;IEA	GO:0005622;intracellular;IEA|GO:0005739;mitochondrion;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;ISS	GO:0000149;SNARE binding;ISS|GO:0004198;calcium-dependent cysteine-type endopeptidase activity;IMP|GO:0008092;cytoskeletal protein binding;ISS|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CAPN10	https://www.uniprot.org/uniprot/Q9HC96		https://www.ncbi.nlm.nih.gov/omim/?term=605286	http://www.informatics.jax.org/searchtool/Search.do?query=CAPN10&submit=Quick%0D%8276ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CAPN10
10_101.305_148.305	Chr10:78740262-120743937	1.191	CASP7	ENSG00000165806	caspase 7	chr10:115438942-115490662	This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. The precursor of the encoded protein is cleaved by caspase 3 and 10, is activated upon cell death stimuli and induces apoptosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]	Arthritis, Rheumatoid|; colorectal cancer; Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Neovascularization, Pathologic; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Endometrial Neoplasms|; rheumatoid arthritis; Gastrointestinal Stromal Tumors; esophageal adenocarcinoma; smoking cessation; lung cancer; Type 2 Diabetes| edema | rosiglitazone; Adenocarcinoma|Neoplasms, Prostatic|Prostatic Neoplasms; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; Magnesium; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Alzheimer's disease ; benzene haematotoxicity; Lymphoma, Non-Hodgkin; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; lung cancer ; longevity; Adenocarcinoma|Lymphatic Metastasis|Stomach Neoplasms; Alzheimer Disease|Alzheimer's Disease|Amnesia; diabetes, type 1; Tobacco Use Disorder; multiple sclerosis	Mice homozygous for a targeted mutation have normal appearance, organ morphology and lymphoid development.	Caspase-mediated cleavage of cytoskeletal proteins	GO:0006508;proteolysis;IEA|GO:0006915;apoptotic process;TAS|GO:0007507;heart development;IEA|GO:0007568;aging;IEA|GO:0008635;activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c;TAS|GO:0009411;response to UV;IEA|GO:0016485;protein processing;IEA|GO:0051402;neuron apoptotic process;IEA|GO:0072734;cellular response to staurosporine;IMP|GO:0097194;execution phase of apoptosis;TAS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0004190;aspartic-type endopeptidase activity;IEA|GO:0004197;cysteine-type endopeptidase activity;IEA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0097153;cysteine-type endopeptidase activity involved in apoptotic process;IEA|GO:0097200;cysteine-type endopeptidase activity involved in execution phase of apoptosis;IMP	http://www.genecards.org/index.php?path=/Search/keyword/CASP7			https://www.ncbi.nlm.nih.gov/omim/?term=601761	http://www.informatics.jax.org/searchtool/Search.do?query=CASP7&submit=Quick%0D%11630ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CASP7
10_101.305_148.305	Chr10:78740262-120743937	1.191	CC2D2B	ENSG00000188649	coiled-coil and C2 domain containing 2B	chr10:97733786-97792441		Alcohol dependence ; Alzheimer's disease 	 					http://www.genecards.org/index.php?path=/Search/keyword/CC2D2B				http://www.informatics.jax.org/searchtool/Search.do?query=CC2D2B&submit=Quick%0D%16077ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CC2D2B
22_4.194_23.194	Chr22:17733575-25291782	0.374	CCDC116	ENSG00000161180	coiled-coil domain containing 116	chr22:21987005-21991616			 			GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005856;cytoskeleton;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CCDC116				http://www.informatics.jax.org/searchtool/Search.do?query=CCDC116&submit=Quick%0D%10561ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC116
10_101.305_148.305	Chr10:78740262-120743937	1.191	CCDC172	ENSG00000182645	coiled-coil domain containing 172	chr10:118083940-118139541		Tobacco Use Disorder; Iron	 				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CCDC172				http://www.informatics.jax.org/searchtool/Search.do?query=CCDC172&submit=Quick%0D%14832ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCDC172
10_101.305_148.305	Chr10:78740262-120743937	1.191	CCNJ	ENSG00000107443	cyclin J	chr10:97803151-97820627			 			GO:0005634;nucleus;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CCNJ	https://www.uniprot.org/uniprot/Q5T5M9			http://www.informatics.jax.org/searchtool/Search.do?query=CCNJ&submit=Quick%0D%3607ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCNJ
10_101.305_148.305	Chr10:78740262-120743937	1.191	CCSER2	ENSG00000107771	coiled-coil serine rich protein 2	chr10:86088342-86278273		Tobacco Use Disorder; Lipids; Triglycerides; Alzheimer's disease 	 		GO:0001578;microtubule bundle formation;IEA	GO:0015630;microtubule cytoskeleton;IEA	GO:0008017;microtubule binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CCSER2	https://www.uniprot.org/uniprot/Q9H7U1			http://www.informatics.jax.org/searchtool/Search.do?query=CCSER2&submit=Quick%0D%3634ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CCSER2
22_4.194_23.194	Chr22:17733575-25291782	0.374	CDC45	ENSG00000093009	cell division cycle 45	chr22:19466982-19508135	The protein encoded by this gene was identified by its strong similarity with Saccharomyces cerevisiae Cdc45, an essential protein required to the initiation of DNA replication. Cdc45 is a member of the highly conserved multiprotein complex including Cdc6/Cdc18, the minichromosome maintenance proteins (MCMs) and DNA polymerase, which is important for early steps of DNA replication in eukaryotes. This protein has been shown to interact with MCM7 and DNA polymerase alpha. Studies of the similar gene in Xenopus suggested that this protein play a pivotal role in the loading of DNA polymerase alpha onto chromatin. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]	Colorectal Neoplasms|; Leukemia, Lymphocytic, Chronic, B-Cell; Tobacco Use Disorder	Homozygous mutant embryos do not develop after implantation, resulting in embryonic lethality between E4.5-E5.5. Heterozygous animals appear normal and fertile.	Activation of the pre-replicative complex	GO:0000076;DNA replication checkpoint;TAS|GO:0000082;G1/S transition of mitotic cell cycle;TAS|GO:0000083;regulation of transcription involved in G1/S transition of mitotic cell cycle;TAS|GO:0000727;double-strand break repair via break-induced replication;IBA|GO:0006260;DNA replication;TAS|GO:0006267;pre-replicative complex assembly involved in nuclear cell cycle DNA replication;IBA|GO:0006270;DNA replication initiation;TAS|GO:0007049;cell cycle;IEA|GO:0031938;regulation of chromatin silencing at telomere;IBA|GO:0032508;DNA duplex unwinding;IEA|GO:1900087;positive regulation of G1/S transition of mitotic cell cycle;IBA|GO:1902977;mitotic DNA replication preinitiation complex assembly;IBA	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005656;nuclear pre-replicative complex;IBA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0031261;DNA replication preinitiation complex;IBA|GO:0031298;replication fork protection complex;IBA	GO:0003682;chromatin binding;IBA|GO:0003688;DNA replication origin binding;IBA|GO:0003697;single-stranded DNA binding;IBA|GO:0005515;protein binding;IPI|GO:0043138;3'-5' DNA helicase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CDC45	https://www.uniprot.org/uniprot/O75419	https://hpo.jax.org/app/browse/search?q=CDC45&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603465	http://www.informatics.jax.org/searchtool/Search.do?query=CDC45&submit=Quick%0D%2212ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDC45
10_101.305_148.305	Chr10:78740262-120743937	1.191	CDHR1	ENSG00000148600	cadherin related family member 1	chr10:85954410-85979377	This gene belongs to the cadherin superfamily of calcium-dependent cell adhesion molecules. The encoded protein is a photoreceptor-specific cadherin that plays a role in outer segment disc morphogenesis. Mutations in this gene are associated with inherited retinal dystrophies. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2013]	retinitis pigmentosa; Leber congenital amaurosis; Usher Syndrome Type I; Cholesterol; Alzheimer's disease 	Mice homozygous for a targeted null mutation exhibit progressive degeneration of retinal photoreceptor cells and a slight reduction in light responses.		GO:0007155;cell adhesion;IEA|GO:0007156;homophilic cell adhesion via plasma membrane adhesion molecules;IEA|GO:0009987;cellular process;IEA|GO:0045494;photoreceptor cell maintenance;IEA	GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0042622;photoreceptor outer segment membrane;IEA	GO:0005509;calcium ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CDHR1	https://www.uniprot.org/uniprot/Q96JP9	https://hpo.jax.org/app/browse/search?q=CDHR1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609502	http://www.informatics.jax.org/searchtool/Search.do?query=CDHR1&submit=Quick%0D%9136ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CDHR1
22_4.194_23.194	Chr22:17733575-25291782	0.374	CECR2	ENSG00000099954	CECR2, histone acetyl-lysine reader	chr22:17840837-18037850	This gene encodes a bromodomain-containing protein that is involved in chromatin remodeling, and may additionally play a role in DNA damage response. The encoded protein functions as part of an ATP-dependent complex that is involved in neurulation. This gene is a candidate gene for Cat Eye Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]	Tobacco Use Disorder	Homozygous mutant mice display varied penetrance of exencephaly depending on genetic background.		GO:0000910;cytokinesis;NAS|GO:0001842;neural fold formation;IEA|GO:0001843;neural tube closure;IEA|GO:0006309;apoptotic DNA fragmentation;TAS|GO:0007010;cytoskeleton organization;NAS|GO:0007338;single fertilization;IEA|GO:0016192;vesicle-mediated transport;NAS|GO:0016569;covalent chromatin modification;IEA|GO:0021915;neural tube development;IEA|GO:0043044;ATP-dependent chromatin remodeling;IEA|GO:0060122;inner ear receptor stereocilium organization;IEA|GO:0090102;cochlea development;IEA|GO:0097194;execution phase of apoptosis;IDA	GO:0005634;nucleus;IDA|GO:0005719;nuclear euchromatin;IEA|GO:0031010;ISWI-type complex;IEA|GO:0090537;CERF complex;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CECR2	https://www.uniprot.org/uniprot/Q9BXF3		https://www.ncbi.nlm.nih.gov/omim/?term=607576	http://www.informatics.jax.org/searchtool/Search.do?query=CECR2&submit=Quick%0D%2358ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CECR2
10_101.305_148.305	Chr10:78740262-120743937	1.191	CEP55	ENSG00000138180	centrosomal protein 55	chr10:95256389-95288849		Alzheimer's disease 	 		GO:0000281;mitotic cytokinesis;IGI|GO:0000920;cell separation after cytokinesis;IMP|GO:0007049;cell cycle;IEA|GO:0045184;establishment of protein localization;IMP|GO:0051301;cell division;IEA	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005814;centriole;IEA|GO:0005815;microtubule organizing center;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IDA|GO:0030496;midbody;IDA|GO:0032154;cleavage furrow;IEA|GO:0045171;intercellular bridge;IEA|GO:0090543;Flemming body;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CEP55	https://www.uniprot.org/uniprot/Q53EZ4	https://hpo.jax.org/app/browse/search?q=CEP55&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610000	http://www.informatics.jax.org/searchtool/Search.do?query=CEP55&submit=Quick%0D%7692ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CEP55
10_101.305_148.305	Chr10:78740262-120743937	1.191	CFAP43	ENSG00000197748	Cilia And Flagella Associated Protein 43	chr10:105889646-105992120	This gene encodes a member of the cilia- and flagella-associated protein family. [provided by RefSeq, Sep 2016]	ADHD | attention-deficit hyperactivity disorder; Attention Deficit Disorder with Hyperactivity; Type 2 Diabetes| edema | rosiglitazone; Alzheimer's disease 	Mice homozygous for a knock-out allele exhibit complete male sterility, asthenozoospermia, and teratozoospermia characterized by short, thick, and coiled flagella and sperm axonemal defects.					http://www.genecards.org/index.php?path=/Search/keyword/CFAP43	https://www.uniprot.org/uniprot/Q8NDM7	https://hpo.jax.org/app/browse/search?q=CFAP43&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=617558	http://www.informatics.jax.org/searchtool/Search.do?query=CFAP43&submit=Quick%0D%0ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CFAP43
10_101.305_148.305	Chr10:78740262-120743937	1.191	CH25H	ENSG00000138135	cholesterol 25-hydroxylase	chr10:90965694-90967071	This is an intronless gene that is involved in cholesterol and lipid metabolism. The encoded protein is a membrane protein and contains clusters of histidine residues essential for catalytic activity. Unlike most other sterol hydroxylases, this enzyme is a member of a small family of enzymes that utilize diiron cofactors to catalyze the hydroxylation of hydrophobic substrates. [provided by RefSeq, Jul 2008]	Alzheimer's disease ; Alzheimer's Disease; Alzheimer's disease	Mice homozygous for a knock-out allele exhibit increased IgG2a and IgA in the sera, lungs, and intestinal mucosa and increased IgG2b and IgG3 in the intestinal mucosa.	Synthesis of bile acids and bile salts	GO:0006629;lipid metabolic process;TAS|GO:0006694;steroid biosynthetic process;IEA|GO:0006699;bile acid biosynthetic process;TAS|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0008610;lipid biosynthetic process;IEA|GO:0016126;sterol biosynthetic process;IEA|GO:0035754;B cell chemotaxis;IEA|GO:0055114;oxidation-reduction process;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0001567;cholesterol 25-hydroxylase activity;IEA|GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0008395;steroid hydroxylase activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CH25H	https://www.uniprot.org/uniprot/O95992		https://www.ncbi.nlm.nih.gov/omim/?term=604551	http://www.informatics.jax.org/searchtool/Search.do?query=CH25H&submit=Quick%0D%7682ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CH25H
22_4.194_23.194	Chr22:17733575-25291782	0.374	CHCHD10	ENSG00000273607	coiled-coil-helix-coiled-coil-helix domain containing 10	chr22:24108021-24110630	This gene encodes a mitochondrial protein that is enriched at cristae junctions in the intermembrane space. It may play a role in cristae morphology maintenance or oxidative phosphorylation. Mutations in this gene cause frontotemporal dementia and/or amyotrophic lateral sclerosis-2. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 7 and 19. [provided by RefSeq, Aug 2014]	Type 2 Diabetes| edema | rosiglitazone; Acquired Immunodeficiency Syndrome|Disease Progression	Homozygous deletion results in mild mitochondrial respiration anomalies in skeletal muscle.	Mitochondrial protein import	GO:0006119;oxidative phosphorylation;IMP|GO:0006754;ATP biosynthetic process;IMP|GO:0007005;mitochondrion organization;IMP|GO:2000984;negative regulation of ATP citrate synthase activity;IMP	GO:0005634;nucleus;IBA|GO:0005739;mitochondrion;IDA|GO:0005758;mitochondrial intermembrane space;IDA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/CHCHD10		https://hpo.jax.org/app/browse/search?q=CHCHD10&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=615903	http://www.informatics.jax.org/searchtool/Search.do?query=CHCHD10&submit=Quick%0D%20960ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CHCHD10
10_101.305_148.305	Chr10:78740262-120743937	1.191	CHUK	ENSG00000213341	conserved helix-loop-helix ubiquitous kinase	chr10:101948055-101989376	This gene encodes a member of the serine/threonine protein kinase family. The encoded protein, a component of a cytokine-activated protein complex that is an inhibitor of the essential transcription factor NF-kappa-B complex, phosphorylates sites that trigger the degradation of the inhibitor via the ubiquination pathway, thereby activating the transcription factor. [provided by RefSeq, Jul 2008]	Arthritis, Rheumatoid|Rheumatoid Arthritis|Anti-TNF Response; Lymphoma, Non-Hodgkin; Cleft Lip|Cleft Palate; benzene haematotoxicity; Fatty Liver; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Hodgkin Disease; HIV; Chronic renal failure|Kidney Failure, Chronic; Bone Mineral Density; Sjogren's Syndrome; Hepatitis C|Remission, Spontaneous; plasma levels of liver enzymes; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; liver enzymes; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; atherosclerosis; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; hypertension; breast cancer; respiratory syncytial virus bronchiolitis; Alzheimer's disease ; Multiple Myeloma; Type 2 Diabetes| edema | rosiglitazone	Homozygotes for targeted null mutations die neonataly and exhibit thickened, taut, adhesive skin that prevents appendages from protruding from the trunk, absence of whiskers, skeletal abnormalities, and closed esophagus.	IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation	GO:0002223;stimulatory C-type lectin receptor signaling pathway;TAS|GO:0002479;antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent;TAS|GO:0003009;skeletal muscle contraction;IEA|GO:0006468;protein phosphorylation;TAS|GO:0006954;inflammatory response;TAS|GO:0006955;immune response;TAS|GO:0007249;I-kappaB kinase/NF-kappaB signaling;TAS|GO:0007252;I-kappaB phosphorylation;TAS|GO:0007266;Rho protein signal transduction;IEA|GO:0009615;response to virus;TAS|GO:0009636;response to toxic substance;IEA|GO:0009653;anatomical structure morphogenesis;TAS|GO:0010033;response to organic substance;IEA|GO:0010034;response to acetate;IEA|GO:0010803;regulation of tumor necrosis factor-mediated signaling pathway;TAS|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IBA|GO:0032496;response to lipopolysaccharide;IEA|GO:0033194;response to hydroperoxide;IEA|GO:0033209;tumor necrosis factor-mediated signaling pathway;IBA|GO:0034614;cellular response to reactive oxygen species;IMP|GO:0035666;TRIF-dependent toll-like receptor signaling pathway;TAS|GO:0038061;NIK/NF-kappaB signaling;TAS|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0042493;response to drug;IEA|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;TAS|GO:0043200;response to amino acid;IEA|GO:0045087;innate immune response;TAS|GO:0045893;positive regulation of transcription, DNA-templated;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0050852;T cell receptor signaling pathway;TAS|GO:0051092;positive regulation of NF-kappaB transcription factor activity;TAS|GO:0051146;striated muscle cell differentiation;IEA|GO:0051403;stress-activated MAPK cascade;TAS|GO:0070423;nucleotide-binding oligomerization domain containing signaling pathway;TAS|GO:0071276;cellular response to cadmium ion;IMP|GO:0071356;cellular response to tumor necrosis factor;IDA|GO:0098586;cellular response to virus;IMP|GO:1902741;positive regulation of interferon-alpha secretion;IMP	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0008385;IkappaB kinase complex;TAS|GO:0009898;cytoplasmic side of plasma membrane;ISS|GO:0035631;CD40 receptor complex;ISS|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IDA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008384;IkappaB kinase activity;TAS|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042803;protein homodimerization activity;IDA|GO:0046982;protein heterodimerization activity;IDA|GO:0097110;scaffold protein binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CHUK		https://hpo.jax.org/app/browse/search?q=CHUK&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600664	http://www.informatics.jax.org/searchtool/Search.do?query=CHUK&submit=Quick%0D%18114ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CHUK
22_4.194_23.194	Chr22:17733575-25291782	0.374	CLDN5	ENSG00000184113	claudin 5	chr22:19510547-19515068	This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets. Mutations in this gene have been found in patients with velocardiofacial syndrome. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2008]	schizophrenia; Hip	Homozygous mutation of this gene results in size-selective loosening of the blood-brain barrier. Homozygous mutant neonates gradually cease movement and die within 10 hours after birth.	RUNX1 regulates expression of components of tight junctions	GO:0003151;outflow tract morphogenesis;TAS|GO:0007043;cell-cell junction assembly;IMP|GO:0007179;transforming growth factor beta receptor signaling pathway;IDA|GO:0007612;learning;TAS|GO:0016338;calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules;ISS|GO:0042552;myelination;IEA|GO:0045471;response to ethanol;IEA|GO:0060021;palate development;TAS|GO:0060325;face morphogenesis;TAS|GO:1903142;positive regulation of establishment of endothelial barrier;IMP	GO:0005886;plasma membrane;IEA|GO:0005911;cell-cell junction;IDA|GO:0005923;bicellular tight junction;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016327;apicolateral plasma membrane;IDA|GO:0030054;cell junction;IEA|GO:0030864;cortical actin cytoskeleton;IDA|GO:0033270;paranode region of axon;IEA|GO:0043220;Schmidt-Lanterman incisure;IEA|GO:0070062;extracellular exosome;IDA	GO:0005198;structural molecule activity;IEA|GO:0042802;identical protein binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/CLDN5			https://www.ncbi.nlm.nih.gov/omim/?term=602101	http://www.informatics.jax.org/searchtool/Search.do?query=CLDN5&submit=Quick%0D%15135ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLDN5
22_4.194_23.194	Chr22:17733575-25291782	0.374	CLTCL1	ENSG00000070371	clathrin heavy chain like 1	chr22:19166986-19279239	This gene is a member of the clathrin heavy chain family and encodes a major protein of the polyhedral coat of coated pits and vesicles. Chromosomal aberrations involving this gene are associated with meningioma, DiGeorge syndrome, and velo-cardio-facial syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]	Tobacco Use Disorder	 	Clathrin-mediated endocytosis	GO:0000278;mitotic cell cycle;IDA|GO:0006886;intracellular protein transport;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0007165;signal transduction;IEA|GO:0009653;anatomical structure morphogenesis;TAS|GO:0016192;vesicle-mediated transport;IEA|GO:0042147;retrograde transport, endosome to Golgi;IMP|GO:0046326;positive regulation of glucose import;IMP|GO:0061024;membrane organization;TAS	GO:0005622;intracellular;IEA|GO:0005770;late endosome;IDA|GO:0005802;trans-Golgi network;IDA|GO:0005819;spindle;IDA|GO:0005829;cytosol;TAS|GO:0005905;clathrin-coated pit;IDA|GO:0016020;membrane;IDA|GO:0030130;clathrin coat of trans-Golgi network vesicle;IEA|GO:0030132;clathrin coat of coated pit;IEA|GO:0030135;coated vesicle;IDA|GO:0030136;clathrin-coated vesicle;IDA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0070062;extracellular exosome;IDA|GO:0097443;sorting endosome;IDA	GO:0004871;signal transducer activity;TAS|GO:0005198;structural molecule activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CLTCL1	https://www.uniprot.org/uniprot/P53675		https://www.ncbi.nlm.nih.gov/omim/?term=601273	http://www.informatics.jax.org/searchtool/Search.do?query=CLTCL1&submit=Quick%0D%1352ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CLTCL1
10_101.305_148.305	Chr10:78740262-120743937	1.191	CNNM1	ENSG00000119946	cyclin and CBS domain divalent metal cation transport mediator 1	chr10:101088856-101154087	This gene encodes a member of the ancient conserved domain protein family. The encoded protein may bind copper. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]	Platelet Count; Alzheimer's disease ; Stroke; Tobacco Use Disorder	 		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/CNNM1	https://www.uniprot.org/uniprot/Q9NRU3		https://www.ncbi.nlm.nih.gov/omim/?term=607802	http://www.informatics.jax.org/searchtool/Search.do?query=CNNM1&submit=Quick%0D%5143ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CNNM1
10_101.305_148.305	Chr10:78740262-120743937	1.191	CNNM2	ENSG00000148842	cyclin and CBS domain divalent metal cation transport mediator 2	chr10:104678050-104849978	This gene encodes a member of the ancient conserved domain containing protein family. Members of this protein family contain a cyclin box motif and have structural similarity to the cyclins. The encoded protein may play an important role in magnesium homeostasis by mediating the epithelial transport and renal reabsorption of Mg2+. Mutations in this gene are associated with renal hypomagnesemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]	Tobacco Use Disorder; systolic blood pressure; hypertension; Parkinson's disease; Alzheimer's disease 	 		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0010960;magnesium ion homeostasis;IMP|GO:0015693;magnesium ion transport;IEA|GO:1903830;magnesium ion transmembrane transport;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016323;basolateral plasma membrane;IMP|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005524;ATP binding;IEA|GO:0015095;magnesium ion transmembrane transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CNNM2	https://www.uniprot.org/uniprot/Q9H8M5	https://hpo.jax.org/app/browse/search?q=CNNM2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607803	http://www.informatics.jax.org/searchtool/Search.do?query=CNNM2&submit=Quick%0D%9169ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CNNM2
10_101.305_148.305	Chr10:78740262-120743937	1.191	COL17A1	ENSG00000065618	collagen type XVII alpha 1 chain	chr10:105791044-105845760	This gene encodes the alpha chain of type XVII collagen. Unlike most collagens, collagen XVII is a transmembrane protein. Collagen XVII is a structural component of hemidesmosomes, multiprotein complexes at the dermal-epidermal basement membrane zone that mediate adhesion of keratinocytes to the underlying membrane. Mutations in this gene are associated with both generalized atrophic benign and junctional epidermolysis bullosa. Two homotrimeric forms of type XVII collagen exist. The full length form is the transmembrane protein. A soluble form, referred to as either ectodomain or LAD-1, is generated by proteolytic processing of the full length form. [provided by RefSeq, Jul 2008]	kidney aging; Alzheimer's disease ; bullous pemphigoid; Tobacco Use Disorder; periodontitis; Cardiomegaly	Mice homozygous for a knock-out allele are unable to reproduce and display postnatal growth retardation, blisters and erosion at sites of trauma, nonpigmented hair growth associated with hair loss, subepidermal blistering associated with poorly formed hemidesmosomes, and high postnatal lethality.	Collagen chain trimerization	GO:0007160;cell-matrix adhesion;TAS|GO:0008544;epidermis development;TAS|GO:0031581;hemidesmosome assembly;TAS|GO:0050776;regulation of immune response;TAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005604;basement membrane;IEA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0005911;cell-cell junction;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0030056;hemidesmosome;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/COL17A1	https://www.uniprot.org/uniprot/Q9UMD9	https://hpo.jax.org/app/browse/search?q=COL17A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=113811	http://www.informatics.jax.org/searchtool/Search.do?query=COL17A1&submit=Quick%0D%1187ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL17A1
2_252.744_266.744	Chr2:235528138-241561721	0.223	COL6A3	ENSG00000163359	collagen type VI alpha 3 chain	chr2:238232646-238323018	This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, that are found in the amino terminal globular domain of all the alpha chains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in the type VI collagen genes are associated with Bethlem myopathy, a rare autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy. Multiple transcript variants have been identified, but the full-length nature of only some of these variants has been described. [provided by RefSeq, Jun 2009]	hypertension; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; kidney aging; Tobacco Use Disorder; Body Height; Longevity; Prostatic Neoplasms	Mice homozygous for a hypomorphic allele exhibit mild myopathy, decreased skeletal muscle weight, increased collagen deposition in muscles, skeletal muscle interstitial fibrosis and abnormal tendon collagen fibril morphology.	Collagen chain trimerization	GO:0007155;cell adhesion;IEA|GO:0007517;muscle organ development;TAS|GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0030198;extracellular matrix organization;TAS|GO:0030574;collagen catabolic process;TAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IDA|GO:0005581;collagen trimer;IEA|GO:0005589;collagen type VI trimer;TAS|GO:0005615;extracellular space;IDA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0031012;extracellular matrix;IDA|GO:0042383;sarcolemma;IEA|GO:0070062;extracellular exosome;IDA|GO:1903561;extracellular vesicle;IDA	GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0030414;peptidase inhibitor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/COL6A3		https://hpo.jax.org/app/browse/search?q=COL6A3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=120250	http://www.informatics.jax.org/searchtool/Search.do?query=COL6A3&submit=Quick%0D%10944ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COL6A3
22_4.194_23.194	Chr22:17733575-25291782	0.374	COMT	ENSG00000093010	catechol-O-methyltransferase	chr22:19929130-19957498	Catechol-O-methyltransferase catalyzes the transfer of a methyl group from S-adenosylmethionine to catecholamines, including the neurotransmitters dopamine, epinephrine, and norepinephrine. This O-methylation results in one of the major degradative pathways of the catecholamine transmitters. In addition to its role in the metabolism of endogenous substances, COMT is important in the metabolism of catechol drugs used in the treatment of hypertension, asthma, and Parkinson disease. COMT is found in two forms in tissues, a soluble form (S-COMT) and a membrane-bound form (MB-COMT). The differences between S-COMT and MB-COMT reside within the N-termini. Several transcript variants are formed through the use of alternative translation initiation sites and promoters. [provided by RefSeq, Sep 2008]	suicide; Alzheimer's disease; bipolar disorder; major depressive disorder; breast cancer ; obsessive compusive diorder; Problem Behaviors in Youth; prostate carcinoma; Alcoholism; ADHD | oppositional defiant disorder ; esophageal adenocarcinoma; breast cancer; endometrial cancer; ovarian cancer risk; Tobacco Use Disorder; Herpes Simplex; Migraine Disorders; DiGeorge Syndrome|pharyngeal pouch; syndrome; velo-cardio-facial syndrome; 22q11 deletion syndrome; Restless Legs Syndrome; mammographic density; mood pain; morphine response; Narcolepsy; null; estrogen; Obesity; Genital Diseases, Female; Carcinoma, Hepatocellular|Liver Neoplasms; Birth Weight|Fetal Growth Retardation|Intrauterine growth retardation; obesity; Neuralgia; psychiatric manifestations of velo-cardio-facial syndrome; obsessive Compulsive Disorder; bipolar disorder; Crohn Disease|Pain, Postoperative; attention deficit hyperactivity disorder schizotypal personality traits; sleep deprivation; smoking; Cardiovascular Diseases|Diabetes mellitus|Neoplasms; Breast Neoplasms|Mammary Neoplasms; weight gain; fear during childbirth; Psychoses, Substance-Induced; anxiety disorders; sex hormones; bipolar disorder; major depressive disorder; rapid cycling mood disorder; Fatigue Syndrome, Chronic|fatigue syndrome; postviral; Acquired Immunodeficiency Syndrome|Disease Progression; lymphoma; non-Hodgkin's lymphoma; ovarian cancer; DiGeorge Syndrome; Atherosclerosis|Occupational Diseases; Fibromyalgia|Pain; Dyskinesia, Drug-Induced; suicide; personality disorders; hormone disturbance; narcolepsy-cataplexy symptoms; Arthralgia|Osteoarthritis, Hip; Gout; Fibromyalgia; DNA Damage; cortisol secretion; Carcinoma, Renal Cell|Kidney Neoplasms|Renal Cell Carcinoma; heroin abuse; liver cancer; obsessive-compulsive disorder; cognitive ability; Memory Disorders; DiGeorge Syndrome|Hypertrophy; Tourette`s Syndrome; alexithymia; Cell Transformation, Neoplastic; Chromosome Aberrations; anxiety disorder; reward dependence temperament; Stomach Neoplasms; Depression, Postpartum|; alcohol; diabetes, type 2; Obesity|Osteoporosis; estrogens; schizophrenia; tardive dyskinesia; Pregnancy Complications|Prenatal Exposure Delayed Effects|Serotonin Syndrome; testicular germ cell tumor; Bronchial Hyperreactivity|Wounds and Injuries; startle reflex; performance on the Wisconsin Card Sorting Test; BP-Major Depressive; bladder cancer; high- or low-activity allele of catechol-o-methyltransfer; alcohol abuse; Pain|Shoulder Pain; autism; Bone Mineral Density; Speech Disorders|Substance-Related Disorders; epithelial ovarian cancer ; attention deficit disorder conduct disorder oppositional defiant disorder; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms; violent offenders with mental retardation; Neoplasms|Pain; lung cancer; susceptibility to lead; Birth Weight|Prenatal Exposure Delayed Effects; Movement Disorders; bone density sex steroid; anorexia nervosa; Alzheimer's disease ; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; anger and forgiveness traits; monoamine metabolites; Alcoholism|Hypertension; Kidney Failure, Chronic; Psychiatric Disorders; Multisomatoform Disorder; cognitive function; Marijuana Abuse|Psychoses, Substance-Induced; ADHD|sleep; DiGeorge Syndrome|Memory Disorders|pharyngeal pouch; syndrome; Amphetamine-Related Disorders; estradiol; sex hormone binding globulin; Leiomyomatosis|Uterine Neoplasms; financial and psychological risk attitudes; Mental Retardation; Migraine with Aura|Migraine without Aura; Carcinoma, Medullary|Medullary carcinoma|thyroid neoplasm|Thyroid Neoplasms; bipolar affective disorder.; Amyloid Neuropathies, Familial|Constipation|Diarrhea|Gastrointestinal Diseases|Nausea|Vomiting; schizophrenia; depressive disorder, major endocrine regulation; oxidative stress; substance abuse; DiGeorge Syndrome|Ocular Motility Disorders; pharmacogenetic studies; Maduromycosis|Mycetoma; Ache, Low Back|Low Back Pain; bladder cancer leukemia lung cancer; pain response; Chromosome Deletion|DiGeorge Syndrome; prostate cancer; juvenile endogenous attack-like psychoses; Dyspepsia|Helicobacter Infections; Neoplasms; Pain|Temporomandibular Joint Disorders; schizotypal traits; hormone concentrations in postmenopausal women; ovarian cancer ; Sleep Disorders; impulsivity; Hallucinations; anxiety; personality; Autism; Dementia; breast cancer; schizophrenia; suicide; violent behavior; cerebral infarct, atherothrombotic; treatment response in electroconvulsive therapy; Alzheimer Disease|; major depressive disorder; Venous Thrombosis; novelty processing; Subarachnoid Hemorrhage|Vasospasm, Intracranial; Hypertension; Substance Withdrawal Syndrome|Tobacco Use Disorder; multiple sclerosis; Parkinson's disease; dementia; hallucinations; Parkinson's disease; schizophrenia | bipolar disorder; antisocial behavior; Dyslexia; Schizophrenia|bipolar disorder; Pain, Postoperative|Postoperative Nausea and Vomiting; panic disorder; Kidney Failure, Acute|Shock; human spermatogenic defect; menopause; hyperhomocysteinemia; memory impairment; psychoses; aggressive personality traits; drug-related genes ; antidepressant treatment; Bulimia; anxiety-related personality traits; DiGeorge Syndrome|pharyngeal pouch; syndrome; depression; chronic fatigue syndrome; Hypertension|Myocardial Infarction; methamphetamine psychotic disorder; Cocaine-Related Disorders|; Genomic Instability|Mesothelioma|Pleural Neoplasms; Parkinson's disease ; musical aptitude; chronic obstructive pulmonary disease; Acute Coronary Syndrome|; Heroin Dependence; Headache|[D]Pain in head NOS; breast cancer|prostate cancer; neural reward sensitivity; alcoholism attention deficit hyperactivity disorder; methamphetamine use; mamographic density; Obsessive-compulsive disorder ; Lymphoma, Non-Hodgkin; narcolepsy; adenomyosis endometriosis; Fractures, Bone; endometriosis; smoking cessation; Tourette syndrome; headache; psychoses; Ache, Low Back|Intervertebral Disk Degeneration|Low Back Pain; Delay discounting; personality traits; neuroticism; body mass obesity; lung cancer ; Opioid-Related Disorders; normal variation; Type 2 Diabetes| edema | rosiglitazone; Birth Weight|Disorders; Hot Flashes; Schizophrenia; colorectal cancer; Alcoholism|Recurrence; psychosis; Alzheimer's disease|psychosis; obsessive compulsive disorder; methamphetamine abuse; parkinson; Bipolar Disorder; Chromosome Deletion; Endometriosis; Obesity|Weight Loss; Pain, Postoperative|Shoulder Pain; tardive dyskinesia; breast cancer fibroadenoma; Hypertension/complications*; Musculoskeletal Diseases; Hallucinations|Marijuana Abuse; Alzheimer's Disease; urinary estrogen metabolites; decision-making; Vitiligo; alcohol abuse; smoking behavior; uterine leiomyoma; bipolar disorder schizophrenia; Sleep Deprivation; cognition; Pre-Eclampsia; information processing; cholesterol, HDL; cholesterol, LDL; ADHD | attention-deficit hyperactivity disorder; Fibromyalgia|Hyperalgesia|Pain, Intractable; Endometrial Neoplasms; menarche; menopause; smoking behavior; premenstrual dysphoric disorder; Substance-Related Disorders; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal neoplasm|Laryngeal Neoplasms|Mouth Neoplasms|Oesophageal neoplasm|Pharyngeal Neoplasms; cognitive function in children; daily hassles; phobic anxiety; alcoholism; alcohol consumption; Brain Injuries; Adenocarcinoma|Endometrial Neoplasms; Body Weight; shyness; hypertension; mood disorders; testosterone; estradiol; androstenedione; DHEA; progesterone; Leiomyoma|Uterine Neoplasms; Pain; Chronic renal failure|Kidney Failure, Chronic; ADHD | attention deficit hyperactivity disorder; Chromosome Aberrations|Chromosome abnormality|Leiomyoma|Radiation Injuries|Uterine Neoplasms; Gastritis|Helicobacter Infections|Metaplasia; bipolar disorder depressive disorder, major; bone density; height; Marijuana Abuse; risperidone-induced extrapyramidal symptoms; skeletal muscle properties; endometrial cancer; attention deficit hyperactivity disorder; eating disorders; Weight Gain; cirrhosis; liver cancer; hepatitis C, chronic; ADHD; brain activation; cognition, prefrontal; Alcoholism|Heroin Dependence	Mice homozygous for disruption of this gene are viable, fertile, and show no gross or histological abnormalities. However dopamine levels in the frontal cortex of males are increased.  Also, males show increased aggression and females show increased anxiety.	Enzymatic degradation of Dopamine by monoamine oxidase	GO:0006584;catecholamine metabolic process;IEA|GO:0007565;female pregnancy;IEA|GO:0007612;learning;IEA|GO:0007614;short-term memory;IEA|GO:0008210;estrogen metabolic process;IEA|GO:0009712;catechol-containing compound metabolic process;IEA|GO:0014070;response to organic cyclic compound;IEA|GO:0016036;cellular response to phosphate starvation;IEA|GO:0032259;methylation;TAS|GO:0032496;response to lipopolysaccharide;IEA|GO:0032502;developmental process;IEA|GO:0035814;negative regulation of renal sodium excretion;IEA|GO:0042135;neurotransmitter catabolic process;IEA|GO:0042417;dopamine metabolic process;IEA|GO:0042420;dopamine catabolic process;IEA|GO:0042493;response to drug;IEA|GO:0045963;negative regulation of dopamine metabolic process;IEA|GO:0048265;response to pain;IEA|GO:0048609;multicellular organismal reproductive process;IEA|GO:0048662;negative regulation of smooth muscle cell proliferation;IEA|GO:0050668;positive regulation of homocysteine metabolic process;IEA|GO:0051930;regulation of sensory perception of pain;IEA	GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0043197;dendritic spine;IEA|GO:0044297;cell body;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0000287;magnesium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0008168;methyltransferase activity;TAS|GO:0008171;O-methyltransferase activity;TAS|GO:0016206;catechol O-methyltransferase activity;TAS|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0102084;L-dopa O-methyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/COMT	https://www.uniprot.org/uniprot/P21964	https://hpo.jax.org/app/browse/search?q=COMT&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=116790	http://www.informatics.jax.org/searchtool/Search.do?query=COMT&submit=Quick%0D%2213ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COMT
2_252.744_266.744	Chr2:235528138-241561721	0.223	COPS8	ENSG00000198612	COP9 signalosome subunit 8	chr2:237993955-238009109	The protein encoded by this gene is one of the eight subunits of COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The structure and function of COP9 signalosome is similar to that of the 19S regulatory particle of 26S proteasome. COP9 signalosome has been shown to interact with SCF-type E3 ubiquitin ligases and act as a positive regulator of E3 ubiquitin ligases. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]	Body Height	Mice homozygous for a null allele exhibit embryonic lethality, reduced embryonic size and growth, and reduced to absent outgrowth of the inner cell mass of E3.5 embryos.	Neddylation	GO:0000338;protein deneddylation;IDA|GO:0000715;nucleotide-excision repair, DNA damage recognition;TAS|GO:0006283;transcription-coupled nucleotide-excision repair;TAS|GO:0007250;activation of NF-kappaB-inducing kinase activity;IMP|GO:0008285;negative regulation of cell proliferation;IMP|GO:0010387;COP9 signalosome assembly;IEA|GO:0043687;post-translational protein modification;TAS	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0008180;COP9 signalosome;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/COPS8			https://www.ncbi.nlm.nih.gov/omim/?term=616011	http://www.informatics.jax.org/searchtool/Search.do?query=COPS8&submit=Quick%0D%16942ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COPS8
10_101.305_148.305	Chr10:78740262-120743937	1.191	COX15	ENSG00000014919	COX15, cytochrome c oxidase assembly homolog	chr10:101471601-101491857	Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein which is not a structural subunit, but may be essential for the biogenesis of COX formation and may function in the hydroxylation of heme O, according to the yeast mutant studies. This protein is predicted to contain 5 transmembrane domains localized in the mitochondrial inner membrane. Alternative splicing of this gene generates two transcript variants diverging in the 3' region. [provided by RefSeq, Jul 2008]	Alzheimer's disease ; Acquired Immunodeficiency Syndrome|Disease Progression	Mice homozygous for a knock-out allele exhibit embryonic lethality.	Heme biosynthesis	GO:0006123;mitochondrial electron transport, cytochrome c to oxygen;IC|GO:0006783;heme biosynthetic process;TAS|GO:0006784;heme a biosynthetic process;IGI|GO:0007585;respiratory gaseous exchange;TAS|GO:0008535;respiratory chain complex IV assembly;IMP|GO:0045333;cellular respiration;IC|GO:0055114;oxidation-reduction process;TAS|GO:1902600;hydrogen ion transmembrane transport;IMP	GO:0005634;nucleus;IDA|GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005746;mitochondrial respiratory chain;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031966;mitochondrial membrane;IEA|GO:0070069;cytochrome complex;IDA	GO:0004129;cytochrome-c oxidase activity;TAS|GO:0016627;oxidoreductase activity, acting on the CH-CH group of donors;TAS	http://www.genecards.org/index.php?path=/Search/keyword/COX15	https://www.uniprot.org/uniprot/Q7KZN9	https://hpo.jax.org/app/browse/search?q=COX15&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603646	http://www.informatics.jax.org/searchtool/Search.do?query=COX15&submit=Quick%0D%613ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=COX15
10_101.305_148.305	Chr10:78740262-120743937	1.191	CPEB3	ENSG00000107864	cytoplasmic polyadenylation element binding protein 3	chr10:93806449-94050844		null; Survival; Alzheimer's disease ; Tobacco Use Disorder; Calcium; Body Mass Index	Mice homozygous for a knock-out allele exhibit reduced female fertility, increased anxiety-related response, enhanced contextual conditioning behavior, abnormal spatial reference memory, hypoactivity and abnormal hippocampus pyramidal cells.		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0006412;translation;IEA|GO:0006417;regulation of translation;IEA|GO:0007616;long-term memory;ISS|GO:0017148;negative regulation of translation;IDA|GO:0045727;positive regulation of translation;ISS|GO:0048167;regulation of synaptic plasticity;ISS|GO:0060213;positive regulation of nuclear-transcribed mRNA poly(A) tail shortening;IDA|GO:0060998;regulation of dendritic spine development;ISS|GO:0060999;positive regulation of dendritic spine development;ISS|GO:0061158;3'-UTR-mediated mRNA destabilization;IDA|GO:0071230;cellular response to amino acid stimulus;IDA|GO:1900153;positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay;IDA|GO:1900248;negative regulation of cytoplasmic translational elongation;ISS|GO:1900365;positive regulation of mRNA polyadenylation;ISS|GO:2000766;negative regulation of cytoplasmic translation;IBA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030014;CCR4-NOT complex;IDA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IDA|GO:0045202;synapse;IBA|GO:0045211;postsynaptic membrane;IEA|GO:0097440;apical dendrite;ISS|GO:1990124;messenger ribonucleoprotein complex;IBA	GO:0000900;translation repressor activity, nucleic acid binding;IBA|GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0003730;mRNA 3'-UTR binding;IDA|GO:0005515;protein binding;IPI|GO:0008135;translation factor activity, RNA binding;IDA|GO:0035613;RNA stem-loop binding;ISS|GO:0035925;mRNA 3'-UTR AU-rich region binding;ISS|GO:0043022;ribosome binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/CPEB3	https://www.uniprot.org/uniprot/Q8NE35		https://www.ncbi.nlm.nih.gov/omim/?term=610606	http://www.informatics.jax.org/searchtool/Search.do?query=CPEB3&submit=Quick%0D%3651ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CPEB3
10_101.305_148.305	Chr10:78740262-120743937	1.191	CPN1	ENSG00000120054	carboxypeptidase N subunit 1	chr10:101801950-101841634	Carboxypeptidase N is a plasma metallo-protease that cleaves basic amino acids from the C terminal of peptides and proteins. The enzyme is important in the regulation of peptides like kinins and anaphylatoxins, and has also been known as kininase-1 and anaphylatoxin inactivator. This enzyme is a tetramer comprised of two identical regulatory subunits and two identical catalytic subunits; this gene encodes the catalytic subunit. Mutations in this gene can be associated with angioedema or chronic urticaria resulting from carboxypeptidase N deficiency. [provided by RefSeq, Jul 2008]	Fatty Liver|Metabolic Syndrome X; plasma levels of liver enzymes; liver enzymes; Alzheimer's disease ; Iron; Alkaline Phosphatase	Mice homozygous for a knock-out allele are highly susceptible to lethal anaphylactic shock caused by acute complement activation when administered cobra venom factor or C5a complement.	Regulation of Complement cascade	GO:0006508;proteolysis;IEA|GO:0010815;bradykinin catabolic process;IEA|GO:0030070;insulin processing;IBA|GO:0030449;regulation of complement activation;TAS|GO:0051384;response to glucocorticoid;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;TAS|GO:0005794;Golgi apparatus;IBA|GO:0030141;secretory granule;IBA|GO:0043025;neuronal cell body;IBA|GO:0097060;synaptic membrane;IBA	GO:0004180;carboxypeptidase activity;IEA|GO:0004181;metallocarboxypeptidase activity;TAS|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CPN1	https://www.uniprot.org/uniprot/P15169	https://hpo.jax.org/app/browse/search?q=CPN1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603103	http://www.informatics.jax.org/searchtool/Search.do?query=CPN1&submit=Quick%0D%5157ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CPN1
22_4.194_23.194	Chr22:17733575-25291782	0.374	CRKL	ENSG00000099942	CRK like proto-oncogene, adaptor protein	chr22:21271714-21308037	This gene encodes a protein kinase containing SH2 and SH3 (src homology) domains which has been shown to activate the RAS and JUN kinase signaling pathways and transform fibroblasts in a RAS-dependent fashion. It is a substrate of the BCR-ABL tyrosine kinase, plays a role in fibroblast transformation by BCR-ABL, and may be oncogenic.[provided by RefSeq, Jan 2009]	Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a null allele exhibit fetal lethality with abnormal heart, craniofacial, and brain morphology.	Regulation of signaling by CBL	GO:0000186;activation of MAPKK activity;TAS|GO:0001568;blood vessel development;IEA|GO:0007254;JNK cascade;TAS|GO:0007265;Ras protein signal transduction;TAS|GO:0007389;pattern specification process;IEA|GO:0007507;heart development;IEA|GO:0008284;positive regulation of cell proliferation;IMP|GO:0009887;animal organ morphogenesis;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0035556;intracellular signal transduction;TAS|GO:0048538;thymus development;IEA|GO:0060017;parathyroid gland development;IEA|GO:1900026;positive regulation of substrate adhesion-dependent cell spreading;IMP	GO:0005737;cytoplasm;IEA|GO:0005768;endosome;TAS|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0001784;phosphotyrosine binding;IPI|GO:0003723;RNA binding;IDA|GO:0004871;signal transducer activity;TAS|GO:0005070;SH3/SH2 adaptor activity;TAS|GO:0005515;protein binding;IPI|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CRKL	https://www.uniprot.org/uniprot/P46109	https://hpo.jax.org/app/browse/search?q=CRKL&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602007	http://www.informatics.jax.org/searchtool/Search.do?query=CRKL&submit=Quick%0D%2355ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CRKL
10_101.305_148.305	Chr10:78740262-120743937	1.191	CRTAC1	ENSG00000095713	cartilage acidic protein 1	chr10:99624757-99790585	This gene encodes a glycosylated extracellular matrix protein that is found in the interterritorial matrix of articular deep zone cartilage. This protein is used as a marker to distinguish chondrocytes from osteoblasts and mesenchymal stem cells in culture. The presence of FG-GAP motifs and an RGD integrin-binding motif suggests that this protein may be involved in cell-cell or cell-matrix interactions. Copy number alterations in this gene have been observed in neurofibromatosis type 1-associated glomus tumors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]	Tobacco Use Disorder; Arteries; Diabetes Mellitus, Type 2; Alzheimer's disease 	Mice homozygous for a knock-out allele exhibit abnormalities in lateral olfactory tract morphology and axon fasciculation.		GO:0007413;axonal fasciculation;IEA|GO:0021772;olfactory bulb development;IEA|GO:1900121;negative regulation of receptor binding;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0030426;growth cone;IEA|GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CRTAC1	https://www.uniprot.org/uniprot/Q9NQ79		https://www.ncbi.nlm.nih.gov/omim/?term=606276	http://www.informatics.jax.org/searchtool/Search.do?query=CRTAC1&submit=Quick%0D%2257ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CRTAC1
10_101.305_148.305	Chr10:78740262-120743937	1.191	CUEDC2	ENSG00000107874	CUE domain containing 2	chr10:104183002-104192418		Alzheimer's disease 	Homozygous null mice show increased susceptibility to DSS-induced colitis and colitis-associated colon cancer, and increased macrophage proinflammatory cytokine production in response to LPS.		GO:0010936;negative regulation of macrophage cytokine production;IMP|GO:1900016;negative regulation of cytokine production involved in inflammatory response;IMP	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0031965;nuclear membrane;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/CUEDC2	https://www.uniprot.org/uniprot/Q9H467		https://www.ncbi.nlm.nih.gov/omim/?term=614142	http://www.informatics.jax.org/searchtool/Search.do?query=CUEDC2&submit=Quick%0D%3653ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CUEDC2
10_101.305_148.305	Chr10:78740262-120743937	1.191	CUTC	ENSG00000119929	cutC copper transporter	chr10:101462315-101515891	Members of the CUT family of copper transporters are associated with copper homeostasis and are involved in the uptake, storage, delivery, and efflux of copper (Gupta et al., 1995 [PubMed 7635807]; Li et al., 2005 [PubMed 16182249]).[supplied by OMIM, Mar 2008]	Alcoholism	 	Ion transport by P-type ATPases	GO:0006825;copper ion transport;NAS|GO:0051262;protein tetramerization;IPI|GO:0055070;copper ion homeostasis;NAS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA	GO:0005507;copper ion binding;IDA|GO:0005515;protein binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CUTC	https://www.uniprot.org/uniprot/Q9NTM9		https://www.ncbi.nlm.nih.gov/omim/?term=610101	http://www.informatics.jax.org/searchtool/Search.do?query=CUTC&submit=Quick%0D%5140ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CUTC
10_101.305_148.305	Chr10:78740262-120743937	1.191	CWF19L1	ENSG00000095485	CWF19 like 1, cell cycle control (S. pombe)	chr10:101992055-102027437	This gene encodes a member of the CWF19 protein family. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia-17 and mild mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]	benzene haematotoxicity; Alzheimer's disease ; Depressive Disorder, Major	 		GO:0008150;biological_process;ND	GO:0005575;cellular_component;ND	GO:0003674;molecular_function;ND|GO:0003824;catalytic activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CWF19L1	https://www.uniprot.org/uniprot/Q69YN2	https://hpo.jax.org/app/browse/search?q=CWF19L1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616120	http://www.informatics.jax.org/searchtool/Search.do?query=CWF19L1&submit=Quick%0D%2248ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CWF19L1
10_101.305_148.305	Chr10:78740262-120743937	1.191	CYP17A1	ENSG00000148795	cytochrome P450 family 17 subfamily A member 1	chr10:104590288-104597290	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. It has both 17alpha-hydroxylase and 17,20-lyase activities and is a key enzyme in the steroidogenic pathway that produces progestins, mineralocorticoids, glucocorticoids, androgens, and estrogens. Mutations in this gene are associated with isolated steroid-17 alpha-hydroxylase deficiency, 17-alpha-hydroxylase/17,20-lyase deficiency, pseudohermaphroditism, and adrenal hyperplasia. [provided by RefSeq, Jul 2008]	male breast cancer; Parkinson's disease; uterine fibroids; endometrial cancer; breast cancer; breast cancer, male; cirrhosis; liver cancer; hepatitis C, chronic; cholestasis, intrahepatic; breast cancer; esophageal adenocarcinoma; ovarian cancer; prostate cancer; steroid hormones; adenomyosis endometriosis; hypertension; Carcinoma, Pancreatic Ductal|Pancreatic Neoplasms; lung cancer ; Narcolepsy; pregnancy loss, recurrent; menarche; menopause; Lymphoma, Non-Hodgkin; breast cancer|prostate cancer; menarche; breast cancer fibroadenoma; androgens endometrial cancer estrogens progesterone; lung cancer; tardive dyskinesia; testosterone; bone density; stature; bladder cancer; Polycystic ovaries and premature male pattern baldness; ovarian cancer ; Bone Mineral Density; Hyperandrogenism|Polycystic Ovary Syndrome; patent ductus arteriosus; lymphoma, non-Hodgkin; bone mass; 17-{beta} estradiol levels; bone density; osteoporosis; arsenic ; Carcinoma, Hepatocellular|Liver Neoplasms; Bone Size; biliary duct stones; biliary tract cancer; gallbladder cancer; gallstones; null; chronic obstructive pulmonary disease; Neoplasms, Germ Cell and Embryonal|Testicular Neoplasms; Parkinson Disease; prostatic hyperplasia; prostate cancer; hot flashes; epithelial ovarian cancer ; Abortion, Habitual|Infertility, Female; Autism; prostate cancer; pharmacogenetic studies; Endometrial Neoplasms; Endometriosis; prostatic hyperplasia; atherosclerosis, coronary; serum estrogen and progesterone concentrations; prostate cancer prostate specific antigen; human spermatogenic defect; systolic blood pressure; liver cancer; polycystic ovary syndrome; menarche menopause; hepatic teatosis, tamoxifen-induced; Alzheimer's Disease; bone density sex steroid; Type 2 Diabetes| edema | rosiglitazone; Adenocarcinoma|Carcinoma, Squamous Cell|Endometrial Neoplasms; bone density; hormone levels; prostate volume/histology endocrine patterns; blood pressure; Polycystic Ovary Syndrome; Coronary Disease|Coronary heart disease|Myocardial Infarction; endometriosis; urinary estrogen metabolites; Maduromycosis|Mycetoma; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; androgen levels; rheumatoid arthritis; bone density; height; serum androgen concentrations; menopause; endometrial cancer endometrial hyperplasia; Blood Pressure; mamographic density; sex hormones; Endometrial Neoplasms|; transsexualism; Pre-Eclampsia; uterine leiomyoma; estrogen; Endometriosis|Ovarian Diseases; osteoporosis, postmenopausal; bone density; hormone disturbance; Alzheimer's disease ; Tobacco Use Disorder; oral cancer; intrauterine growth; liver function; mammographic density; Cadaver|Prostatic Hyperplasia; endometrial cancer; hyperinsulinemia; acne; systemic lupus erythematosus; spondyloarthropathies; urinary calculus; liver disease; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; breast cancer ; Birth Weight|Fetal Growth Retardation|Prenatal Exposure Delayed Effects; testicular germ cell tumour; Leiomyoma|Neoplasms, Multiple Primary|Uterine Neoplasms; testosterone; estradiol; androstenedione; DHEA; progesterone; bone mineral density; personality; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; puberty onset; menarche menstrual cycle length; height; polycystic ovarian syndrome; Body Weight|Insulin Resistance|Overweight|Polycystic Ovary Syndrome; Leiomyoma|Uterine Neoplasms; Chronic renal failure|Kidney Failure, Chronic; alcohol abuse; smoking behavior; aging; colorectal cancer; prostate cancer, benign prostatic hyperplasia; hormone disturbance; Adenocarcinoma|Prostatic Neoplasms; serum testosterone levels; lymphoma; non-Hodgkin's lymphoma; Stomach Neoplasms	Homozygous null embryos display early embryonic lethality.	Endogenous sterols	GO:0006694;steroid biosynthetic process;TAS|GO:0006702;androgen biosynthetic process;TAS|GO:0006704;glucocorticoid biosynthetic process;TAS|GO:0007548;sex differentiation;TAS|GO:0008202;steroid metabolic process;IDA|GO:0016125;sterol metabolic process;TAS|GO:0042446;hormone biosynthetic process;IDA|GO:0042448;progesterone metabolic process;IDA|GO:0055114;oxidation-reduction process;IEA	GO:0005739;mitochondrion;IEA|GO:0005783;endoplasmic reticulum;NAS|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0030424;axon;IEA|GO:0043025;neuronal cell body;IEA	GO:0004497;monooxygenase activity;IEA|GO:0004508;steroid 17-alpha-monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016829;lyase activity;IEA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IDA|GO:0046872;metal ion binding;IEA|GO:0047442;17-alpha-hydroxyprogesterone aldolase activity;IMP	http://www.genecards.org/index.php?path=/Search/keyword/CYP17A1	https://www.uniprot.org/uniprot/P05093	https://hpo.jax.org/app/browse/search?q=CYP17A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609300	http://www.informatics.jax.org/searchtool/Search.do?query=CYP17A1&submit=Quick%0D%9158ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP17A1
10_101.305_148.305	Chr10:78740262-120743937	1.191	CYP26A1	ENSG00000095596	cytochrome P450 family 26 subfamily A member 1	chr10:94833232-94837647	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein acts on retinoids, including all-trans-retinoic acid (RA), with both 4-hydroxylation and 18-hydroxylation activities. This enzyme regulates the cellular level of retinoic acid which is involved in regulation of gene expression in both embryonic and adult tissues. Two alternatively spliced transcript variants of this gene, which encode the distinct isoforms, have been reported. [provided by RefSeq, Jul 2008]	Glaucoma, Open-Angle; Triglycerides; caudal regression syndrome; Alzheimer's disease ; Kidney Diseases|Vitamin A Deficiency; schizophrenia; dementia; neural tube defects; Alkaline Phosphatase	Homozygotes for targeted null mutations die during mid-late gestation and exhibit spina bifida, caudal agenesis, and abnormalities of the kidneys, urogenital tract, hindgut, cervical vertebrae, and rostral hindbrain.	RA biosynthesis pathway	GO:0006766;vitamin metabolic process;TAS|GO:0006805;xenobiotic metabolic process;IDA|GO:0016125;sterol metabolic process;IBA|GO:0034653;retinoic acid catabolic process;IDA|GO:0042573;retinoic acid metabolic process;IDA|GO:0048387;negative regulation of retinoic acid receptor signaling pathway;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0001972;retinoic acid binding;IDA|GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0008401;retinoic acid 4-hydroxylase activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0016709;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen;IDA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYP26A1	https://www.uniprot.org/uniprot/O43174		https://www.ncbi.nlm.nih.gov/omim/?term=602239	http://www.informatics.jax.org/searchtool/Search.do?query=CYP26A1&submit=Quick%0D%2254ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP26A1
10_101.305_148.305	Chr10:78740262-120743937	1.191	CYP26C1	ENSG00000187553	cytochrome P450 family 26 subfamily C member 1	chr10:94821021-94828454	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is involved in the catabolism of all-trans- and 9-cis-retinoic acid, and thus contributes to the regulation of retinoic acid levels in cells and tissues. This gene is adjacent to a related gene on chromosome 10q23.33. [provided by RefSeq, Jul 2008]	neural tube defects; schizophrenia; Alzheimer's disease 	Mice homozygous for a knock-out allele are viable and exhibit normal CNS development with no apparent anatomical defects.	RA biosynthesis pathway	GO:0006766;vitamin metabolic process;TAS|GO:0007417;central nervous system development;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0014032;neural crest cell development;IEA|GO:0016125;sterol metabolic process;IBA|GO:0034653;retinoic acid catabolic process;IDA|GO:0048284;organelle fusion;IEA|GO:0048387;negative regulation of retinoic acid receptor signaling pathway;NAS|GO:0055114;oxidation-reduction process;IEA	GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0001972;retinoic acid binding;IDA|GO:0004497;monooxygenase activity;IEA|GO:0005506;iron ion binding;IEA|GO:0008401;retinoic acid 4-hydroxylase activity;TAS|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYP26C1		https://hpo.jax.org/app/browse/search?q=CYP26C1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608428	http://www.informatics.jax.org/searchtool/Search.do?query=CYP26C1&submit=Quick%0D%15842ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP26C1
10_101.305_148.305	Chr10:78740262-120743937	1.191	CYP2C18	ENSG00000108242	cytochrome P450 family 2 subfamily C member 18	chr10:96443251-96495947	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum but its specific substrate has not yet been determined. The gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. An additional gene, CYP2C17, was once thought to exist; however, CYP2C17 is now considered an artefact based on a chimera of CYP2C18 and CYP2C19. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Blood Pressure; Echocardiography; esophageal adenocarcinoma; Coronary Artery Disease; Chronic renal failure|Kidney Failure, Chronic; acenocoumarol maintenance dosage; Acenocoumarol maintenance dosage; Alzheimer's disease ; Body Height; normal variation; warfarin sensitivity; Leukemia, Lymphocytic, Chronic, B-Cell; warfarin response; Genomic Instability|Mesothelioma|Pleural Neoplasms; null	 	Xenobiotics	GO:0006805;xenobiotic metabolic process;TAS|GO:0019373;epoxygenase P450 pathway;IBA|GO:0055114;oxidation-reduction process;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0004497;monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYP2C18	https://www.uniprot.org/uniprot/P33260		https://www.ncbi.nlm.nih.gov/omim/?term=601131	http://www.informatics.jax.org/searchtool/Search.do?query=CYP2C18&submit=Quick%0D%3689ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2C18
10_101.305_148.305	Chr10:78740262-120743937	1.191	CYP2C19	ENSG00000165841	cytochrome P450 family 2 subfamily C member 19	chr10:96447911-96613017	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is known to metabolize many xenobiotics, including the anticonvulsive drug mephenytoin, omeprazole, diazepam and some barbiturates. Polymorphism within this gene is associated with variable ability to metabolize mephenytoin, known as the poor metabolizer and extensive metabolizer phenotypes. The gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. [provided by RefSeq, Jul 2008]	phenobarbital clearance; Coronary Disease; Coronary Artery Disease; Coronary Artery Disease|Diabetes Complications; anticoagulant complications; Esophagitis, Peptic|Gastroesophageal Reflux; Multiple Myeloma; breast cancer ; BMI- Edema rosiglitazone or pioglitazone; lung cancer; esophageal cancer; stomach cancer; bladder cancer; phenytoin levels; glyburide pharmacokinetics; epilepsy; drug-related genes ; breast cancer; Lupus Nephritis|Nephritis SLE; Cardiovascular Diseases; cancer; HIV infection; gastrointestinal bleeding; thiopurine methyltransferase activity; platelet aggregation; Acute Coronary Syndrome|Recurrence; head and neck cancer; Helicobacter Infections|Liver Cirrhosis|Peptic Ulcer; carvedilol pharmacokinetics; Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma, T-Cell; Multiple Chemical Sensitivity; omeprezole pharmacokinetics; warfarin sensitivity; reflux esophagitis; methadone levels; H. pylori infection; nomal variation; hypercholesterolemia; H. pylori infection; coagulation disorder; metabolism disorders; leukemia, adult acute; Gastroesophageal Reflux|Helicobacter Infections; Endometriosis; Ayurveda Prakriti Type; liver disease; H. pylori infection; drug hypersensitivity; Esophagitis, Peptic|Gastroesophageal Reflux|Recurrence; voriconazole ; Echocardiography; pharmacogenetic studies; Cardiovascular Diseases|Myocardial Infarction|Stroke; Genomic Instability|Mesothelioma|Pleural Neoplasms; Gastroesophageal Reflux|Heartburn; HIV; lung cancer ; clopidogrel; Arthritis, Rheumatoid|Rheumatoid Arthritis; lansoprazole phamacokinetics; fluvoxamine metabolism; omeprazole metabolism; mephobarbital metabolism; Tuberculosis, Pulmonary; cyclophosphamide phamacokinetics; leukemia, myeloid; clomipramine metabolism; Behcet's disease; citalopram pharmacokinetics; schizophrenia; Dyspepsia|Helicobacter Infections; amitriptyline metabolism; Gastroesophageal Reflux|Recurrence; cyclophosphamide pharmacokinetics; lung cancer; Myocardial Infarction|Stroke; gastroesophageal reflux disease; systemic lupus erythematosus; prostate cancer; omeprazole pharmacokinetics; lung cancer; liver cancer; Breast Neoplasms|Neoplasms, Germ Cell and Embryonal|Ovarian Neoplasms; Hypercholesterolemia; Coronary Thrombosis|Myocardial ischemia; Anemia, Sickle Cell|Sickle cell anemia; phenytoin; carisoprodol pharmacokinetics; CYP1A2 activity; alprazolam metabolism; Drug-Induced Liver Injury|Hepatitis, Toxic; chlorpropamide pharmacokinetics; proton-pump inhibitor testing, accuracy of; chronic obstructive pulmonary disease; Chronic renal failure|Kidney Failure, Chronic; quazepam pharmacokinetics; ulcer, gastric; Acenocoumarol; gastric disease; methadone pharmacokinetics methadone treatment outcome; Hypercholesterolemia|LDLC levels; lansoprazole pharmacokinetics; premature ovarian failure; lupus nephritis; diabetes, type 2; liver disease; fluoxetine pharmacokinetics; Helicobacter Infections; Esophagitis, Peptic|Gastroesophageal Reflux|Peptic Esophagitis; Acute Coronary Syndrome|Atrial Fibrillation|Hemorrhage; doxepin metabolism; tacrolimus pharmacokinetics; bladder cancer; Multiple Myeloma|Neoplasm Recurrence, Local; Helicobacter pylori infection; depression; Hematologic Diseases|Neutropenia|Thrombocytopenia; Acute Coronary Syndrome; Epilepsy|; Inflammation; colorectal cancer; depression schizophrenia; Body Weight; gastric ulcer, HIV, malaria; Gastroesophageal Reflux; lansoprazole disposition; personality traits; normal variation; Arthritis, Rheumatoid|Diarrhea|Nausea|Pruritus|Vomiting; essential tremor primidone toxicity; Dyspepsia|; Myocardial Infarction|Recurrence; Lichen Planus, Oral; Hematologic Neoplasms; voriconazole; Stomach Ulcer; acid inhibition; warfarin response; Epilepsies, Partial|Gingival Hyperplasia; amitriptyline; nortriptyline; Endometriosis|; Acute Coronary Syndrome|Cardiovascular Diseases|Thrombosis; Helicobacter Infections|Peptic Ulcer; Angina, Unstable|Myocardial Infarction|Unstable angina; systemic sclerosis; colorectal cancer stomach cancer; patent ductus arteriosus; Duodenal Ulcer|Helicobacter Infections|Stomach Ulcer; Coronary Stenosis|Prosthesis Failure; diabetes, type 2; liver disease, chronic and cirrhosis; voriconazole pharmacokinetics; ovarian toxicity; esophagitis; lung cancer; esophageal cancer; stomach cancer; bladder cancer; warfarin sensitivity; pharmacogenetic variation; Drug-Induced Liver Injury; Apoplexy|Cardiovascular Diseases|Coronary Restenosis|Myocardial Infarction|Recurrence|Stroke; End Stage Liver Disease|Liver Failure; visual disorder; hypertension; H. pylori infection; liver cancer; E7070 phamacokinetics; lasoprazole pharmacokinetics; trimipramine pharmakokinetics; Myocardial Infarction; Coronary Thrombosis|Graft Occlusion, Vascular|Myocardial Infarction; Nephritis, Interstitial; arthritis; diabetes, type 2; osteoarthritis; liver disease; acenocoumarol response; fatal drug intoxication; indisulam pharmacokinetics; Breast Neoplasms|; intragastric acidity; Neoplasms; obesity; citalopram metabolism; Epilepsy|Neurotoxicity Syndromes; etizolam pharmacokinetics; omeprazole metabolism; CYP2C19 activity; Leukemia|Multiple Myeloma|Myelodysplastic Syndromes|Preleukemia; cancer; HIV infection; carisoprodol metabolism; stomach cancer; arthritis; cholesterol, HDL; diabetes, type 2; osteoarthritis; blood pressure, arterial; liver disease; acetaldehyde;; gliclazide pharmacokinetics; cholesterol, HDL; diabetes, type 2; blood pressure, arterial; liver disease; periodontitis; acenocoumarol response; acetaldehyde;; metabolites of lansoprazole; metabolites of omerprazole; metabolites of sodium rabeprazole; sibutramine; methadone toxicity; etizolam pharmacokinetics; clozapine; seizures; thrombosis, deep vein; systemic sclerosis; Fatty Liver|Liver Neoplasms|Peptic Ulcer; Perioperative genomic profiles ; clopidogrel ; Lupus Nephritis; Coronary Artery Disease|Coronary Thrombosis|Hemorrhage; Myocardial Infarction|Thrombosis; psychiatric disorders; harm avoidance; imipramine plasma concentrations ; thalidomide metabolites; phenobarbital pharmacokinetics phenytoin pharmacokinetics; esophageal Mucosal Injury ; Coronary Disease|Graft Occlusion, Vascular; Epilepsy; Acute Coronary Syndrome|Cardiovascular Diseases; hepatoxicity, drug-induced; Gastritis|Helicobacter Infections; Rhinitis, Allergic, Perennial; rabeprazole pharmacokinetics; null; Myelodysplastic Syndromes; omeprazole; periodontitis; Acenocoumarol maintenance dosage; CYP2C19 activity; CYP2D6 activitiy; omeprazole metabolism; sulfone metabolism; Type 2 diabetes; 4'-hydroxymephenytoin; S/R-mephenytoin; anesthesia effects diazepam pharmacokinetics; ovarian toxicity, cyclophosphamide-related premature menopause, cyclophosphamide-related; citalopram; Leukemia, Lymphocytic, Chronic, B-Cell; Biliary Tract Neoplasm|Biliary Tract Neoplasms|Digestive System Neoplasms; ulcer, gastric; repaglinide pharmacology; coagulation disorder; tacrolimus		Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE)	GO:0006805;xenobiotic metabolic process;TAS|GO:0008202;steroid metabolic process;IMP|GO:0016098;monoterpenoid metabolic process;IDA|GO:0017144;drug metabolic process;IDA|GO:0019373;epoxygenase P450 pathway;TAS|GO:0042738;exogenous drug catabolic process;IDA|GO:0046483;heterocycle metabolic process;IDA|GO:0055114;oxidation-reduction process;IDA|GO:0097267;omega-hydroxylase P450 pathway;TAS	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;TAS	GO:0004497;monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0008395;steroid hydroxylase activity;IMP|GO:0016491;oxidoreductase activity;IDA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0018675;(S)-limonene 6-monooxygenase activity;IEA|GO:0018676;(S)-limonene 7-monooxygenase activity;IEA|GO:0019825;oxygen binding;TAS|GO:0019899;enzyme binding;IPI|GO:0020037;heme binding;IDA|GO:0046872;metal ion binding;IEA|GO:0052741;(R)-limonene 6-monooxygenase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYP2C19		https://hpo.jax.org/app/browse/search?q=CYP2C19&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=124020	http://www.informatics.jax.org/searchtool/Search.do?query=CYP2C19&submit=Quick%0D%11640ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2C19
10_101.305_148.305	Chr10:78740262-120743937	1.191	CYP2C8	ENSG00000138115	cytochrome P450 family 2 subfamily C member 8	chr10:96796530-96829254	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by phenobarbital. The enzyme is known to metabolize many xenobiotics, including the anticonvulsive drug mephenytoin, benzo(a)pyrene, 7-ethyoxycoumarin, and the anti-cancer drug taxol. This gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]	drug-related genes ; Hypercholesterolemia|LDLC levels; head and neck cancer; ibuprofen clearance; rosiglitazone pharmacokinetics; Myocardial Infarction|Stroke; ovarian cancer ; myocardial infarct; drug hypersensitivity; paclitaxel pharmacokinetics; heart disease, ischemic; anticoagulant complications; ibuprofen clearance; Carcinoma, Renal Cell|Gilbert Disease|Hyperbilirubinemia|Kidney Neoplasms|Renal Cell Carcinoma; ovarian cancer; Hyperlipidemias; Tobacco Use Disorder; Coronary Disease|Coronary heart disease|Myocardial Infarction; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; hepatotoxicity, diclofenac-induced; null; oral antidiabetic pharacokinetics; Muscular Diseases; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms; Coronary Artery Disease; repaglinide pharmacology; malaria; Hemoglobins; hypertension; Myocardial Infarction; Chronic renal failure|Kidney Failure, Chronic; enantiomers of ibuprofen; Epilepsy; breast cancer paclitaxel pharmacokinetics; colorectal cancer; Ductus Arteriosus, Patent|Patent ductus arteriosus|Premature Birth; Kidney Failure, Chronic; Malaria, Falciparum; breast cancer ; osteonecrosis of the jaw; Alzheimer's disease ; Leukemia, Lymphocytic, Chronic, B-Cell; normal variation; carbamazepine hypersensitivity; epithelial ovarian cancer ; Genitourinary Neoplasms|Urogenital Neoplasms; warfarin sensitivity; Gastrointestinal Hemorrhage; lung cancer ; Jaw Diseases|Multiple Myeloma|Osteonecrosis; visual disorder; Type 2 Diabetes| edema | rosiglitazone; Osteonecrosis; ulcer, gastric; repaglinide pharmacology; coagulation disorder; reduced plasma concentrations of repaglinide; Essential Tremor; Hematocrit; Adenoma|Colorectal Neoplasms; malaria, plasmodium falciparum; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal neoplasm|Laryngeal Neoplasms|Mouth Neoplasms|Oesophageal neoplasm|Pharyngeal Neoplasms; tenoxicam bioequivalence; Epilepsy|; Type 2 diabetes; repaglinide pharmacokinetics	 	Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE)	GO:0002933;lipid hydroxylation;IDA|GO:0006082;organic acid metabolic process;IDA|GO:0006805;xenobiotic metabolic process;TAS|GO:0008202;steroid metabolic process;IDA|GO:0017144;drug metabolic process;IDA|GO:0019373;epoxygenase P450 pathway;TAS|GO:0042738;exogenous drug catabolic process;IDA|GO:0055114;oxidation-reduction process;IEA|GO:0070989;oxidative demethylation;IDA|GO:0097267;omega-hydroxylase P450 pathway;TAS	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0004497;monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0016491;oxidoreductase activity;IEA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0034875;caffeine oxidase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0070330;aromatase activity;IEA|GO:0101020;estrogen 16-alpha-hydroxylase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/CYP2C8	https://www.uniprot.org/uniprot/P10632		https://www.ncbi.nlm.nih.gov/omim/?term=601129	http://www.informatics.jax.org/searchtool/Search.do?query=CYP2C8&submit=Quick%0D%7678ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2C8
10_101.305_148.305	Chr10:78740262-120743937	1.191	CYP2C9	ENSG00000138109	cytochrome P450 family 2 subfamily C member 9	chr10:96698415-96749147	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by rifampin. The enzyme is known to metabolize many xenobiotics, including phenytoin, tolbutamide, ibuprofen and S-warfarin. Studies identifying individuals who are poor metabolizers of phenytoin and tolbutamide suggest that this gene is polymorphic. The gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. [provided by RefSeq, Jul 2008]	duodenal ulcer, NSAID-ralted gastric ulcer, NSAID-ralted; rosuvastatin pharmacokinetics; Behcet's disease; warfarin response; warfarin maintenance dose; Venous Thromboembolism; Peptic Ulcer|Peptic Ulcer Hemorrhage; hypertension; H. pylori infection; glyburide pharmacokinetics; Arthritis, Rheumatoid|Diarrhea|Nausea|Pruritus|Vomiting; gastrointestingal health; sulphamethoxazole hypersensitivity; Delta9-tetrahydrocannabinol; Budd-Chiari Syndrome; warfarin sensitivity; nomal variation; Adenoma|Colorectal Neoplasms; premature ovarian failure; lupus nephritis; gastric ulceration; Thromboembolism; Coronary Artery Disease|; clozapine; Venous Thrombosis; Body Weight|Thromboembolism; cyclophosphamide pharmacokinetics; null; carvedilol pharmacokinetics; Helicobacter Infections; cardiovascular disease; bladder cancer; Neoplasms; Adenoma|Colorectal Neoplasms|; hypertension; hypercholesterolemia; H. pylori infection; coagulation disorder; chlorpropamide pharmacokinetics; Diabetes Mellitus, Type 2|Hypoglycemia; anticoagulant complications; ibuprofen clearance; Leukemia, Lymphocytic, Chronic, B-Cell; Hypercholesterolemia; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal neoplasm|Laryngeal Neoplasms|Mouth Neoplasms|Oesophageal neoplasm|Pharyngeal Neoplasms; coagulation disorder; hyperlipidemia; Breast Neoplasms|Neoplasms, Germ Cell and Embryonal|Ovarian Neoplasms; methadone pharmacokinetics methadone treatment outcome; epithelial ovarian cancer ; Epilepsy|Malnutrition; warfarin therapy, response to; Arthritis, Rheumatoid; pharmacogenetic studies; Hemorrhage|Thromboembolism|Thrombosis; Chronic renal failure|Kidney Failure, Chronic; Drug-Induced Liver Injury|Hepatitis, Toxic; cancer; HIV infection; gastrointestinal bleeding; thiopurine methyltransferase activity; coagulation warfarin sensitivity; Gastrointestinal Diseases|; Colonic Neoplasms|Microsatellite Instability; anticoagulant complications; bleeding events, warfarin therapy-related; overanticoagulation, warfarin therapy-related; piroxicam pharmacokinetics; epilepsy; anticoagulant complications; phenytoin; platelet aggregation; warfarin therapy; acenocoumarol, sensitivity; Lichen Planus, Oral; Pulmonary Embolism|Venous Thrombosis; Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma, T-Cell; leukemia, childhood acute; hypertension; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms; Alzheimer's disease ; Type 2 diabetes; thioridazine plasma levels; heart rate; risperidone metabolism; Kidney Failure, Chronic|Proteinuria; cholesterol, HDL; diabetes, type 2; blood pressure, arterial; liver disease; periodontitis; acenocoumarol response; acetaldehyde;; acenocoumarol pharmacokinetics; glimepiride pharmacokinetics; Polycystic Ovary Syndrome; Heart Failure; Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma|Syndrome; seizures; thrombosis, deep vein; systemic sclerosis; depressive disorder, major; Atrophy|Peptic Ulcer; clopidogrel ; glibenclamide pharmacokinetics lornoxicam pharmacokinetics; Cardiovascular Diseases|Myocardial Infarction|Stroke; Coronary Artery Disease; fluoxetine pharmacokinetics; seizures; thrombosis, deep vein; Tuberculosis, Pulmonary; Epilepsy; torsemide pharmacokinetics; methadone levels; diabetes, type 2; liver disease; lung cancer; liver cancer; irbesartan phamacokinetics; lipids; indisulam pharmacokinetics; acenocoumarol anticoagulation; acenocoumarol maintenance dosage; lung cancer; Epilepsy|Neurotoxicity Syndromes; Muscular Diseases; oral anticoagulants; Essential Tremor; blood pressure; Warfarin response; diclofenac pharmacokinetics and pharmacodynamics; tolbutamide pharmacokinetics; anticoagulant response of acenocoumarol; Multiple Chemical Sensitivity; arthritis; diabetes, type 2; osteoarthritis; liver disease; acenocoumarol response; Atrial Fibrillation|Venous Thrombosis; Epilepsy|; Hypercholesterolemia|LDLC levels; Epilepsies, Partial|Gingival Hyperplasia; losartan oxidation; glucose; insulin secretion; bleeding complications; lymphoma, Non-Hodgkin's; Thrombosis; pharmacogenetic diversity ; enantiomers of ibuprofen; Multiple Myeloma; colorectal cancer; drug hypersensitivity; E7070 phamacokinetics; obesity; Lymphoma, Non-Hodgkin; tenoxicam bioequivalence; Acute Coronary Syndrome|Recurrence; Hematologic Diseases|Neutropenia|Thrombocytopenia; Myocardial Infarction; Blood Coagulation Disorders, Inherited; lung cancer; esophageal cancer; stomach cancer; bladder cancer; warfarin sensitivity; Drug-Induced Liver Injury; Acute Coronary Syndrome|; doxepin metabolism; asthma; Hypertension; clopidogrel; Cardiovascular Diseases; esophageal adenocarcinoma; hematology indices; Hemorrhage; acenocoumarol and phenprocoumon; Brill-Symmers disease|Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma, Follicular; trimipramine pharmakokinetics; patent ductus arteriosus; phenytoin levels; nonsteroidal anti-inflammatory response; flubiprofen metabolism; acenocoumarol response; cutaneous adverse drug reaction; tamoxifen, metabolism; diabetes, type 2; heart disease; epilepsy; prostate cancer; Warfarin; carbamazepine hypersensitivity; Hemorrhage|Thromboembolism; breast cancer ; Perioperative genomic profiles ; Renal Insufficiency|Thrombophilia; gliclazide pharmacokinetics; Cocarcinogenesis|Neoplasms; myocardial infarct; coumarin sensitivity; phenprocoumon; Hypertension, Renal; Rhinitis, Allergic, Perennial; Body Weight; lornoxicam pharmacokinetics; anticoagulant complications; bleeding complications; Hyperlipidemias; Echocardiography; Hodgkin Disease; pharmacogenetic variation; haloperidol, plasma; over anticoagulation; gastrointestinal bleeding; phenprocoumon requirements; anticoagulant complications; Cardiovascular Diseases|Hemorrhage; Myocardial Infarction|Stroke; breast cancer; Antiphospholipid Syndrome|Hemorrhage|Recurrence|Thrombosis; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; cyclophosphamide phamacokinetics; CYP2C9 activity; Hemorrhage|Thrombosis; Gastrointestinal Hemorrhage|; Heart Diseases; Dehydroepiandrosterone Sulfate; endoxifen; BMI- Edema rosiglitazone or pioglitazone; Glomerulonephritis, IGA; phenobarbital clearance; diclofenac metabolism; phenytoin metabolism; depression; Type 2 Diabetes| edema | rosiglitazone; Atrial Fibrillation; cytokines; tumor markers; hypoglycemia; cutaneous reactions to sulfonamides; normal variation; drug-related genes ; tenoxicam concentrations; blood and blood forming organ disorders; Acute Coronary Syndrome|Cardiovascular Diseases|Thrombosis; hepatoxicity, drug-induced; oral antidiabetic pharacokinetics; Atherosclerosis|Cardiovascular Diseases|Ischemia; atherosclerosis; ulcer, gastric; repaglinide pharmacology; coagulation disorder; candesartan; blood pressure, arterial; Gastrointestinal Hemorrhage; Ductus Arteriosus, Patent|Patent ductus arteriosus|Premature Birth	 	Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE)	GO:0006629;lipid metabolic process;IEA|GO:0006805;xenobiotic metabolic process;TAS|GO:0008202;steroid metabolic process;IMP|GO:0016098;monoterpenoid metabolic process;IDA|GO:0017144;drug metabolic process;IMP|GO:0019373;epoxygenase P450 pathway;TAS|GO:0019627;urea metabolic process;IDA|GO:0032787;monocarboxylic acid metabolic process;IDA|GO:0042737;drug catabolic process;IMP|GO:0042738;exogenous drug catabolic process;IDA|GO:0043603;cellular amide metabolic process;IDA|GO:0055114;oxidation-reduction process;IDA|GO:0070989;oxidative demethylation;IDA|GO:0097267;omega-hydroxylase P450 pathway;TAS	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0031090;organelle membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0001567;cholesterol 25-hydroxylase activity;IEA|GO:0004497;monooxygenase activity;TAS|GO:0005506;iron ion binding;IEA|GO:0008144;drug binding;IDA|GO:0008392;arachidonic acid epoxygenase activity;IBA|GO:0008395;steroid hydroxylase activity;IMP|GO:0016491;oxidoreductase activity;IDA|GO:0016705;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen;IEA|GO:0018675;(S)-limonene 6-monooxygenase activity;IEA|GO:0018676;(S)-limonene 7-monooxygenase activity;IEA|GO:0019825;oxygen binding;TAS|GO:0020037;heme binding;IEA|GO:0034875;caffeine oxidase activity;IDA|GO:0046872;metal ion binding;IEA|GO:0052741;(R)-limonene 6-monooxygenase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/CYP2C9	https://www.uniprot.org/uniprot/P11712	https://hpo.jax.org/app/browse/search?q=CYP2C9&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601130	http://www.informatics.jax.org/searchtool/Search.do?query=CYP2C9&submit=Quick%0D%7676ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=CYP2C9
10_101.305_148.305	Chr10:78740262-120743937	1.191	DCLRE1A	ENSG00000198924	DNA cross-link repair 1A	chr10:115594488-115614142	This gene encodes a conserved protein that is involved in the repair of DNA interstrand cross-links. DNA cross-links suppress transcription, replication, and DNA segregation. The encoded protein is a regulator of the mitotic cell cycle checkpoint. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]	Alzheimer's disease ; Chronic renal failure|Kidney Failure, Chronic	Mice homozygous for a targeted null mutation are viable and fertile but exhibit increased sensitivity to the DNA interstrand cross-linking agent mitomycin C.	Fanconi Anemia Pathway	GO:0006281;DNA repair;IEA|GO:0006303;double-strand break repair via nonhomologous end joining;IBA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0031848;protection from non-homologous end joining at telomere;IBA|GO:0036297;interstrand cross-link repair;TAS|GO:0051301;cell division;IEA|GO:0090305;nucleic acid phosphodiester bond hydrolysis;IEA	GO:0000784;nuclear chromosome, telomeric region;IBA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS	GO:0003684;damaged DNA binding;IBA|GO:0035312;5'-3' exodeoxyribonuclease activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/DCLRE1A			https://www.ncbi.nlm.nih.gov/omim/?term=609682	http://www.informatics.jax.org/searchtool/Search.do?query=DCLRE1A&submit=Quick%0D%17082ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DCLRE1A
22_4.194_23.194	Chr22:17733575-25291782	0.374	DDT	ENSG00000275003	D-dopachrome tautomerase	chr22:24313554-24322660	D-dopachrome tautomerase converts D-dopachrome into 5,6-dihydroxyindole. The DDT gene is related to the migration inhibitory factor (MIF) in terms of sequence, enzyme activity, and gene structure. DDT and MIF are closely linked on chromosome 22. [provided by RefSeq, Jul 2008]	Type 2 Diabetes| edema | rosiglitazone	 		GO:0042438;melanin biosynthetic process;IEA	GO:0005737;cytoplasm;IEA|GO:0070062;extracellular exosome;IDA	GO:0004167;dopachrome isomerase activity;TAS|GO:0016829;lyase activity;IEA|GO:0033981;D-dopachrome decarboxylase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DDT	https://www.uniprot.org/uniprot/P30046		https://www.ncbi.nlm.nih.gov/omim/?term=602750	http://www.informatics.jax.org/searchtool/Search.do?query=DDT&submit=Quick%0D%21248ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DDT
22_4.194_23.194	Chr22:17733575-25291782	0.374	DDTL	ENSG00000275758	D-dopachrome tautomerase like	chr22:24309089-24314721		Type 2 Diabetes| edema | rosiglitazone	 			GO:0005737;cytoplasm;IEA|GO:0070062;extracellular exosome;IDA	GO:0016829;lyase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DDTL	https://www.uniprot.org/uniprot/A6NHG4			http://www.informatics.jax.org/searchtool/Search.do?query=DDTL&submit=Quick%0D%21443ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DDTL
22_4.194_23.194	Chr22:17733575-25291782	0.374	DERL3	ENSG00000274437	derlin 3	chr22:24176690-24181315	The protein encoded by this gene belongs to the derlin family, and resides in the endoplasmic reticulum (ER). Proteins that are unfolded or misfolded in the ER must be refolded or degraded to maintain the homeostasis of the ER. This protein appears to be involved in the degradation of misfolded glycoproteins in the ER. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Oct 2008]	Stroke	Mice homozygous for this gene trapped allele show no obvious phenotype alterations.	Defective CFTR causes cystic fibrosis	GO:0018279;protein N-linked glycosylation via asparagine;IMP|GO:0030433;ubiquitin-dependent ERAD pathway;TAS|GO:0030968;endoplasmic reticulum unfolded protein response;IDA|GO:1904153;negative regulation of retrograde protein transport, ER to cytosol;IMP	GO:0005783;endoplasmic reticulum;IEA|GO:0005785;signal recognition particle receptor complex;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IDA|GO:0048500;signal recognition particle;IDA	GO:0004252;serine-type endopeptidase activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DERL3	https://www.uniprot.org/uniprot/Q96Q80		https://www.ncbi.nlm.nih.gov/omim/?term=610305	http://www.informatics.jax.org/searchtool/Search.do?query=DERL3&submit=Quick%0D%21119ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DERL3
22_4.194_23.194	Chr22:17733575-25291782	0.374	DGCR14	ENSG00000100056		chr22:19117792-19132197	This gene is located within the minimal DGS critical region (MDGCR) thought to contain the gene(s) responsible for a group of developmental disorders. These disorders include DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and some familial or sporadic conotruncal cardiac defects which have been associated with microdeletion of 22q11.2. The encoded protein may be a component of C complex spliceosomes, and the orthologous protein in the mouse localizes to the nucleus. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]	Chronic renal failure|Kidney Failure, Chronic; schizophrenia; Type 2 Diabetes| edema | rosiglitazone	 		GO:0000398;mRNA splicing, via spliceosome;IC|GO:0006397;mRNA processing;IEA|GO:0007399;nervous system development;ISS|GO:0008380;RNA splicing;IEA	GO:0005634;nucleus;IEA|GO:0005681;spliceosomal complex;IEA|GO:0071013;catalytic step 2 spliceosome;IDA	GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DGCR14	https://www.uniprot.org/uniprot/Q96DF8			http://www.informatics.jax.org/searchtool/Search.do?query=DGCR14&submit=Quick%0D%2390ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DGCR14
22_4.194_23.194	Chr22:17733575-25291782	0.374	DGCR2	ENSG00000070413	DiGeorge syndrome critical region gene 2	chr22:19023795-19109967	Deletions of the 22q11.2 have been associated with a wide range of developmental defects (notably DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome and isolated conotruncal cardiac defects) classified under the acronym CATCH 22. The DGCR2 gene encodes a novel putative adhesion receptor protein, which could play a role in neural crest cells migration, a process which has been proposed to be altered in DiGeorge syndrome. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]	schizophrenia; Schizophrenia	 		GO:0007155;cell adhesion;IEA|GO:0009887;animal organ morphogenesis;TAS|GO:0050890;cognition;IMP	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DGCR2	https://www.uniprot.org/uniprot/P98153	https://hpo.jax.org/app/browse/search?q=DGCR2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600594	http://www.informatics.jax.org/searchtool/Search.do?query=DGCR2&submit=Quick%0D%1355ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DGCR2
22_4.194_23.194	Chr22:17733575-25291782	0.374	DGCR6	ENSG00000183628	DiGeorge syndrome critical region gene 6	chr22:18893541-18901751	DiGeorge syndrome, and more widely, the CATCH 22 syndrome, are associated with microdeletions in chromosomal region 22q11.2. The product of this gene shares homology with the Drosophila melanogaster gonadal protein, which participates in gonadal and germ cell development, and with the gamma-1 subunit of human laminin. This gene is a candidate for involvement in DiGeorge syndrome pathology and in schizophrenia. [provided by RefSeq, Nov 2008]	Psychiatric Disorders	 		GO:0007155;cell adhesion;TAS|GO:0009887;animal organ morphogenesis;TAS	GO:0005578;proteinaceous extracellular matrix;TAS|GO:0005634;nucleus;IEA	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/DGCR6		https://hpo.jax.org/app/browse/search?q=DGCR6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601279	http://www.informatics.jax.org/searchtool/Search.do?query=DGCR6&submit=Quick%0D%15028ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DGCR6
22_4.194_23.194	Chr22:17733575-25291782	0.374	DGCR6L	ENSG00000128185	DiGeorge syndrome critical region gene 6 like	chr22:20301799-20307603	This gene, the result of a duplication at this locus, is one of two functional genes encoding nearly identical proteins that have similar expression patterns. The product of this gene is a protein that shares homology with the Drosophila gonadal protein, expressed in gonadal tissues and germ cells, and with the human laminin gamma-1 chain that functions in cell attachment and migration. This gene is located in a region of chromosome 22 implicated in the DiGeorge syndrome, one facet of a broader collection of anomalies referred to as the CATCH 22 syndrome. [provided by RefSeq, Jul 2008]		 			GO:0005634;nucleus;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DGCR6L	https://www.uniprot.org/uniprot/Q9BY27		https://www.ncbi.nlm.nih.gov/omim/?term=609459	http://www.informatics.jax.org/searchtool/Search.do?query=DGCR6L&submit=Quick%0D%6104ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DGCR6L
22_4.194_23.194	Chr22:17733575-25291782	0.374	DGCR8	ENSG00000128191	DGCR8, microprocessor complex subunit	chr22:20067755-20099400	This gene encodes a subunit of the microprocessor complex which mediates the biogenesis of microRNAs from the primary microRNA transcript. The encoded protein is a double-stranded RNA binding protein that functions as the non-catalytic subunit of the microprocessor complex. This protein is required for binding the double-stranded RNA substrate and facilitates cleavage of the RNA by the ribonuclease III protein, Drosha. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]	Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; esophageal cancer ; Carcinoma, Renal Cell|Kidney Neoplasms|Neoplasm Recurrence, Local|Renal Cell Carcinoma; lung cancer; oral premalignant lesions; Carcinoma, Renal Cell|Kidney Neoplasms	Mice heterozygous for a gene trap allele exhibit reduced dendritic spine number and dendritiic complexity along with abnormal prepulse inhibition and abnormal spatial working memory. Homozygous mice are embryonic lethal.	MicroRNA (miRNA) biogenesis	GO:0010586;miRNA metabolic process;TAS|GO:0031053;primary miRNA processing;IDA|GO:0072091;regulation of stem cell proliferation;IEA|GO:0090501;RNA phosphodiester bond hydrolysis;IEA|GO:0090502;RNA phosphodiester bond hydrolysis, endonucleolytic;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IDA|GO:0070877;microprocessor complex;IDA	GO:0003723;RNA binding;IEA|GO:0003725;double-stranded RNA binding;IDA|GO:0004525;ribonuclease III activity;IDA|GO:0005515;protein binding;IPI|GO:0020037;heme binding;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0046872;metal ion binding;IEA|GO:0070878;primary miRNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/DGCR8	https://www.uniprot.org/uniprot/Q8WYQ5	https://hpo.jax.org/app/browse/search?q=DGCR8&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=609030	http://www.informatics.jax.org/searchtool/Search.do?query=DGCR8&submit=Quick%0D%6105ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DGCR8
10_101.305_148.305	Chr10:78740262-120743937	1.191	DLG5	ENSG00000274429	discs large MAGUK scaffold protein 5	chr10:79550549-79686378	This gene encodes a member of the family of discs large (DLG) homologs, a subset of the membrane-associated guanylate kinase (MAGUK) superfamily. The MAGUK proteins are composed of a catalytically inactive guanylate kinase domain, in addition to PDZ and SH3 domains, and are thought to function as scaffolding molecules at sites of cell-cell contact. The protein encoded by this gene localizes to the plasma membrane and cytoplasm, and interacts with components of adherens junctions and the cytoskeleton. It is proposed to function in the transmission of extracellular signals to the cytoskeleton and in the maintenance of epithelial cell structure. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]	Alzheimer's disease ; Crohn's disease; rheumatoid arthritis; cholangitis, sclerosing; Tobacco Use Disorder; Blood Pressure; inflammatory bowel disease ; Crohn's disease; ulcerative colitis; Crohn's disease ulcerative colitis; colorectal cancer; inflammatory bowel disease; Crohn's disease and IBD; Crohn's disease inflammatory bowel disease; Crohn Disease; Cholangitis, Sclerosing|Crohn Disease|Liver Cirrhosis, Biliary; Crohn's disease inflammatory bowel disease ulcerative colitis; Colitis, Ulcerative|Crohn Disease|; Crohn Disease|Rectal Fistula; Crohn Disease|Crohn's disease; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; gamma-Glutamyltransferase; Meningeal Neoplasms|meningioma; Crohn's disease; ulcerative colitis; inflammatory bowel disease	Mice homozygous for a null allele exhibit growth retardation, hydroencephaly, abnormal brain morphology, abnormal neurogenesis, kidney cysts, ureter defects, and abnormal kidney morphology.		GO:0001837;epithelial to mesenchymal transition;IMP|GO:0007165;signal transduction;TAS|GO:0008285;negative regulation of cell proliferation;TAS|GO:0016337;single organismal cell-cell adhesion;NAS|GO:0030011;maintenance of cell polarity;IMP|GO:0030336;negative regulation of cell migration;IMP|GO:0035331;negative regulation of hippo signaling;IMP|GO:0035332;positive regulation of hippo signaling;IMP|GO:0035556;intracellular signal transduction;NAS|GO:0042130;negative regulation of T cell proliferation;IMP|GO:0042981;regulation of apoptotic process;IEA|GO:0045880;positive regulation of smoothened signaling pathway;ISS|GO:0051965;positive regulation of synapse assembly;ISS|GO:0060999;positive regulation of dendritic spine development;ISS	GO:0005737;cytoplasm;TAS|GO:0005886;plasma membrane;TAS|GO:0014069;postsynaptic density;ISS|GO:0016020;membrane;IEA|GO:0030054;cell junction;IDA|GO:0036064;ciliary basal body;ISS	GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IDA|GO:0008092;cytoskeletal protein binding;IDA|GO:0030159;receptor signaling complex scaffold activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/DLG5	https://www.uniprot.org/uniprot/Q8TDM6		https://www.ncbi.nlm.nih.gov/omim/?term=604090	http://www.informatics.jax.org/searchtool/Search.do?query=DLG5&submit=Quick%0D%21118ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DLG5
10_101.305_148.305	Chr10:78740262-120743937	1.191	DNMBP	ENSG00000107554	dynamin binding protein	chr10:101635334-101769676	This gene encodes a protein belonging to the guanine nucleotide exchange factor family, and which regulates the configuration of cell junctions. It contains multiple binding sites for dynamin and thus links dynamin to actin regulatory proteins. Polymorphisms in this gene have been linked to Alzheimer's disease in some populations, though there are conflicting reports of such linkages in other populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]	Alzheimer's disease; Alzheimer's disease 	 		GO:0007264;small GTPase mediated signal transduction;IBA|GO:0035023;regulation of Rho protein signal transduction;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005795;Golgi stack;IEA|GO:0005856;cytoskeleton;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005089;Rho guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DNMBP	https://www.uniprot.org/uniprot/Q6XZF7		https://www.ncbi.nlm.nih.gov/omim/?term=611282	http://www.informatics.jax.org/searchtool/Search.do?query=DNMBP&submit=Quick%0D%3614ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNMBP
10_101.305_148.305	Chr10:78740262-120743937	1.191	DNTT	ENSG00000107447	DNA nucleotidylexotransferase	chr10:98064085-98098321	This gene is a member of the DNA polymerase type-X family and encodes a template-independent DNA polymerase that catalyzes the addition of deoxynucleotides to the 3'-hydroxyl terminus of oligonucleotide primers. In vivo, the encoded protein is expressed in a restricted population of normal and malignant pre-B and pre-T lymphocytes during early differentiation, where it generates antigen receptor diversity by synthesizing non-germ line elements (N-regions) at the junctions of rearranged Ig heavy chain and T cell receptor gene segments. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jul 2008]	Alzheimer's disease 	Homozygous inactivation of this gene results in lack of "N" nucleotide insertions at the junctions of immunoglobulin and T cell receptor V(D)J rearrangements. Forced expression of terminal deoxynucleotidyl transferase in fetal thymus leads to decreased gamma-delta T cell number.		GO:0006259;DNA metabolic process;IDA|GO:0006304;DNA modification;IEA|GO:0033198;response to ATP;IEA|GO:0071897;DNA biosynthetic process;IEA	GO:0000790;nuclear chromatin;IEA|GO:0000791;euchromatin;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0016363;nuclear matrix;IEA	GO:0003677;DNA binding;IEA|GO:0003887;DNA-directed DNA polymerase activity;IEA|GO:0003912;DNA nucleotidylexotransferase activity;TAS|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0034061;DNA polymerase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DNTT	https://www.uniprot.org/uniprot/P04053		https://www.ncbi.nlm.nih.gov/omim/?term=187410	http://www.informatics.jax.org/searchtool/Search.do?query=DNTT&submit=Quick%0D%3608ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DNTT
10_101.305_148.305	Chr10:78740262-120743937	1.191	DPCD	ENSG00000166171	deleted in primary ciliary dyskinesia homolog (mouse)	chr10:103330317-103369425	This gene in mouse encodes a protein that may be involved in the generation and maintenance of ciliated cells. In mouse, expression of this gene increases during ciliated cell differentiation, and disruption of this gene has been linked to primary ciliary dyskinesia. [provided by RefSeq, Jul 2016]	Alzheimer's disease 	 		GO:0003351;epithelial cilium movement;IEA|GO:0007283;spermatogenesis;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0021591;ventricular system development;IEA|GO:0021670;lateral ventricle development;IEA|GO:0021678;third ventricle development;IEA|GO:0030317;flagellated sperm motility;IEA|GO:0060972;left/right pattern formation;IEA	GO:0005634;nucleus;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/DPCD			https://www.ncbi.nlm.nih.gov/omim/?term=616467	http://www.informatics.jax.org/searchtool/Search.do?query=DPCD&submit=Quick%0D%11719ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DPCD
2_252.744_266.744	Chr2:235528138-241561721	0.223	DUSP28	ENSG00000188542	dual specificity phosphatase 28	chr2:241499471-241503431			 		GO:0006470;protein dephosphorylation;IEA|GO:0016311;dephosphorylation;IDA|GO:0035335;peptidyl-tyrosine dephosphorylation;IBA		GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;IEA|GO:0008138;protein tyrosine/serine/threonine phosphatase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/DUSP28				http://www.informatics.jax.org/searchtool/Search.do?query=DUSP28&submit=Quick%0D%16052ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DUSP28
10_101.305_148.305	Chr10:78740262-120743937	1.191	DUSP5	ENSG00000138166	dual specificity phosphatase 5	chr10:112257596-112271302	 The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily.  These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues.  They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which are associated with cellular proliferation and differentiation.  Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli.  This gene product inactivates ERK1, is expressed in a variety of tissues with the highest levels in pancreas and brain, and is localized in the nucleus. [provided by RefSeq, Jul 2008]	ovarian cancer; Type 2 Diabetes| edema | rosiglitazone; Alzheimer's disease 	Mice homozygous for a knock-out allele exhibit increased proliferation and apoptosis and altered metabolic profiles in T cells. Mice homozygous for other null alleles exhibit altered eosinophilic response to parasicitc infection and increased susceptibility to induced tumors.	Negative regulation of MAPK pathway	GO:0000165;MAPK cascade;TAS|GO:0000187;activation of MAPK activity;TAS|GO:0000188;inactivation of MAPK activity;IEA|GO:0001706;endoderm formation;IBA|GO:0006470;protein dephosphorylation;TAS|GO:0016311;dephosphorylation;IDA|GO:0035335;peptidyl-tyrosine dephosphorylation;IDA|GO:0035970;peptidyl-threonine dephosphorylation;IDA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS	GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004725;protein tyrosine phosphatase activity;TAS|GO:0005515;protein binding;IPI|GO:0008138;protein tyrosine/serine/threonine phosphatase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IDA|GO:0017017;MAP kinase tyrosine/serine/threonine phosphatase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/DUSP5	https://www.uniprot.org/uniprot/Q16690		https://www.ncbi.nlm.nih.gov/omim/?term=603069	http://www.informatics.jax.org/searchtool/Search.do?query=DUSP5&submit=Quick%0D%7689ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DUSP5
10_101.305_148.305	Chr10:78740262-120743937	1.191	DYDC1	ENSG00000170788	DPY30 domain containing 1	chr10:82095861-82116511	This gene encodes a member of a family of proteins that contains a DPY30 domain. The encoded protein is involved in acrosome formation during spermatid development. This gene locus overlaps with a closely related gene on the opposite strand. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]	Alzheimer's disease 	 		GO:0006348;chromatin silencing at telomere;IBA|GO:0051568;histone H3-K4 methylation;IEA	GO:0000781;chromosome, telomeric region;IEA|GO:0048188;Set1C/COMPASS complex;IBA	GO:0005515;protein binding;IPI|GO:0042800;histone methyltransferase activity (H3-K4 specific);IBA	http://www.genecards.org/index.php?path=/Search/keyword/DYDC1			https://www.ncbi.nlm.nih.gov/omim/?term=615154	http://www.informatics.jax.org/searchtool/Search.do?query=DYDC1&submit=Quick%0D%12775ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DYDC1
10_101.305_148.305	Chr10:78740262-120743937	1.191	DYDC2	ENSG00000133665	DPY30 domain containing 2	chr10:82104501-82127829	This gene encodes a member of a family of proteins that contains a DPY30 domain. This gene locus overlaps with a closely related gene on the opposite strand. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]	Alzheimer's disease 	 		GO:0006348;chromatin silencing at telomere;IBA|GO:0051568;histone H3-K4 methylation;IEA	GO:0000781;chromosome, telomeric region;IEA|GO:0048188;Set1C/COMPASS complex;IBA	GO:0042800;histone methyltransferase activity (H3-K4 specific);IBA	http://www.genecards.org/index.php?path=/Search/keyword/DYDC2	https://www.uniprot.org/uniprot/Q96IM9			http://www.informatics.jax.org/searchtool/Search.do?query=DYDC2&submit=Quick%0D%6857ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=DYDC2
10_101.305_148.305	Chr10:78740262-120743937	1.191	EIF5AL1	ENSG00000253626	eukaryotic translation initiation factor 5A-like 1	chr10:81272357-81276188			 		GO:0006412;translation;IEA|GO:0006414;translational elongation;IEA|GO:0006452;translational frameshifting;IEA|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0045901;positive regulation of translational elongation;IEA|GO:0045905;positive regulation of translational termination;IEA|GO:0051028;mRNA transport;IEA	GO:0005634;nucleus;IEA|GO:0005643;nuclear pore;IEA|GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA	GO:0003723;RNA binding;IEA|GO:0003746;translation elongation factor activity;IEA|GO:0043022;ribosome binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EIF5AL1				http://www.informatics.jax.org/searchtool/Search.do?query=EIF5AL1&submit=Quick%0D%20031ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EIF5AL1
10_101.305_148.305	Chr10:78740262-120743937	1.191	ELOVL3	ENSG00000119915	ELOVL fatty acid elongase 3	chr10:103986085-103989346	This gene encodes a protein that belongs to the GNS1/SUR4 family. Members of this family play a role in elongation of long chain fatty acids to provide precursors for synthesis of sphingolipids and ceramides. [provided by RefSeq, Jul 2013]		Homozygous mutants have a sparse coat, hyperplastic pilosebaceous system, and abnormal hair lipid content with high levels of eicosenoic acid.  Liver and brown adipose tissue functions are normal.	Synthesis of very long-chain fatty acyl-CoAs	GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IEA|GO:0006636;unsaturated fatty acid biosynthetic process;IEA|GO:0019367;fatty acid elongation, saturated fatty acid;IDA|GO:0034625;fatty acid elongation, monounsaturated fatty acid;IDA|GO:0034626;fatty acid elongation, polyunsaturated fatty acid;IDA|GO:0035338;long-chain fatty-acyl-CoA biosynthetic process;TAS|GO:0036109;alpha-linolenic acid metabolic process;TAS|GO:0042761;very long-chain fatty acid biosynthetic process;IDA|GO:0043651;linoleic acid metabolic process;TAS	GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI|GO:0009922;fatty acid elongase activity;EXP|GO:0016740;transferase activity;IEA|GO:0102336;3-oxo-arachidoyl-CoA synthase activity;IEA|GO:0102337;3-oxo-cerotoyl-CoA synthase activity;IEA|GO:0102338;3-oxo-lignoceronyl-CoA synthase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ELOVL3	https://www.uniprot.org/uniprot/Q9HB03		https://www.ncbi.nlm.nih.gov/omim/?term=611815	http://www.informatics.jax.org/searchtool/Search.do?query=ELOVL3&submit=Quick%0D%5135ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ELOVL3
10_101.305_148.305	Chr10:78740262-120743937	1.191	EMX2	ENSG00000170370	empty spiracles homeobox 2	chr10:119301955-119309056	This gene encodes a homeobox-containing transcription factor that is the homolog to the 'empty spiracles' gene in Drosophila. Research on this gene in humans has focused on its expression in three tissues: dorsal telencephalon, olfactory neuroepithelium, and urogenetial system. It is expressed in the dorsal telencephalon during development in a low rostral-lateral to high caudal-medial gradient and is proposed to pattern the neocortex into defined functional areas. It is also expressed in embryonic and adult olfactory neuroepithelia where it complexes with eukaryotic translation initiation factor 4E (eIF4E) and possibly regulates mRNA transport or translation. In the developing urogenital system, it is expressed in epithelial tissues and is negatively regulated by HOXA10. Alternative splicing results in multiple transcript variants encoding distinct proteins.[provided by RefSeq, Sep 2009]	depression; Coronary Artery Disease; Cholesterol; endometriosis; Body Weight; Cleft Lip|Cleft Palate; Conduct Disorder; Tunica Media; Triglycerides; Basophils; schizencephaly; Iron	Homozygous disruption of this gene causes neonatal death, impaired urogenital development and malformation of several forebrain regions. Heterozygotes for a null allele show middle and inner ear defects. Homozygotes for an ENU-induced allele die neonatally with middle ear defects and small kidneys.		GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0007420;brain development;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0010468;regulation of gene expression;IEA|GO:0021542;dentate gyrus development;IEA|GO:0021796;cerebral cortex regionalization;IEA|GO:0021846;cell proliferation in forebrain;IEA|GO:0021885;forebrain cell migration;IEA|GO:0021987;cerebral cortex development;IEA|GO:0030182;neuron differentiation;IEA|GO:0030900;forebrain development;IEA|GO:0042493;response to drug;IEA|GO:0072001;renal system development;IEA	GO:0005634;nucleus;IEA	GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/EMX2		https://hpo.jax.org/app/browse/search?q=EMX2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600035	http://www.informatics.jax.org/searchtool/Search.do?query=EMX2&submit=Quick%0D%12687ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EMX2
10_101.305_148.305	Chr10:78740262-120743937	1.191	ENO4	ENSG00000188316	enolase family member 4	chr10:118609023-118671299		ENOLASE SPERM SPECIFIC	Mice homozygous for a gene trap allele exhibit male infertility associated with abnormal sperm morphology, number and motility.		GO:0006096;glycolytic process;IEA|GO:0008150;biological_process;ND	GO:0000015;phosphopyruvate hydratase complex;IEA|GO:0005575;cellular_component;ND	GO:0000287;magnesium ion binding;IEA|GO:0003674;molecular_function;ND|GO:0004634;phosphopyruvate hydratase activity;IEA|GO:0016829;lyase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ENO4			https://www.ncbi.nlm.nih.gov/omim/?term=131375	http://www.informatics.jax.org/searchtool/Search.do?query=ENO4&submit=Quick%0D%16011ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ENO4
10_101.305_148.305	Chr10:78740262-120743937	1.191	ENTPD1	ENSG00000138185	ectonucleoside triphosphate diphosphohydrolase 1	chr10:97471536-97637023	The protein encoded by this gene is a plasma membrane protein that hydrolyzes extracellular ATP and ADP to AMP. Inhibition of this protein's activity may confer anticancer benefits. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]	Diabetes Mellitus, Type 2|Diabetic Nephropathies|Disease Models, Animal|Kidney Failure, Chronic; Tobacco Use Disorder; Alzheimer's disease 	Mice homozygous for disruptions in this gene display abnormalities in muscle contraction, synaptic transmitter release and blood coagulation.	Phosphate bond hydrolysis by NTPDase proteins	GO:0007155;cell adhesion;NAS|GO:0007596;blood coagulation;TAS|GO:0034656;nucleobase-containing small molecule catabolic process;TAS	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0017110;nucleoside-diphosphatase activity;EXP|GO:0017111;nucleoside-triphosphatase activity;EXP|GO:0102490;8-oxo-dGTP phosphohydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ENTPD1	https://www.uniprot.org/uniprot/P49961	https://hpo.jax.org/app/browse/search?q=ENTPD1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601752	http://www.informatics.jax.org/searchtool/Search.do?query=ENTPD1&submit=Quick%0D%7694ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ENTPD1
10_101.305_148.305	Chr10:78740262-120743937	1.191	ENTPD7	ENSG00000198018	ectonucleoside triphosphate diphosphohydrolase 7	chr10:101419263-101465997		Alcoholism; Alzheimer's disease	Mice homozygous for deletions in this gene have increased Th17 T cell levels in the lamina propria of the small intestine.  They show increased resistance to Citrobacter rodentium infection and increased susceptibility to experimental autoimmune encephalomyelitis.	Phosphate bond hydrolysis by NTPDase proteins	GO:0034656;nucleobase-containing small molecule catabolic process;TAS	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0030666;endocytic vesicle membrane;TAS|GO:0031410;cytoplasmic vesicle;IEA	GO:0016787;hydrolase activity;IEA|GO:0017111;nucleoside-triphosphatase activity;EXP|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ENTPD7			https://www.ncbi.nlm.nih.gov/omim/?term=616753	http://www.informatics.jax.org/searchtool/Search.do?query=ENTPD7&submit=Quick%0D%16786ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ENTPD7
10_101.305_148.305	Chr10:78740262-120743937	1.191	ERLIN1	ENSG00000107566	ER lipid raft associated 1	chr10:101909851-101948091		Tobacco Use Disorder; plasma levels of liver enzymes; liver enzymes	 	Defective CFTR causes cystic fibrosis	GO:0006629;lipid metabolic process;IEA|GO:0008202;steroid metabolic process;IEA|GO:0008203;cholesterol metabolic process;IEA|GO:0030433;ubiquitin-dependent ERAD pathway;IDA|GO:0032933;SREBP signaling pathway;IMP|GO:0045541;negative regulation of cholesterol biosynthetic process;IMP|GO:0045717;negative regulation of fatty acid biosynthetic process;IMP|GO:0055085;transmembrane transport;TAS	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043234;protein complex;IDA	GO:0005515;protein binding;IPI|GO:0008289;lipid binding;IEA|GO:0015485;cholesterol binding;IDA|GO:0031625;ubiquitin protein ligase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ERLIN1	https://www.uniprot.org/uniprot/O75477	https://hpo.jax.org/app/browse/search?q=ERLIN1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611604	http://www.informatics.jax.org/searchtool/Search.do?query=ERLIN1&submit=Quick%0D%3617ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ERLIN1
2_252.744_266.744	Chr2:235528138-241561721	0.223	ESPNL	ENSG00000144488	espin like	chr2:239008798-239041928			 		GO:0051017;actin filament bundle assembly;IBA	GO:0005737;cytoplasm;IBA|GO:0031941;filamentous actin;IBA	GO:0051015;actin filament binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/ESPNL	https://www.uniprot.org/uniprot/Q6ZVH7			http://www.informatics.jax.org/searchtool/Search.do?query=ESPNL&submit=Quick%0D%8615ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ESPNL
10_101.305_148.305	Chr10:78740262-120743937	1.191	EXOC6	ENSG00000138190	exocyst complex component 6	chr10:94590935-94819250	The protein encoded by this gene is highly similar to the Saccharomyces cerevisiae SEC15 gene product, which is essential for vesicular traffic from the Golgi apparatus to the cell surface in yeast. It is one of the components of a multiprotein complex required for exocytosis. The 5' portion of this gene and two neighboring cytochrome p450 genes are included in a deletion that results in an autosomal-dominant form of nonsyndromic optic nerve aplasia (ONA). Alternative splicing and the use of alternative promoters results in multiple transcript variants. A paralogous gene encoding a similar protein is present on chromosome 2. [provided by RefSeq, Jan 2016]	Alzheimer's disease ; Tobacco Use Disorder	Homozygotes for a spontaneous mutation exhibit severe microcytic anemia, erythrocyte hyperchromia, and markedly increased levels of red cell protoporphyrin.	VxPx cargo-targeting to cilium	GO:0006810;transport;IEA|GO:0006887;exocytosis;IEA|GO:0006904;vesicle docking involved in exocytosis;IEA|GO:0015031;protein transport;IEA	GO:0000145;exocyst;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/EXOC6	https://www.uniprot.org/uniprot/Q8TAG9		https://www.ncbi.nlm.nih.gov/omim/?term=609672	http://www.informatics.jax.org/searchtool/Search.do?query=EXOC6&submit=Quick%0D%7695ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EXOC6
10_101.305_148.305	Chr10:78740262-120743937	1.191	EXOSC1	ENSG00000171311	exosome component 1	chr10:99195899-99205774	This gene encodes a core component of the exosome. The mammalian exosome is required for rapid degradation of AU rich element-containing RNAs but not for poly(A) shortening. The association of this protein with the exosome is mediated by protein-protein interactions with ribosomal RNA-processing protein 42 and ribosomal RNA-processing protein 46. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2016]		 	Major pathway of rRNA processing in the nucleolus and cytosol	GO:0006364;rRNA processing;TAS|GO:0043488;regulation of mRNA stability;TAS|GO:0043928;exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay;TAS	GO:0000176;nuclear exosome (RNase complex);IBA|GO:0000178;exosome (RNase complex);IDA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/EXOSC1			https://www.ncbi.nlm.nih.gov/omim/?term=606493	http://www.informatics.jax.org/searchtool/Search.do?query=EXOSC1&submit=Quick%0D%12899ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=EXOSC1
10_101.305_148.305	Chr10:78740262-120743937	1.191	FAM160B1	ENSG00000151553	family with sequence similarity 160 member B1	chr10:116581503-116659591		Body Height	 					http://www.genecards.org/index.php?path=/Search/keyword/FAM160B1	https://www.uniprot.org/uniprot/Q5W0V3		https://www.ncbi.nlm.nih.gov/omim/?term=617312	http://www.informatics.jax.org/searchtool/Search.do?query=FAM160B1&submit=Quick%0D%9436ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM160B1
10_101.305_148.305	Chr10:78740262-120743937	1.191	FAM204A	ENSG00000165669	family with sequence similarity 204 member A	chr10:120065401-120101840		Alzheimer's disease ; Tobacco Use Disorder; Pancreatic Neoplasms	 					http://www.genecards.org/index.php?path=/Search/keyword/FAM204A				http://www.informatics.jax.org/searchtool/Search.do?query=FAM204A&submit=Quick%0D%11594ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM204A
10_101.305_148.305	Chr10:78740262-120743937	1.191	FAM213A	ENSG00000122378	family with sequence similarity 213 member A	chr10:82167585-82192753		Acquired Immunodeficiency Syndrome|Disease Progression	Mice homozygous for a knock-out allele exhibit reduced circulating adipokine levels and decreased collagen deposition in adipose tissue along with mild adipocyte ER stress and hyperinsulinemia.		GO:0045670;regulation of osteoclast differentiation;IDA|GO:0055114;oxidation-reduction process;IDA|GO:0098869;cellular oxidant detoxification;IEA	GO:0005576;extracellular region;IEA|GO:0005737;cytoplasm;IDA|GO:0070062;extracellular exosome;IDA	GO:0016209;antioxidant activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/FAM213A	https://www.uniprot.org/uniprot/Q9BRX8		https://www.ncbi.nlm.nih.gov/omim/?term=617165	http://www.informatics.jax.org/searchtool/Search.do?query=FAM213A&submit=Quick%0D%5405ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM213A
22_4.194_23.194	Chr22:17733575-25291782	0.374	FAM230A	ENSG00000277870	family with sequence similarity 230 member A	chr22:20692438-20716938			 					http://www.genecards.org/index.php?path=/Search/keyword/FAM230A				http://www.informatics.jax.org/searchtool/Search.do?query=FAM230A&submit=Quick%0D%21922ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM230A
10_101.305_148.305	Chr10:78740262-120743937	1.191	FAM25A	ENSG00000188100	family with sequence similarity 25 member A	chr10:88780063-88784487								http://www.genecards.org/index.php?path=/Search/keyword/FAM25A				http://www.informatics.jax.org/searchtool/Search.do?query=FAM25A&submit=Quick%0D%15967ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM25A
10_101.305_148.305	Chr10:78740262-120743937	1.191	FAM35A	ENSG00000122376	family with sequence similarity 35 member A	chr10:88853918-88951225			 					http://www.genecards.org/index.php?path=/Search/keyword/FAM35A	https://www.uniprot.org/uniprot/Q86V20			http://www.informatics.jax.org/searchtool/Search.do?query=FAM35A&submit=Quick%0D%5404ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAM35A
10_101.305_148.305	Chr10:78740262-120743937	1.191	FAS	ENSG00000026103	Fas cell surface death receptor	chr10:90750414-90775542	The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains a death domain. It has been shown to play a central role in the physiological regulation of programmed cell death, and has been implicated in the pathogenesis of various malignancies and diseases of the immune system. The interaction of this receptor with its ligand allows the formation of a death-inducing signaling complex that includes Fas-associated death domain protein (FADD), caspase 8, and caspase 10. The autoproteolytic processing of the caspases in the complex triggers a downstream caspase cascade, and leads to apoptosis. This receptor has been also shown to activate NF-kappaB, MAPK3/ERK1, and MAPK8/JNK, and is found to be involved in transducing the proliferating signals in normal diploid fibroblast and T cells. Several alternatively spliced transcript variants have been described, some of which are candidates for nonsense-mediated mRNA decay (NMD). The isoforms lacking the transmembrane domain may negatively regulate the apoptosis mediated by the full length isoform. [provided by RefSeq, Mar 2011]	breast cancer; Premature Birth; renal allograft rejection; melanoma; extranodal disease; Lymphocytosis|Lymphoproliferative Disorders; hepatitis C; esophageal adenocarcinoma; HTLV-I Infections|Leukemia, T-Cell; lymphoma; Alopecia Areata; Cervical Intraepithelial Neoplasia|Cervical Neoplasm|Uterine Cervical Neoplasms; esophageal cancer ; Hepatitis C, Chronic|Necrosis; Eye Diseases; Graves Disease; esophageal cancer; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|melanoma|Skin Basal Cell Carcinoma|Skin Neoplasms|Squamous cell carcinoma; Bone Neoplasms|osteosarcoma; liver transplant; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Neoplasms, Second Primary|Squamous cell carcinoma; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; thrombocytopenia; Lupus; benzene haematotoxicity; Leukemia, Myeloid, Acute|Leukemias, Acute Myeloblastic; Obesity; body mass diabetes, type 2 insulin; Fetal Growth Retardation; Longevity; Infertility, Male; chronic obstructive pulmonary disease; preeclampsia; intrauterine growth; obesity; stomach cancer; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; Colorectal Neoplasms; heart transplant; systemic lupus erythematosus ; Alzheimer's Disease; Fetal Membranes, Premature Rupture; Leukemia, Myeloid, Acute; Breast Neoplasms|Neoplasms; Helicobacter Infections|Intestinal Neoplasms|Precancerous Conditions|Stomach Neoplasms; Nasopharyngeal Neoplasms; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; systemic sclerosis; cardiovascular risk| polycystic ovary syndrome ; melanoma|Skin Neoplasms; HIV; Sjogren's syndrome, primary; Crohn's disease; ulcerative colitis; Uterine Cervical Neoplasms; Hyperlipidemias|Hypertension|Myocardial Infarction; Adenocarcinoma|Esophageal Neoplasms|Gastroesophageal Reflux|Oesophageal neoplasm; cervical cancer; Silicosis; Type 2 Diabetes| edema | rosiglitazone; Sjogren's syndrome; leukemia, myeloid; Heart Function Tests; neuropathy; longevity; lung cancer; patent ductus arteriosus; breast cancer ; preterm delivery; nasopharyngeal cancer; Alzheimer's disease; null; Autoimmune Lymphoproliferative Syndrome|Lymphoma; Adenocarcinoma|Carcinoma, Squamous Cell|Cervical Intraepithelial Neoplasia|Cervical Neoplasm|Precancerous Conditions|Squamous cell carcinoma|Uterine Cervical Neoplasms; endometriosis; Stomach Neoplasms; Immunoglobulin A; preeclampsia; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Hepatitis C, Chronic|HIV Infections|Liver Diseases; spondyloarthropathies; ovarian cancer; celiac disease; head and neck cancer; lung cancer ; Colitis, Ulcerative|Crohn Disease|; Glucose; Chronic renal failure|Kidney Failure, Chronic; colorectal cancer; DNA Damage|Glaucoma, Open-Angle|Mitochondrial Diseases; Scleroderma, Systemic; Heart Rate; multiple sclerosis; HIV-Associated Lipodystrophy Syndrome; Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Neovascularization, Pathologic; Carcinoma, Renal Cell|Renal Cell Carcinoma; Autoimmune Diseases|Lymphoma|Lymphoproliferative Disorders|Syndrome; Neoplasms, Prostatic|Prostatic Neoplasms; Heart Failure; thyroid cancer; Alzheimer's disease ; Inflammation|Premature Birth; Sarcoidosis; cirrhosis, biliary primary; hepatitis type 1, autoimmune (AIH-1); cervical intraepithelial neoplasia grade 3; systemic lupus erythematosus; Azoospermia|Oligospermia; Adenocarcinoma|Stomach Neoplasms; Carcinoma, Squamous Cell|Leukoplakia, Oral|Mouth Neoplasms|Oral Submucous Fibrosis|Precancerous Conditions|Squamous cell carcinoma; Cervical Neoplasm|Lymphatic Metastasis|Uterine Cervical Neoplasms; Diabetes Mellitus|Pancreatic Neoplasms; Carcinoma, Hepatocellular|Hepatitis B|Hepatitis C, Chronic|LCC - Liver cell carcinoma; Carcinoma, Squamous Cell|Esophageal Neoplasms; Vitiligo; Type 2 diabetes; FAS levels; kidney transplant complications; bladder cancer; HELLP syndrome; cervical cancer endometrial cancer ovarian cancer; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary; Carcinoma, Squamous Cell|Uterine Cervical Neoplasms; Neoplasms; Juvenile Idiopathic Arthritis; Infection|Inflammation|Premature Birth; Multiple Myeloma	Mutations in this locus affect immune function and homozygotes show varying severity of lymphadenopathy, splenomegaly, lymphocytic infiltrations, elevated immunoglobulin levels, autoantibodies, impaired clonal deletion of T cells, and lupus-like disease.	FasL/ CD95L signaling	GO:0001934;positive regulation of protein phosphorylation;IMP|GO:0002377;immunoglobulin production;IEA|GO:0003014;renal system process;IEA|GO:0006461;protein complex assembly;TAS|GO:0006915;apoptotic process;IEA|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;TAS|GO:0006924;activation-induced cell death of T cells;IEA|GO:0006925;inflammatory cell apoptotic process;IEA|GO:0006954;inflammatory response;IBA|GO:0006955;immune response;IEA|GO:0007165;signal transduction;IEA|GO:0007275;multicellular organism development;IBA|GO:0007623;circadian rhythm;IEA|GO:0008625;extrinsic apoptotic signaling pathway via death domain receptors;IEA|GO:0009636;response to toxic substance;IEA|GO:0010467;gene expression;IEA|GO:0019724;B cell mediated immunity;IEA|GO:0032464;positive regulation of protein homooligomerization;IEA|GO:0032496;response to lipopolysaccharide;IBA|GO:0032872;regulation of stress-activated MAPK cascade;IMP|GO:0033209;tumor necrosis factor-mediated signaling pathway;IEA|GO:0034198;cellular response to amino acid starvation;IMP|GO:0036337;Fas signaling pathway;IMP|GO:0042127;regulation of cell proliferation;IBA|GO:0042981;regulation of apoptotic process;TAS|GO:0043029;T cell homeostasis;IEA|GO:0043065;positive regulation of apoptotic process;IDA|GO:0043066;negative regulation of apoptotic process;TAS|GO:0045060;negative thymic T cell selection;IEA|GO:0045619;regulation of lymphocyte differentiation;IEA|GO:0045637;regulation of myeloid cell differentiation;IEA|GO:0048536;spleen development;IEA|GO:0050869;negative regulation of B cell activation;IEA|GO:0051260;protein homooligomerization;IEA|GO:0051384;response to glucocorticoid;IEA|GO:0051402;neuron apoptotic process;IEA|GO:0070230;positive regulation of lymphocyte apoptotic process;IEA|GO:0071260;cellular response to mechanical stimulus;IEP|GO:0071285;cellular response to lithium ion;IEA|GO:0071455;cellular response to hyperoxia;IMP|GO:0097049;motor neuron apoptotic process;IEA|GO:0097190;apoptotic signaling pathway;TAS|GO:0097191;extrinsic apoptotic signaling pathway;IMP|GO:0097192;extrinsic apoptotic signaling pathway in absence of ligand;IEA|GO:0097284;hepatocyte apoptotic process;IEA|GO:0097296;activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway;TAS|GO:0097527;necroptotic signaling pathway;IMP|GO:1902041;regulation of extrinsic apoptotic signaling pathway via death domain receptors;TAS|GO:1902042;negative regulation of extrinsic apoptotic signaling pathway via death domain receptors;TAS|GO:2001235;positive regulation of apoptotic signaling pathway;IMP|GO:2001238;positive regulation of extrinsic apoptotic signaling pathway;IEA|GO:2001241;positive regulation of extrinsic apoptotic signaling pathway in absence of ligand;IEA|GO:2001269;positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway;IMP|GO:0001934;positive regulation of protein phosphorylation;IMP|GO:0002377;immunoglobulin production;IEA|GO:0003014;renal system process;IEA|GO:0006461;protein complex assembly;TAS|GO:0006915;apoptotic process;IEA|GO:0006919;activation of cysteine-type endopeptidase activity involved in apoptotic process;TAS|GO:0006924;activation-induced cell death of T cells;IEA|GO:0006925;inflammatory cell apoptotic process;IEA|GO:0006954;inflammatory response;IBA|GO:0006955;immune response;IEA|GO:0007165;signal transduction;IEA|GO:0007275;multicellular organism development;IBA|GO:0007623;circadian rhythm;IEA|GO:0008625;extrinsic apoptotic signaling pathway via death domain receptors;IEA|GO:0009636;response to toxic substance;IEA|GO:0010467;gene expression;IEA|GO:0019724;B cell mediated immunity;IEA|GO:0032464;positive regulation of protein homooligomerization;IEA|GO:0032496;response to lipopolysaccharide;IBA|GO:0032872;regulation of stress-activated MAPK cascade;IMP|GO:0033209;tumor necrosis factor-mediated signaling pathway;IEA|GO:0034198;cellular response to amino acid starvation;IMP|GO:0036337;Fas signaling pathway;IMP|GO:0042127;regulation of cell proliferation;IBA|GO:0042981;regulation of apoptotic process;TAS|GO:0043029;T cell homeostasis;IEA|GO:0043065;positive regulation of apoptotic process;IDA|GO:0043066;negative regulation of apoptotic process;TAS|GO:0045060;negative thymic T cell selection;IEA|GO:0045619;regulation of lymphocyte differentiation;IEA|GO:0045637;regulation of myeloid cell differentiation;IEA|GO:0048536;spleen development;IEA|GO:0050869;negative regulation of B cell activation;IEA|GO:0051260;protein homooligomerization;IEA|GO:0051384;response to glucocorticoid;IEA|GO:0051402;neuron apoptotic process;IEA|GO:0070230;positive regulation of lymphocyte apoptotic process;IEA|GO:0071260;cellular response to mechanical stimulus;IEP|GO:0071285;cellular response to lithium ion;IEA|GO:0071455;cellular response to hyperoxia;IMP|GO:0097049;motor neuron apoptotic process;IEA|GO:0097190;apoptotic signaling pathway;TAS|GO:0097191;extrinsic apoptotic signaling pathway;IMP|GO:0097192;extrinsic apoptotic signaling pathway in absence of ligand;IEA|GO:0097284;hepatocyte apoptotic process;IEA|GO:0097296;activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway;TAS|GO:0097527;necroptotic signaling pathway;IMP|GO:1902041;regulation of extrinsic apoptotic signaling pathway via death domain receptors;TAS|GO:1902042;negative regulation of extrinsic apoptotic signaling pathway via death domain receptors;TAS|GO:2001235;positive regulation of apoptotic signaling pathway;IMP|GO:2001238;positive regulation of extrinsic apoptotic signaling pathway;IEA|GO:2001241;positive regulation of extrinsic apoptotic signaling pathway in absence of ligand;IEA|GO:2001269;positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway;IMP	GO:0005576;extracellular region;IEA|GO:0005739;mitochondrion;IBA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IDA|GO:0005887;integral component of plasma membrane;IBA|GO:0009897;external side of plasma membrane;IEA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016604;nuclear body;IDA|GO:0031264;death-inducing signaling complex;IDA|GO:0031265;CD95 death-inducing signaling complex;IDA|GO:0045121;membrane raft;IDA|GO:0070062;extracellular exosome;IDA	GO:0004871;signal transducer activity;TAS|GO:0004872;receptor activity;NAS|GO:0004888;transmembrane signaling receptor activity;IEA|GO:0005031;tumor necrosis factor-activated receptor activity;IBA|GO:0005515;protein binding;IPI|GO:0005516;calmodulin binding;IDA|GO:0019900;kinase binding;IPI|GO:0042802;identical protein binding;IPI|GO:0043120;tumor necrosis factor binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/FAS	https://www.uniprot.org/uniprot/P25445	https://hpo.jax.org/app/browse/search?q=FAS&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=134637	http://www.informatics.jax.org/searchtool/Search.do?query=FAS&submit=Quick%0D%65ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FAS
10_101.305_148.305	Chr10:78740262-120743937	1.191	FBXL15	ENSG00000107872	F-box and leucine rich repeat protein 15	chr10:104178946-104182893			 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000086;G2/M transition of mitotic cell cycle;IMP|GO:0000209;protein polyubiquitination;TAS|GO:0009953;dorsal/ventral pattern formation;ISS|GO:0016567;protein ubiquitination;IDA|GO:0030282;bone mineralization;IEA|GO:0030513;positive regulation of BMP signaling pathway;IMP|GO:0031146;SCF-dependent proteasomal ubiquitin-dependent protein catabolic process;IDA|GO:0043687;post-translational protein modification;TAS	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0019005;SCF ubiquitin ligase complex;IDA	GO:0004842;ubiquitin-protein transferase activity;EXP|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FBXL15	https://www.uniprot.org/uniprot/Q9H469		https://www.ncbi.nlm.nih.gov/omim/?term=610287	http://www.informatics.jax.org/searchtool/Search.do?query=FBXL15&submit=Quick%0D%3652ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FBXL15
10_101.305_148.305	Chr10:78740262-120743937	1.191	FBXW4	ENSG00000107829	F-box and WD repeat domain containing 4	chr10:103370423-103455052	This gene is a member of the F-box/WD-40 gene family, which recruit specific target proteins through their WD-40 protein-protein binding domains for ubiquitin mediated degradation. In mouse, a highly similar protein is thought to be responsible for maintaining the apical ectodermal ridge of developing limb buds; disruption of the mouse gene results in the absence of central digits, underdeveloped or absent metacarpal/metatarsal bones and syndactyly. This phenotype is remarkably similar to split hand-split foot malformation in humans, a clinically heterogeneous condition with a variety of modes of transmission. An autosomal recessive form has been mapped to the chromosomal region where this gene is located, and complex rearrangements involving duplications of this gene and others have been associated with the condition. A pseudogene of this locus has been mapped to one of the introns of the BCR gene on chromosome 22. [provided by RefSeq, Jul 2008]	SPLIT-HAND/FOOT MALFORMATION TYPE 3	Homozygotes for a spontaneous null mutation lack feet except for a single fused digit and die prenatally. Heterozygotes, in the presence of a recessive modifying allele, show loss of digits, frequently with fused metatarsal and metacarpal bones.	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000209;protein polyubiquitination;TAS|GO:0002053;positive regulation of mesenchymal cell proliferation;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;NAS|GO:0007275;multicellular organism development;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0030326;embryonic limb morphogenesis;NAS|GO:0031146;SCF-dependent proteasomal ubiquitin-dependent protein catabolic process;IBA|GO:0042733;embryonic digit morphogenesis;IEA|GO:0043687;post-translational protein modification;TAS|GO:0051216;cartilage development;IEA|GO:0060173;limb development;IEA	GO:0000151;ubiquitin ligase complex;NAS|GO:0005829;cytosol;TAS|GO:0019005;SCF ubiquitin ligase complex;IBA	GO:0003674;molecular_function;ND|GO:0004842;ubiquitin-protein transferase activity;EXP|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FBXW4	https://www.uniprot.org/uniprot/P57775		https://www.ncbi.nlm.nih.gov/omim/?term=608071	http://www.informatics.jax.org/searchtool/Search.do?query=FBXW4&submit=Quick%0D%3644ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FBXW4
10_101.305_148.305	Chr10:78740262-120743937	1.191	FFAR4	ENSG00000186188	free fatty acid receptor 4	chr10:95326422-95364237	This gene encodes a G protein-coupled receptor (GPR) which belongs to the rhodopsin family of GPRs. The encoded protein functions as a receptor for free fatty acids, including omega-3, and participates in suppressing anti-inflammatory responses and insulin sensitizing. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]	Narcolepsy; Tunica Media; Vitamin A	Homozygotes for a null allele show altered taste responses to fatty acids. Homozygotes for another null allele develop obesity, liver steatosis, and impaired glucose metabolism, adipogenesis and lipogenesis on a high-fat diet. Homozygotes for a third allele show altered islet somatostatin secretion.	Free fatty acid receptors	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0010827;regulation of glucose transport;ISS|GO:0043066;negative regulation of apoptotic process;ISS|GO:0045444;fat cell differentiation;IEA|GO:0046879;hormone secretion;IBA|GO:0050710;negative regulation of cytokine secretion;ISS|GO:0050728;negative regulation of inflammatory response;ISS|GO:0070374;positive regulation of ERK1 and ERK2 cascade;ISS	GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030139;endocytic vesicle;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0005504;fatty acid binding;IBA|GO:0008289;lipid binding;IEA|GO:0008527;taste receptor activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/FFAR4			https://www.ncbi.nlm.nih.gov/omim/?term=609044	http://www.informatics.jax.org/searchtool/Search.do?query=FFAR4&submit=Quick%0D%15589ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FFAR4
10_101.305_148.305	Chr10:78740262-120743937	1.191	FGF8	ENSG00000107831	fibroblast growth factor 8	chr10:103529899-103535854	The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein is known to be a factor that supports androgen and anchorage independent growth of mammary tumor cells. Overexpression of this gene has been shown to increase tumor growth and angiogensis. The adult expression of this gene is restricted to testes and ovaries. Temporal and spatial pattern of this gene expression suggests its function as an embryonic epithelial factor. Studies of the mouse and chick homologs revealed roles in midbrain and limb development, organogenesis, embryo gastrulation and left-right axis determination. The alternative splicing of this gene results in four transcript variants. [provided by RefSeq, Jul 2008]	Cleft Lip|Cleft Palate; hypospadias	Homozygotes for targeted mutations exhibit cardiovascular defects (including abnormal left-right axis determination), impaired limb, thymic, and craniofacial development, and prenatal or early postnatal lethality.	Signaling by FGFR3 point mutants in cancer	GO:0000165;MAPK cascade;TAS|GO:0001569;branching involved in blood vessel morphogenesis;IEA|GO:0001656;metanephros development;IEP|GO:0001658;branching involved in ureteric bud morphogenesis;IEA|GO:0001759;organ induction;IEA|GO:0001822;kidney development;IEA|GO:0001823;mesonephros development;IEP|GO:0001839;neural plate morphogenesis;IEA|GO:0001947;heart looping;IEA|GO:0001974;blood vessel remodeling;IEA|GO:0003007;heart morphogenesis;IEA|GO:0003148;outflow tract septum morphogenesis;ISS|GO:0003151;outflow tract morphogenesis;IEA|GO:0003198;epithelial to mesenchymal transition involved in endocardial cushion formation;ISS|GO:0006915;apoptotic process;IEA|GO:0006979;response to oxidative stress;IEA|GO:0007275;multicellular organism development;IEA|GO:0007368;determination of left/right symmetry;IEA|GO:0007369;gastrulation;NAS|GO:0007507;heart development;IEA|GO:0008045;motor neuron axon guidance;IEA|GO:0008078;mesodermal cell migration;IEA|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008406;gonad development;IMP|GO:0008543;fibroblast growth factor receptor signaling pathway;TAS|GO:0009653;anatomical structure morphogenesis;NAS|GO:0009792;embryo development ending in birth or egg hatching;IEA|GO:0010628;positive regulation of gene expression;TAS|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0014070;response to organic cyclic compound;IEA|GO:0018108;peptidyl-tyrosine phosphorylation;IEA|GO:0021537;telencephalon development;IEA|GO:0021543;pallium development;IEA|GO:0021544;subpallium development;IEA|GO:0021798;forebrain dorsal/ventral pattern formation;IEA|GO:0021846;cell proliferation in forebrain;IEA|GO:0021884;forebrain neuron development;IEA|GO:0021954;central nervous system neuron development;IEA|GO:0023019;signal transduction involved in regulation of gene expression;IEA|GO:0030154;cell differentiation;IEA|GO:0030324;lung development;IEA|GO:0030509;BMP signaling pathway;IEA|GO:0030539;male genitalia development;IEA|GO:0030878;thyroid gland development;IEA|GO:0030916;otic vesicle formation;IEA|GO:0030917;midbrain-hindbrain boundary development;IEA|GO:0033563;dorsal/ventral axon guidance;IEA|GO:0035050;embryonic heart tube development;IEA|GO:0035108;limb morphogenesis;IEA|GO:0035116;embryonic hindlimb morphogenesis;IEA|GO:0035909;aorta morphogenesis;IEA|GO:0036092;phosphatidylinositol-3-phosphate biosynthetic process;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0042476;odontogenesis;IEP|GO:0042487;regulation of odontogenesis of dentin-containing tooth;IEA|GO:0042493;response to drug;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0043524;negative regulation of neuron apoptotic process;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0045165;cell fate commitment;IEA|GO:0045597;positive regulation of cell differentiation;TAS|GO:0045840;positive regulation of mitotic nuclear division;IEA|GO:0046622;positive regulation of organ growth;IEA|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048699;generation of neurons;IEA|GO:0048853;forebrain morphogenesis;IEA|GO:0050918;positive chemotaxis;IEA|GO:0051781;positive regulation of cell division;IEA|GO:0055026;negative regulation of cardiac muscle tissue development;IMP|GO:0060037;pharyngeal system development;IEA|GO:0060070;canonical Wnt signaling pathway;IEA|GO:0060128;corticotropin hormone secreting cell differentiation;IEA|GO:0060129;thyroid-stimulating hormone-secreting cell differentiation;IEA|GO:0060348;bone development;IMP|GO:0060425;lung morphogenesis;IEA|GO:0060445;branching involved in salivary gland morphogenesis;IEA|GO:0060563;neuroepithelial cell differentiation;IDA|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IEA|GO:0071542;dopaminergic neuron differentiation;TAS|GO:0090134;cell migration involved in mesendoderm migration;IEA	GO:0005576;extracellular region;TAS|GO:0005622;intracellular;IEA|GO:0009897;external side of plasma membrane;IEA	GO:0004713;protein tyrosine kinase activity;TAS|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005104;fibroblast growth factor receptor binding;IEA|GO:0008083;growth factor activity;IEA|GO:0016303;1-phosphatidylinositol-3-kinase activity;TAS|GO:0042056;chemoattractant activity;IEA|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/FGF8	https://www.uniprot.org/uniprot/P55075	https://hpo.jax.org/app/browse/search?q=FGF8&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600483	http://www.informatics.jax.org/searchtool/Search.do?query=FGF8&submit=Quick%0D%3645ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FGF8
10_101.305_148.305	Chr10:78740262-120743937	1.191	FGFBP3	ENSG00000174721	fibroblast growth factor binding protein 3	chr10:93666346-93669240			Mice homozygous for a knock-out allele exhibit increased anxiety-related responses.	FGFR2b ligand binding and activation	GO:0043117;positive regulation of vascular permeability;IDA|GO:0045743;positive regulation of fibroblast growth factor receptor signaling pathway;IGI	GO:0005576;extracellular region;IDA|GO:0031012;extracellular matrix;IDA	GO:0008201;heparin binding;IDA|GO:0017134;fibroblast growth factor binding;IPI|GO:0019838;growth factor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/FGFBP3				http://www.informatics.jax.org/searchtool/Search.do?query=FGFBP3&submit=Quick%0D%13566ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FGFBP3
10_101.305_148.305	Chr10:78740262-120743937	1.191	FRA10AC1	ENSG00000148690	FRA10A associated CGG repeat 1	chr10:95427640-95462329	The protein encoded by this gene is a nuclear phosphoprotein of unknown function. The 5' UTR of this gene is part of a CpG island and contains a tandem CGG repeat region that normally consists of 8-14 repeats but can expand to over 200 repeats. The expanded allele becomes hypermethylated and is not transcribed; however, an expanded repeat region has not been associated with any disease phenotype. This gene is found within the rare FRA10A folate-sensitive fragile site. [provided by RefSeq, Mar 2010]	Body Height; Alzheimer's disease 	 			GO:0005634;nucleus;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FRA10AC1	https://www.uniprot.org/uniprot/Q70Z53		https://www.ncbi.nlm.nih.gov/omim/?term=608866	http://www.informatics.jax.org/searchtool/Search.do?query=FRA10AC1&submit=Quick%0D%9148ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FRA10AC1
10_101.305_148.305	Chr10:78740262-120743937	1.191	FRAT1	ENSG00000165879	FRAT1, WNT signaling pathway regulator	chr10:99079022-99081672	The protein encoded by this gene belongs to the GSK-3-binding protein family. The protein inhibits GSK-3-mediated phosphorylation of beta-catenin and positively regulates the Wnt signaling pathway. It may function in tumor progression and in lymphomagenesis. [provided by RefSeq, Oct 2008]	Alzheimer's disease 	Homozygous mice are healthy and fertile with no obvious abnormalities.	Disassembly of the destruction complex and recruitment of AXIN to the membrane	GO:0016055;Wnt signaling pathway;IEA|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/FRAT1			https://www.ncbi.nlm.nih.gov/omim/?term=602503	http://www.informatics.jax.org/searchtool/Search.do?query=FRAT1&submit=Quick%0D%11644ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FRAT1
10_101.305_148.305	Chr10:78740262-120743937	1.191	FRAT2	ENSG00000181274	FRAT2, WNT signaling pathway regulator	chr10:99092255-99094458	The protein encoded by this intronless gene belongs to the GSK-3-binding protein family. Studies show that this protein plays a role as a positive regulator of the WNT signaling pathway. It may be upregulated in tumor progression. [provided by RefSeq, Jul 2008]	Macular Degeneration; Bone Mineral Density	Homozygous mice are healthy and fertile with no obvious abnormalities.	Disassembly of the destruction complex and recruitment of AXIN to the membrane	GO:0007275;multicellular organism development;NAS|GO:0008283;cell proliferation;NAS|GO:0016055;Wnt signaling pathway;IEA|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0005575;cellular_component;ND|GO:0005829;cytosol;TAS	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/FRAT2			https://www.ncbi.nlm.nih.gov/omim/?term=605006	http://www.informatics.jax.org/searchtool/Search.do?query=FRAT2&submit=Quick%0D%14600ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=FRAT2
10_101.305_148.305	Chr10:78740262-120743937	1.191	GBF1	ENSG00000107862	golgi brefeldin A resistant guanine nucleotide exchange factor 1	chr10:104005289-104142656	This gene encodes a member of the Sec7 domain family. The encoded protein is a guanine nucleotide exchange factor that regulates the recruitment of proteins to membranes by mediating GDP to GTP exchange. The encoded protein is localized to the Golgi apparatus and plays a role in vesicular trafficking by activating ADP ribosylation factor 1. The encoded protein has also been identified as an important host factor for viral replication. Multiple transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]	benzene haematotoxicity; Type 2 Diabetes| edema | rosiglitazone; Tobacco Use Disorder; Echocardiography; Alzheimer's disease 	 	COPI-dependent Golgi-to-ER retrograde traffic	GO:0002263;cell activation involved in immune response;IMP|GO:0006810;transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;TAS|GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;TAS|GO:0006892;post-Golgi vesicle-mediated transport;TAS|GO:0006895;Golgi to endosome transport;IMP|GO:0007030;Golgi organization;IMP|GO:0007346;regulation of mitotic cell cycle;IMP|GO:0015031;protein transport;IEA|GO:0016032;viral process;IEA|GO:0030593;neutrophil chemotaxis;IMP|GO:0032012;regulation of ARF protein signal transduction;IEA|GO:0034067;protein localization to Golgi apparatus;IMP|GO:0042147;retrograde transport, endosome to Golgi;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0048205;COPI coating of Golgi vesicle;IMP|GO:0061162;establishment of monopolar cell polarity;IMP|GO:0070973;protein localization to endoplasmic reticulum exit site;IMP|GO:0090166;Golgi disassembly;IMP|GO:0097111;endoplasmic reticulum-Golgi intermediate compartment organization;IMP|GO:1903409;reactive oxygen species biosynthetic process;IMP|GO:1903420;protein localization to endoplasmic reticulum tubular network;IMP|GO:2000008;regulation of protein localization to cell surface;IMP	GO:0000139;Golgi membrane;TAS|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;IEA|GO:0005777;peroxisome;IEA|GO:0005788;endoplasmic reticulum lumen;IEA|GO:0005793;endoplasmic reticulum-Golgi intermediate compartment;IDA|GO:0005794;Golgi apparatus;IDA|GO:0005795;Golgi stack;IEA|GO:0005801;cis-Golgi network;IDA|GO:0005802;trans-Golgi network;IDA|GO:0005811;lipid particle;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0031252;cell leading edge;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;TAS|GO:0005086;ARF guanyl-nucleotide exchange factor activity;TAS|GO:0005515;protein binding;IPI|GO:0005547;phosphatidylinositol-3,4,5-trisphosphate binding;IDA|GO:0008289;lipid binding;IEA|GO:0080025;phosphatidylinositol-3,5-bisphosphate binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/GBF1	https://www.uniprot.org/uniprot/Q92538		https://www.ncbi.nlm.nih.gov/omim/?term=603698	http://www.informatics.jax.org/searchtool/Search.do?query=GBF1&submit=Quick%0D%3649ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GBF1
2_252.744_266.744	Chr2:235528138-241561721	0.223	GBX2	ENSG00000168505	gastrulation brain homeobox 2	chr2:237073879-237077012		Body Mass Index	Mice homozygous for a knock-out allele exhibit neonatal lethality associated with vascular, neurological, skeletal, and craniofacial defects.		GO:0001569;branching involved in blood vessel morphogenesis;IEA|GO:0001755;neural crest cell migration;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007399;nervous system development;TAS|GO:0007411;axon guidance;IEA|GO:0008283;cell proliferation;IEA|GO:0021549;cerebellum development;IEA|GO:0021555;midbrain-hindbrain boundary morphogenesis;IEA|GO:0021568;rhombomere 2 development;IEA|GO:0021794;thalamus development;IEA|GO:0021884;forebrain neuron development;IEA|GO:0021930;cerebellar granule cell precursor proliferation;IEA|GO:0030902;hindbrain development;IEA|GO:0030917;midbrain-hindbrain boundary development;IEA|GO:0035239;tube morphogenesis;IEA|GO:0042472;inner ear morphogenesis;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048483;autonomic nervous system development;IEA	GO:0005634;nucleus;IEA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IEA|GO:0000979;RNA polymerase II core promoter sequence-specific DNA binding;IEA|GO:0001190;transcriptional activator activity, RNA polymerase II transcription factor binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0043565;sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GBX2			https://www.ncbi.nlm.nih.gov/omim/?term=601135	http://www.informatics.jax.org/searchtool/Search.do?query=GBX2&submit=Quick%0D%12288ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GBX2
10_101.305_148.305	Chr10:78740262-120743937	1.191	GFRA1	ENSG00000151892	GDNF family receptor alpha 1	chr10:117816444-118032979	This gene encodes a member of the glial cell line-derived neurotrophic factor receptor (GDNFR) family of proteins. The encoded preproprotein is proteolytically processed to generate the mature receptor. Glial cell line-derived neurotrophic factor (GDNF) and neurturin (NTN) are two structurally related, potent neurotrophic factors that play key roles in the control of neuron survival and differentiation. This receptor is a glycosylphosphatidylinositol (GPI)-linked cell surface receptor for both GDNF and NTN, and mediates activation of the RET tyrosine kinase receptor. This gene is a candidate gene for Hirschsprung disease. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]	Hirschsprung Disease|Hydronephrosis|Vesico-Ureteral Reflux; Socioeconomic Factors; Alzheimer's disease ; Hyperparathyroidism, Secondary; thyroid cancer; hepatitis C; liver cancer; Leukocyte Count; Tobacco Use Disorder; Hirschsprung's disease	Homozygotes for targeted null mutations lack kidneys and enteric neurons resulting in neonatal lethality.	RET signaling	GO:0000165;MAPK cascade;TAS|GO:0007166;cell surface receptor signaling pathway;NAS|GO:0007399;nervous system development;IEA|GO:0007411;axon guidance;TAS|GO:0035860;glial cell-derived neurotrophic factor receptor signaling pathway;IEA|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0019898;extrinsic component of membrane;TAS|GO:0031225;anchored component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0004872;receptor activity;IEA|GO:0005088;Ras guanyl-nucleotide exchange factor activity;TAS|GO:0005102;receptor binding;TAS|GO:0016167;glial cell-derived neurotrophic factor receptor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/GFRA1	https://www.uniprot.org/uniprot/P56159		https://www.ncbi.nlm.nih.gov/omim/?term=601496	http://www.informatics.jax.org/searchtool/Search.do?query=GFRA1&submit=Quick%0D%9485ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GFRA1
22_4.194_23.194	Chr22:17733575-25291782	0.374	GGT1	ENSG00000100031	gamma-glutamyltransferase 1	chr22:24979718-25024972	The enzyme encoded by this gene is a type I gamma-glutamyltransferase that catalyzes the transfer of the glutamyl moiety of glutathione to a variety of amino acids and dipeptide acceptors. The enzyme is composed of a heavy chain and a light chain, which are derived from a single precursor protein. It is expressed in tissues involved in absorption and secretion and may contribute to the etiology of diabetes and other metabolic disorders. Multiple alternatively spliced variants have been identified. There are a number of related genes present on chromosomes 20 and 22, and putative pseudogenes for this gene on chromosomes 2, 13, and 22. [provided by RefSeq, Jan 2014]	pancreatic neoplasm|Pancreatic Neoplasms; liver enzymes; arsnic exposure; normal variation; plasma levels of liver enzymes; Sleep Apnea, Obstructive; protein quantitative trait loci; Alkaline Phosphatase; Fatty Liver|Metabolic Syndrome X; gamma-Glutamyltransferase; cognitive trait; Aging/ Telomere Length	Homozygous mutants may exhibit impaired growth, skeletal abnormalities, cataracts, lethargic behavior, premature greying, sterility, and shortened life span.	Aflatoxin activation and detoxification	GO:0002682;regulation of immune system process;ISS|GO:0006508;proteolysis;IEA|GO:0006520;cellular amino acid metabolic process;TAS|GO:0006536;glutamate metabolic process;IDA|GO:0006691;leukotriene metabolic process;TAS|GO:0006749;glutathione metabolic process;IEA|GO:0006750;glutathione biosynthetic process;TAS|GO:0006751;glutathione catabolic process;IDA|GO:0006805;xenobiotic metabolic process;TAS|GO:0007283;spermatogenesis;ISS|GO:0019344;cysteine biosynthetic process;ISS|GO:0019370;leukotriene biosynthetic process;IMP|GO:0031638;zymogen activation;IDA|GO:0050727;regulation of inflammatory response;ISS	GO:0005615;extracellular space;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031362;anchored component of external side of plasma membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0003840;gamma-glutamyltransferase activity;IDA|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0016787;hydrolase activity;IEA|GO:0036374;glutathione hydrolase activity;EXP	http://www.genecards.org/index.php?path=/Search/keyword/GGT1	https://www.uniprot.org/uniprot/P19440	https://hpo.jax.org/app/browse/search?q=GGT1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612346	http://www.informatics.jax.org/searchtool/Search.do?query=GGT1&submit=Quick%0D%2383ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GGT1
22_4.194_23.194	Chr22:17733575-25291782	0.374	GGT2	ENSG00000133475	gamma-glutamyltransferase 2	chr22:21562262-21581926	GGT2 belongs to the gamma-glutamyltransferase (GGT; EC 2.3.2.2) gene family. GGT is a membrane-bound extracellular enzyme that cleaves gamma-glutamyl peptide bonds in glutathione and other peptides and transfers the gamma-glutamyl moiety to acceptors. GGT is also key to glutathione homeostasis because it provides substrates for glutathione synthesis (Heisterkamp et al., 2008 [PubMed 18357469]).[supplied by OMIM, Oct 2008]		Homozygous mutants may exhibit impaired growth, skeletal abnormalities, cataracts, lethargic behavior, premature greying, sterility, and shortened life span.		GO:0006508;proteolysis;IEA|GO:0006749;glutathione metabolic process;TAS|GO:0006751;glutathione catabolic process;IEA|GO:0019370;leukotriene biosynthetic process;ISS	GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0031362;anchored component of external side of plasma membrane;TAS|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA	GO:0003840;gamma-glutamyltransferase activity;TAS|GO:0036374;glutathione hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GGT2	https://www.uniprot.org/uniprot/P36268		https://www.ncbi.nlm.nih.gov/omim/?term=137181	http://www.informatics.jax.org/searchtool/Search.do?query=GGT2&submit=Quick%0D%6841ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GGT2
22_4.194_23.194	Chr22:17733575-25291782	0.374	GGT5	ENSG00000099998	gamma-glutamyltransferase 5	chr22:24615622-24641110	This gene is a member of the gamma-glutamyl transpeptidase gene family, and some reports indicate that it is capable of cleaving the gamma-glutamyl moiety of glutathione. The protein encoded by this gene is synthesized as a single, catalytically-inactive polypeptide, that is processed post-transcriptionally to form a heavy and light subunit, with the catalytic activity contained within the small subunit. The encoded enzyme is able to convert leukotriene C4 to leukotriene D4, but appears to have distinct substrate specificity compared to gamma-glutamyl transpeptidase. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]		Homozygous mutants show an attenuation in neutrophil recruitment in an experimental model of peritonitis.	Aflatoxin activation and detoxification	GO:0006508;proteolysis;IEA|GO:0006520;cellular amino acid metabolic process;TAS|GO:0006691;leukotriene metabolic process;TAS|GO:0006749;glutathione metabolic process;TAS|GO:0006750;glutathione biosynthetic process;IEA|GO:0006751;glutathione catabolic process;IEA|GO:0006954;inflammatory response;IEA|GO:0019370;leukotriene biosynthetic process;IEA|GO:1901750;leukotriene D4 biosynthetic process;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS|GO:0031362;anchored component of external side of plasma membrane;TAS	GO:0003840;gamma-glutamyltransferase activity;TAS|GO:0008233;peptidase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0016787;hydrolase activity;IEA|GO:0036374;glutathione hydrolase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/GGT5	https://www.uniprot.org/uniprot/P36269		https://www.ncbi.nlm.nih.gov/omim/?term=137168	http://www.informatics.jax.org/searchtool/Search.do?query=GGT5&submit=Quick%0D%2372ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GGT5
22_4.194_23.194	Chr22:17733575-25291782	0.374	GGTLC2	ENSG00000100121	gamma-glutamyltransferase light chain 2	chr22:22988780-22990368	This gene encodes a protein related to enzymes that cleaves gamma-glutamyl peptide bonds in glutathione and other peptides. Unlike similar proteins, the encoded protein contains only the light chain portion and may not have catalytic activity. Alternative splicing results in multiple transcript variants. There are several related family members and related pseudogene for this gene situated in the same region of chromosome 22. [provided by RefSeq, Sep 2013]		 		GO:0006508;proteolysis;IEA|GO:0006749;glutathione metabolic process;NAS|GO:0006751;glutathione catabolic process;IEA|GO:0019370;leukotriene biosynthetic process;ISS	GO:0031362;anchored component of external side of plasma membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0003840;gamma-glutamyltransferase activity;TAS|GO:0036374;glutathione hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GGTLC2	https://www.uniprot.org/uniprot/Q14390		https://www.ncbi.nlm.nih.gov/omim/?term=612339	http://www.informatics.jax.org/searchtool/Search.do?query=GGTLC2&submit=Quick%0D%2411ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GGTLC2
22_4.194_23.194	Chr22:17733575-25291782	0.374	GGTLC3	ENSG00000274252		chr22:20366206-20368028	Gamma-glutamyltransferase-1 (GGT1; MIM 612346) is a membrane-bound extracellular enzyme that cleaves gamma-glutamyl peptide bonds in glutathione and other peptides and transfers the gamma-glutamyl moiety to acceptors. Autocatalytic cleavage of the GGT1 precursor polypeptide produces a heavy chain and a light chain that associate with each other to form the functional enzyme. Light chain-only GGTs, such as GGTLC3, contain a region corresponding to the GGT1 light chain, but they lack the membrane-anchoring heavy chain region (Heisterkamp et al., 2008 [PubMed 18357469]).[supplied by OMIM, Oct 2008]		 		GO:0006508;proteolysis;IEA|GO:0006749;glutathione metabolic process;TAS|GO:0006751;glutathione catabolic process;IEA|GO:0019370;leukotriene biosynthetic process;ISS	GO:0031362;anchored component of external side of plasma membrane;TAS|GO:0070062;extracellular exosome;IDA	GO:0003840;gamma-glutamyltransferase activity;TAS|GO:0036374;glutathione hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GGTLC3				http://www.informatics.jax.org/searchtool/Search.do?query=GGTLC3&submit=Quick%0D%21080ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GGTLC3
10_101.305_148.305	Chr10:78740262-120743937	1.191	GHITM	ENSG00000165678	growth hormone inducible transmembrane protein	chr10:85899196-85913001		Alzheimer's disease ; Acquired Immunodeficiency Syndrome|Disease Progression; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary	 		GO:0006915;apoptotic process;IEA|GO:0008150;biological_process;ND	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/GHITM				http://www.informatics.jax.org/searchtool/Search.do?query=GHITM&submit=Quick%0D%11598ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GHITM
10_101.305_148.305	Chr10:78740262-120743937	1.191	GLUD1	ENSG00000148672	glutamate dehydrogenase 1	chr10:88810243-88854623	This gene encodes glutamate dehydrogenase, which is a mitochondrial matrix enzyme that catalyzes the oxidative deamination of glutamate to alpha-ketoglutarate and ammonia. This enzyme has an important role in regulating amino acid-induced insulin secretion. It is allosterically activated by ADP and inhibited by GTP and ATP. Activating mutations in this gene are a common cause of congenital hyperinsulinism. Alternative splicing of this gene results in multiple transcript variants. The related glutamate dehydrogenase 2 gene on the human X-chromosome originated from this gene via retrotransposition and encodes a soluble form of glutamate dehydrogenase. Related pseudogenes have been identified on chromosomes 10, 18 and X. [provided by RefSeq, Jan 2016]	Hyperinsulinism|Hypoglycemia|Persistent Hyperinsulinemia Hypoglycemia of Infancy; Alzheimer's disease ; Alcoholism; Acquired Immunodeficiency Syndrome|Disease Progression; Weight Gain; Schizophrenia	Mice homozygous for a conditionally allele activated in beta cells exhibit reduced glucose-stimulated insulin secretion and disorganization of pancreatic islets.	Amino acid synthesis and interconversion (transamination)	GO:0006520;cellular amino acid metabolic process;IEA|GO:0006537;glutamate biosynthetic process;IDA|GO:0006538;glutamate catabolic process;IDA|GO:0006541;glutamine metabolic process;ISS|GO:0007005;mitochondrion organization;TAS|GO:0008652;cellular amino acid biosynthetic process;TAS|GO:0021762;substantia nigra development;IEP|GO:0032024;positive regulation of insulin secretion;IMP|GO:0055114;oxidation-reduction process;IEA|GO:0072350;tricarboxylic acid metabolic process;ISS	GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;TAS	GO:0000166;nucleotide binding;IEA|GO:0004352;glutamate dehydrogenase (NAD+) activity;IDA|GO:0004353;glutamate dehydrogenase [NAD(P)+] activity;EXP|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0005525;GTP binding;IDA|GO:0016491;oxidoreductase activity;IEA|GO:0042802;identical protein binding;TAS|GO:0043531;ADP binding;IDA|GO:0070403;NAD+ binding;IDA|GO:0070728;leucine binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/GLUD1	https://www.uniprot.org/uniprot/P00367	https://hpo.jax.org/app/browse/search?q=GLUD1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=138130	http://www.informatics.jax.org/searchtool/Search.do?query=GLUD1&submit=Quick%0D%9144ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GLUD1
22_4.194_23.194	Chr22:17733575-25291782	0.374	GNAZ	ENSG00000128266	G protein subunit alpha z	chr22:23412540-23467224	The protein encoded by this gene is a member of a G protein subfamily that mediates signal transduction in pertussis toxin-insensitive systms. This encoded protein may play a role in maintaining the ionic balance of perilymphatic and endolymphatic cochlear fluids. [provided by RefSeq, Jul 2008]	height	Mice homozygous for a knock-out allele exhibit hypertolerance to morphine. Mice homozygous for a reporter allele exhibit impaired platelet aggregation, increased resistance to fatal thromboembolism, reduced morphine-elicited antinociception, and altered behavioral responses to addictive substances.	Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding	GO:0006457;protein folding;TAS|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007188;adenylate cyclase-modulating G-protein coupled receptor signaling pathway;IEA|GO:0007193;adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway;IEA	GO:0005635;nuclear envelope;TAS|GO:0005783;endoplasmic reticulum;TAS|GO:0005829;cytosol;IEA|GO:0005834;heterotrimeric G-protein complex;IBA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0030425;dendrite;IEA|GO:0044297;cell body;IEA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0001664;G-protein coupled receptor binding;IBA|GO:0003924;GTPase activity;TAS|GO:0004871;signal transducer activity;IEA|GO:0005057;signal transducer activity, downstream of receptor;TAS|GO:0005525;GTP binding;TAS|GO:0019001;guanyl nucleotide binding;IEA|GO:0031683;G-protein beta/gamma-subunit complex binding;IBA|GO:0031821;G-protein coupled serotonin receptor binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GNAZ	https://www.uniprot.org/uniprot/P19086		https://www.ncbi.nlm.nih.gov/omim/?term=139160	http://www.informatics.jax.org/searchtool/Search.do?query=GNAZ&submit=Quick%0D%6113ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GNAZ
22_4.194_23.194	Chr22:17733575-25291782	0.374	GNB1L	ENSG00000185838	G protein subunit beta 1 like	chr22:19770747-19842462	This gene encodes a G-protein beta-subunit-like polypeptide which is a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 6 WD repeats and is highly expressed in the heart. The gene maps to the region on chromosome 22q11, which is deleted in DiGeorge syndrome, trisomic in derivative 22 syndrome and tetrasomic in cat-eye syndrome. Therefore, this gene may contribute to the etiology of those disorders. Transcripts from this gene share exons with some transcripts from the C22orf29 gene. [provided by RefSeq, Jul 2008]	Forced Expiratory Volume; Attention Deficit Disorder with Hyperactivity; Erythrocyte Count; Schizophrenia; schizophrenia	Mice heterozygous for a gene trapped allele exhibit significantly reduced prepulse inhibition.  Homozygotes die during early gestation.		GO:0007186;G-protein coupled receptor signaling pathway;NAS|GO:0035176;social behavior;IEA|GO:0035556;intracellular signal transduction;NAS	GO:0005737;cytoplasm;IEA|GO:0009898;cytoplasmic side of plasma membrane;NAS	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/GNB1L			https://www.ncbi.nlm.nih.gov/omim/?term=610778	http://www.informatics.jax.org/searchtool/Search.do?query=GNB1L&submit=Quick%0D%15501ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GNB1L
10_101.305_148.305	Chr10:78740262-120743937	1.191	GOLGA7B	ENSG00000155265	golgin A7 family member B	chr10:99627889-99631294			 		GO:0006612;protein targeting to membrane;IBA|GO:0018230;peptidyl-L-cysteine S-palmitoylation;IBA|GO:0072659;protein localization to plasma membrane;IBA	GO:0000139;Golgi membrane;IEA|GO:0002178;palmitoyltransferase complex;IBA|GO:0005794;Golgi apparatus;IEA|GO:0016020;membrane;IEA	GO:0019706;protein-cysteine S-palmitoyltransferase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/GOLGA7B	https://www.uniprot.org/uniprot/Q2TAP0		https://www.ncbi.nlm.nih.gov/omim/?term=614189	http://www.informatics.jax.org/searchtool/Search.do?query=GOLGA7B&submit=Quick%0D%9853ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GOLGA7B
10_101.305_148.305	Chr10:78740262-120743937	1.191	GOT1	ENSG00000120053	glutamic-oxaloacetic transaminase 1	chr10:101156627-101190381	Glutamic-oxaloacetic transaminase is a pyridoxal phosphate-dependent enzyme which exists in cytoplasmic and mitochondrial forms, GOT1 and GOT2, respectively.  GOT plays a role in amino acid metabolism and the urea and tricarboxylic acid cycles. The two enzymes are homodimeric and show close homology. [provided by RefSeq, Jul 2008]	Heart Failure; Colitis, Ulcerative; Alcoholism; Crohn Disease	 	Amino acid synthesis and interconversion (transamination)	GO:0006094;gluconeogenesis;TAS|GO:0006103;2-oxoglutarate metabolic process;ISS|GO:0006107;oxaloacetate metabolic process;IEA|GO:0006114;glycerol biosynthetic process;ISS|GO:0006520;cellular amino acid metabolic process;IEA|GO:0006531;aspartate metabolic process;ISS|GO:0006532;aspartate biosynthetic process;IBA|GO:0006533;aspartate catabolic process;IDA|GO:0006536;glutamate metabolic process;ISS|GO:0007219;Notch signaling pathway;IEA|GO:0008652;cellular amino acid biosynthetic process;TAS|GO:0009058;biosynthetic process;IEA|GO:0019550;glutamate catabolic process to aspartate;IEA|GO:0019551;glutamate catabolic process to 2-oxoglutarate;IEA|GO:0032869;cellular response to insulin stimulus;IEP|GO:0043648;dicarboxylic acid metabolic process;IEA|GO:0051384;response to glucocorticoid;IEP|GO:0055089;fatty acid homeostasis;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005764;lysosome;IEA|GO:0005829;cytosol;TAS|GO:0043679;axon terminus;IEA|GO:0070062;extracellular exosome;IDA	GO:0003824;catalytic activity;IEA|GO:0004069;L-aspartate:2-oxoglutarate aminotransferase activity;TAS|GO:0004609;phosphatidylserine decarboxylase activity;IEA|GO:0008483;transaminase activity;IEA|GO:0016740;transferase activity;IEA|GO:0030170;pyridoxal phosphate binding;IEA|GO:0031406;carboxylic acid binding;IEA|GO:0047801;L-cysteine:2-oxoglutarate aminotransferase activity;IEA|GO:0080130;L-phenylalanine:2-oxoglutarate aminotransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GOT1	https://www.uniprot.org/uniprot/P17174		https://www.ncbi.nlm.nih.gov/omim/?term=138180	http://www.informatics.jax.org/searchtool/Search.do?query=GOT1&submit=Quick%0D%5156ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GOT1
22_4.194_23.194	Chr22:17733575-25291782	0.374	GP1BB	ENSG00000203618	glycoprotein Ib platelet beta subunit	chr22:19710468-19712294	Platelet glycoprotein Ib (GPIb) is a heterodimeric transmembrane protein consisting of a disulfide-linked 140 kD alpha chain and 22 kD beta chain. It is part of the GPIb-V-IX system that constitutes the receptor for von Willebrand factor (VWF), and mediates platelet adhesion in the arterial circulation. GPIb alpha chain provides the VWF binding site, and GPIb beta contributes to surface expression of the receptor and participates in transmembrane signaling through phosphorylation of its intracellular domain. Mutations in the GPIb beta subunit have been associated with Bernard-Soulier syndrome, velocardiofacial syndrome and giant platelet disorder. The 206 amino acid precursor of GPIb beta is synthesized from a 1.0 kb mRNA expressed in plateletes and megakaryocytes. A 411 amino acid protein arising from a longer, unspliced transcript in endothelial cells has been described; however, the authenticity of this product has been questioned. Yet another less abundant GPIb beta mRNA species of 3.5 kb, expressed in nonhematopoietic tissues such as endothelium, brain and heart, was shown to result from inefficient usage of a non-consensus polyA signal in the neighboring upstream gene (SEPT5, septin 5). In the absence of polyadenylation from its own imperfect site, the SEPT5 gene produces read-through transcripts that use the consensus polyA signal of this gene. [provided by RefSeq, Dec 2010]	thrombocytopenia; Bernard-Soulier Syndrome; normal variation	Mice homozygous for disruptions in this gene have a significantly smaller than normal number of abnormally large platelets.  They also display a severe bleeding phenotype.	Platelet Aggregation (Plug Formation)	GO:0007155;cell adhesion;IEA|GO:0007166;cell surface receptor signaling pathway;NAS|GO:0007596;blood coagulation;TAS|GO:0007597;blood coagulation, intrinsic pathway;TAS|GO:0007599;hemostasis;IEA|GO:0030168;platelet activation;TAS	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;NAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004888;transmembrane signaling receptor activity;NAS|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/GP1BB		https://hpo.jax.org/app/browse/search?q=GP1BB&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=138720	http://www.informatics.jax.org/searchtool/Search.do?query=GP1BB&submit=Quick%0D%17111ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GP1BB
10_101.305_148.305	Chr10:78740262-120743937	1.191	GPAM	ENSG00000119927	glycerol-3-phosphate acyltransferase, mitochondrial	chr10:113909624-113975135	This gene encodes a mitochondrial enzyme which prefers saturated fatty acids as its substrate for the synthesis of glycerolipids. This metabolic pathway's first step is catalyzed by the encoded enzyme. Two forms for this enzyme exist, one in the mitochondria and one in the endoplasmic reticulum. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]	Diabetes Mellitus, Type 2|; Alzheimer's disease ; Acquired Immunodeficiency Syndrome|Disease Progression; Cholesterol, LDL; esophageal adenocarcinoma; plasma HDL cholesterol (HDL-C) levels; Cholesterol	Homozygous mutant mice weighed less than controls and showed reduced triacylglycerol levels in the liver and plasma. The glycerolipid fatty acid composition is also disrupted in mutant mice.	RUNX1 regulates estrogen receptor mediated transcription	GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006637;acyl-CoA metabolic process;IEA|GO:0006641;triglyceride metabolic process;IEA|GO:0006650;glycerophospholipid metabolic process;IEA|GO:0006654;phosphatidic acid biosynthetic process;TAS|GO:0008152;metabolic process;IEA|GO:0008654;phospholipid biosynthetic process;IEA|GO:0009749;response to glucose;IEA|GO:0016024;CDP-diacylglycerol biosynthetic process;IEA|GO:0019432;triglyceride biosynthetic process;TAS|GO:0040018;positive regulation of multicellular organism growth;IEA|GO:0042104;positive regulation of activated T cell proliferation;IEA|GO:0044255;cellular lipid metabolic process;IEA|GO:0045540;regulation of cholesterol biosynthetic process;TAS|GO:0050707;regulation of cytokine secretion;IEA|GO:0051607;defense response to virus;IEA|GO:0055089;fatty acid homeostasis;IEA|GO:0055091;phospholipid homeostasis;IEA|GO:0070236;negative regulation of activation-induced cell death of T cells;IEA|GO:0070970;interleukin-2 secretion;IEA	GO:0005739;mitochondrion;IEA|GO:0005741;mitochondrial outer membrane;TAS|GO:0005743;mitochondrial inner membrane;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031966;mitochondrial membrane;IEA	GO:0004366;glycerol-3-phosphate O-acyltransferase activity;EXP|GO:0008374;O-acyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GPAM	https://www.uniprot.org/uniprot/Q9HCL2		https://www.ncbi.nlm.nih.gov/omim/?term=602395	http://www.informatics.jax.org/searchtool/Search.do?query=GPAM&submit=Quick%0D%5139ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPAM
2_252.744_266.744	Chr2:235528138-241561721	0.223	GPC1	ENSG00000063660	glypican 1	chr2:241375088-241407493	Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage.  These proteins may play a role in the control of cell division and growth regulation. [provided by RefSeq, Jul 2008]	breast cancer ; schizophrenia; Brain imaging in schizophrenia (interaction)	Homozygous mutant mice exhibit a reduced brain size with mild cerebellar patterning defects, but are otherwise viable and fertile.	Retinoid metabolism and transport	GO:0001523;retinoid metabolic process;TAS|GO:0006024;glycosaminoglycan biosynthetic process;TAS|GO:0006027;glycosaminoglycan catabolic process;TAS|GO:0007411;axon guidance;TAS|GO:0014037;Schwann cell differentiation;ISS|GO:0030200;heparan sulfate proteoglycan catabolic process;IDA|GO:0030203;glycosaminoglycan metabolic process;TAS|GO:0032288;myelin assembly;ISS|GO:0040037;negative regulation of fibroblast growth factor receptor signaling pathway;IEA|GO:0050900;leukocyte migration;TAS|GO:2001016;positive regulation of skeletal muscle cell differentiation;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;TAS|GO:0005654;nucleoplasm;IDA|GO:0005768;endosome;IEA|GO:0005796;Golgi lumen;TAS|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA|GO:0043202;lysosomal lumen;TAS|GO:0045121;membrane raft;IEA|GO:0070062;extracellular exosome;IDA	GO:0005507;copper ion binding;IDA|GO:0017134;fibroblast growth factor binding;IEA|GO:0043236;laminin binding;IEA|GO:0043395;heparan sulfate proteoglycan binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GPC1	https://www.uniprot.org/uniprot/P35052		https://www.ncbi.nlm.nih.gov/omim/?term=600395	http://www.informatics.jax.org/searchtool/Search.do?query=GPC1&submit=Quick%0D%1111ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPC1
2_252.744_266.744	Chr2:235528138-241561721	0.223	GPR35	ENSG00000178623	G protein-coupled receptor 35	chr2:241544848-241570676		Erythrocyte Count; Blood Pressure Determination; Colitis, Ulcerative; Calcinosis	 	Class A/1 (Rhodopsin-like receptors)	GO:0007010;cytoskeleton organization;IEA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007204;positive regulation of cytosolic calcium ion concentration;IMP|GO:0035025;positive regulation of Rho protein signal transduction;IBA|GO:0051482;positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway;IBA|GO:0070098;chemokine-mediated signaling pathway;IMP|GO:1901386;negative regulation of voltage-gated calcium channel activity;IMP|GO:1904456;negative regulation of neuronal action potential;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;TAS|GO:0016494;C-X-C chemokine receptor activity;IMP	http://www.genecards.org/index.php?path=/Search/keyword/GPR35		https://hpo.jax.org/app/browse/search?q=GPR35&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602646	http://www.informatics.jax.org/searchtool/Search.do?query=GPR35&submit=Quick%0D%14209ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GPR35
10_101.305_148.305	Chr10:78740262-120743937	1.191	GRID1	ENSG00000182771	glutamate ionotropic receptor delta type subunit 1	chr10:87359312-88126250	This gene encodes a subunit of glutamate receptor channels. These channels mediate most of the fast excitatory synaptic transmission in the central nervous system and play key roles in synaptic plasticity.[provided by RefSeq, Jan 2009]	schizophrenia; schizoaffective disorder; bipolar disorder; Tobacco Use Disorder; Body Weight; Aorta; Cardiac structure and function; Waist-Hip Ratio; Triglycerides; Walking; Cardiovascular Diseases|Ventricular Dysfunction, Left; Cholesterol, HDL; schizophrenia; Hemoglobin A, Glycosylated	Homozygotes for a targeted null mutation display a significant high-frequency hearing loss, associated with reductions of both cochlear outer hair cell function and endolymphatic potential, as well as increased vulnerability to acoustic injury.		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0035176;social behavior;IEA|GO:0035235;ionotropic glutamate receptor signaling pathway;IEA|GO:0060079;excitatory postsynaptic potential;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0004872;receptor activity;IEA|GO:0004970;ionotropic glutamate receptor activity;IEA|GO:0005216;ion channel activity;IEA|GO:0005234;extracellular-glutamate-gated ion channel activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GRID1			https://www.ncbi.nlm.nih.gov/omim/?term=610659	http://www.informatics.jax.org/searchtool/Search.do?query=GRID1&submit=Quick%0D%14852ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GRID1
22_4.194_23.194	Chr22:17733575-25291782	0.374	GSC2	ENSG00000063515	goosecoid homeobox 2	chr22:19136089-19137796	Goosecoidlike (GSCL), a homeodomain-containing gene, resides in the critical region for VCFS/DGS on 22q11. Velocardiofacial syndrome (VCFS) is a developmental disorder characterized by conotruncal heart defects, craniofacial anomalies, and learning disabilities. VCFS is phenotypically related to DiGeorge syndrome (DGS) and both syndromes are associated with hemizygous 22q11 deletions. Because many of the tissues and structures affected in VCFS/DGS derive from the pharyngeal arches of the developing embryo, it is believed that haploinsufficiency of a gene involved in embryonic development may be responsible for its etiology. The gene is expressed in a limited number of adult tissues, as well as in early human development. [provided by RefSeq, Jul 2008]	Metabolism	Mice homozygous for either one of two independently generated knock-out alleles are viable and fertile with no detectable anatomical or histological abnormalities.		GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0009653;anatomical structure morphogenesis;TAS	GO:0005634;nucleus;IEA	GO:0003677;DNA binding;TAS|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0043565;sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GSC2	https://www.uniprot.org/uniprot/O15499		https://www.ncbi.nlm.nih.gov/omim/?term=601845	http://www.informatics.jax.org/searchtool/Search.do?query=GSC2&submit=Quick%0D%1108ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GSC2
10_101.305_148.305	Chr10:78740262-120743937	1.191	GSTO1	ENSG00000148834	glutathione S-transferase omega 1	chr10:105995114-106027217	The protein encoded by this gene is an omega class glutathione S-transferase (GST) with glutathione-dependent thiol transferase and dehydroascorbate reductase activities. GSTs are involved in the metabolism of xenobiotics and carcinogens. The encoded protein acts as a homodimer and is found in the cytoplasm. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]	Arsenic Poisoning; DNA Damage; cognitive trait; null; Skin Diseases; breast cancer ; Breast Neoplasms|Mammary Neoplasms; Carcinoma, Hepatocellular|Liver Neoplasms; Aging/ Telomere Length; Brain Ischemia|; stroke; dementia; lung cancer; arsenic metabolism; Amphetamine-Related Disorders|Recurrence; Huntington's disease; Parkinson's disease; normal variation; Bladder Neoplasm|Kidney Neoplasms|Ureteral Neoplasms|Urinary Bladder Neoplasms; Alzheimer's Disease; Amyotrophic Lateral Sclerosis|; prostate cancer; Carcinoma|Urologic Neoplasms; Arsenic Poisoning|Cardiovascular Diseases; asthma; thyroid cancer; Carotid Artery Diseases|Hyperlipoproteinemia Type II; breast cancer; colorectal cancer; liver cancer; Intracranial Aneurysm; oxidative stress ; schizophrenia; skin lesions, arsenic-induced; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Type 2 Diabetes| edema | rosiglitazone; Chronic renal failure|Kidney Failure, Chronic; atherosclerosis; Alzheimer's disease ; chronic obstructive pulmonary disease; longevity	Mice homozygous for a mutant allele do not display abnormal arsenate metabolism following acute arsenate exposure.	Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation	GO:0008152;metabolic process;IEA|GO:0010880;regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;IDA|GO:0010881;regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion;IC|GO:0014810;positive regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion;IC|GO:0019852;L-ascorbic acid metabolic process;IDA|GO:0032259;methylation;TAS|GO:0042178;xenobiotic catabolic process;IDA|GO:0055114;oxidation-reduction process;IEA|GO:0060315;negative regulation of ryanodine-sensitive calcium-release channel activity;IDA|GO:0060316;positive regulation of ryanodine-sensitive calcium-release channel activity;IDA|GO:0071243;cellular response to arsenic-containing substance;IDA|GO:0098869;cellular oxidant detoxification;IEA|GO:1901687;glutathione derivative biosynthetic process;TAS	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0004364;glutathione transferase activity;TAS|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IDA|GO:0016740;transferase activity;IEA|GO:0045174;glutathione dehydrogenase (ascorbate) activity;IDA|GO:0050610;methylarsonate reductase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/GSTO1	https://www.uniprot.org/uniprot/P78417		https://www.ncbi.nlm.nih.gov/omim/?term=605482	http://www.informatics.jax.org/searchtool/Search.do?query=GSTO1&submit=Quick%0D%9165ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GSTO1
10_101.305_148.305	Chr10:78740262-120743937	1.191	GSTO2	ENSG00000065621	glutathione S-transferase omega 2	chr10:106028631-106064703	The protein encoded by this gene is an omega class glutathione S-transferase (GST). GSTs are involved in the metabolism of xenobiotics and carcinogens. Four transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2010]	Arsenic Poisoning|Cardiovascular Diseases; arsenic metabolism; breast cancer; colorectal cancer; liver cancer; Skin Diseases; chronic obstructive pulmonary disease; Parkinsons disease; Carcinoma|Urologic Neoplasms; skin cancer, non-melanoma; Breast Neoplasms|Mammary Neoplasms; Carcinoma, Hepatocellular|Liver Neoplasms; ovarian cancer; cognitive trait; longevity; Parkinson's disease; lung cancer; Tobacco Use Disorder; Alzheimer's disease ; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Huntington's disease; normal variation; Bladder Neoplasm|Kidney Neoplasms|Ureteral Neoplasms|Urinary Bladder Neoplasms; Alzheimer's Disease; Stomach Neoplasms; Type 2 Diabetes| edema | rosiglitazone; Arsenic Poisoning; Respiratory Function Tests; asthma; breast cancer; Aging/ Telomere Length; Amyotrophic Lateral Sclerosis|	 	Vitamin C (ascorbate) metabolism	GO:0006805;xenobiotic metabolic process;IDA|GO:0008152;metabolic process;IEA|GO:0019852;L-ascorbic acid metabolic process;TAS|GO:0055114;oxidation-reduction process;IDA|GO:0071243;cellular response to arsenic-containing substance;IDA|GO:0098869;cellular oxidant detoxification;IEA|GO:1901687;glutathione derivative biosynthetic process;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0004364;glutathione transferase activity;TAS|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IDA|GO:0016740;transferase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0045174;glutathione dehydrogenase (ascorbate) activity;TAS|GO:0050610;methylarsonate reductase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GSTO2	https://www.uniprot.org/uniprot/Q9H4Y5		https://www.ncbi.nlm.nih.gov/omim/?term=612314	http://www.informatics.jax.org/searchtool/Search.do?query=GSTO2&submit=Quick%0D%1188ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GSTO2
22_4.194_23.194	Chr22:17733575-25291782	0.374	GSTT1	ENSG00000277656	glutathione S-transferase theta 1	chr22:24376133-24384680	The protein encoded by this gene, glutathione S-transferase (GST) theta 1 (GSTT1), is a member of a superfamily of proteins that catalyze the conjugation of reduced glutathione to a variety of electrophilic and hydrophobic compounds. Human GSTs can be divided into five main classes: alpha, mu, pi, theta, and zeta. The theta class includes GSTT1, GSTT2, and GSTT2B. GSTT1 and GSTT2/GSTT2B share 55% amino acid sequence identity and may play a role in human carcinogenesis. The GSTT1 gene is haplotype-specific and is absent from 38% of the population. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2015]	ovarian cancer ; Cerebellar Neoplasms|Medulloblastoma; Cleft Lip|Cleft Palate|; lead and mercury metabolism; idiopathic infertility; Adenoma|Pituitary Neoplasms; Hepatitis C, Chronic; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|melanoma|Skin Basal Cell Carcinoma|Skin Neoplasms|Squamous cell carcinoma; Brain Neoplasms|Glioma; Esophagitis, Peptic|Helicobacter Infections|Peptic Esophagitis; Brain Ischemia|Cerebrovascular Disorders; Drug-Induced Liver Injury|Epilepsy|Hepatitis, Toxic; Myocardial Infarction; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Neoplasms, Second Primary; cognitive trait; papillary thyroid cancer; brain cancer; hepatic GSTA1/GSTA2 expression; DNA Damage|; Carcinoma, Hepatocellular|Liver Neoplasms; Epilepsy; Chromosome Aberrations|Neoplasms; Carcinoma, Squamous Cell|Mouth Neoplasms; Down's syndrome; tobacco consumption; Fetal Growth Retardation|Intrauterine growth retardation|Pregnancy Complications; vinyl chloride ; Chronic Kidney Insufficiency|Diabetic Nephropathies|Diabetic Nephropathy|Renal Insufficiency, Chronic; Dermatitis, Atopic|Eczema allergic; Graft vs Host Disease|Recurrence; Testicular Neoplasms; cytogenetic studies; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; DNA Damage|Neoplasms|Skin Diseases; immunologic markers among vulcanization workers ; Chorioamnionitis|Premature Birth; Anemia, Aplastic|Aplastic anemia|Leukemia, Myeloid|Myelodysplastic Syndromes|Myeloid Leukemia|Preleukemia; Fanconi Anemia|Fanconi's Anemia|Hematologic Diseases; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Laryngeal neoplasm|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms|Squamous cell carcinoma; Lymphoma, Large B-Cell, Diffuse; Carcinoma, Squamous Cell|Chromosome Deletion|Head and Neck Neoplasms|Squamous cell carcinoma; Adenoma|Carcinoma|Colorectal Neoplasms; breast cancer; head and neck cancer; benzene toxicity; Ovarian Failure, Premature; Cystic Fibrosis|Pseudomonas Infections; POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome; Leukemia, Lymphocytic, Chronic|Leukemia, Lymphocytic, Chronic, B-Cell; Carcinoma, Squamous Cell|Mouth Neoplasms|Squamous cell carcinoma; Lymphoma, Non-Hodgkin|Lymphoma, Non-Hodgkin's; Cleft Lip|Cleft Palate; Type 2 diabetes; methylmercury retention; non-allergic nasal polyposis; arsnic exposure; Arthritis, Rheumatoid; Arteriosclerosis|DNA Damage; Gastritis|Stomach Neoplasms; Disease Susceptibility|Stomach Neoplasms; Carcinoma, Squamous Cell|Esophageal Neoplasms|Oesophageal neoplasm|Squamous cell carcinoma|Stomach Neoplasms; Inflammation|Premature Birth; Graft vs Host Disease|Hemoglobinopathies; Kidney Neoplasms; soft tissue sarcoma; HIV Infections; Prostatic Hyperplasia; Upper aerodigestive tract cancers; Asthma|; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|; Diabetes mellitus type II|Diabetes Mellitus, Type 2; hearing impairment|Hearing Loss|Neoplasms, Testis|Testicular Neoplasms; Birth Weight|Prenatal Exposure Delayed Effects; Hypersensitivity|Inflammation|Respiratory Hypersensitivity; Birth Weight; Infertility, Male|Varicocele; Infection|Precursor Cell Lymphoblastic Leukemia-Lymphoma; acrylamide; Adenoma, Oxyphilic|thyroid neoplasm|Thyroid Neoplasms; Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma|Recurrence; pancreatitis, chronic; Pulmonary Disease, Chronic Obstructive; Chromosome Aberrations|DNA Damage; Tuberculosis; serum lipid parameters; Prostatic Hyperplasia|Prostatic Neoplasms; encephalopathy, solvent-induced; leukemia/lymphoma, T-Cell; bone density; Leukemia, Myeloid, Acute; Leukoplakia|Mouth Neoplasms; Cervical Neoplasm|Papillomavirus Infections|Uterine Cervical Neoplasms; Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Postoperative Complications|Skin Basal Cell Carcinoma|Skin Neoplasms|Squamous cell carcinoma; Aneuploidy|Chromosome Aberrations|Chromosome abnormality|Trisomy; Adenomatous Polyposis Coli|Duodenal Neoplasms; Diabetes mellitus; Glaucoma, Open-Angle; Alcoholism|Head and Neck Neoplasms; Prostatic Neoplasms; Leukemia; Colonic Neoplasms; hearing impairment|Hearing Loss; Fatty Liver, Alcoholic; null; organophosphate toxicity; colorectal cancer stomach cancer; Migraine Disorders; Alcoholism|Liver Cirrhosis, Alcoholic|Pancreatitis, Alcoholic; beta Thalassemia|beta-Thalassemia|Cardiomyopathies|Iron Overload; Alcohol-Related Disorders|Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma|Tobacco Use Disorder; preterm delivery; 1-hydroxypyrene, urinary; DNA adducts, aromatic; mutagenicity, urinary; patent ductus arteriosus; Pre-Eclampsia; Laryngeal Neoplasms; Asbestosis; Carcinoma, Squamous Cell|Cervical Neoplasm|Papillomavirus Infections|Squamous cell carcinoma|Uterine Cervical Neoplasms; bladder cancer; Peripheral Nervous System Diseases; Fatty Liver|; Obstetric Labor, Premature; Respiration Disorders; Neuroblastoma; Drug Toxicity|Hematologic Neoplasms|Radiation Injuries; Diabetic Nephropathies|Diabetic Nephropathy; multiple sclerosis; Cell Transformation, Neoplastic|DNA Damage|Lung Neoplasms|Neoplasm of lung ; Cleft Lip|Cleft Palate|Prenatal Exposure Delayed Effects; depression; lung function; pancreatitis; mutagen sensitivity; 2-thiothiazolidine-4-carboxylic acid levels; Carcinoma, Squamous Cell|Mouth Neoplasms|Oropharyngeal Neoplasms; Brill-Symmers disease|Lymphoma, Follicular; Raynaud Disease; Micronuclei, Chromosome-Defective; Neoplasms, Prostatic|Prostatic Hyperplasia|Prostatic Neoplasms; Macular Degeneration; preeclampsia; sex hormones; liver cancer; Elers-Danlose syndrome; cognitive ability; Carcinoma, Hepatocellular|Hepatitis B|LCC - Liver cell carcinoma|Liver neoplasms; Neoplasm Metastasis|osteosarcoma; birth weight; styrene toxicity; Drug-Induced Liver Injury|Graft vs Host Disease|Inflammation|Leukemia|Liver Diseases; Eye Diseases|Hypersensitivity|Respiratory Tract Diseases; Cleft Lip|Cleft Palate|Congenital Abnormalities; Carcinoma, Hepatocellular|Hepatitis B, Chronic|Hepatitis C, Chronic|Liver Neoplasms; Ascorbic Acid Deficiency; thryoid nodules|Thyroid Nodule; Helicobacter Infections|Stomach Neoplasms; Disease; cancer susceptibility; Presbycusis| Hearing Loss; Esophageal Atresia; Coronary Artery Disease|Disease Susceptibility; skin cancer, non-melanoma; leukemia, childhood acute lymphoblastic; miscarriage; Carcinoma, Squamous Cell|Mouth Neoplasms|Neoplasm Metastasis; Drug-Induced Liver Injury|Liver Diseases; diabetes, type 1 ; Germinoma|Testicular Neoplasms; Dermatitis, Atopic|; Lymphoma, B-Cell, Marginal Zone|mucosa-associated lymphoid tissue lymphoma|Stomach Neoplasms; Behcet Syndrome; leukemia; pharmacogenes; Jaundice, Neonatal; Lung Neoplasms|Neoplasm of lung ; Emphysema|Pulmonary Disease, Chronic Obstructive; Leukemia, Lymphocytic, Acute, L1|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Bladder Cancer; DNA damage, biomarkers of; Proteinuria; Coronary Disease; Rhinitis, Allergic, Perennial; Dysmenorrhea; Adenoma|Colorectal Neoplasms; Asphyxia Neonatorum; Vitiligo; Abortion, Habitual; Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma, T-Cell; Chronic B-Cell Leukemias|Leukemia, Lymphocytic, Chronic, B-Cell; leukemia; leukemia, myelodysplastic (TRLIMDS); Hodgkin's disease; pulmonary fibrosis; Coronary Artery Disease|; formaldehyde; Malaria, Falciparum; Hearing Disorders|Hearing Loss, High-Frequency|Hearing problem; Parkinson's disease; manganism, susceptibility to occupational chronic; coke-oven toxicity; childhood brain tumors | residential insecticide exposure; acute lymphocytic leukemia|Precursor Cell Lymphoblastic Leukemia-Lymphoma|Recurrence; Amphetamine-Related Disorders|Recurrence; Multiple Chemical Sensitivity; Abnormalities, Drug-Induced|Cleft Lip|Cleft Palate; chronic toxic encephalopathy; limb deficiency defects; lung cancer ; Carcinoma, Hepatocellular|LCC - Liver cell carcinoma|Liver neoplasms; Laryngeal neoplasm|Laryngeal Neoplasms; Astrocytoma|Brain Neoplasms|Ependymoma|Glioma|Neoplasm Metastasis|oligodendroglioma; Drug-Induced Liver Injury; Cell Transformation, Neoplastic|Chronic ulcerative colitis|Colitis, Ulcerative; beta Thalassemia|beta-Thalassemia|Hepatic Veno-Occlusive Disease; Lupus Erythematosus, Systemic|Sjogren's Syndrome|Systemic lupus erythematosus; Chronic renal failure|Kidney Failure, Chronic; Carcinoma|Oropharyngeal Neoplasms|Tumor of Oropharynx; esophageal cancer; Myelodysplastic Syndromes; Hepatitis B, Chronic|Liver Cirrhosis; Hepatic Veno-Occlusive Disease; Endometrial Neoplasms; Atrophy|Helicobacter Infections; Esophageal Neoplasms|Oesophageal neoplasm|Stomach Neoplasms; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Neoplasm Recurrence, Local|Squamous cell carcinoma; Fetal Growth Retardation; docetaxel pharmacokinetics docetaxel toxicity; Prenatal Exposure Delayed Effects; Endometriosis; Coronary Artery Disease|Myocardial Infarction; Bladder Neoplasm|Neoplasms, Prostatic|Prostatic Neoplasms|Urinary Bladder Neoplasms; Rosacea; Bone Marrow Diseases|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; chemotherapy toxicity; tardive dyskinesia; multiple myeloma; chemical-related sensitivity; 1-hydroxypyrene; azoospermia oligospermia; shortened gestation | benzene; Chromosome Aberrations|Chromosome abnormality|Chromosome Deletion|Translocation, Genetic; Myelodysplastic Syndromes|Preleukemia; Occupational Diseases|Respiratory Tract Diseases; Cataract; Genetic Predisposition to Disease; Precursor Cell Lymphoblastic Leukemia-Lymphoma; tuberculosis ; Breast Neoplasms|Carcinoma|Mammary Neoplasms|Neoplasm Invasiveness; intrauterine growth; atherosclerosis; myeloid leukemia; Premature Birth; Tuberculosis, Pulmonary; Coronary Disease|Coronary heart disease; Breast Neoplasms|Colorectal Neoplasms|Lung Neoplasms|Mammary Neoplasms|Neoplasm of lung |Neoplasms|ovarian neoplasm|Ovarian Neoplasms|Stomach Neoplasms; acute lymphocytic leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Leukemia, Myeloid, Acute|Recurrence; 2-hydroxyethyl mercapturic acid; Birth Weight|Fetal Growth Retardation; Eclampsia|HELLP Syndrome|Pre-Eclampsia; Cardiovascular Diseases|Micronuclei, Chromosome-Defective; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Carcinoma, Squamous Cell|Chromosome Breakage|Head and Neck Neoplasms; Carcinoma, Hepatocellular|Hepatitis B|Hepatitis C|LCC - Liver cell carcinoma|Liver neoplasms; Alzheimer's disease; Asthma|Nasal Polyps; Skin Diseases; DNA Damage|Ehlers-Danlos Syndrome|; Mouth Neoplasms; DNA damage; lung cancer; laryngeal cancer; bladder cancer; esophageal carcinoma; Hodgkin Disease; Drug-Induced Liver Injury, Chronic; Lymphoma, Large B-Cell, Diffuse|Lymphoma, Large-Cell, Diffuse; Pregnancy Complications; Arthritis, Juvenile Rheumatoid|Disease Susceptibility; Erythema|Sunburn; Liver Cirrhosis, Alcoholic|Pancreatitis, Alcoholic; Multiple Myeloma; Asthma|Hypersensitivity; Crohn's disease; laryngeal cancer; melanoma; PAH-DNA adducts; liver function- N, N-dimethylformamide; Genital Diseases, Female; Dyspepsia|Peptic Ulcer|Stomach Neoplasms; Pancreatitis; Chronic renal failure|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetic Nephropathies|Diabetic Nephropathy|Hypertension|Kidney Failure, Chronic; Anemia, Aplastic|Aplastic anemia; Schizophrenia; longevity; diabetes, type 2; liver disease; leukemia, lymphoid; alcohol; Birth Weight|Respiratory Distress Syndrome, Newborn; pharmacogenetic studies; DNA Damage; oxidative stress ; Glioma; Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Oesophageal neoplasm|Squamous cell carcinoma; stomach cancer; non-Hodgkin's lymphoma; motor neuron disease; acute lymphocytic leukemia|Precursor Cell Lymphoblastic Leukemia-Lymphoma|Prenatal Exposure Delayed Effects; Adenocarcinoma|ovarian neoplasm|Ovarian Neoplasms; Barrett Esophagus|Esophagitis, Peptic|Gastroesophageal Reflux|Peptic Esophagitis; Leukemia, Myeloid, Acute|Leukemias, Acute Myeloblastic; Hearing Loss, Sensorineural|Hearing Loss, Sudden; Atherosclerosis|Cerebral Infarction; Hodgkin's disease; non-Hodgkin's lymphoma; lung cancer; emphysema; schizophrenia; Carcinoma, Renal Cell|Kidney Neoplasms; leukemia, acute myeloblastic; ovarian cancer; arsenic metabolism; Drug-Induced Liver Injury|; breast cancer ; Cervical Intraepithelial Neoplasia|Cervical Neoplasm|Papillomavirus Infections|Uterine Cervical Neoplasms; Dyslipidemias|Hypertension; Carcinoma, Squamous Cell|Chromosome Breakage|Head and Neck Neoplasms|Neoplasms, Second Primary|Squamous cell carcinoma; breast cancer; thiopurine methyltransferase activity; Nephrotic Syndrome; Liver Diseases; Carcinoma, Renal Cell|Kidney Neoplasms|Renal Cell Carcinoma; Adenocarcinoma|pancreatic neoplasm|Pancreatic Neoplasms; Leukemia, Myeloid|Myeloid Leukemia; Adenocarcinoma|Carcinoma, Large Cell|Carcinoma, Small Cell|Carcinoma, Squamous Cell|Lung Neoplasms|Neoplasm of lung |Small cell carcinoma of lung|Squamous cell carcinoma; lymphoma; cardiovascular; solar keratosis; liver injury, drug-induced; arsenic; Adenoma|Colorectal Neoplasms|; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Chronic ulcerative colitis|Colitis, Ulcerative|Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Liver Cirrhosis; Hepatitis B|Hepatitis, Chronic|Liver Cirrhosis; DNA Damage|Infertility, Male|Varicocele; colorectal cancer; Carcinoma, Transitional Cell|Urologic Neoplasms; Head and Neck Neoplasms; Neoplasms|Obesity; leukemia, acute myeloid; oral cancer; leukoplakia; ototoxicity; malignant mesothelioma; Cervical Intraepithelial Neoplasia|Cervical Neoplasm|Uterine Cervical Neoplasms; Carcinoma, Squamous Cell|Laryngeal neoplasm|Laryngeal Neoplasms|Neoplasm Metastasis|Squamous cell carcinoma; Brain Ischemia; arsenic toxicity; Adenocarcinoma|Esophageal Neoplasms|Oesophageal neoplasm|Stomach Neoplasms; Carcinoma, Squamous Cell|Laryngeal neoplasm|Laryngeal Neoplasms|Squamous cell carcinoma; Adenoma|Rectal Neoplasms; Gastrointestinal Neoplasms|Nervous System Diseases; Esophageal Neoplasms|Oesophageal neoplasm; gastric disease; aplastic anemia, acquired; pneumoconiosis, coal workers'; 1-hydroxypyrene, urinary; lymphoma; Hodgkin's disease; Liver Cirrhosis, Alcoholic; gastric cancer; Acute Lung Injury|Respiratory Distress Syndrome, Adult; Astrocytoma|Brain Neoplasms; Carcinoma, Papillary, Follicular|Papillary and follicular adenocarcinoma|thyroid neoplasm|Thyroid Neoplasms; arthritis; osteoarthritis; Stomach Neoplasms; prostate cancer; cervical cancer; Lymphoma, Non-Hodgkin; Carcinoma, Squamous Cell|Esophageal Neoplasms|Oesophageal neoplasm|Squamous cell carcinoma; Drug-Induced Liver Injury|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Arsenic Poisoning|Skin Diseases; Cocarcinogenesis|Kidney Neoplasms; Brain Neoplasms; melanoma|Skin Neoplasms; cyclophosphamide pharmacokinetics; kidney cancer; metabolism of toluene di-isocyanate; Coronary Disease|; acute lymphocytic leukemia|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Uterine Cervical Neoplasms; Airway Remodeling; PAH metabolites, urinary; exposure to 1,3-butadiene; Infertility, Male; Urinary Bladder Neoplasms; 1,3-butadiene; Drug-Induced Liver Injury|Tuberculosis, Pulmonary; Adenocarcinoma|Uterine Cervical Neoplasms; diabetes, type 2; Dyskinesia, Drug-Induced|; Leukemia, Myeloid|Myeloid Leukemia|Recurrence; Dermatitis, Allergic Contact|Dermatitis, Occupational; Chromosome Aberrations|Chromosome abnormality|Micronuclei, Chromosome-Defective|Radiation Injuries; Drug Eruptions; Brain Neoplasms|Kidney Diseases|Leukemia|Neurotoxicity Syndromes; isothiocyanates; Aging/ Telomere Length; Hearing Loss, Noise-Induced; Leukemia|Prenatal Exposure Delayed Effects; Periodontitis; Leukemia, Lymphocytic, Acute, L1|Leukemia, Lymphocytic, Acute, L2|Leukemia, Pre-B-Cell|Precursor B-Cell Lymphoblastic Leukemia-Lymphoma|Precursor Cell Lymphoblastic Leukemia-Lymphoma|Translocation, Genetic; chromosome damage DNA damage; Adenocarcinoma|Colorectal Neoplasms; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Neoplasms, Multiple Primary|Respiratory Tract Neoplasms|Squamous cell carcinoma; Cleft Palate; Drug-Induced Liver Injury|Hepatitis, Toxic|Tuberculosis, Pulmonary; Sudden Infant Death; DNA adducts; head and neck cancer; pancreatic cancer; Arthritis, Rheumatoid|Rheumatoid Arthritis; lung cancer; hamartomas; cystic fibrosis; tuberculosis; esophageal cancer; gallbladder cancer; head and neck squamous cell carcinoma ; Nasopharyngeal Neoplasms; Adenocarcinoma|Barrett Esophagus|Esophageal Neoplasms|Gastroesophageal Reflux|Oesophageal neoplasm; Birth Weight|Chromosome Aberrations|Chromosome abnormality|DNA Damage|Tobacco Use Disorder; DNA Damage|Myocardial Infarction; Birth Weight|Premature Birth; Arsenic Poisoning|Bladder Neoplasm|Carcinoma, Transitional Cell|Urinary Bladder Neoplasms; oral cancer; liver disease, alcoholic; methotrexate toxicity; lung cancer; homocysteine; Chromosome Aberrations|Chromosome abnormality|DNA Damage; glaucoma, primary open-angle; bronchitis; pneumonia; diet effects; Head and Neck Neoplasms|Neoplasms, Multiple Primary; Drug-Induced Liver Injury|Hepatitis, Toxic; hypertension; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; Neoplasms; Exfoliation Syndrome|Glaucoma, Open-Angle; Cell Transformation, Neoplastic|Cervical Intraepithelial Neoplasia|Cervical Neoplasm|Papillomavirus Infections|Tumor Virus Infections|Uterine Cervical Neoplasms; Alcoholic Liver Diseases|Liver Diseases, Alcoholic; Poisoning; Longevity; benzene toxicity; vinyl chloride; Leukemia, Lymphocytic, Chronic, B-Cell; Leukoplakia, Oral; Optic Nerve Diseases; coronary artery disease; DNA Damage|Head and Neck Neoplasms; sulphamethoxazole hypersensitivity; thyroid cancer; cleft lip with cleft palate cleft lip without cleft palate; DNA damage associated with exposure to air pollution; Carcinoma, Papillary|Thyroid Neoplasms; Bladder Neoplasm|Urinary Bladder Neoplasms; Adenomatous Polyposis Coli|Colorectal Neoplasms; Hypospadias; mountain sickness; hepatocellular carcinoma; glutathione S-transferase; Neutropenia; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; Carcinoma, Squamous Cell|Head and Neck Neoplasms; Graves Disease; Adenocarcinoma, Follicular|Carcinoma, Papillary|Thyroid Neoplasms; Chronic Obstructive Pulmonary Disease; Carcinoma, Squamous Cell|Mouth Neoplasms|Squamous cell carcinoma|Tobacco Use Disorder; Obesity; Chromosome Aberrations; esophageal and gastric cardia cancer; Chromosome Aberrations|Chromosome abnormality; Adenocarcinoma|Carcinoma, Squamous Cell|Lung Neoplasms|Mouth Neoplasms|Neoplasm of lung |Squamous cell carcinoma|Stomach Neoplasms; neuropathy; diabetic neuropathy; asthma; nasopharyngeal cancer; chronic obstructive pulmonary disease; myelodysplastic syndrome; azathioprine adverse effects; Exfoliation Syndrome|Glaucoma; Carcinoma, Squamous Cell|Head and Neck Neoplasms|Squamous cell carcinoma; pancreatic neoplasm|Pancreatic Neoplasms; endometriosis; smoking; Hypertension; Amphetamine-Related Disorders; Varicocele; Cystic Fibrosis|DNA Damage; Glaucoma, Open-Angle|Low Tension Glaucoma|Ocular Hypertension; leukemia, myeloid; Black carbon exposure; styrene; normal variation; Carcinoma, Basal Cell|Skin Neoplasms; Leukemia, Myeloid; BILIARY CIRRHOSIS|Liver Cirrhosis, Biliary; Edema|Protein-Energy Malnutrition; 1-hyrdoxypyrene glucuronide concentrations; Adenocarcinoma|Stomach Neoplasms; Brill-Symmers disease|Chronic Lymphocytic Leukemia|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoma, Follicular; Cocarcinogenesis|Mouth Neoplasms; Coronary Artery Disease; Brain Neoplasms|Glioma|oligodendroglioma; Coronary Disease|Coronary heart disease|Diabetes mellitus|Inflammation; Hodgkin Disease|Neoplasms, Radiation-Induced; psoriasis; Asthma; thyroid neoplasm|Thyroid Neoplasms; Balkan Nephropathy; Cervical Neoplasm|Uterine Cervical Neoplasms; Retinopathy of Prematurity; Carcinoma, Squamous Cell|Lymphatic Metastasis|Mouth Neoplasms|Squamous cell carcinoma	Mis homozygous for disruption of this gene appear to be normal and fertile with the exception of a reduced ability to clear 11,2-bis(2-chloroethyl)-1-nitrosourea from the plasma after a single i.p. dose.	Glutathione conjugation	GO:0006749;glutathione metabolic process;IDA|GO:0098869;cellular oxidant detoxification;IEA|GO:1901687;glutathione derivative biosynthetic process;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0004364;glutathione transferase activity;TAS|GO:0004602;glutathione peroxidase activity;IDA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GSTT1			https://www.ncbi.nlm.nih.gov/omim/?term=600436	http://www.informatics.jax.org/searchtool/Search.do?query=GSTT1&submit=Quick%0D%21878ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GSTT1
22_4.194_23.194	Chr22:17733575-25291782	0.374	GSTT2	ENSG00000277897	glutathione S-transferase theta 2 (gene/pseudogene)	chr22:24322339-24326106	The protein encoded by this gene, glutathione S-transferase (GST) theta 2 (GSTT2), is a member of a superfamily of proteins that catalyze the conjugation of reduced glutathione to a variety of electrophilic and hydrophobic compounds. Human GSTs can be divided into five main classes: alpha, mu, pi, theta, and zeta. The theta class includes GSTT1, GSTT2, and GSTT2B. GSTT2 and GSTT2B are nearly identical to each other, and share 55% amino acid identity with GSTT1. All three genes may play a role in human carcinogenesis. The GSTT2 gene is a pseudogene in some populations. [provided by RefSeq, Sep 2015]	schizophrenia; Aging/ Telomere Length; colorectal cancer; mental development; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal neoplasm|Laryngeal Neoplasms|Mouth Neoplasms|Oesophageal neoplasm|Pharyngeal Neoplasms; DNA Damage|Neoplasms; Amphetamine-Related Disorders|Recurrence; Infection|Inflammation|Premature Birth; lung cancer; alcohol abuse; smoking behavior; Helicobacter Infections; Genomic Instability|Mesothelioma|Pleural Neoplasms; Esophageal Neoplasms|Head and Neck Neoplasms|Laryngeal Neoplasms|Mouth Neoplasms|Pharyngeal Neoplasms; prenatal environment exposure	Mice homozygous for a disruption in this gene display a normal phenotype.	Glutathione conjugation		GO:0005737;cytoplasm;IEA|GO:0070062;extracellular exosome;IDA	GO:0004364;glutathione transferase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GSTT2	https://www.uniprot.org/uniprot/P0CG29		https://www.ncbi.nlm.nih.gov/omim/?term=600437	http://www.informatics.jax.org/searchtool/Search.do?query=GSTT2&submit=Quick%0D%21925ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GSTT2
22_4.194_23.194	Chr22:17733575-25291782	0.374	GSTT2B	ENSG00000278695	glutathione S-transferase theta 2B (gene/pseudogene)	chr22:24299601-24303373	The protein encoded by this gene, glutathione S-transferase (GST) theta 2B (GSTT2B), is a member of a superfamily of proteins that catalyze the conjugation of reduced glutathione to a variety of electrophilic and hydrophobic compounds. Human GSTs can be divided into five main classes: alpha, mu, pi, theta, and zeta. The theta class includes GSTT1, GSTT2, and GSTT2B. GSTT2 and GSTT2B are nearly identical to each other, and share 55% amino acid identity with GSTT1. All three genes may play a role in human carcinogenesis. The GSTT2B gene is a pseudogene in some populations. [provided by RefSeq, Sep 2015]		Mice homozygous for a disruption in this gene display a normal phenotype.	Glutathione conjugation	GO:1901687;glutathione derivative biosynthetic process;TAS	GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0004364;glutathione transferase activity;TAS|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/GSTT2B	https://www.uniprot.org/uniprot/P0CG30			http://www.informatics.jax.org/searchtool/Search.do?query=GSTT2B&submit=Quick%0D%22114ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GSTT2B
22_4.194_23.194	Chr22:17733575-25291782	0.374	GSTTP1	ENSG00000281748		chr22:24340828-24347258								http://www.genecards.org/index.php?path=/Search/keyword/GSTTP1				http://www.informatics.jax.org/searchtool/Search.do?query=GSTTP1&submit=Quick%0D%22331ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GSTTP1
22_4.194_23.194	Chr22:17733575-25291782	0.374	GUCD1	ENSG00000138867	guanylyl cyclase domain containing 1	chr22:24936406-24951903		Amyotrophic Lateral Sclerosis	 				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/GUCD1	https://www.uniprot.org/uniprot/Q96NT3			http://www.informatics.jax.org/searchtool/Search.do?query=GUCD1&submit=Quick%0D%7818ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=GUCD1
10_101.305_148.305	Chr10:78740262-120743937	1.191	HABP2	ENSG00000148702	hyaluronan binding protein 2	chr10:115310596-115349361	This gene encodes a member of the peptidase S1 family of serine proteases. The encoded preproprotein is secreted by hepatocytes and proteolytically processed to generate heavy and light chains that form the mature heterodimer. Further autoproteolysis leads to smaller, inactive peptides. This extracellular protease binds hyaluronic acid and may play a role in the coagulation and fibrinolysis systems. Mutations in this gene are associated with nonmedullary thyroid cancer and susceptibility to venous thromboembolism. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]	Sleep; Type 2 Diabetes| edema | rosiglitazone; null; Alzheimer's disease ; Blood Pressure Determination; smoking cessation; Hepatitis C|Liver Cirrhosis; thromboembolism, venous; Venous Thrombosis; Hemorrhagic Disorders; cholesterol; triglycerides; atherosclerosis, coronary	Mice homozygous for a knock-out allele exhibit decreased lethality but increased liver fibrosis, inflammation and injury following bile duct ligation.		GO:0006508;proteolysis;IEA|GO:0007155;cell adhesion;TAS	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;TAS	GO:0004252;serine-type endopeptidase activity;IEA|GO:0005509;calcium ion binding;IEA|GO:0005539;glycosaminoglycan binding;TAS|GO:0008233;peptidase activity;IEA|GO:0008236;serine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HABP2	https://www.uniprot.org/uniprot/Q14520	https://hpo.jax.org/app/browse/search?q=HABP2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603924	http://www.informatics.jax.org/searchtool/Search.do?query=HABP2&submit=Quick%0D%9150ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HABP2
2_252.744_266.744	Chr2:235528138-241561721	0.223	HDAC4	ENSG00000068024	histone deacetylase 4	chr2:239969864-240323348	Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to class II of the histone deacetylase/acuc/apha family. It possesses histone deacetylase activity and represses transcription when tethered to a promoter. This protein does not bind DNA directly, but through transcription factors MEF2C and MEF2D. It seems to interact in a multiprotein complex with RbAp48 and HDAC3. [provided by RefSeq, Jul 2008]	Schizophrenia; Carotid artery stenosis|Carotid Stenosis; Body Weight; Triglycerides; cleft lip with cleft palate cleft lip without cleft palate cleft palate; Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for a gene trap allele exhibit increased thermal nociception threshold and seizures.  Mice homozygous for a knock-out allele exhibit postnatal lethality, exencephaly, and abnormal skeleton morphology and physiology.	RUNX3 regulates p14-ARF	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001501;skeletal system development;IEA|GO:0002076;osteoblast development;IEA|GO:0006325;chromatin organization;IEA|GO:0006338;chromatin remodeling;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006476;protein deacetylation;IDA|GO:0006954;inflammatory response;TAS|GO:0007399;nervous system development;TAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0008285;negative regulation of cell proliferation;IEA|GO:0010592;positive regulation of lamellipodium assembly;IEA|GO:0010832;negative regulation of myotube differentiation;IMP|GO:0010882;regulation of cardiac muscle contraction by calcium ion signaling;IEA|GO:0014894;response to denervation involved in regulation of muscle adaptation;IEA|GO:0014898;cardiac muscle hypertrophy in response to stress;TAS|GO:0014911;positive regulation of smooth muscle cell migration;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0016575;histone deacetylation;IDA|GO:0030183;B cell differentiation;TAS|GO:0033235;positive regulation of protein sumoylation;IDA|GO:0034983;peptidyl-lysine deacetylation;IDA|GO:0040029;regulation of gene expression, epigenetic;IMP|GO:0042113;B cell activation;TAS|GO:0042493;response to drug;IEA|GO:0043393;regulation of protein binding;IMP|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IMP|GO:0043525;positive regulation of neuron apoptotic process;IEA|GO:0045668;negative regulation of osteoblast differentiation;IEA|GO:0045820;negative regulation of glycolytic process;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048661;positive regulation of smooth muscle cell proliferation;IEA|GO:0048742;regulation of skeletal muscle fiber development;IEA|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IMP|GO:0051153;regulation of striated muscle cell differentiation;IEA|GO:0070555;response to interleukin-1;IMP|GO:0070932;histone H3 deacetylation;IDA|GO:0070933;histone H4 deacetylation;IDA|GO:0071260;cellular response to mechanical stimulus;IEA|GO:0071356;cellular response to tumor necrosis factor;IEA|GO:0071374;cellular response to parathyroid hormone stimulus;IEA|GO:1902894;negative regulation of pri-miRNA transcription from RNA polymerase II promoter;IEA|GO:1903428;positive regulation of reactive oxygen species biosynthetic process;IEA	GO:0000118;histone deacetylase complex;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IEA|GO:0017053;transcriptional repressor complex;IDA|GO:0030017;sarcomere;IEA|GO:0030018;Z disc;IEA|GO:0031594;neuromuscular junction;IEA|GO:0031672;A band;IEA|GO:0042641;actomyosin;IEA|GO:0043234;protein complex;IEA	GO:0001025;RNA polymerase III transcription factor binding;IPI|GO:0001047;core promoter binding;IDA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003714;transcription corepressor activity;IEA|GO:0004407;histone deacetylase activity;IDA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0008270;zinc ion binding;IDA|GO:0016787;hydrolase activity;IEA|GO:0019901;protein kinase binding;IEA|GO:0030955;potassium ion binding;IDA|GO:0032041;NAD-dependent histone deacetylase activity (H3-K14 specific);IEA|GO:0033558;protein deacetylase activity;TAS|GO:0033613;activating transcription factor binding;IPI|GO:0042826;histone deacetylase binding;IPI|GO:0043565;sequence-specific DNA binding;IDA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046872;metal ion binding;IEA|GO:0070491;repressing transcription factor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/HDAC4	https://www.uniprot.org/uniprot/P56524	https://hpo.jax.org/app/browse/search?q=HDAC4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605314	http://www.informatics.jax.org/searchtool/Search.do?query=HDAC4&submit=Quick%0D%1272ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HDAC4
10_101.305_148.305	Chr10:78740262-120743937	1.191	HECTD2	ENSG00000165338	HECT domain E3 ubiquitin protein ligase 2	chr10:93170096-93274586		Alzheimer's disease ; Echocardiography	 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000209;protein polyubiquitination;TAS|GO:0016567;protein ubiquitination;IEA	GO:0005829;cytosol;TAS	GO:0004842;ubiquitin-protein transferase activity;EXP|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HECTD2				http://www.informatics.jax.org/searchtool/Search.do?query=HECTD2&submit=Quick%0D%11521ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HECTD2
10_101.305_148.305	Chr10:78740262-120743937	1.191	HELLS	ENSG00000119969	helicase, lymphoid specific	chr10:96305547-96373662	This gene encodes a lymphoid-specific helicase. Other helicases function in processes involving DNA strand separation, including replication, repair, recombination, and transcription. This protein is thought to be involved with cellular proliferation and may play a role in leukemogenesis. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jan 2014]	epithelial ovarian cancer ; Acenocoumarol; Ticlopidine	Homozygotes for a null allele show DNA hypomethylation, delayed growth, multiorgan and skeletal defects, premature graying, alopecia, low fat deposition, kyphosis, cachexia and early death. Homozygotes for another null allele show neonatal death, low birth weight, lymphoid defects and renal lesions.		GO:0001655;urogenital system development;IEA|GO:0006306;DNA methylation;IEA|GO:0006342;chromatin silencing;IEA|GO:0006346;methylation-dependent chromatin silencing;ISS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007049;cell cycle;IEA|GO:0007275;multicellular organism development;IEA|GO:0010216;maintenance of DNA methylation;ISS|GO:0031508;pericentric heterochromatin assembly;ISS|GO:0043066;negative regulation of apoptotic process;IEA|GO:0046651;lymphocyte proliferation;ISS|GO:0051301;cell division;IEA|GO:2001243;negative regulation of intrinsic apoptotic signaling pathway;IEA	GO:0000775;chromosome, centromeric region;ISS|GO:0005634;nucleus;IEA|GO:0005721;pericentric heterochromatin;ISS	GO:0000166;nucleotide binding;IEA|GO:0003682;chromatin binding;IEA|GO:0004386;helicase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HELLS	https://www.uniprot.org/uniprot/Q9NRZ9	https://hpo.jax.org/app/browse/search?q=HELLS&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603946	http://www.informatics.jax.org/searchtool/Search.do?query=HELLS&submit=Quick%0D%5147ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HELLS
2_252.744_266.744	Chr2:235528138-241561721	0.223	HES6	ENSG00000144485	hes family bHLH transcription factor 6	chr2:239146908-239149303	This gene encodes a member of a subfamily of basic helix-loop-helix transcription repressors that have homology to the Drosophila enhancer of split genes. Members of this gene family regulate cell differentiation in numerous cell types. The protein encoded by this gene functions as a cofactor, interacting with other transcription factors through a tetrapeptide domain in its C-terminus. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Dec 2008]	Autism; mood disorders	 		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;TAS|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0030154;cell differentiation;IEA	GO:0005634;nucleus;IEA|GO:0005667;transcription factor complex;ISS	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IEA|GO:0001227;transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003712;transcription cofactor activity;ISS|GO:0008134;transcription factor binding;NAS|GO:0046983;protein dimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HES6	https://www.uniprot.org/uniprot/Q96HZ4		https://www.ncbi.nlm.nih.gov/omim/?term=610331	http://www.informatics.jax.org/searchtool/Search.do?query=HES6&submit=Quick%0D%8614ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HES6
10_101.305_148.305	Chr10:78740262-120743937	1.191	HHEX	ENSG00000152804	hematopoietically expressed homeobox	chr10:94447945-94455403	This gene encodes a member of the homeobox family of transcription factors, many of which are involved in developmental processes. Expression in specific hematopoietic lineages suggests that this protein may play a role in hematopoietic differentiation. [provided by RefSeq, Jul 2008]	Diabetes mellitus type II|Diabetes Mellitus, Type 2|Endometrial Neoplasms|Obesity; Calcinosis|Coronary Artery Disease|Diabetes mellitus; Diabetes Mellitus, Type 2|Hyperglycemia; Arteries; null; diabetes, type 1 ; Diabetes Mellitus|; Diabetes Mellitus, Type 2|Glucose Intolerance; Diabetes Mellitus, Type 2|Insulin Resistance; type 2 diabetes; Alzheimer's Disease; obesity|BMI; polycystic ovary syndrome; BMI; Multiple Sclerosis; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; Type 2 diabetes; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; Diabetes Mellitus, Type 2; glucose homeostasis; Dehydroepiandrosterone Sulfate; diabetes, type 2 triglycerides; diabetes, type 2; Diabetes Mellitus|Diabetes Mellitus, Type 2|; obesity; Type 2 diabetes|reduced prostate cancer risk; Diabetes Mellitus, Type 2|Fetal Diseases|Malnutrition|Starvation; Coronary Disease; diabetes, type 2 | diabetes, type 1; atherosclerosis; pharmacogenetic studies	Mice homozygous for a knock-out allele exhibit embryonic lethality associated with abnormal embryogenesis and cardiac development.  Mice homozygous for another knock-out allele exhibit embryonic lethality, fetal lethality and abnormal nervous system development.	POU5F1 (OCT4), SOX2, NANOG repress genes related to differentiation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001570;vasculogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0001889;liver development;IEA|GO:0002009;morphogenesis of an epithelium;IEA|GO:0002573;myeloid leukocyte differentiation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006406;mRNA export from nucleus;IDA|GO:0007165;signal transduction;IEA|GO:0007219;Notch signaling pathway;IEA|GO:0007275;multicellular organism development;IEA|GO:0007492;endoderm development;IEA|GO:0008283;cell proliferation;IDA|GO:0009611;response to wounding;IEA|GO:0009887;animal organ morphogenesis;IEA|GO:0009952;anterior/posterior pattern specification;IEA|GO:0010621;negative regulation of transcription by transcription factor localization;IC|GO:0010944;negative regulation of transcription by competitive promoter binding;TAS|GO:0016055;Wnt signaling pathway;IEA|GO:0016525;negative regulation of angiogenesis;ISS|GO:0016973;poly(A)+ mRNA export from nucleus;IMP|GO:0022027;interkinetic nuclear migration;IEA|GO:0030097;hemopoiesis;IEA|GO:0030154;cell differentiation;IC|GO:0030177;positive regulation of Wnt signaling pathway;IEA|GO:0030183;B cell differentiation;IEA|GO:0030878;thyroid gland development;IEA|GO:0030900;forebrain development;IEA|GO:0030948;negative regulation of vascular endothelial growth factor receptor signaling pathway;ISS|GO:0031016;pancreas development;IEA|GO:0034504;protein localization to nucleus;IDA|GO:0035050;embryonic heart tube development;IEA|GO:0035264;multicellular organism growth;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0043434;response to peptide hormone;IEA|GO:0045736;negative regulation of cyclin-dependent protein serine/threonine kinase activity;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048568;embryonic organ development;IEA|GO:0048729;tissue morphogenesis;IEA|GO:0048853;forebrain morphogenesis;IEA|GO:0060431;primary lung bud formation;IEA|GO:0061009;common bile duct development;IEA|GO:0061010;gall bladder development;IEA|GO:0061011;hepatic duct development;IEA|GO:0061017;hepatoblast differentiation;IEA|GO:0070365;hepatocyte differentiation;IEA|GO:0071103;DNA conformation change;IDA|GO:0090009;primitive streak formation;IEA	GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0032993;protein-DNA complex;IDA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IEA|GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001078;transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0001227;transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0008190;eukaryotic initiation factor 4E binding;IDA|GO:0008301;DNA binding, bending;IDA|GO:0017025;TBP-class protein binding;TAS|GO:0042803;protein homodimerization activity;IPI|GO:0043565;sequence-specific DNA binding;IDA|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0070491;repressing transcription factor binding;IDA|GO:0071837;HMG box domain binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HHEX	https://www.uniprot.org/uniprot/Q03014		https://www.ncbi.nlm.nih.gov/omim/?term=604420	http://www.informatics.jax.org/searchtool/Search.do?query=HHEX&submit=Quick%0D%9596ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HHEX
22_4.194_23.194	Chr22:17733575-25291782	0.374	HIC2	ENSG00000169635	HIC ZBTB transcriptional repressor 2	chr22:21771693-21805752		systemic lupus erythematosus	Homozygous inactivation of this gene results in embryonic lethality. A subset of mice heterozygous for a knock-out allele exhibit prenatal lethality and cardiac defects including a ventricular septal defect with overriding aortic valve, and thin myocardial and trabecular layers.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0045892;negative regulation of transcription, DNA-templated;NAS	GO:0005634;nucleus;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0008022;protein C-terminus binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HIC2			https://www.ncbi.nlm.nih.gov/omim/?term=607712	http://www.informatics.jax.org/searchtool/Search.do?query=HIC2&submit=Quick%0D%12535ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HIC2
10_101.305_148.305	Chr10:78740262-120743937	1.191	HIF1AN	ENSG00000166135	hypoxia inducible factor 1 alpha subunit inhibitor	chr10:102288829-102319755		lung cancer; Alzheimer's disease ; prostate cancer; lung cancer ; Alzheimer Disease; chronic obstructive pulmonary disease; bladder cancer; esophageal adenocarcinoma; Coronary Artery Disease	Mice homozygous for a null allele have metabloic, behavioral and cardiopulmonary  abnormalities.	Oxygen-dependent asparagine hydroxylation of Hypoxia-inducible Factor Alpha	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0036138;peptidyl-histidine hydroxylation;IDA|GO:0042264;peptidyl-aspartic acid hydroxylation;IDA|GO:0042265;peptidyl-asparagine hydroxylation;IDA|GO:0045663;positive regulation of myoblast differentiation;IDA|GO:0045746;negative regulation of Notch signaling pathway;IDA|GO:0055114;oxidation-reduction process;IDA|GO:0061418;regulation of transcription from RNA polymerase II promoter in response to hypoxia;TAS|GO:0061428;negative regulation of transcription from RNA polymerase II promoter in response to hypoxia;IDA|GO:2001214;positive regulation of vasculogenesis;NAS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0005112;Notch binding;IPI|GO:0005506;iron ion binding;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IDA|GO:0016491;oxidoreductase activity;IEA|GO:0016706;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors;EXP|GO:0019826;oxygen sensor activity;NAS|GO:0031406;carboxylic acid binding;IDA|GO:0036139;peptidyl-histidine dioxygenase activity;IDA|GO:0036140;peptidyl-asparagine 3-dioxygenase activity;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0046872;metal ion binding;IEA|GO:0048037;cofactor binding;IDA|GO:0051059;NF-kappaB binding;IPI|GO:0051213;dioxygenase activity;IEA|GO:0071532;ankyrin repeat binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/HIF1AN			https://www.ncbi.nlm.nih.gov/omim/?term=606615	http://www.informatics.jax.org/searchtool/Search.do?query=HIF1AN&submit=Quick%0D%11702ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HIF1AN
22_4.194_23.194	Chr22:17733575-25291782	0.374	HIRA	ENSG00000100084	histone cell cycle regulator	chr22:19318221-19435224	This gene encodes a histone chaperone that preferentially places the variant histone H3.3 in nucleosomes. Orthologs of this gene in yeast, flies, and plants are necessary for the formation of transcriptionally silent heterochomatin. This gene plays an important role in the formation of the senescence-associated heterochromatin foci. These foci likely mediate the irreversible cell cycle changes that occur in senescent cells. It is considered the primary candidate gene in some haploinsufficiency syndromes such as DiGeorge syndrome, and insufficient production of the gene may disrupt normal embryonic development. [provided by RefSeq, Jul 2008]	Echocardiography; Type 2 Diabetes| edema | rosiglitazone	Homozygotes for a targeted null mutation exhibit disrupted gastrulation, malformations of axial and paraxial mesoendoderm, abnormal placentas, failure of cardiac development, and lethality by embryonic day 11.	Formation of Senescence-Associated Heterochromatin Foci (SAHF)	GO:0001649;osteoblast differentiation;IEA|GO:0006325;chromatin organization;IEA|GO:0006336;DNA replication-independent nucleosome assembly;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0007369;gastrulation;IEA|GO:0009653;anatomical structure morphogenesis;TAS|GO:0016569;covalent chromatin modification;IEA|GO:0031935;regulation of chromatin silencing;IBA|GO:0042692;muscle cell differentiation;IEA|GO:1903507;negative regulation of nucleic acid-templated transcription;IEA	GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0016605;PML body;IEA|GO:0043234;protein complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003714;transcription corepressor activity;TAS|GO:0005515;protein binding;IPI|GO:0031491;nucleosome binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/HIRA	https://www.uniprot.org/uniprot/P54198	https://hpo.jax.org/app/browse/search?q=HIRA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600237	http://www.informatics.jax.org/searchtool/Search.do?query=HIRA&submit=Quick%0D%2399ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HIRA
10_101.305_148.305	Chr10:78740262-120743937	1.191	HOGA1	ENSG00000241935	4-hydroxy-2-oxoglutarate aldolase 1	chr10:99344080-99372559	The authors of PMID:20797690 cloned this gene while searching for genes in a region of chromosome 10 linked to primary hyperoxalurea type III. They noted that even though the encoded protein has been described as a mitochondrial dihydrodipicolinate synthase-like enzyme, it shares little homology with E. coli dihydrodipicolinate synthase (Dhdps), particularly in the putative substrate-binding region. Moreover, neither lysine biosynthesis nor sialic acid metabolism, for which Dhdps is responsible, occurs in vertebrate mitochondria. They propose that this gene encodes mitochondrial 4-hydroxyl-2-oxoglutarate aldolase (EC 4.1.3.16), which catalyzes the final step in the metabolic pathway of hydroxyproline, releasing glyoxylate and pyruvate. This gene is predominantly expressed in the liver and kidney, and mutations in this gene are found in patients with primary hyperoxalurea type III. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Nov 2010]	Metabolism	Mice homozygous for a knock-out allele exhibit normal urinary excretion of oxalate but show increased urine 2,4-dihydroxyglutarate (DHG) levels especially when challenged by the inclusion of hydroxyproline in the diet.	Glyoxylate metabolism and glycine degradation	GO:0008152;metabolic process;IEA|GO:0009436;glyoxylate catabolic process;IMP|GO:0019470;4-hydroxyproline catabolic process;IDA|GO:0033609;oxalate metabolic process;IMP|GO:0042866;pyruvate biosynthetic process;IDA|GO:0046487;glyoxylate metabolic process;TAS	GO:0005739;mitochondrion;ISS|GO:0005759;mitochondrial matrix;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0003824;catalytic activity;IEA|GO:0008700;4-hydroxy-2-oxoglutarate aldolase activity;IDA|GO:0016829;lyase activity;IEA|GO:0042803;protein homodimerization activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/HOGA1		https://hpo.jax.org/app/browse/search?q=HOGA1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613597	http://www.informatics.jax.org/searchtool/Search.do?query=HOGA1&submit=Quick%0D%19698ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HOGA1
10_101.305_148.305	Chr10:78740262-120743937	1.191	HPS1	ENSG00000107521	HPS1, biogenesis of lysosomal organelles complex 3 subunit 1	chr10:100175955-100206684	This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015]	oculocutaneous albinism; Alzheimer's disease ; Hermansky-Pudlak syndrome; Coronary Disease|Coronary heart disease|Myocardial Infarction; colitis; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Melanoma|Skin Neoplasms; Thyrotropin	Homozygotes for spontaneous mutations exhibit hypopigmentation and increased bleeding time. Impaired natural killer cell function, reduced secretion of kidney lysosomal enzymes,and abnormal retinofugal neuronal projections characterize some alleles.	RAB GEFs exchange GTP for GDP on RABs	GO:0007040;lysosome organization;TAS|GO:0007601;visual perception;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0050896;response to stimulus;IEA|GO:0061024;membrane organization;TAS|GO:1903232;melanosome assembly;IDA	GO:0005737;cytoplasm;TAS|GO:0005764;lysosome;TAS|GO:0005829;cytosol;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0031085;BLOC-3 complex;IPI|GO:0031410;cytoplasmic vesicle;IDA	GO:0005085;guanyl-nucleotide exchange factor activity;IDA|GO:0005515;protein binding;IPI|GO:0046983;protein dimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/HPS1	https://www.uniprot.org/uniprot/Q92902	https://hpo.jax.org/app/browse/search?q=HPS1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604982	http://www.informatics.jax.org/searchtool/Search.do?query=HPS1&submit=Quick%0D%3611ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HPS1
10_101.305_148.305	Chr10:78740262-120743937	1.191	HPS6	ENSG00000166189	HPS6, biogenesis of lysosomal organelles complex 2 subunit 3	chr10:103825147-103827792	This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 5 protein. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 6. [provided by RefSeq, Jul 2008]	Alzheimer's disease 	Mutations in this gene result in hypopigmented hair and eyes, and increased clotting time due to a platelet dense granule defect.		GO:0006996;organelle organization;IEA|GO:0007596;blood coagulation;IEA|GO:0030318;melanocyte differentiation;IEA|GO:0032418;lysosome localization;IMP|GO:0043473;pigmentation;IEA|GO:0072657;protein localization to membrane;IMP	GO:0005737;cytoplasm;IEA|GO:0005764;lysosome;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005829;cytosol;IEA|GO:0016020;membrane;IDA|GO:0031084;BLOC-2 complex;IPI|GO:0031090;organelle membrane;IEA|GO:0031901;early endosome membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA	GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;IPI|GO:0030742;GTP-dependent protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/HPS6		https://hpo.jax.org/app/browse/search?q=HPS6&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607522	http://www.informatics.jax.org/searchtool/Search.do?query=HPS6&submit=Quick%0D%11724ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HPS6
10_101.305_148.305	Chr10:78740262-120743937	1.191	HPSE2	ENSG00000172987	heparanase 2 (inactive)	chr10:100218875-100995619	This gene encodes a heparanase enzyme. The encoded protein is a endoglycosidase that degrades heparin sulfate proteoglycans located on the extracellular matrix and cell surface. This protein may be involved in biological processes involving remodeling of the extracellular matrix including angiogenesis and tumor progression. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]	Tobacco Use Disorder; Alzheimer's disease 	Mice homozygous for a gene-trapped allele exhibit growth retardation, a distended urinary bladder, abnormal voiding behavior, proteinuria, renal dysfunction and malnutrition, reduced cell proliferation, urinary bladder fibrosis, and lethality within one month of age.	HS-GAG degradation	GO:0006027;glycosaminoglycan catabolic process;TAS|GO:0008150;biological_process;ND|GO:0008284;positive regulation of cell proliferation;IEA|GO:0030198;extracellular matrix organization;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IDA|GO:0005622;intracellular;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA	GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0030305;heparanase activity;TAS|GO:0043395;heparan sulfate proteoglycan binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/HPSE2		https://hpo.jax.org/app/browse/search?q=HPSE2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613469	http://www.informatics.jax.org/searchtool/Search.do?query=HPSE2&submit=Quick%0D%13273ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HPSE2
10_101.305_148.305	Chr10:78740262-120743937	1.191	HSPA12A	ENSG00000165868	heat shock protein family A (Hsp70) member 12A	chr10:118430703-118502085		Aging/ Telomere Length; cognitive trait	 	Regulation of HSF1-mediated heat shock response	GO:0008150;biological_process;ND	GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003674;molecular_function;ND|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/HSPA12A			https://www.ncbi.nlm.nih.gov/omim/?term=610701	http://www.informatics.jax.org/searchtool/Search.do?query=HSPA12A&submit=Quick%0D%11643ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HSPA12A
10_101.305_148.305	Chr10:78740262-120743937	1.191	HTR7	ENSG00000148680	5-hydroxytryptamine receptor 7	chr10:92500578-92617671	The neurotransmitter, serotonin, is thought to play a role in various cognitive and behavioral functions. The serotonin receptor encoded by this gene belongs to the superfamily of G protein-coupled receptors and the gene is a candidate locus for involvement in autistic disorder and other neuropsychiatric disorders. Three splice variants have been identified which encode proteins that differ in the length of their carboxy terminal ends. [provided by RefSeq, Jul 2008]	Bulimia; Alzheimer's disease ; schizophrenia; alcohol abuse; Autism; Glucose; anorexia nervosa; bulimia; several psychiatric disorders; Weight Gain; migraine ; Fatigue|Fatigue Syndrome, Chronic; Hypercholesterolemia|LDLC levels	Mice homozygous for a knock-out allele display lower electrically- and chemically-induced seizure thresholds. Mice homozygous for a different knock-out allele show enhanced coordination and higher thermal nociceptive thresholds. Other nullizygous mutantsfail to exhibit agonist-induced hypothermia.	G alpha (s) signalling events	GO:0006939;smooth muscle contraction;IEA|GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007187;G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger;TAS|GO:0007198;adenylate cyclase-inhibiting serotonin receptor signaling pathway;IBA|GO:0007268;chemical synaptic transmission;TAS|GO:0007623;circadian rhythm;TAS|GO:0008015;blood circulation;TAS|GO:0042310;vasoconstriction;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004993;G-protein coupled serotonin receptor activity;TAS|GO:0030594;neurotransmitter receptor activity;IBA|GO:0051378;serotonin binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/HTR7	https://www.uniprot.org/uniprot/P34969		https://www.ncbi.nlm.nih.gov/omim/?term=182137	http://www.informatics.jax.org/searchtool/Search.do?query=HTR7&submit=Quick%0D%9146ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=HTR7
10_101.305_148.305	Chr10:78740262-120743937	1.191	IDE	ENSG00000119912	insulin degrading enzyme	chr10:94211441-94333833	This gene encodes a zinc metallopeptidase that degrades intracellular insulin, and thereby terminates insulins activity, as well as participating in intercellular peptide signalling by degrading diverse peptides such as glucagon, amylin, bradykinin, and kallidin. The preferential affinity of this enzyme for insulin results in insulin-mediated inhibition of the degradation of other peptides such as beta-amyloid. Deficiencies in this protein's function are associated with Alzheimer's disease and type 2 diabetes mellitus but mutations in this gene have not been shown to be causitive for these diseases. This protein localizes primarily to the cytoplasm but in some cell types localizes to the extracellular space, cell membrane, peroxisome, and mitochondrion. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described but have not been experimentally verified.[provided by RefSeq, Sep 2009]	diabetes, type 2 | diabetes, type 1; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; BMI; Bone Mineral Density; cognitive trait; Diabetes Mellitus|Diabetes Mellitus, Type 2|; Alzheimer's disease; Alzheimer's disease; Parkinson's disease; Alzheimer's disease cognitive function; metabolic syndrome; Diabetes Mellitus, Type 2|Hyperglycemia; diabetes, type 1 ; diabetes, type 2; glucose; HbA1c; Alzheimer's Disease; Acquired Immunodeficiency Syndrome|Disease Progression; insulin; Type 2 Diabetes| edema | rosiglitazone; diabetes, type 2; insulin; glucose; obesity; Type 2 diabetes|reduced prostate cancer risk; diabetes, type 2; Type 2 diabetes; Diabetes Mellitus, Type 2|Insulin Resistance; Alzheimer's disease ; Diabetes Mellitus|; Down syndrome; Aging/ Telomere Length; Diabetes Mellitus, Type 2; Polycystic Ovary Syndrome; cognitive function executive function memory disturbance	Mice homozygous for a null allele show beta amyloid accumulations in the brain, hyperinsulinemia, and glucose intolerance. Mice homozygous for a different null allele show decreased testis weight, small seminiferous tubules, abnormal sperm morphology, and decreased sperm viability.	Ub-specific processing proteases	GO:0006508;proteolysis;IDA|GO:0008152;metabolic process;IEA|GO:0008286;insulin receptor signaling pathway;NAS|GO:0008340;determination of adult lifespan;IDA|GO:0010815;bradykinin catabolic process;IDA|GO:0010992;ubiquitin homeostasis;IDA|GO:0016032;viral process;IEA|GO:0032461;positive regulation of protein oligomerization;IDA|GO:0042447;hormone catabolic process;IEA|GO:0044257;cellular protein catabolic process;IEA|GO:0045861;negative regulation of proteolysis;IEA|GO:0046718;viral entry into host cell;IEA|GO:0050435;beta-amyloid metabolic process;IDA|GO:0051260;protein homooligomerization;IDA|GO:0051289;protein homotetramerization;IEA|GO:0051291;protein heterooligomerization;IEA|GO:0051603;proteolysis involved in cellular protein catabolic process;IDA|GO:1901142;insulin metabolic process;IDA|GO:1901143;insulin catabolic process;IDA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005777;peroxisome;IDA|GO:0005782;peroxisomal matrix;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;IEA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0031597;cytosolic proteasome complex;IEA	GO:0000166;nucleotide binding;IEA|GO:0001540;beta-amyloid binding;IEA|GO:0001618;virus receptor activity;IEA|GO:0001948;glycoprotein binding;IPI|GO:0003824;catalytic activity;IEA|GO:0004222;metalloendopeptidase activity;IDA|GO:0005102;receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IDA|GO:0016787;hydrolase activity;IEA|GO:0016887;ATPase activity;IEA|GO:0017046;peptide hormone binding;IEA|GO:0031626;beta-endorphin binding;IEA|GO:0042277;peptide binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0043130;ubiquitin binding;IPI|GO:0043559;insulin binding;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/IDE	https://www.uniprot.org/uniprot/P14735		https://www.ncbi.nlm.nih.gov/omim/?term=146680	http://www.informatics.jax.org/searchtool/Search.do?query=IDE&submit=Quick%0D%5133ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IDE
10_101.305_148.305	Chr10:78740262-120743937	1.191	IFIT1	ENSG00000185745	interferon induced protein with tetratricopeptide repeats 1	chr10:91152303-91163745	This gene encodes a protein containing tetratricopeptide repeats that was originally identified as induced upon treatment with interferon. The encoded protein may inhibit viral replication and translational initiation. This gene is located in a cluster on chromosome 10 with five other closely related genes. There is a pseudogene for this gene on chromosome 13. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Aug 2012]	ovarian cancer; Alzheimer's disease ; Myocardial Infarction	Mice homozygous for a knock-out allele exhibit altered response to vesicular stomatitis virus (VSV) infection.	Interferon alpha/beta signaling	GO:0002376;immune system process;IEA|GO:0009615;response to virus;IMP|GO:0016032;viral process;IEA|GO:0019060;intracellular transport of viral protein in host cell;IDA|GO:0032091;negative regulation of protein binding;IDA|GO:0045070;positive regulation of viral genome replication;IDA|GO:0045071;negative regulation of viral genome replication;IMP|GO:0045087;innate immune response;IEA|GO:0050688;regulation of defense response to virus;IEA|GO:0050689;negative regulation of defense response to virus by host;IDA|GO:0051097;negative regulation of helicase activity;IDA|GO:0051607;defense response to virus;IEA|GO:0060337;type I interferon signaling pathway;TAS|GO:0071357;cellular response to type I interferon;IDA|GO:0071360;cellular response to exogenous dsRNA;IDA	GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0043657;host cell;IEA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/IFIT1			https://www.ncbi.nlm.nih.gov/omim/?term=147690	http://www.informatics.jax.org/searchtool/Search.do?query=IFIT1&submit=Quick%0D%15481ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IFIT1
10_101.305_148.305	Chr10:78740262-120743937	1.191	IFIT1B	ENSG00000204010	interferon induced protein with tetratricopeptide repeats 1B	chr10:91137813-91144962			Mice homozygous for a knock-out allele exhibit altered response to vesicular stomatitis virus (VSV) infection.		GO:0051607;defense response to virus;IBA		GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/IFIT1B				http://www.informatics.jax.org/searchtool/Search.do?query=IFIT1B&submit=Quick%0D%17184ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IFIT1B
10_101.305_148.305	Chr10:78740262-120743937	1.191	IFIT2	ENSG00000119922	interferon induced protein with tetratricopeptide repeats 2	chr10:91061712-91069033		Alzheimer's disease 	Mice homozygous for a knock-out allele exhibit increased susuceptibility to VSV infection with increased lethality and brain viral titer.	Interferon alpha/beta signaling	GO:0002376;immune system process;IEA|GO:0006915;apoptotic process;IEA|GO:0008637;apoptotic mitochondrial changes;TAS|GO:0009615;response to virus;IMP|GO:0032091;negative regulation of protein binding;IDA|GO:0035457;cellular response to interferon-alpha;IEA|GO:0043065;positive regulation of apoptotic process;IDA|GO:0045087;innate immune response;IEA|GO:0051607;defense response to virus;IEA|GO:0060337;type I interferon signaling pathway;TAS	GO:0005737;cytoplasm;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005829;cytosol;TAS	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/IFIT2	https://www.uniprot.org/uniprot/P09913		https://www.ncbi.nlm.nih.gov/omim/?term=147040	http://www.informatics.jax.org/searchtool/Search.do?query=IFIT2&submit=Quick%0D%5138ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IFIT2
10_101.305_148.305	Chr10:78740262-120743937	1.191	IFIT3	ENSG00000119917	interferon induced protein with tetratricopeptide repeats 3	chr10:91087651-91100728		Alzheimer's disease 	 	Interferon alpha/beta signaling	GO:0002376;immune system process;IEA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0009615;response to virus;IMP|GO:0035457;cellular response to interferon-alpha;IEA|GO:0043066;negative regulation of apoptotic process;IDA|GO:0045087;innate immune response;IEA|GO:0051607;defense response to virus;IEA|GO:0060337;type I interferon signaling pathway;TAS	GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IDA|GO:0005829;cytosol;TAS	GO:0003674;molecular_function;ND|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/IFIT3	https://www.uniprot.org/uniprot/O14879		https://www.ncbi.nlm.nih.gov/omim/?term=604650	http://www.informatics.jax.org/searchtool/Search.do?query=IFIT3&submit=Quick%0D%5136ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IFIT3
10_101.305_148.305	Chr10:78740262-120743937	1.191	IFIT5	ENSG00000152778	interferon induced protein with tetratricopeptide repeats 5	chr10:91174343-91180758		Alzheimer's disease 	 		GO:0002376;immune system process;IEA|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IMP|GO:0045071;negative regulation of viral genome replication;IDA|GO:0045087;innate immune response;IEA|GO:0051607;defense response to virus;IEA	GO:0005886;plasma membrane;IDA|GO:0008385;IkappaB kinase complex;IMP|GO:0015629;actin cytoskeleton;IDA|GO:0016020;membrane;IEA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0045177;apical part of cell;IDA	GO:0000049;tRNA binding;IDA|GO:0000339;RNA cap binding;IDA|GO:0003690;double-stranded DNA binding;IDA|GO:0003723;RNA binding;IDA|GO:0003727;single-stranded RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008266;poly(U) RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/IFIT5	https://www.uniprot.org/uniprot/Q13325		https://www.ncbi.nlm.nih.gov/omim/?term=616135	http://www.informatics.jax.org/searchtool/Search.do?query=IFIT5&submit=Quick%0D%9590ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IFIT5
22_4.194_23.194	Chr22:17733575-25291782	0.374	IGLC1	ENSG00000211675	immunoglobulin lambda constant 1	chr22:23237555-23238014			Knock-in mice homozygous for a PGK-neo insertion and a serine codon mutation show altered kappa and lambda B cell number. Knock-in mice heterozygous for the same PGK-neo insertion and a valine mutation show abnormal immunoglobulin light chain V-J joiningwhile homozygotes show reduced B cell number.					http://www.genecards.org/index.php?path=/Search/keyword/IGLC1			https://www.ncbi.nlm.nih.gov/omim/?term=147220	http://www.informatics.jax.org/searchtool/Search.do?query=IGLC1&submit=Quick%0D%17823ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGLC1
22_4.194_23.194	Chr22:17733575-25291782	0.374	IGLC2	ENSG00000211677	immunoglobulin lambda constant 2	chr22:23243156-23243617					GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA	GO:0003823;antigen binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/IGLC2				http://www.informatics.jax.org/searchtool/Search.do?query=IGLC2&submit=Quick%0D%17825ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGLC2
22_4.194_23.194	Chr22:17733575-25291782	0.374	IGLC3	ENSG00000211679	immunoglobulin lambda constant 3 (Kern-Oz+ marker)	chr22:23248512-23248973					GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IDA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA	GO:0003823;antigen binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/IGLC3				http://www.informatics.jax.org/searchtool/Search.do?query=IGLC3&submit=Quick%0D%17827ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGLC3
22_4.194_23.194	Chr22:17733575-25291782	0.374	IGLC7	ENSG00000211685	immunoglobulin lambda constant 7	chr22:23264766-23265203								http://www.genecards.org/index.php?path=/Search/keyword/IGLC7				http://www.informatics.jax.org/searchtool/Search.do?query=IGLC7&submit=Quick%0D%17832ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGLC7
22_4.194_23.194	Chr22:17733575-25291782	0.374	IGLJ1	ENSG00000211674	immunoglobulin lambda joining 1	chr22:23235872-23235998						GO:0005576;extracellular region;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/IGLJ1				http://www.informatics.jax.org/searchtool/Search.do?query=IGLJ1&submit=Quick%0D%17822ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGLJ1
22_4.194_23.194	Chr22:17733575-25291782	0.374	IGLJ2	ENSG00000211676	immunoglobulin lambda joining 2	chr22:23241661-23241835								http://www.genecards.org/index.php?path=/Search/keyword/IGLJ2				http://www.informatics.jax.org/searchtool/Search.do?query=IGLJ2&submit=Quick%0D%17824ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGLJ2
22_4.194_23.194	Chr22:17733575-25291782	0.374	IGLJ3	ENSG00000211678	immunoglobulin lambda joining 3	chr22:23247030-23247205								http://www.genecards.org/index.php?path=/Search/keyword/IGLJ3				http://www.informatics.jax.org/searchtool/Search.do?query=IGLJ3&submit=Quick%0D%17826ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGLJ3
22_4.194_23.194	Chr22:17733575-25291782	0.374	IGLJ4	ENSG00000211680	immunoglobulin lambda joining 4 (non-functional)	chr22:23252744-23252776								http://www.genecards.org/index.php?path=/Search/keyword/IGLJ4				http://www.informatics.jax.org/searchtool/Search.do?query=IGLJ4&submit=Quick%0D%17828ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGLJ4
22_4.194_23.194	Chr22:17733575-25291782	0.374	IGLJ5	ENSG00000211681		chr22:23256408-23256479								http://www.genecards.org/index.php?path=/Search/keyword/IGLJ5				http://www.informatics.jax.org/searchtool/Search.do?query=IGLJ5&submit=Quick%0D%17829ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGLJ5
22_4.194_23.194	Chr22:17733575-25291782	0.374	IGLJ6	ENSG00000211682		chr22:23260304-23260373								http://www.genecards.org/index.php?path=/Search/keyword/IGLJ6				http://www.informatics.jax.org/searchtool/Search.do?query=IGLJ6&submit=Quick%0D%17830ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGLJ6
22_4.194_23.194	Chr22:17733575-25291782	0.374	IGLJ7	ENSG00000211684		chr22:23263562-23263607								http://www.genecards.org/index.php?path=/Search/keyword/IGLJ7				http://www.informatics.jax.org/searchtool/Search.do?query=IGLJ7&submit=Quick%0D%17831ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGLJ7
22_4.194_23.194	Chr22:17733575-25291782	0.374	IGLL1	ENSG00000128322	immunoglobulin lambda like polypeptide 1	chr22:23915312-23922495	The preB cell receptor is found on the surface of proB and preB cells, where it is involved in transduction of signals for cellular proliferation, differentiation from the proB cell to the preB cell stage, allelic exclusion at the Ig heavy chain gene locus, and promotion of Ig light chain gene rearrangements. The preB cell receptor is composed of a membrane-bound Ig mu heavy chain in association with a heterodimeric surrogate light chain. This gene encodes one of the surrogate light chain subunits and is a member of the immunoglobulin gene superfamily. This gene does not undergo rearrangement. Mutations in this gene can result in B cell deficiency and agammaglobulinemia, an autosomal recessive disease in which few or no gamma globulins or antibodies are made. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	Cholesterol; height; Migraine without Aura	Mice homozygous for a knock-out allele exhibit spleen hypoplasia, a leaky blockade of B cell development at the pre-B stage, and decreased IgG levels in response to a T-cell dependent antigen.	Cell surface interactions at the vascular wall	GO:0006910;phagocytosis, recognition;IBA|GO:0006911;phagocytosis, engulfment;IBA|GO:0006955;immune response;NAS|GO:0006958;complement activation, classical pathway;IBA|GO:0042742;defense response to bacterium;IBA|GO:0045087;innate immune response;IBA|GO:0050853;B cell receptor signaling pathway;IBA|GO:0050871;positive regulation of B cell activation;IBA|GO:0050900;leukocyte migration;TAS	GO:0005576;extracellular region;TAS|GO:0009897;external side of plasma membrane;IBA|GO:0016020;membrane;NAS|GO:0042571;immunoglobulin complex, circulating;IBA|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IBA	GO:0003823;antigen binding;IBA|GO:0034987;immunoglobulin receptor binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/IGLL1	https://www.uniprot.org/uniprot/P15814	https://hpo.jax.org/app/browse/search?q=IGLL1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=146770	http://www.informatics.jax.org/searchtool/Search.do?query=IGLL1&submit=Quick%0D%6128ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGLL1
22_4.194_23.194	Chr22:17733575-25291782	0.374	IGLL5	ENSG00000254709	immunoglobulin lambda like polypeptide 5	chr22:23229960-23238287	This gene encodes one of the immunoglobulin lambda-like polypeptides. It is located within the immunoglobulin lambda locus but it does not require somatic rearrangement for expression. The first exon of this gene is unrelated to immunoglobulin variable genes; the second and third exons are the immunoglobulin lambda joining 1 and the immunoglobulin lambda constant 1 gene segments. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]		Mice homozygous for a knock-out allele exhibit spleen hypoplasia, a leaky blockade of B cell development at the pre-B stage, and decreased IgG levels in response to a T-cell dependent antigen.		GO:0006910;phagocytosis, recognition;IBA|GO:0006911;phagocytosis, engulfment;IBA|GO:0006958;complement activation, classical pathway;IBA|GO:0042742;defense response to bacterium;IBA|GO:0045087;innate immune response;IBA|GO:0050853;B cell receptor signaling pathway;IBA|GO:0050871;positive regulation of B cell activation;IBA	GO:0005576;extracellular region;IEA|GO:0009897;external side of plasma membrane;IBA|GO:0042571;immunoglobulin complex, circulating;IBA|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IBA	GO:0003823;antigen binding;IBA|GO:0034987;immunoglobulin receptor binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/IGLL5				http://www.informatics.jax.org/searchtool/Search.do?query=IGLL5&submit=Quick%0D%20078ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGLL5
22_4.194_23.194	Chr22:17733575-25291782	0.374	IGLV1-36	ENSG00000273737		chr22:22786296-22786802					GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0002377;immunoglobulin production;IBA|GO:0006955;immune response;IBA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IBA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA	GO:0003823;antigen binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/IGLV1-36				http://www.informatics.jax.org/searchtool/Search.do?query=IGLV1-36&submit=Quick%0D%20979ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGLV1-36
22_4.194_23.194	Chr22:17733575-25291782	0.374	IGLV1-40	ENSG00000274575		chr22:22764098-22764614				Antigen activates B Cell Receptor (BCR) leading to generation of second messengers	GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0006508;proteolysis;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0006955;immune response;NAS|GO:0006956;complement activation;TAS|GO:0006958;complement activation, classical pathway;TAS|GO:0030449;regulation of complement activation;TAS|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0050776;regulation of immune response;TAS|GO:0050900;leukocyte migration;TAS	GO:0005576;extracellular region;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA	GO:0003823;antigen binding;IEA|GO:0004252;serine-type endopeptidase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/IGLV1-40				http://www.informatics.jax.org/searchtool/Search.do?query=IGLV1-40&submit=Quick%0D%21146ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGLV1-40
22_4.194_23.194	Chr22:17733575-25291782	0.374	IGLV1-44	ENSG00000274854		chr22:22735135-22735715				Antigen activates B Cell Receptor (BCR) leading to generation of second messengers	GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0006508;proteolysis;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0006955;immune response;NAS|GO:0006956;complement activation;TAS|GO:0006958;complement activation, classical pathway;TAS|GO:0030449;regulation of complement activation;TAS|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0050776;regulation of immune response;TAS|GO:0050900;leukocyte migration;TAS	GO:0005576;extracellular region;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA	GO:0003823;antigen binding;IEA|GO:0004252;serine-type endopeptidase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/IGLV1-44				http://www.informatics.jax.org/searchtool/Search.do?query=IGLV1-44&submit=Quick%0D%21216ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGLV1-44
22_4.194_23.194	Chr22:17733575-25291782	0.374	IGLV1-47	ENSG00000211648		chr22:22712087-22712608				Antigen activates B Cell Receptor (BCR) leading to generation of second messengers	GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0006508;proteolysis;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0006955;immune response;NAS|GO:0006956;complement activation;TAS|GO:0006958;complement activation, classical pathway;TAS|GO:0030449;regulation of complement activation;TAS|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0050776;regulation of immune response;TAS|GO:0050900;leukocyte migration;TAS	GO:0005576;extracellular region;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA	GO:0003823;antigen binding;IEA|GO:0004252;serine-type endopeptidase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/IGLV1-47				http://www.informatics.jax.org/searchtool/Search.do?query=IGLV1-47&submit=Quick%0D%17797ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGLV1-47
22_4.194_23.194	Chr22:17733575-25291782	0.374	IGLV1-50	ENSG00000211645		chr22:22681658-22682172					GO:0002377;immunoglobulin production;IBA|GO:0006955;immune response;IBA	GO:0005615;extracellular space;IBA		http://www.genecards.org/index.php?path=/Search/keyword/IGLV1-50				http://www.informatics.jax.org/searchtool/Search.do?query=IGLV1-50&submit=Quick%0D%17795ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGLV1-50
22_4.194_23.194	Chr22:17733575-25291782	0.374	IGLV1-51	ENSG00000211644		chr22:22676828-22677336				Antigen activates B Cell Receptor (BCR) leading to generation of second messengers	GO:0006508;proteolysis;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0006955;immune response;NAS|GO:0006956;complement activation;TAS|GO:0006958;complement activation, classical pathway;TAS|GO:0030449;regulation of complement activation;TAS|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0050776;regulation of immune response;TAS|GO:0050900;leukocyte migration;TAS	GO:0005576;extracellular region;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0003823;antigen binding;IEA|GO:0004252;serine-type endopeptidase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/IGLV1-51				http://www.informatics.jax.org/searchtool/Search.do?query=IGLV1-51&submit=Quick%0D%17794ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGLV1-51
22_4.194_23.194	Chr22:17733575-25291782	0.374	IGLV10-54	ENSG00000211642		chr22:22569184-22569660					GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0002377;immunoglobulin production;IBA|GO:0006955;immune response;IBA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IBA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA	GO:0003823;antigen binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/IGLV10-54				http://www.informatics.jax.org/searchtool/Search.do?query=IGLV10-54&submit=Quick%0D%17792ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGLV10-54
22_4.194_23.194	Chr22:17733575-25291782	0.374	IGLV11-55	ENSG00000211641		chr22:22556057-22556600					GO:0002377;immunoglobulin production;IBA|GO:0006955;immune response;IBA	GO:0005615;extracellular space;IBA		http://www.genecards.org/index.php?path=/Search/keyword/IGLV11-55				http://www.informatics.jax.org/searchtool/Search.do?query=IGLV11-55&submit=Quick%0D%17791ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGLV11-55
22_4.194_23.194	Chr22:17733575-25291782	0.374	IGLV2-11	ENSG00000211668		chr22:23134980-23135496				Antigen activates B Cell Receptor (BCR) leading to generation of second messengers	GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0006508;proteolysis;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0006955;immune response;NAS|GO:0006956;complement activation;TAS|GO:0006958;complement activation, classical pathway;TAS|GO:0030449;regulation of complement activation;TAS|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0050776;regulation of immune response;TAS|GO:0050900;leukocyte migration;TAS	GO:0005576;extracellular region;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0003823;antigen binding;IEA|GO:0004252;serine-type endopeptidase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/IGLV2-11				http://www.informatics.jax.org/searchtool/Search.do?query=IGLV2-11&submit=Quick%0D%17817ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGLV2-11
22_4.194_23.194	Chr22:17733575-25291782	0.374	IGLV2-14	ENSG00000211666	immunoglobulin lambda variable 2-14	chr22:23101189-23101707				Antigen activates B Cell Receptor (BCR) leading to generation of second messengers	GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0006508;proteolysis;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0006955;immune response;NAS|GO:0006956;complement activation;TAS|GO:0006958;complement activation, classical pathway;TAS|GO:0030449;regulation of complement activation;TAS|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0050776;regulation of immune response;TAS|GO:0050900;leukocyte migration;TAS	GO:0005576;extracellular region;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0003823;antigen binding;IEA|GO:0004252;serine-type endopeptidase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/IGLV2-14				http://www.informatics.jax.org/searchtool/Search.do?query=IGLV2-14&submit=Quick%0D%17815ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGLV2-14
22_4.194_23.194	Chr22:17733575-25291782	0.374	IGLV2-18	ENSG00000211664		chr22:23077095-23077584					GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0002377;immunoglobulin production;IBA|GO:0006955;immune response;IBA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IBA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA	GO:0003823;antigen binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/IGLV2-18				http://www.informatics.jax.org/searchtool/Search.do?query=IGLV2-18&submit=Quick%0D%17813ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGLV2-18
22_4.194_23.194	Chr22:17733575-25291782	0.374	IGLV2-23	ENSG00000211660		chr22:23040274-23040892				Antigen activates B Cell Receptor (BCR) leading to generation of second messengers	GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0006508;proteolysis;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0006955;immune response;NAS|GO:0006956;complement activation;TAS|GO:0006958;complement activation, classical pathway;TAS|GO:0030449;regulation of complement activation;TAS|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0050776;regulation of immune response;TAS|GO:0050900;leukocyte migration;TAS	GO:0005576;extracellular region;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA	GO:0003823;antigen binding;IEA|GO:0004252;serine-type endopeptidase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/IGLV2-23				http://www.informatics.jax.org/searchtool/Search.do?query=IGLV2-23&submit=Quick%0D%17809ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGLV2-23
22_4.194_23.194	Chr22:17733575-25291782	0.374	IGLV2-33	ENSG00000281345		chr22:22930626-22931145					GO:0002377;immunoglobulin production;IBA|GO:0006955;immune response;IBA	GO:0005615;extracellular space;IBA		http://www.genecards.org/index.php?path=/Search/keyword/IGLV2-33				http://www.informatics.jax.org/searchtool/Search.do?query=IGLV2-33&submit=Quick%0D%22296ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGLV2-33
22_4.194_23.194	Chr22:17733575-25291782	0.374	IGLV2-8	ENSG00000278196		chr22:23165153-23165787				Antigen activates B Cell Receptor (BCR) leading to generation of second messengers	GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0006508;proteolysis;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0006955;immune response;NAS|GO:0006956;complement activation;TAS|GO:0006958;complement activation, classical pathway;TAS|GO:0030449;regulation of complement activation;TAS|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0050776;regulation of immune response;TAS|GO:0050900;leukocyte migration;TAS	GO:0005576;extracellular region;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA	GO:0003823;antigen binding;IEA|GO:0004252;serine-type endopeptidase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/IGLV2-8				http://www.informatics.jax.org/searchtool/Search.do?query=IGLV2-8&submit=Quick%0D%21986ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGLV2-8
22_4.194_23.194	Chr22:17733575-25291782	0.374	IGLV3-1	ENSG00000211673		chr22:23222886-23223576				Antigen activates B Cell Receptor (BCR) leading to generation of second messengers	GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0006508;proteolysis;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0006955;immune response;NAS|GO:0006956;complement activation;TAS|GO:0006958;complement activation, classical pathway;TAS|GO:0030449;regulation of complement activation;TAS|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0050776;regulation of immune response;TAS|GO:0050900;leukocyte migration;TAS	GO:0005576;extracellular region;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA	GO:0003823;antigen binding;IEA|GO:0004252;serine-type endopeptidase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/IGLV3-1				http://www.informatics.jax.org/searchtool/Search.do?query=IGLV3-1&submit=Quick%0D%17821ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGLV3-1
22_4.194_23.194	Chr22:17733575-25291782	0.374	IGLV3-10	ENSG00000211669		chr22:23154244-23154782					GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0002377;immunoglobulin production;IBA|GO:0006955;immune response;IBA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IBA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA	GO:0003823;antigen binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/IGLV3-10				http://www.informatics.jax.org/searchtool/Search.do?query=IGLV3-10&submit=Quick%0D%17818ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGLV3-10
22_4.194_23.194	Chr22:17733575-25291782	0.374	IGLV3-12	ENSG00000211667		chr22:23114317-23115079					GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0002377;immunoglobulin production;IBA|GO:0006955;immune response;IBA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IBA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA	GO:0003823;antigen binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/IGLV3-12				http://www.informatics.jax.org/searchtool/Search.do?query=IGLV3-12&submit=Quick%0D%17816ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGLV3-12
22_4.194_23.194	Chr22:17733575-25291782	0.374	IGLV3-16	ENSG00000211665		chr22:23089870-23090398					GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0002377;immunoglobulin production;IBA|GO:0006955;immune response;IBA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IBA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA	GO:0003823;antigen binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/IGLV3-16				http://www.informatics.jax.org/searchtool/Search.do?query=IGLV3-16&submit=Quick%0D%17814ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGLV3-16
22_4.194_23.194	Chr22:17733575-25291782	0.374	IGLV3-19	ENSG00000211663		chr22:23063108-23063630				Antigen activates B Cell Receptor (BCR) leading to generation of second messengers	GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0006508;proteolysis;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0006955;immune response;NAS|GO:0006956;complement activation;TAS|GO:0006958;complement activation, classical pathway;TAS|GO:0030449;regulation of complement activation;TAS|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0050776;regulation of immune response;TAS|GO:0050900;leukocyte migration;TAS	GO:0005576;extracellular region;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0003823;antigen binding;IEA|GO:0004252;serine-type endopeptidase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/IGLV3-19				http://www.informatics.jax.org/searchtool/Search.do?query=IGLV3-19&submit=Quick%0D%17812ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGLV3-19
22_4.194_23.194	Chr22:17733575-25291782	0.374	IGLV3-21	ENSG00000211662	immunoglobulin lambda variable 3-21	chr22:23054174-23055688				Antigen activates B Cell Receptor (BCR) leading to generation of second messengers	GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0006508;proteolysis;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0006955;immune response;NAS|GO:0006956;complement activation;TAS|GO:0006958;complement activation, classical pathway;TAS|GO:0030449;regulation of complement activation;TAS|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0050776;regulation of immune response;TAS|GO:0050900;leukocyte migration;TAS	GO:0005576;extracellular region;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA	GO:0003823;antigen binding;IEA|GO:0004252;serine-type endopeptidase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/IGLV3-21				http://www.informatics.jax.org/searchtool/Search.do?query=IGLV3-21&submit=Quick%0D%17811ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGLV3-21
22_4.194_23.194	Chr22:17733575-25291782	0.374	IGLV3-22	ENSG00000211661		chr22:23046750-23047307					GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0002377;immunoglobulin production;IBA|GO:0006955;immune response;IBA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IBA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA	GO:0003823;antigen binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/IGLV3-22				http://www.informatics.jax.org/searchtool/Search.do?query=IGLV3-22&submit=Quick%0D%17810ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGLV3-22
22_4.194_23.194	Chr22:17733575-25291782	0.374	IGLV3-25	ENSG00000211659	immunoglobulin lambda variable 3-25	chr22:23029190-23029735				Antigen activates B Cell Receptor (BCR) leading to generation of second messengers	GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0006508;proteolysis;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0006955;immune response;NAS|GO:0006956;complement activation;TAS|GO:0006958;complement activation, classical pathway;TAS|GO:0030449;regulation of complement activation;TAS|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0050776;regulation of immune response;TAS|GO:0050900;leukocyte migration;TAS	GO:0005576;extracellular region;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA|GO:0072562;blood microparticle;IDA	GO:0003823;antigen binding;IEA|GO:0004252;serine-type endopeptidase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/IGLV3-25				http://www.informatics.jax.org/searchtool/Search.do?query=IGLV3-25&submit=Quick%0D%17808ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGLV3-25
22_4.194_23.194	Chr22:17733575-25291782	0.374	IGLV3-27	ENSG00000211658		chr22:23010758-23011276				Antigen activates B Cell Receptor (BCR) leading to generation of second messengers	GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0006508;proteolysis;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0006955;immune response;NAS|GO:0006956;complement activation;TAS|GO:0006958;complement activation, classical pathway;TAS|GO:0030449;regulation of complement activation;TAS|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0050776;regulation of immune response;TAS|GO:0050900;leukocyte migration;TAS	GO:0005576;extracellular region;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA	GO:0003823;antigen binding;IEA|GO:0004252;serine-type endopeptidase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/IGLV3-27				http://www.informatics.jax.org/searchtool/Search.do?query=IGLV3-27&submit=Quick%0D%17807ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGLV3-27
22_4.194_23.194	Chr22:17733575-25291782	0.374	IGLV3-32	ENSG00000280866		chr22:22936998-22937501					GO:0002377;immunoglobulin production;IBA|GO:0006955;immune response;IBA	GO:0005615;extracellular space;IBA		http://www.genecards.org/index.php?path=/Search/keyword/IGLV3-32				http://www.informatics.jax.org/searchtool/Search.do?query=IGLV3-32&submit=Quick%0D%22248ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGLV3-32
22_4.194_23.194	Chr22:17733575-25291782	0.374	IGLV3-9	ENSG00000211670		chr22:23161507-23162253					GO:0002377;immunoglobulin production;IBA|GO:0006955;immune response;IBA	GO:0005615;extracellular space;IBA		http://www.genecards.org/index.php?path=/Search/keyword/IGLV3-9				http://www.informatics.jax.org/searchtool/Search.do?query=IGLV3-9&submit=Quick%0D%17819ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGLV3-9
22_4.194_23.194	Chr22:17733575-25291782	0.374	IGLV4-3	ENSG00000211672		chr22:23213686-23214214					GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0002377;immunoglobulin production;IBA|GO:0006955;immune response;IBA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IBA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA	GO:0003823;antigen binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/IGLV4-3				http://www.informatics.jax.org/searchtool/Search.do?query=IGLV4-3&submit=Quick%0D%17820ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGLV4-3
22_4.194_23.194	Chr22:17733575-25291782	0.374	IGLV4-60	ENSG00000211639		chr22:22516592-22517074					GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0002377;immunoglobulin production;IBA|GO:0006955;immune response;IBA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IBA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA	GO:0003823;antigen binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/IGLV4-60				http://www.informatics.jax.org/searchtool/Search.do?query=IGLV4-60&submit=Quick%0D%17789ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGLV4-60
22_4.194_23.194	Chr22:17733575-25291782	0.374	IGLV4-69	ENSG00000211637		chr22:22385332-22385870					GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0002377;immunoglobulin production;IBA|GO:0006955;immune response;IBA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IBA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA	GO:0003823;antigen binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/IGLV4-69				http://www.informatics.jax.org/searchtool/Search.do?query=IGLV4-69&submit=Quick%0D%17787ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGLV4-69
22_4.194_23.194	Chr22:17733575-25291782	0.374	IGLV5-37	ENSG00000281471		chr22:22781876-22782371					GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0002377;immunoglobulin production;IBA|GO:0006955;immune response;IBA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IBA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA	GO:0003823;antigen binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/IGLV5-37				http://www.informatics.jax.org/searchtool/Search.do?query=IGLV5-37&submit=Quick%0D%22305ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGLV5-37
22_4.194_23.194	Chr22:17733575-25291782	0.374	IGLV5-45	ENSG00000281145		chr22:22730355-22730874								http://www.genecards.org/index.php?path=/Search/keyword/IGLV5-45				http://www.informatics.jax.org/searchtool/Search.do?query=IGLV5-45&submit=Quick%0D%22274ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGLV5-45
22_4.194_23.194	Chr22:17733575-25291782	0.374	IGLV5-48	ENSG00000211647	immunoglobulin lambda variable 5-48 (non-functional)	chr22:22707289-22707781					GO:0002377;immunoglobulin production;IBA|GO:0006955;immune response;IBA	GO:0005615;extracellular space;IBA		http://www.genecards.org/index.php?path=/Search/keyword/IGLV5-48				http://www.informatics.jax.org/searchtool/Search.do?query=IGLV5-48&submit=Quick%0D%17796ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGLV5-48
22_4.194_23.194	Chr22:17733575-25291782	0.374	IGLV5-52	ENSG00000211643		chr22:22673082-22673581					GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0002377;immunoglobulin production;IBA|GO:0006955;immune response;IBA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IBA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA	GO:0003823;antigen binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/IGLV5-52				http://www.informatics.jax.org/searchtool/Search.do?query=IGLV5-52&submit=Quick%0D%17793ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGLV5-52
22_4.194_23.194	Chr22:17733575-25291782	0.374	IGLV6-57	ENSG00000211640		chr22:22550113-22550860				Antigen activates B Cell Receptor (BCR) leading to generation of second messengers	GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0006508;proteolysis;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0006955;immune response;NAS|GO:0006956;complement activation;TAS|GO:0006958;complement activation, classical pathway;TAS|GO:0030449;regulation of complement activation;TAS|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0050776;regulation of immune response;TAS|GO:0050900;leukocyte migration;TAS	GO:0005576;extracellular region;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0003823;antigen binding;IEA|GO:0004252;serine-type endopeptidase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/IGLV6-57				http://www.informatics.jax.org/searchtool/Search.do?query=IGLV6-57&submit=Quick%0D%17790ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGLV6-57
22_4.194_23.194	Chr22:17733575-25291782	0.374	IGLV7-43	ENSG00000278293		chr22:22749356-22749827				Antigen activates B Cell Receptor (BCR) leading to generation of second messengers	GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0006508;proteolysis;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0006955;immune response;NAS|GO:0006956;complement activation;TAS|GO:0006958;complement activation, classical pathway;TAS|GO:0030449;regulation of complement activation;TAS|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0050776;regulation of immune response;TAS|GO:0050900;leukocyte migration;TAS	GO:0005576;extracellular region;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA	GO:0003823;antigen binding;IEA|GO:0004252;serine-type endopeptidase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/IGLV7-43				http://www.informatics.jax.org/searchtool/Search.do?query=IGLV7-43&submit=Quick%0D%22012ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGLV7-43
22_4.194_23.194	Chr22:17733575-25291782	0.374	IGLV7-46	ENSG00000211649		chr22:22723982-22724454					GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0002377;immunoglobulin production;IBA|GO:0006955;immune response;IBA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IBA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA	GO:0003823;antigen binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/IGLV7-46				http://www.informatics.jax.org/searchtool/Search.do?query=IGLV7-46&submit=Quick%0D%17798ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGLV7-46
22_4.194_23.194	Chr22:17733575-25291782	0.374	IGLV8-61	ENSG00000211638		chr22:22453110-22453622		rheumatoid arthritis			GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0002377;immunoglobulin production;IBA|GO:0006955;immune response;IBA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IBA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA	GO:0003823;antigen binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/IGLV8-61				http://www.informatics.jax.org/searchtool/Search.do?query=IGLV8-61&submit=Quick%0D%17788ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGLV8-61
22_4.194_23.194	Chr22:17733575-25291782	0.374	IGLV9-49	ENSG00000223350		chr22:22697539-22698084					GO:0002250;adaptive immune response;IEA|GO:0002376;immune system process;IEA|GO:0002377;immunoglobulin production;IBA|GO:0006955;immune response;IBA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IBA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA	GO:0003823;antigen binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/IGLV9-49				http://www.informatics.jax.org/searchtool/Search.do?query=IGLV9-49&submit=Quick%0D%18466ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IGLV9-49
2_252.744_266.744	Chr2:235528138-241561721	0.223	ILKAP	ENSG00000132323	ILK associated serine/threonine phosphatase	chr2:239079042-239112370	The protein encoded by this gene is a protein serine/threonine phosphatase of the PP2C family. This protein can interact with integrin-linked kinase (ILK/ILK1), a regulator of integrin mediated signaling, and regulate the kinase activity of ILK. Through the interaction with ILK, this protein may selectively affect the signaling process of ILK-mediated glycogen synthase kinase 3 beta (GSK3beta), and thus participate in Wnt signaling pathway. [provided by RefSeq, Jul 2008]	Phospholipids	Mice homozygous for a null gene trap insertion exhibit enhanced motor coordination, and male homozygous mice exhibit increased cholesterol levels.		GO:0006470;protein dephosphorylation;IEA|GO:0007229;integrin-mediated signaling pathway;IEA|GO:0016310;phosphorylation;IEA	GO:0005737;cytoplasm;IEA	GO:0003824;catalytic activity;IEA|GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004722;protein serine/threonine phosphatase activity;IEA|GO:0005515;protein binding;IPI|GO:0016301;kinase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0043169;cation binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ILKAP	https://www.uniprot.org/uniprot/Q9H0C8			http://www.informatics.jax.org/searchtool/Search.do?query=ILKAP&submit=Quick%0D%6650ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ILKAP
10_101.305_148.305	Chr10:78740262-120743937	1.191	INA	ENSG00000148798	internexin neuronal intermediate filament protein alpha	chr10:105036920-105050108	Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and they functionally maintain the neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene is a member of the intermediate filament family and is involved in the morphogenesis of neurons. [provided by RefSeq, Jun 2009]	Alzheimer's disease 	Homozygous mice are healthy and viable, and do not exhibit any obvious abnormalities; no defects in the nervous system were detected, including brain development, axon outgrowth, or guidance.		GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0021762;substantia nigra development;IEP|GO:0030154;cell differentiation;IEA|GO:0045104;intermediate filament cytoskeleton organization;IEA|GO:0060052;neurofilament cytoskeleton organization;IEA	GO:0005615;extracellular space;IDA|GO:0005654;nucleoplasm;IDA|GO:0005882;intermediate filament;IEA|GO:0005883;neurofilament;TAS|GO:0031965;nuclear membrane;IDA|GO:0036464;cytoplasmic ribonucleoprotein granule;IDA|GO:0043209;myelin sheath;IEA|GO:0045111;intermediate filament cytoskeleton;IDA	GO:0005198;structural molecule activity;IEA|GO:0005200;structural constituent of cytoskeleton;TAS	http://www.genecards.org/index.php?path=/Search/keyword/INA	https://www.uniprot.org/uniprot/Q16352		https://www.ncbi.nlm.nih.gov/omim/?term=605338	http://www.informatics.jax.org/searchtool/Search.do?query=INA&submit=Quick%0D%9159ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=INA
2_252.744_266.744	Chr2:235528138-241561721	0.223	IQCA1	ENSG00000132321	IQ motif containing with AAA domain 1	chr2:237232794-237416185	The protein encoded by this gene is a member of the ATPases Associated with diverse cellular Activities (AAA) superfamily. Members of this superfamily, found in all organisms, participate in a large number of cellular processes and contain the ATPase module consisting of an alpha-beta-alpha core domain and the Walker A and B motifs of the P-loop NTPases. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]		 				GO:0000166;nucleotide binding;IEA|GO:0005524;ATP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/IQCA1	https://www.uniprot.org/uniprot/Q86XH1			http://www.informatics.jax.org/searchtool/Search.do?query=IQCA1&submit=Quick%0D%6649ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=IQCA1
10_101.305_148.305	Chr10:78740262-120743937	1.191	ITPRIP	ENSG00000148841	inositol 1,4,5-trisphosphate receptor interacting protein	chr10:106071894-106098162	This gene encodes a membrane-associated protein that binds the inositol 1,4,5-trisphosphate receptor (ITPR). The encoded protein enhances the sensitivity of ITPR to intracellular calcium signaling. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]	Alzheimer's disease ; Tobacco Use Disorder	Mice homozygous for a null mutation are grossly normal, but MEF and neuronal cells show increased susceptibility to induced cell death due to increase in death-associated protein kinase (DAPK) activity.			GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IDA		http://www.genecards.org/index.php?path=/Search/keyword/ITPRIP	https://www.uniprot.org/uniprot/Q8IWB1			http://www.informatics.jax.org/searchtool/Search.do?query=ITPRIP&submit=Quick%0D%9168ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ITPRIP
10_101.305_148.305	Chr10:78740262-120743937	1.191	KAZALD1	ENSG00000107821	Kazal type serine peptidase inhibitor domain 1	chr10:102821598-102827888	This gene encodes a secreted member of the insulin growth factor-binding protein (IGFBP) superfamily. The protein contains an insulin growth factor-binding domain in its N-terminal region, a Kazal-type serine protease inhibitor and follistatin-like domain in its central region, and an immunoglobulin-like domain in its C-terminal region. Studies of the mouse ortholog suggest that this protein may function in bone development and bone regeneration. This gene is hypomethylated and over-expressed in high-grade glioma compared to low-grade glioma, and thus the hypomethylated gene may be associated with cell proliferation and the shorter survival of patients with high-grade glioma. It is also one of numerous genes found to be deleted in a novel 5.54 Mb interstitial deletion, which is associated with multiple congenital anomalies. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]	Alzheimer's disease 	 		GO:0001503;ossification;IEA|GO:0001558;regulation of cell growth;IEA|GO:0007275;multicellular organism development;IEA|GO:0030154;cell differentiation;IEA|GO:0030198;extracellular matrix organization;IEA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005614;interstitial matrix;IEA	GO:0005520;insulin-like growth factor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KAZALD1	https://www.uniprot.org/uniprot/Q96I82		https://www.ncbi.nlm.nih.gov/omim/?term=609208	http://www.informatics.jax.org/searchtool/Search.do?query=KAZALD1&submit=Quick%0D%3643ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KAZALD1
10_101.305_148.305	Chr10:78740262-120743937	1.191	KCNIP2	ENSG00000120049	potassium voltage-gated channel interacting protein 2	chr10:103585731-103603677	This gene encodes a member of the family of voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belongs to the recoverin branch of the EF-hand superfamily. Members of the KCNIP family are small calcium binding proteins. They all have EF-hand-like domains, and differ from each other in the N-terminus. They are integral subunit components of native Kv4 channel complexes. They may regulate A-type currents, and hence neuronal excitability, in response to changes in intracellular calcium. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified from this gene. [provided by RefSeq, Jul 2008]	Alzheimer's disease 	Mice homozygous for disruptions in this gene are susceptible to induced cardiac arrhythmias but are otherwise normal.	Phase 1 - inactivation of fast Na+ channels	GO:0005513;detection of calcium ion;TAS|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0006936;muscle contraction;NAS|GO:0007165;signal transduction;TAS|GO:0007268;chemical synaptic transmission;NAS|GO:0008016;regulation of heart contraction;TAS|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0045163;clustering of voltage-gated potassium channels;IDA|GO:0061337;cardiac conduction;TAS|GO:0071435;potassium ion export;IDA|GO:0071805;potassium ion transmembrane transport;IDA|GO:0086009;membrane repolarization;IDA|GO:0086013;membrane repolarization during cardiac muscle cell action potential;TAS|GO:0097623;potassium ion export across plasma membrane;IDA|GO:1901379;regulation of potassium ion transmembrane transport;ISS|GO:2001257;regulation of cation channel activity;TAS	GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0008076;voltage-gated potassium channel complex;IDA|GO:0016020;membrane;IEA|GO:0034705;potassium channel complex;TAS	GO:0005244;voltage-gated ion channel activity;IEA|GO:0005250;A-type (transient outward) potassium channel activity;TAS|GO:0005267;potassium channel activity;IEA|GO:0005509;calcium ion binding;TAS|GO:0005515;protein binding;IPI|GO:0015459;potassium channel regulator activity;IDA|GO:0044325;ion channel binding;IPI|GO:0046872;metal ion binding;IEA|GO:0046923;ER retention sequence binding;NAS|GO:0047485;protein N-terminus binding;IPI|GO:0086008;voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization;TAS	http://www.genecards.org/index.php?path=/Search/keyword/KCNIP2	https://www.uniprot.org/uniprot/Q9NS61		https://www.ncbi.nlm.nih.gov/omim/?term=604661	http://www.informatics.jax.org/searchtool/Search.do?query=KCNIP2&submit=Quick%0D%5154ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNIP2
10_101.305_148.305	Chr10:78740262-120743937	1.191	KCNK18	ENSG00000186795	potassium two pore domain channel subfamily K member 18	chr10:118957000-118969810	Potassium channels play a role in many cellular processes including maintenance of the action potential, muscle contraction, hormone secretion, osmotic regulation, and ion flow. This gene encodes a member of the superfamily of potassium channel proteins containing two pore-forming P domains and the encoded protein functions as an outward rectifying potassium channel. A mutation in this gene has been found to be associated with migraine with aura.[provided by RefSeq, Jan 2011]	smoking cessation; Alzheimer's disease ; Tobacco Use Disorder	Mice homozygous for an ENU-induced allele exhibit altered potassium conductance and neuron electrophysiology.	Phase 4 - resting membrane potential	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0071435;potassium ion export;IDA|GO:0071467;cellular response to pH;IDA|GO:0071805;potassium ion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IC|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005267;potassium channel activity;TAS|GO:0015269;calcium-activated potassium channel activity;IEA|GO:0015271;outward rectifier potassium channel activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/KCNK18			https://www.ncbi.nlm.nih.gov/omim/?term=613655	http://www.informatics.jax.org/searchtool/Search.do?query=KCNK18&submit=Quick%0D%15708ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNK18
10_101.305_148.305	Chr10:78740262-120743937	1.191	KCNMA1	ENSG00000156113	potassium calcium-activated channel subfamily M alpha 1	chr10:78629359-79398353	MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit, which is the product of this gene, and the modulatory beta subunit. Intracellular calcium regulates the physical association between the alpha and beta subunits. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]	Hyperparathyroidism, Secondary; Cholesterol; Alzheimer's disease ; Glucose; Heart Rate; Tobacco Use Disorder; Narcolepsy; Diabetic Nephropathies; Iron; Hypertension|Myocardial Infarction; Amyotrophic Lateral Sclerosis; Obesity; Fibrinogen; Hip; Myocardial Infarction; Blood Pressure; Lipoproteins, VLDL; Mortality; Cystatins; Alcoholism	Homozygous inactivation of this gene leads to cerebellar ataxia, Purkinje cell dysfunction, uneven gait patterns, bladder hyperactivity, urinary incontinence, abnormal colonic K+ secretion, and hearing impairment.	cGMP effects	GO:0001666;response to hypoxia;IDA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006813;potassium ion transport;IEA|GO:0006970;response to osmotic stress;IDA|GO:0030007;cellular potassium ion homeostasis;IDA|GO:0034465;response to carbon monoxide;IDA|GO:0034765;regulation of ion transmembrane transport;IEA|GO:0042391;regulation of membrane potential;IDA|GO:0043065;positive regulation of apoptotic process;IMP|GO:0045794;negative regulation of cell volume;IDA|GO:0051592;response to calcium ion;IDA|GO:0055085;transmembrane transport;IEA|GO:0060073;micturition;IDA|GO:0060083;smooth muscle contraction involved in micturition;IDA|GO:0071805;potassium ion transmembrane transport;IEA	GO:0005886;plasma membrane;TAS|GO:0005901;caveola;IDA|GO:0008076;voltage-gated potassium channel complex;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0016324;apical plasma membrane;IDA|GO:0070062;extracellular exosome;IDA	GO:0003779;actin binding;IDA|GO:0005216;ion channel activity;IEA|GO:0005244;voltage-gated ion channel activity;IEA|GO:0005249;voltage-gated potassium channel activity;IEA|GO:0005267;potassium channel activity;IEA|GO:0005515;protein binding;IPI|GO:0015269;calcium-activated potassium channel activity;IDA|GO:0046872;metal ion binding;IEA|GO:0060072;large conductance calcium-activated potassium channel activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KCNMA1	https://www.uniprot.org/uniprot/Q12791	https://hpo.jax.org/app/browse/search?q=KCNMA1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600150	http://www.informatics.jax.org/searchtool/Search.do?query=KCNMA1&submit=Quick%0D%9942ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KCNMA1
10_101.305_148.305	Chr10:78740262-120743937	1.191	KIF11	ENSG00000138160	kinesin family member 11	chr10:94353043-94415150	This gene encodes a motor protein that belongs to the kinesin-like protein family. Members of this protein family are known to be involved in various kinds of spindle dynamics. The function of this gene product includes chromosome positioning, centrosome separation and establishing a bipolar spindle during cell mitosis. [provided by RefSeq, Jul 2008]	Alzheimer's disease ; Type 2 diabetes; Diabetes mellitus type II|Diabetes Mellitus, Type 2; breast cancer; Alzheimer's Disease; diabetes, type 2	Deletion of Kif11 results in early embryonic lethality of homozygotes, with developmental growth arrest at E3.5.	Kinesins	GO:0000278;mitotic cell cycle;TAS|GO:0006890;retrograde vesicle-mediated transport, Golgi to ER;TAS|GO:0007018;microtubule-based movement;TAS|GO:0007049;cell cycle;IEA|GO:0007051;spindle organization;IMP|GO:0007052;mitotic spindle organization;TAS|GO:0007059;chromosome segregation;IBA|GO:0007100;mitotic centrosome separation;IEA|GO:0019886;antigen processing and presentation of exogenous peptide antigen via MHC class II;TAS|GO:0046602;regulation of mitotic centrosome separation;IMP|GO:0051225;spindle assembly;IEA|GO:0051301;cell division;IEA|GO:0090307;mitotic spindle assembly;IDA	GO:0000922;spindle pole;IEA|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;TAS|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;TAS|GO:0005874;microtubule;IDA|GO:0005876;spindle microtubule;IDA|GO:0016020;membrane;IDA	GO:0000166;nucleotide binding;IEA|GO:0003777;microtubule motor activity;TAS|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IEA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IBA|GO:0019901;protein kinase binding;IPI|GO:0032403;protein complex binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/KIF11	https://www.uniprot.org/uniprot/P52732	https://hpo.jax.org/app/browse/search?q=KIF11&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=148760	http://www.informatics.jax.org/searchtool/Search.do?query=KIF11&submit=Quick%0D%7686ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF11
10_101.305_148.305	Chr10:78740262-120743937	1.191	KIF20B	ENSG00000138182	kinesin family member 20B	chr10:91461367-91534700		Alzheimer's disease ; Body Height; Breath Tests; Occipital Lobe	Mice homozygous for ENU induced mutations display craniofacial and nervous system abnormalities including exencephaly, microcephaly, decreased forebrain size and impaired neuronal progenitor proliferation.	Kinesins	GO:0001843;neural tube closure;IEA|GO:0007018;microtubule-based movement;IBA|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;NAS|GO:0007088;regulation of mitotic nuclear division;NAS|GO:0008284;positive regulation of cell proliferation;IMP|GO:0032467;positive regulation of cytokinesis;IMP|GO:0035372;protein localization to microtubule;ISS|GO:0048812;neuron projection morphogenesis;ISS|GO:0051301;cell division;IEA|GO:0070201;regulation of establishment of protein localization;IEA|GO:0090316;positive regulation of intracellular protein transport;ISS|GO:1903438;positive regulation of mitotic cytokinetic process;ISS|GO:2000114;regulation of establishment of cell polarity;ISS|GO:2001222;regulation of neuron migration;IEA|GO:2001224;positive regulation of neuron migration;ISS	GO:0000922;spindle pole;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005871;kinesin complex;IBA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IEA|GO:0030424;axon;IEA|GO:0030426;growth cone;IEA|GO:0030496;midbody;IDA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;ISS|GO:0051233;spindle midzone;ISS|GO:0070938;contractile ring;IDA|GO:0097431;mitotic spindle pole;IDA|GO:1990023;mitotic spindle midzone;IDA	GO:0000166;nucleotide binding;IEA|GO:0003774;motor activity;IEA|GO:0003777;microtubule motor activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008017;microtubule binding;IDA|GO:0008574;ATP-dependent microtubule motor activity, plus-end-directed;IDA|GO:0016887;ATPase activity;IDA|GO:0042803;protein homodimerization activity;IDA|GO:0050699;WW domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KIF20B	https://www.uniprot.org/uniprot/Q96Q89		https://www.ncbi.nlm.nih.gov/omim/?term=605498	http://www.informatics.jax.org/searchtool/Search.do?query=KIF20B&submit=Quick%0D%7693ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KIF20B
22_4.194_23.194	Chr22:17733575-25291782	0.374	KLHL22	ENSG00000099910	kelch like family member 22	chr22:20783528-20850170		Breath Tests; Chronic renal failure|Kidney Failure, Chronic	 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000070;mitotic sister chromatid segregation;IMP|GO:0006513;protein monoubiquitination;IDA|GO:0007049;cell cycle;IEA|GO:0007094;mitotic spindle assembly checkpoint;IMP|GO:0016567;protein ubiquitination;IEA|GO:0043687;post-translational protein modification;TAS|GO:0051301;cell division;IEA	GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005827;polar microtubule;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0031463;Cul3-RING ubiquitin ligase complex;IDA|GO:0072686;mitotic spindle;IDA	GO:0004842;ubiquitin-protein transferase activity;IBA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/KLHL22	https://www.uniprot.org/uniprot/Q53GT1			http://www.informatics.jax.org/searchtool/Search.do?query=KLHL22&submit=Quick%0D%2351ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KLHL22
2_252.744_266.744	Chr2:235528138-241561721	0.223	KLHL30	ENSG00000168427	kelch like family member 30	chr2:239047363-239061588			 		GO:0016567;protein ubiquitination;IEA	GO:0031463;Cul3-RING ubiquitin ligase complex;IBA	GO:0004842;ubiquitin-protein transferase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/KLHL30				http://www.informatics.jax.org/searchtool/Search.do?query=KLHL30&submit=Quick%0D%12267ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KLHL30
10_101.305_148.305	Chr10:78740262-120743937	1.191	KLLN	ENSG00000283059	killin, p53-regulated DNA replication inhibitor	chr10:89618918-89623194	The protein encoded by this intronless gene is found in the nucleus, where it can inhibit DNA synthesis and promote S phase arrest coupled to apoptosis. The expression of this DNA binding protein is upregulated by transcription factor p53. [provided by RefSeq, Dec 2012]	COWDEN SYNDROME 4			GO:0006915;apoptotic process;IMP|GO:0007049;cell cycle;IEA|GO:0007050;cell cycle arrest;IDA	GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA	GO:0003677;DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/KLLN		https://hpo.jax.org/app/browse/search?q=KLLN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612105	http://www.informatics.jax.org/searchtool/Search.do?query=KLLN&submit=Quick%0D%22680ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=KLLN
10_101.305_148.305	Chr10:78740262-120743937	1.191	LBX1	ENSG00000138136	ladybird homeobox 1	chr10:102986733-102989551	This gene and the orthologous mouse gene were found by their homology to the Drosophila lady bird early and late homeobox genes. In the mouse, this gene is a key regulator of muscle precursor cell migration and is required for the acquisition of dorsal identities of forelimb muscles. [provided by RefSeq, Jul 2008]		Homozygous null mice display impaired limb muscle development resulting from progenitor cell migration defects. Defects in heart development and nervous system morphology are also reported.		GO:0001947;heart looping;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007517;muscle organ development;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0009653;anatomical structure morphogenesis;TAS|GO:0021522;spinal cord motor neuron differentiation;IEA|GO:0021920;regulation of transcription from RNA polymerase II promoter involved in spinal cord association neuron specification;IEA|GO:0030154;cell differentiation;IEA|GO:0045665;negative regulation of neuron differentiation;IEA|GO:0048663;neuron fate commitment;IEA|GO:0048664;neuron fate determination;IEA	GO:0005634;nucleus;IEA|GO:0005667;transcription factor complex;IEA	GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LBX1	https://www.uniprot.org/uniprot/P52954		https://www.ncbi.nlm.nih.gov/omim/?term=604255	http://www.informatics.jax.org/searchtool/Search.do?query=LBX1&submit=Quick%0D%7683ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LBX1
10_101.305_148.305	Chr10:78740262-120743937	1.191	LCOR	ENSG00000196233	ligand dependent nuclear receptor corepressor	chr10:98592017-98740800	LCOR is a transcriptional corepressor widely expressed in fetal and adult tissues that is recruited to agonist-bound nuclear receptors through a single LxxLL motif, also referred to as a nuclear receptor (NR) box (Fernandes et al., 2003 [PubMed 12535528]).[supplied by OMIM, Mar 2008]	Tobacco Use Disorder	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA	GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/LCOR			https://www.ncbi.nlm.nih.gov/omim/?term=607698	http://www.informatics.jax.org/searchtool/Search.do?query=LCOR&submit=Quick%0D%16298ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LCOR
10_101.305_148.305	Chr10:78740262-120743937	1.191	LDB1	ENSG00000198728	LIM domain binding 1	chr10:103867317-103880210		Alzheimer's disease 	Mice homozygous for disruptions in this gene die as embryos at E9.5-E10 with impaired primitive erythropoiesis and vascular development.	RUNX1 regulates transcription of genes involved in differentiation of HSCs	GO:0000972;transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery;ISS|GO:0001702;gastrulation with mouth forming second;IEA|GO:0001942;hair follicle development;IEA|GO:0006351;transcription, DNA-templated;NAS|GO:0006355;regulation of transcription, DNA-templated;NAS|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007275;multicellular organism development;IEA|GO:0009948;anterior/posterior axis specification;IEA|GO:0010669;epithelial structure maintenance;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0021549;cerebellum development;IEA|GO:0021702;cerebellar Purkinje cell differentiation;IEA|GO:0022607;cellular component assembly;IEA|GO:0030182;neuron differentiation;ISS|GO:0030334;regulation of cell migration;ISS|GO:0032784;regulation of DNA-templated transcription, elongation;ISS|GO:0035019;somatic stem cell population maintenance;IEA|GO:0043549;regulation of kinase activity;ISS|GO:0043973;histone H3-K4 acetylation;ISS|GO:0045647;negative regulation of erythrocyte differentiation;ISS|GO:0045785;positive regulation of cell adhesion;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IMP|GO:0046985;positive regulation of hemoglobin biosynthetic process;ISS|GO:0051893;regulation of focal adhesion assembly;ISS|GO:0060322;head development;IEA	GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IEA|GO:0005667;transcription factor complex;IDA|GO:0031252;cell leading edge;ISS|GO:0043234;protein complex;ISS	GO:0000989;transcription factor activity, transcription factor binding;IEA|GO:0001102;RNA polymerase II activating transcription factor binding;IPI|GO:0001158;enhancer sequence-specific DNA binding;IEA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003714;transcription corepressor activity;TAS|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI|GO:0030274;LIM domain binding;IPI|GO:0042803;protein homodimerization activity;ISS|GO:0043621;protein self-association;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LDB1			https://www.ncbi.nlm.nih.gov/omim/?term=603451	http://www.informatics.jax.org/searchtool/Search.do?query=LDB1&submit=Quick%0D%16978ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LDB1
10_101.305_148.305	Chr10:78740262-120743937	1.191	LDB3	ENSG00000122367	LIM domain binding 3	chr10:88428206-88495825	This gene encodes a PDZ domain-containing protein. PDZ motifs are modular protein-protein interaction domains consisting of 80-120 amino acid residues. PDZ domain-containing proteins interact with each other in cytoskeletal assembly or with other proteins involved in targeting and clustering of membrane proteins. The protein encoded by this gene interacts with alpha-actinin-2 through its N-terminal PDZ domain and with protein kinase C via its C-terminal LIM domains. The LIM domain is a cysteine-rich motif defined by 50-60 amino acids containing two zinc-binding modules. This protein also interacts with all three members of the myozenin family. Mutations in this gene have been associated with myofibrillar myopathy and dilated cardiomyopathy. Alternatively spliced transcript variants encoding different isoforms have been identified; all isoforms have N-terminal PDZ domains while only longer isoforms (1, 2 and 5) have C-terminal LIM domains. [provided by RefSeq, Jan 2010]	Cardiomyopathy, Hypertrophic; Cardiomyopathy, Dilated|DCM - Dilated cardiomyopathy; Alzheimer's disease ; Muscular Dystrophies, Limb-Girdle	Homozygous mutation of this gene results in lethality within a few days after birth from muscle abnormalities. Mutant mice exhibit myopathy, dysphagia, heart vascular congestion, dilated heart ventricles, cyanosis, and respiratory distress.		GO:0045214;sarcomere organization;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IDA|GO:0030018;Z disc;IDA|GO:0031143;pseudopodium;IEA|GO:0042995;cell projection;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0005080;protein kinase C binding;IEA|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA|GO:0051371;muscle alpha-actinin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LDB3	https://www.uniprot.org/uniprot/O75112	https://hpo.jax.org/app/browse/search?q=LDB3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605906	http://www.informatics.jax.org/searchtool/Search.do?query=LDB3&submit=Quick%0D%5402ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LDB3
10_101.305_148.305	Chr10:78740262-120743937	1.191	LGI1	ENSG00000108231	leucine rich glioma inactivated 1	chr10:95517566-95557916	This gene encodes a member of the secreted leucine-rich repeat (LRR) superfamily and shares homology with members of the SLIT protein family. The encoded protein may regulate the activity of voltage-gated potassium channels and may be involved in neuronal growth regulation and cell survival. This gene is rearranged as a result of translocations in glioblastoma cell lines, and it is frequently down-regulated or rearranged in malignant gliomas. Mutations in this gene result in autosomal dominant lateral temporal epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]	null; Epilepsies, Partial|Epilepsy; Blood Pressure; Fibrinogen; Alzheimer's disease 	Mice homozygous for a knock-out allele exhibit growth retardation, seizures, and death by the third week of life. Mice heterozygous for this allele exhibit increased suseptibility to pentylenetetrazole-induced seizures.	LGI-ADAM interactions	GO:0007399;nervous system development;TAS|GO:0007411;axon guidance;IMP|GO:0008283;cell proliferation;TAS|GO:0030307;positive regulation of cell growth;IMP|GO:0031175;neuron projection development;IMP|GO:0050806;positive regulation of synaptic transmission;ISS|GO:0051260;protein homooligomerization;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0030054;cell junction;IEA|GO:0045202;synapse;IEA	GO:0005102;receptor binding;IPI|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/LGI1	https://www.uniprot.org/uniprot/O95970	https://hpo.jax.org/app/browse/search?q=LGI1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604619	http://www.informatics.jax.org/searchtool/Search.do?query=LGI1&submit=Quick%0D%3687ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LGI1
10_101.305_148.305	Chr10:78740262-120743937	1.191	LIPA	ENSG00000107798	lipase A, lysosomal acid type	chr10:90973326-91174314	This gene encodes lipase A, the lysosomal acid lipase (also known as cholesterol ester hydrolase). This enzyme functions in the lysosome to catalyze the hydrolysis of cholesteryl esters and triglycerides. Mutations in this gene can result in Wolman disease and cholesteryl ester storage disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2014]	cholesteryl ester storage disease; Coronary Artery Disease; BMI- Edema rosiglitazone or pioglitazone; Alzheimer's disease cholesterol; Alzheimer's Disease; Hypercholesterolemia|LDLC levels; drug-related genes ; Type 2 Diabetes| edema | rosiglitazone; Dyslipidaemia; acid lipase deficiency and cholesterol ester storage disease; Alzheimer's disease ; Tobacco Use Disorder	Homozygous null mice show massive accumulation of triglycerides and cholesteryl esters in several organs, depletion of white and brown fat, hepatosplenomegaly, increased energy intake and plasma free fatty acid levels, insulin resistance, lung inflammation, alveolar destruction and premature death.	LDL clearance	GO:0000902;cell morphogenesis;IEA|GO:0001816;cytokine production;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006954;inflammatory response;IEA|GO:0008283;cell proliferation;IEA|GO:0016042;lipid catabolic process;IEA|GO:0030324;lung development;IEA|GO:0034383;low-density lipoprotein particle clearance;TAS|GO:0048771;tissue remodeling;IEA|GO:0048873;homeostasis of number of cells within a tissue;IEA	GO:0001650;fibrillar center;IDA|GO:0005764;lysosome;TAS|GO:0043202;lysosomal lumen;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA	GO:0004771;sterol esterase activity;TAS|GO:0016298;lipase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016788;hydrolase activity, acting on ester bonds;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LIPA	https://www.uniprot.org/uniprot/P38571	https://hpo.jax.org/app/browse/search?q=LIPA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613497	http://www.informatics.jax.org/searchtool/Search.do?query=LIPA&submit=Quick%0D%3638ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LIPA
10_101.305_148.305	Chr10:78740262-120743937	1.191	LIPF	ENSG00000182333	lipase F, gastric type	chr10:90424198-90438571	This gene encodes gastric lipase, an enzyme involved in the digestion of dietary triglycerides in the gastrointestinal tract, and responsible for 30% of fat digestion processes occurring in human. It is secreted by gastric chief cells in the fundic mucosa of the stomach, and it hydrolyzes the ester bonds of triglycerides under acidic pH conditions. The gene is a member of a conserved gene family of lipases that play distinct roles in neutral lipid metabolism. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]	Maximal Midexpiratory Flow Rate; schizophrenia; Respiratory Function Tests; Hypercholesterolemia|LDLC levels; Type 2 Diabetes| edema | rosiglitazone; Alzheimer's disease ; BMI- Edema rosiglitazone or pioglitazone	 	Digestion of dietary lipid	GO:0006108;malate metabolic process;IEA|GO:0006629;lipid metabolic process;IEA|GO:0006641;triglyceride metabolic process;NAS|GO:0016042;lipid catabolic process;IEA|GO:0055114;oxidation-reduction process;IEA	GO:0005575;cellular_component;ND|GO:0005576;extracellular region;IEA|GO:0005739;mitochondrion;IEA	GO:0004806;triglyceride lipase activity;IEA|GO:0008289;lipid binding;NAS|GO:0016615;malate dehydrogenase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0016788;hydrolase activity, acting on ester bonds;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LIPF			https://www.ncbi.nlm.nih.gov/omim/?term=601980	http://www.informatics.jax.org/searchtool/Search.do?query=LIPF&submit=Quick%0D%14775ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LIPF
10_101.305_148.305	Chr10:78740262-120743937	1.191	LIPJ	ENSG00000204022	lipase family member J	chr10:90346510-90366733			 	Formation of the cornified envelope	GO:0006629;lipid metabolic process;IEA|GO:0016042;lipid catabolic process;IEA		GO:0016787;hydrolase activity;IEA|GO:0016788;hydrolase activity, acting on ester bonds;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LIPJ			https://www.ncbi.nlm.nih.gov/omim/?term=613921	http://www.informatics.jax.org/searchtool/Search.do?query=LIPJ&submit=Quick%0D%17188ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LIPJ
10_101.305_148.305	Chr10:78740262-120743937	1.191	LIPK	ENSG00000204021	lipase family member K	chr10:90484301-90512543			 	Formation of the cornified envelope	GO:0006629;lipid metabolic process;IEA|GO:0016042;lipid catabolic process;IEA	GO:0005576;extracellular region;IEA	GO:0016787;hydrolase activity;IEA|GO:0016788;hydrolase activity, acting on ester bonds;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LIPK			https://www.ncbi.nlm.nih.gov/omim/?term=613922	http://www.informatics.jax.org/searchtool/Search.do?query=LIPK&submit=Quick%0D%17187ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LIPK
10_101.305_148.305	Chr10:78740262-120743937	1.191	LIPM	ENSG00000173239	lipase family member M	chr10:90562487-90580303		Hemoglobins; Respiratory Function Tests; Blood Proteins; Blood Cells	 	Formation of the cornified envelope	GO:0006629;lipid metabolic process;IEA|GO:0016042;lipid catabolic process;IEA	GO:0005576;extracellular region;IEA	GO:0016787;hydrolase activity;IEA|GO:0016788;hydrolase activity, acting on ester bonds;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LIPM			https://www.ncbi.nlm.nih.gov/omim/?term=613923	http://www.informatics.jax.org/searchtool/Search.do?query=LIPM&submit=Quick%0D%13320ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LIPM
10_101.305_148.305	Chr10:78740262-120743937	1.191	LIPN	ENSG00000204020	lipase family member N	chr10:90521163-90537999	The gene encodes a lipase that is highly expressed in granular keratinocytes in the epidermis, and plays a role in the differentiation of keratinocytes. Mutations in this gene are associated with lamellar ichthyosis type 4. [provided by RefSeq, Dec 2011]	Pancreatic Neoplasms	 	Formation of the cornified envelope	GO:0006629;lipid metabolic process;IEA|GO:0016042;lipid catabolic process;IEA	GO:0005576;extracellular region;IEA	GO:0016787;hydrolase activity;IEA|GO:0016788;hydrolase activity, acting on ester bonds;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LIPN		https://hpo.jax.org/app/browse/search?q=LIPN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613924	http://www.informatics.jax.org/searchtool/Search.do?query=LIPN&submit=Quick%0D%17186ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LIPN
10_101.305_148.305	Chr10:78740262-120743937	1.191	LOXL4	ENSG00000138131	lysyl oxidase like 4	chr10:100007447-100028007	This gene encodes a member of the lysyl oxidase gene family. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyses the first step in the formation of crosslinks in collagens and elastin. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. [provided by RefSeq, Jul 2008]	brain aneurysm; Alzheimer's disease 	 	Crosslinking of collagen fibrils	GO:0006898;receptor-mediated endocytosis;IEA|GO:0055114;oxidation-reduction process;IEA	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;IEA|GO:0016020;membrane;IEA|GO:0043235;receptor complex;IDA|GO:0070062;extracellular exosome;IDA	GO:0005044;scavenger receptor activity;IEA|GO:0005507;copper ion binding;IEA|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0016641;oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/LOXL4	https://www.uniprot.org/uniprot/Q96JB6		https://www.ncbi.nlm.nih.gov/omim/?term=607318	http://www.informatics.jax.org/searchtool/Search.do?query=LOXL4&submit=Quick%0D%7680ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LOXL4
10_101.305_148.305	Chr10:78740262-120743937	1.191	LRIT1	ENSG00000148602	leucine rich repeat, Ig-like and transmembrane domains 1	chr10:85991349-86001217		longevity; Alzheimer's disease 	Mice homozygous for a knock-out allele exhibit impaired synaptic communication of cone photoreceptors.		GO:0008150;biological_process;ND	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;ISS	GO:0003674;molecular_function;ND	http://www.genecards.org/index.php?path=/Search/keyword/LRIT1	https://www.uniprot.org/uniprot/Q9P2V4		https://www.ncbi.nlm.nih.gov/omim/?term=616103	http://www.informatics.jax.org/searchtool/Search.do?query=LRIT1&submit=Quick%0D%9137ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRIT1
10_101.305_148.305	Chr10:78740262-120743937	1.191	LRIT2	ENSG00000204033	leucine rich repeat, Ig-like and transmembrane domains 2	chr10:85980254-85985345		Tobacco Use Disorder	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/LRIT2				http://www.informatics.jax.org/searchtool/Search.do?query=LRIT2&submit=Quick%0D%17190ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRIT2
2_252.744_266.744	Chr2:235528138-241561721	0.223	LRRFIP1	ENSG00000124831	LRR binding FLII interacting protein 1	chr2:238536219-238722325		Tobacco Use Disorder	 	Signaling by FGFR1 in disease	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;TAS|GO:0008150;biological_process;ND|GO:0032481;positive regulation of type I interferon production;TAS|GO:0045892;negative regulation of transcription, DNA-templated;NAS|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IEA	GO:0005575;cellular_component;ND|GO:0005634;nucleus;TAS|GO:0005737;cytoplasm;TAS|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;TAS|GO:0005886;plasma membrane;IDA	GO:0003677;DNA binding;IDA|GO:0003725;double-stranded RNA binding;TAS|GO:0005515;protein binding;IPI|GO:0042803;protein homodimerization activity;IDA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/LRRFIP1	https://www.uniprot.org/uniprot/Q32MZ4		https://www.ncbi.nlm.nih.gov/omim/?term=603256	http://www.informatics.jax.org/searchtool/Search.do?query=LRRFIP1&submit=Quick%0D%5726ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LRRFIP1
22_4.194_23.194	Chr22:17733575-25291782	0.374	LZTR1	ENSG00000099949	leucine zipper like transcription regulator 1	chr22:21333751-21353327	This gene encodes a member of the BTB-kelch superfamily. Initially described as a putative transcriptional regulator based on weak homology to members of the basic leucine zipper-like family, the encoded protein subsequently has been shown to localize exclusively to the Golgi network where it may help stabilize the Gogli complex. Deletion of this gene may be associated with DiGeorge syndrome. [provided by RefSeq, Jul 2008]	Blood Pressure; Apoplexy|Cerebral Hemorrhage|Cerebral Hemorrhages|Intracranial Hemorrhages|Stroke|Subarachnoid Hemorrhage; hypertension	 		GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0009653;anatomical structure morphogenesis;TAS	GO:0005794;Golgi apparatus;IDA	GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/LZTR1	https://www.uniprot.org/uniprot/Q8N653	https://hpo.jax.org/app/browse/search?q=LZTR1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600574	http://www.informatics.jax.org/searchtool/Search.do?query=LZTR1&submit=Quick%0D%2356ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LZTR1
10_101.305_148.305	Chr10:78740262-120743937	1.191	LZTS2	ENSG00000107816	leucine zipper tumor suppressor 2	chr10:102756375-102767593	The protein encoded by this gene belongs to the leucine zipper tumor suppressor family of proteins, which function in transcription regulation and cell cycle control. This family member can repress beta-catenin-mediated transcriptional activation and is a negative regulator of the Wnt signaling pathway. It negatively regulates microtubule severing at centrosomes, and is necessary for central spindle formation and cytokinesis completion. It is implicated in cancer, where it may inhibit cell proliferation and decrease susceptibility to tumor development. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2015]	Alzheimer's disease ; Alcoholism; breast cancer	Mice homozygous for a null mutation display defects in urinary tract development.		GO:0001822;kidney development;IEA|GO:0007049;cell cycle;IEA|GO:0008285;negative regulation of cell proliferation;IEA|GO:0016055;Wnt signaling pathway;IEA|GO:0030178;negative regulation of Wnt signaling pathway;IEA|GO:0051301;cell division;IEA|GO:0072001;renal system development;IEA|GO:0090090;negative regulation of canonical Wnt signaling pathway;IEA|GO:1900181;negative regulation of protein localization to nucleus;IEA	GO:0005737;cytoplasm;IEA|GO:0005815;microtubule organizing center;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0005886;plasma membrane;IDA|GO:0031982;vesicle;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/LZTS2	https://www.uniprot.org/uniprot/Q9BRK4		https://www.ncbi.nlm.nih.gov/omim/?term=610454	http://www.informatics.jax.org/searchtool/Search.do?query=LZTS2&submit=Quick%0D%3641ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=LZTS2
22_4.194_23.194	Chr22:17733575-25291782	0.374	MAPK1	ENSG00000100030	mitogen-activated protein kinase 1	chr22:22108789-22221970	This gene encodes a member of the MAP kinase family. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. The activation of this kinase requires its phosphorylation by upstream kinases. Upon activation, this kinase translocates to the nucleus of the stimulated cells, where it phosphorylates nuclear targets. One study also suggests that this protein acts as a transcriptional repressor independent of its kinase activity. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Two alternatively spliced transcript variants encoding the same protein, but differing in the UTRs, have been reported for this gene. [provided by RefSeq, Jan 2014]	thyroid cancer; Type 2 Diabetes| edema | rosiglitazone; Narcolepsy; Multiple Sclerosis; bronchodilator response; Chronic renal failure|Kidney Failure, Chronic; alcohol consumption; ovarian cancer; null; breast cancer; Heart Rate; HIV; Bulimia	Homozygous mutant embryos implant in the uterus, but die shortly thereafter failing to form extraembryonic tissues.	Growth hormone receptor signaling	GO:0000165;MAPK cascade;TAS|GO:0000187;activation of MAPK activity;TAS|GO:0000189;MAPK import into nucleus;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006468;protein phosphorylation;IDA|GO:0006915;apoptotic process;TAS|GO:0006935;chemotaxis;TAS|GO:0006950;response to stress;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0007165;signal transduction;TAS|GO:0007268;chemical synaptic transmission;TAS|GO:0007411;axon guidance;TAS|GO:0007507;heart development;IEA|GO:0007611;learning or memory;NAS|GO:0008284;positive regulation of cell proliferation;IEA|GO:0008543;fibroblast growth factor receptor signaling pathway;TAS|GO:0009636;response to toxic substance;IEA|GO:0009887;animal organ morphogenesis;IEA|GO:0010468;regulation of gene expression;IBA|GO:0010628;positive regulation of gene expression;IMP|GO:0010800;positive regulation of peptidyl-threonine phosphorylation;IDA|GO:0014032;neural crest cell development;IEA|GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0015966;diadenosine tetraphosphate biosynthetic process;IEA|GO:0016032;viral process;IEA|GO:0016310;phosphorylation;IEA|GO:0018105;peptidyl-serine phosphorylation;IDA|GO:0018107;peptidyl-threonine phosphorylation;IEA|GO:0019233;sensory perception of pain;IEA|GO:0019858;cytosine metabolic process;IEA|GO:0030168;platelet activation;TAS|GO:0030278;regulation of ossification;IEA|GO:0030335;positive regulation of cell migration;IEA|GO:0030878;thyroid gland development;IEA|GO:0031647;regulation of protein stability;ISS|GO:0031663;lipopolysaccharide-mediated signaling pathway;IEA|GO:0032212;positive regulation of telomere maintenance via telomerase;IMP|GO:0032496;response to lipopolysaccharide;IEA|GO:0032872;regulation of stress-activated MAPK cascade;TAS|GO:0033160;positive regulation of protein import into nucleus, translocation;IEA|GO:0033598;mammary gland epithelial cell proliferation;IEA|GO:0034198;cellular response to amino acid starvation;IDA|GO:0034614;cellular response to reactive oxygen species;IMP|GO:0035094;response to nicotine;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0038095;Fc-epsilon receptor signaling pathway;TAS|GO:0038096;Fc-gamma receptor signaling pathway involved in phagocytosis;TAS|GO:0038127;ERBB signaling pathway;IDA|GO:0042473;outer ear morphogenesis;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0043330;response to exogenous dsRNA;IEA|GO:0043627;response to estrogen;IEA|GO:0045596;negative regulation of cell differentiation;IEA|GO:0045727;positive regulation of translation;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0048538;thymus development;IEA|GO:0050852;T cell receptor signaling pathway;IEA|GO:0050853;B cell receptor signaling pathway;IEA|GO:0051090;regulation of sequence-specific DNA binding transcription factor activity;TAS|GO:0051403;stress-activated MAPK cascade;IDA|GO:0051493;regulation of cytoskeleton organization;TAS|GO:0051973;positive regulation of telomerase activity;IMP|GO:0060020;Bergmann glial cell differentiation;IEA|GO:0060291;long-term synaptic potentiation;IEA|GO:0060324;face development;IEA|GO:0060397;JAK-STAT cascade involved in growth hormone signaling pathway;TAS|GO:0060425;lung morphogenesis;IEA|GO:0060440;trachea formation;IEA|GO:0060716;labyrinthine layer blood vessel development;IEA|GO:0061308;cardiac neural crest cell development involved in heart development;IEA|GO:0070371;ERK1 and ERK2 cascade;TAS|GO:0070849;response to epidermal growth factor;IDA|GO:0071276;cellular response to cadmium ion;IMP|GO:0071310;cellular response to organic substance;IEA|GO:0072584;caveolin-mediated endocytosis;TAS|GO:0090170;regulation of Golgi inheritance;TAS|GO:0097011;cellular response to granulocyte macrophage colony-stimulating factor stimulus;IEA|GO:1900034;regulation of cellular response to heat;TAS|GO:1903351;cellular response to dopamine;IMP|GO:1904355;positive regulation of telomere capping;IMP|GO:2000641;regulation of early endosome to late endosome transport;TAS	GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0005739;mitochondrion;TAS|GO:0005769;early endosome;TAS|GO:0005770;late endosome;TAS|GO:0005794;Golgi apparatus;TAS|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005901;caveola;TAS|GO:0005925;focal adhesion;TAS|GO:0030424;axon;IEA|GO:0031143;pseudopodium;IEA|GO:0032839;dendrite cytoplasm;IEA|GO:0035578;azurophil granule lumen;TAS|GO:0043204;perikaryon;IEA|GO:0043234;protein complex;IEA|GO:0070062;extracellular exosome;IDA|GO:0072686;mitotic spindle;ISS|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0000166;nucleotide binding;IEA|GO:0001784;phosphotyrosine binding;IEA|GO:0003677;DNA binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;TAS|GO:0004707;MAP kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0008134;transcription factor binding;IEA|GO:0008353;RNA polymerase II carboxy-terminal domain kinase activity;IEA|GO:0016301;kinase activity;TAS|GO:0016740;transferase activity;IEA|GO:0019901;protein kinase binding;IEA|GO:0019902;phosphatase binding;IPI|GO:0031435;mitogen-activated protein kinase kinase kinase binding;IEA|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MAPK1	https://www.uniprot.org/uniprot/P28482	https://hpo.jax.org/app/browse/search?q=MAPK1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=176948	http://www.informatics.jax.org/searchtool/Search.do?query=MAPK1&submit=Quick%0D%2382ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAPK1
10_101.305_148.305	Chr10:78740262-120743937	1.191	MARVELD1	ENSG00000155254	MARVEL domain containing 1	chr10:99472930-99477907			 		GO:0001766;membrane raft polarization;IBA|GO:0007049;cell cycle;IEA|GO:0008104;protein localization;IBA|GO:0042552;myelination;IBA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0045121;membrane raft;IBA	GO:0019911;structural constituent of myelin sheath;IBA	http://www.genecards.org/index.php?path=/Search/keyword/MARVELD1	https://www.uniprot.org/uniprot/Q9BSK0		https://www.ncbi.nlm.nih.gov/omim/?term=616970	http://www.informatics.jax.org/searchtool/Search.do?query=MARVELD1&submit=Quick%0D%9851ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MARVELD1
10_101.305_148.305	Chr10:78740262-120743937	1.191	MAT1A	ENSG00000151224	methionine adenosyltransferase 1A	chr10:82031576-82049440	This gene catalyzes a two-step reaction that involves the transfer of the adenosyl moiety of ATP to methionine to form S-adenosylmethionine and tripolyphosphate, which is subsequently cleaved to PPi and Pi. S-adenosylmethionine is the source of methyl groups for most biological methylations. The encoded protein is found as a homotetramer (MAT I) or a homodimer (MAT III) whereas a third form, MAT II (gamma), is encoded by the MAT2A gene. Mutations in this gene are associated with methionine adenosyltransferase deficiency. [provided by RefSeq, Jul 2008]	methionine adenosyltransferase I/III deficiency; Spinal Dysraphism; Cleft Lip|Cleft Palate; hypertension; Alcoholism; Cholesterol, HDL; Type 2 Diabetes| edema | rosiglitazone; Alzheimer's disease 	Mice homozygous for disruptions in this gene have significantly elevated levels of methionine in the circulation and develop liver steatosis with age.	Metabolism of ingested SeMet, Sec, MeSec into H2Se	GO:0000096;sulfur amino acid metabolic process;TAS|GO:0001887;selenium compound metabolic process;TAS|GO:0006556;S-adenosylmethionine biosynthetic process;IEA|GO:0006730;one-carbon metabolic process;IEA|GO:0009087;methionine catabolic process;IMP|GO:0032259;methylation;TAS|GO:0051289;protein homotetramerization;IDA	GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0004478;methionine adenosyltransferase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016740;transferase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA|GO:0098601;selenomethionine adenosyltransferase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/MAT1A	https://www.uniprot.org/uniprot/Q00266	https://hpo.jax.org/app/browse/search?q=MAT1A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610550	http://www.informatics.jax.org/searchtool/Search.do?query=MAT1A&submit=Quick%0D%9391ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MAT1A
22_4.194_23.194	Chr22:17733575-25291782	0.374	MED15	ENSG00000099917	mediator complex subunit 15	chr22:20850200-20941919	The protein encoded by this gene is a subunit of the multiprotein complexes PC2 and ARC/DRIP and may function as a transcriptional coactivator in RNA polymerase II transcription. This gene contains stretches of trinucleotide repeats and is located in the chromosome 22 region which is deleted in DiGeorge syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]	schizophrenia; Arteries	 	Transcriptional regulation of white adipocyte differentiation	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IEA|GO:0016020;membrane;IDA|GO:0016592;mediator complex;IEA	GO:0001104;RNA polymerase II transcription cofactor activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MED15	https://www.uniprot.org/uniprot/Q96RN5		https://www.ncbi.nlm.nih.gov/omim/?term=607372	http://www.informatics.jax.org/searchtool/Search.do?query=MED15&submit=Quick%0D%2352ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MED15
10_101.305_148.305	Chr10:78740262-120743937	1.191	MGEA5	ENSG00000198408	meningioma expressed antigen 5 (hyaluronidase)	chr10:103544200-103578696	The dynamic modification of cytoplasmic and nuclear proteins by O-linked N-acetylglucosamine (O-GlcNAc) addition and removal on serine and threonine residues is catalyzed by OGT (MIM 300255), which adds O-GlcNAc, and MGEA5, a glycosidase that removes O-GlcNAc modifications (Gao et al., 2001 [PubMed 11148210]).[supplied by OMIM, Mar 2008]	Type 2 Diabetes| edema | rosiglitazone; diabetes, type 2	Mice homozygous for a gene-trapped allele exhibit perinatal lethality associated with a developmental delay and respiratory failure. Mouse embryonic fibroblasts exhibit proliferative and mitotic defects, frequent cytokinesis failure, and loss of genomic stability.		GO:0006044;N-acetylglucosamine metabolic process;IDA|GO:0006493;protein O-linked glycosylation;NAS|GO:0006516;glycoprotein catabolic process;TAS|GO:0006517;protein deglycosylation;IDA|GO:0008152;metabolic process;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0016020;membrane;IDA	GO:0004415;hyalurononglucosaminidase activity;TAS|GO:0016231;beta-N-acetylglucosaminidase activity;IDA|GO:0016787;hydrolase activity;IEA|GO:0016798;hydrolase activity, acting on glycosyl bonds;IEA|GO:0102166;[protein]-3-O-(N-acetyl-D-glucosaminyl)-L-threonine O-N-acetyl-alpha-D-glucosaminase activity;IEA|GO:0102167;[protein]-3-O-(N-acetyl-D-glucosaminyl)-L-serine O-N-acetyl-alpha-D-glucosaminase activity;IEA|GO:0102571;[protein]-3-O-(N-acetyl-D-glucosaminyl)-L-serine/L-threonine O-N-acetyl-alpha-D-glucosaminase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MGEA5			https://www.ncbi.nlm.nih.gov/omim/?term=604039	http://www.informatics.jax.org/searchtool/Search.do?query=MGEA5&submit=Quick%0D%16888ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MGEA5
22_4.194_23.194	Chr22:17733575-25291782	0.374	MICAL3	ENSG00000243156	microtubule associated monooxygenase, calponin and LIM domain containing 3	chr22:18270415-18507325		gamma-Glutamyltransferase; Tobacco Use Disorder	 		GO:0006887;exocytosis;IEA|GO:0007010;cytoskeleton organization;IDA|GO:0007049;cell cycle;IEA|GO:0030042;actin filament depolymerization;IDA|GO:0051301;cell division;IEA|GO:0055114;oxidation-reduction process;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005938;cell cortex;IEA|GO:0030496;midbody;IEA|GO:0042995;cell projection;IEA	GO:0003779;actin binding;IDA|GO:0004497;monooxygenase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0016709;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen;ISS|GO:0017137;Rab GTPase binding;IEA|GO:0046872;metal ion binding;IEA|GO:0071949;FAD binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/MICAL3			https://www.ncbi.nlm.nih.gov/omim/?term=608882	http://www.informatics.jax.org/searchtool/Search.do?query=MICAL3&submit=Quick%0D%19761ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MICAL3
22_4.194_23.194	Chr22:17733575-25291782	0.374	MIF	ENSG00000276701	macrophage migration inhibitory factor (glycosylation-inhibiting factor)	chr22:24236191-24237414	This gene encodes a lymphokine involved in cell-mediated immunity, immunoregulation, and inflammation. It plays a role in the regulation of macrophage function in host defense through the suppression of anti-inflammatory effects of glucocorticoids. This lymphokine and the JAB1 protein form a complex in the cytosol near the peripheral plasma membrane, which may indicate an additional role in integrin signaling pathways. [provided by RefSeq, Jul 2008]	lung cancer; biliary atresia; Myocardial Infarction; Coronary Vessel Anomalies|Mucocutaneous Lymph Node Syndrome; Meningeal Neoplasms|meningioma; gastric mucosa; stroke, ischemic; null; Familial Mediterranean Fever; Atrophy|Gastritis|Inflammation; Type 2 Diabetes| edema | rosiglitazone; prostate cancer; Colitis, Ulcerative; malaria; allogeneic stem cell transplantation; sarcoidosis; inflammatory response in coronary bypass; Atopy; ulcerative colitis; Duodenal Ulcer|Helicobacter Infections|Inflammation|Peptic Ulcer; polyarthritis; Asthma|; Tuberculosis, Pulmonary; kidney failure, chronic; nephrotic syndrome; Nephrotic Syndrome; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Psoriasis; Amyotrophic Lateral Sclerosis|Anoxia|; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; psoriasis; heart disease, ischemic; Sepsis; alopecia areata; alcohol; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Alzheimer's Disease; lupus erythematosus; Anemia|Malaria, Falciparum; Arthritis, Juvenile Rheumatoid; Gastritis, Atrophic|Helicobacter Infections|Metaplasia|Stomach Neoplasms; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma; obesity; Hamartoma|Lung Diseases; Type 2 diabetes; Chronic ulcerative colitis|Colitis, Ulcerative|Inflammation; tooth loss; giant cell arteritis; rheumatoid arthritis; Alphavirus Infections|Arthralgia|Paraplegia; Chronic renal failure|Kidney Failure, Chronic; cutaneous vasculitis; Bone Resorption; multiple sclerosis; Atherosclerosis|Cardiovascular Diseases|Coronary Disease|Disease Models, Animal; lung cancer ; juvenile arthritis; cystic fibrosis Peudomonas aeruginosa; gamma-Glutamyltransferase; diabetes, type 2; tuberculosis; Dyspepsia|Helicobacter Infections|Inflammation; Arthritis, Rheumatoid|Carotid Artery Diseases|Disease Susceptibility|Rheumatoid Arthritis; Crohn's disease; leukopenia neutropenia stomatitis thrombocytopenia; juvenile idiopathic arthritis; smoking; Arthritis, Rheumatoid|Rheumatoid Arthritis; Crohn's disease ulcerative colitis; Chagas Disease|; asthma; atopy; Community-Acquired Infections|Pneumonia|Sepsis; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; arthritis, juvenile; Rheumatoid arthritis; pancreatitis, acute	Homozygotes for 3 distinct targeted alleles show varying immune system defects. Among these are increased endotoxin resistance and Pseudomonas clearance; reduced size of induced fibrosarcomas and lower mitotic index; and decreased contact hypersensitivity.	Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation	GO:0001516;prostaglandin biosynthetic process;IDA|GO:0002376;immune system process;IEA|GO:0006954;inflammatory response;IEA|GO:0007166;cell surface receptor signaling pathway;IDA|GO:0008283;cell proliferation;IDA|GO:0010629;negative regulation of gene expression;IDA|GO:0010739;positive regulation of protein kinase A signaling;IDA|GO:0019752;carboxylic acid metabolic process;IDA|GO:0030890;positive regulation of B cell proliferation;IDA|GO:0033138;positive regulation of peptidyl-serine phosphorylation;IDA|GO:0042327;positive regulation of phosphorylation;IDA|GO:0043030;regulation of macrophage activation;NAS|GO:0043066;negative regulation of apoptotic process;IDA|GO:0043312;neutrophil degranulation;TAS|GO:0043518;negative regulation of DNA damage response, signal transduction by p53 class mediator;IDA|GO:0045087;innate immune response;IEA|GO:0048146;positive regulation of fibroblast proliferation;IDA|GO:0050715;positive regulation of cytokine secretion;IDA|GO:0050731;positive regulation of peptidyl-tyrosine phosphorylation;IDA|GO:0050900;leukocyte migration;TAS|GO:0050918;positive chemotaxis;IEA|GO:0070207;protein homotrimerization;IPI|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IDA|GO:0071157;negative regulation of cell cycle arrest;IDA|GO:0090344;negative regulation of cell aging;IDA|GO:1902166;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;IDA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0009986;cell surface;IDA|GO:0031982;vesicle;IDA|GO:0034774;secretory granule lumen;TAS|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0004167;dopachrome isomerase activity;IDA|GO:0005102;receptor binding;IPI|GO:0005125;cytokine activity;IDA|GO:0005126;cytokine receptor binding;IPI|GO:0005515;protein binding;IPI|GO:0016853;isomerase activity;IEA|GO:0042056;chemoattractant activity;IDA|GO:0050178;phenylpyruvate tautomerase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MIF		https://hpo.jax.org/app/browse/search?q=MIF&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=153620	http://www.informatics.jax.org/searchtool/Search.do?query=MIF&submit=Quick%0D%21667ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MIF
10_101.305_148.305	Chr10:78740262-120743937	1.191	MINPP1	ENSG00000107789	multiple inositol-polyphosphate phosphatase 1	chr10:89264632-89313217	This gene encodes multiple inositol polyphosphate phosphatase; an enzyme that removes 3-phosphate from inositol phosphate substrates. It is the only enzyme known to hydrolzye inositol pentakisphosphate and inositol hexakisphosphate. This enzyme also converts 2,3 bisphosphoglycerate (2,3-BPG) to 2-phosphoglycerate; an activity formerly thought to be exclusive to 2,3-BPG synthase/2-phosphatase (BPGM) in the Rapoport-Luebering shunt of the glycolytic pathway.[provided by RefSeq, Sep 2009]	Longevity; Schizophrenia; Alzheimer's disease 	Mice homozygous for a targeted null mutation exhibit no discernable phenotype; mice are viable and fertile with normal chondrocyte and bone development.	Synthesis of IPs in the ER lumen	GO:0001503;ossification;NAS|GO:0006797;polyphosphate metabolic process;TAS|GO:0016311;dephosphorylation;IEA|GO:0030282;bone mineralization;NAS|GO:0043647;inositol phosphate metabolic process;TAS	GO:0005783;endoplasmic reticulum;TAS|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0070062;extracellular exosome;IDA	GO:0003993;acid phosphatase activity;IBA|GO:0004446;inositol-hexakisphosphate phosphatase activity;IEA|GO:0008969;phosphohistidine phosphatase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0030351;inositol-1,3,4,5,6-pentakisphosphate 3-phosphatase activity;TAS|GO:0034417;bisphosphoglycerate 3-phosphatase activity;IDA|GO:0051717;inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity;TAS|GO:0052745;inositol phosphate phosphatase activity;NAS|GO:0052826;inositol hexakisphosphate 2-phosphatase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/MINPP1	https://www.uniprot.org/uniprot/Q9UNW1	https://hpo.jax.org/app/browse/search?q=MINPP1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605391	http://www.informatics.jax.org/searchtool/Search.do?query=MINPP1&submit=Quick%0D%3636ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MINPP1
2_252.744_266.744	Chr2:235528138-241561721	0.223	MLPH	ENSG00000115648	melanophilin	chr2:238394071-238463961	This gene encodes a member of the exophilin subfamily of Rab effector proteins. The protein forms a ternary complex with the small Ras-related GTPase Rab27A in its GTP-bound form and the motor protein myosin Va. A similar protein complex in mouse functions to tether pigment-producing organelles called melanosomes to the actin cytoskeleton in melanocytes, and is required for visible pigmentation in the hair and skin. A mutation in this gene results in Griscelli syndrome type 3, which is characterized by a silver-gray hair color and abnormal pigment distribution in the hair shaft. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]	cleft lip with cleft palate cleft lip without cleft palate cleft palate; Prostatic Neoplasms	Homozygous targeted null mutants affect viability and body size, and result in abnormal lungs, kidneys, immune system, hematopoiesis, myelopoiesis, and anomalies in cerebellar foliation and neuronal cell layer development.		GO:0006886;intracellular protein transport;IEA	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IEA|GO:0030425;dendrite;IDA|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MLPH	https://www.uniprot.org/uniprot/Q9BV36	https://hpo.jax.org/app/browse/search?q=MLPH&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606526	http://www.informatics.jax.org/searchtool/Search.do?query=MLPH&submit=Quick%0D%4639ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MLPH
22_4.194_23.194	Chr22:17733575-25291782	0.374	MMP11	ENSG00000275365	matrix metallopeptidase 11	chr22:24110413-24126503	Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. However, the enzyme encoded by this gene is activated intracellularly by furin within the constitutive secretory pathway. Also in contrast to other MMP's, this enzyme cleaves alpha 1-proteinase inhibitor but weakly degrades structural proteins of the extracellular matrix. [provided by RefSeq, Jul 2008]	Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes; Chorioamnionitis|Fetal Membranes, Premature Rupture|Infection of amniotic sac and membranes|Obstetric Labor, Premature|Pre-Eclampsia|Premature Birth; Hepatitis C, Chronic|Liver Cirrhosis; Type 2 Diabetes| edema | rosiglitazone; Mucocutaneous Lymph Node Syndrome	Homozygous null mice exhibit a decreased incidence of DMBA-induced carcinomas.	Activation of Matrix Metalloproteinases	GO:0006508;proteolysis;TAS|GO:0007275;multicellular organism development;TAS|GO:0022617;extracellular matrix disassembly;TAS|GO:0030574;collagen catabolic process;TAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IDA|GO:0005796;Golgi lumen;TAS|GO:0031012;extracellular matrix;IEA	GO:0004222;metalloendopeptidase activity;TAS|GO:0004252;serine-type endopeptidase activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MMP11	https://www.uniprot.org/uniprot/P24347		https://www.ncbi.nlm.nih.gov/omim/?term=185261	http://www.informatics.jax.org/searchtool/Search.do?query=MMP11&submit=Quick%0D%21335ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MMP11
10_101.305_148.305	Chr10:78740262-120743937	1.191	MMRN2	ENSG00000173269	multimerin 2	chr10:88695297-88729238	This gene encodes a protein belonging to the member of elastin microfibril interface-located (EMILIN) protein family. This family member is an extracellular matrix glycoprotein that can interfere with tumor angiogenesis and growth. It serves as a transforming growth factor beta antagonist and can interfere with the VEGF-A/VEGFR2 pathway. A related pseudogene has been identified on chromosome 6. [provided by RefSeq, Aug 2012]		 		GO:0001525;angiogenesis;IEA|GO:0030948;negative regulation of vascular endothelial growth factor receptor signaling pathway;IDA|GO:0090051;negative regulation of cell migration involved in sprouting angiogenesis;IDA	GO:0005576;extracellular region;IEA|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IDA|GO:0031012;extracellular matrix;IDA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MMRN2			https://www.ncbi.nlm.nih.gov/omim/?term=608925	http://www.informatics.jax.org/searchtool/Search.do?query=MMRN2&submit=Quick%0D%13328ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MMRN2
10_101.305_148.305	Chr10:78740262-120743937	1.191	MMS19	ENSG00000155229	MMS19 homolog, cytosolic iron-sulfur assembly component	chr10:99218081-99258551		Adenocarcinoma|Pancreatic Neoplasms; Chronic renal failure|Kidney Failure, Chronic; Alzheimer's disease ; multiple sclerosis	 	Cytosolic iron-sulfur cluster assembly	GO:0000160;phosphorelay signal transduction system;NAS|GO:0006259;DNA metabolic process;IMP|GO:0006281;DNA repair;IEA|GO:0006289;nucleotide-excision repair;NAS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007059;chromosome segregation;IEA|GO:0009725;response to hormone;NAS|GO:0016226;iron-sulfur cluster assembly;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IMP	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005675;holo TFIIH complex;NAS|GO:0005737;cytoplasm;IDA|GO:0005819;spindle;IDA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0016020;membrane;IDA|GO:0071817;MMXD complex;IDA|GO:0097361;CIA complex;IDA	GO:0003713;transcription coactivator activity;IMP|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IEA|GO:0030159;receptor signaling complex scaffold activity;NAS|GO:0030331;estrogen receptor binding;IPI|GO:0030674;protein binding, bridging;NAS	http://www.genecards.org/index.php?path=/Search/keyword/MMS19	https://www.uniprot.org/uniprot/Q96T76		https://www.ncbi.nlm.nih.gov/omim/?term=614777	http://www.informatics.jax.org/searchtool/Search.do?query=MMS19&submit=Quick%0D%9848ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MMS19
10_101.305_148.305	Chr10:78740262-120743937	1.191	MORN4	ENSG00000171160	MORN repeat containing 4	chr10:99374310-99393344			 				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MORN4				http://www.informatics.jax.org/searchtool/Search.do?query=MORN4&submit=Quick%0D%12865ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MORN4
22_4.194_23.194	Chr22:17733575-25291782	0.374	MRPL40	ENSG00000185608	mitochondrial ribosomal protein L40	chr22:19419425-19423598	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Deletions in this gene may contribute to the etiology of velo-cardio-facial syndrome and DiGeorge syndrome. [provided by RefSeq, Jul 2008]	Acquired Immunodeficiency Syndrome|Disease Progression	 	Mitochondrial translation termination	GO:0009653;anatomical structure morphogenesis;TAS|GO:0070125;mitochondrial translational elongation;TAS|GO:0070126;mitochondrial translational termination;TAS	GO:0005634;nucleus;TAS|GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005761;mitochondrial ribosome;IEA|GO:0005762;mitochondrial large ribosomal subunit;IDA|GO:0005840;ribosome;IEA|GO:0030529;intracellular ribonucleoprotein complex;IEA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MRPL40			https://www.ncbi.nlm.nih.gov/omim/?term=605089	http://www.informatics.jax.org/searchtool/Search.do?query=MRPL40&submit=Quick%0D%15444ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MRPL40
10_101.305_148.305	Chr10:78740262-120743937	1.191	MRPL43	ENSG00000055950	mitochondrial ribosomal protein L43	chr10:102729215-102747272	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. This gene and the gene for a semaphorin class 4 protein (SEMA4G) overlap at map location 10q24.31 and are transcribed in opposite directions. Sequence analysis identified multiple transcript variants encoding at least four different protein isoforms. [provided by RefSeq, Jul 2008]	Acquired Immunodeficiency Syndrome|Disease Progression; Alzheimer's disease 	 	Mitochondrial translation termination	GO:0006412;translation;NAS|GO:0070125;mitochondrial translational elongation;TAS|GO:0070126;mitochondrial translational termination;TAS	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005761;mitochondrial ribosome;NAS|GO:0005762;mitochondrial large ribosomal subunit;IDA|GO:0005840;ribosome;IEA|GO:0030529;intracellular ribonucleoprotein complex;IEA	GO:0003723;RNA binding;IDA|GO:0003735;structural constituent of ribosome;NAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/MRPL43	https://www.uniprot.org/uniprot/Q8N983		https://www.ncbi.nlm.nih.gov/omim/?term=611848	http://www.informatics.jax.org/searchtool/Search.do?query=MRPL43&submit=Quick%0D%1002ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MRPL43
10_101.305_148.305	Chr10:78740262-120743937	1.191	MXI1	ENSG00000119950	MAX interactor 1, dimerization protein	chr10:111967363-112047123	Expression of the c-myc gene, which produces an oncogenic transcription factor, is tightly regulated in normal cells but is frequently deregulated in human cancers. The protein encoded by this gene is a transcriptional repressor thought to negatively regulate MYC function, and is therefore a potential tumor suppressor. This protein inhibits the transcriptional activity of MYC by competing for MAX, another basic helix-loop-helix protein that binds to MYC and is required for its function. Defects in this gene are frequently found in patients with prostate tumors. Three alternatively spliced transcripts encoding different isoforms have been described. Additional alternatively spliced transcripts may exist but the products of these transcripts have not been verified experimentally. [provided by RefSeq, Jul 2008]	normalized brain volume, multiple sclerosis; Multiple Sclerosis; Alzheimer's disease 	Homozygous null mice show multisystem anomalies including progressive hyperplasia in the spleen and prostate, degenerative changes in the kidney, and increased sensitivity to carcinogens.  In addition, mutant embryo fibroblasts are more prone to transformation by the Myc and Ras oncogenes.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0008285;negative regulation of cell proliferation;TAS|GO:0042994;cytoplasmic sequestering of transcription factor;TAS|GO:1903507;negative regulation of nucleic acid-templated transcription;IEA	GO:0005634;nucleus;TAS|GO:0005730;nucleolus;IDA|GO:0005829;cytosol;IDA	GO:0003677;DNA binding;TAS|GO:0003714;transcription corepressor activity;TAS|GO:0005515;protein binding;IPI|GO:0046983;protein dimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/MXI1	https://www.uniprot.org/uniprot/P50539	https://hpo.jax.org/app/browse/search?q=MXI1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600020	http://www.informatics.jax.org/searchtool/Search.do?query=MXI1&submit=Quick%0D%5144ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MXI1
10_101.305_148.305	Chr10:78740262-120743937	1.191	MYOF	ENSG00000138119	myoferlin	chr10:95066186-95242074	Mutations in dysferlin, a protein associated with the plasma membrane, can cause muscle weakness that affects both proximal and distal muscles. The protein encoded by this gene is a type II membrane protein that is structurally similar to dysferlin. It is a member of the ferlin family and associates with both plasma and nuclear membranes. The protein contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. Two transcript variants encoding different isoforms have been found for this gene. Other possible variants have been detected, but their full-length nature has not been determined. [provided by RefSeq, Dec 2008]	Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone; Platelet Count; Alzheimer's disease 	Mice homozygous for a knock-out allele exhibit decreased body size, impaired myogenesis, lack of large diameter myofibers, abnormal skeletal muscle regeneration after injury, and decreased vascular permeability.		GO:0001778;plasma membrane repair;ISS|GO:0006936;muscle contraction;TAS|GO:0007520;myoblast fusion;IEA|GO:0008015;blood circulation;TAS|GO:0030947;regulation of vascular endothelial growth factor receptor signaling pathway;IEA|GO:0034605;cellular response to heat;IEA	GO:0005634;nucleus;IEA|GO:0005635;nuclear envelope;TAS|GO:0005886;plasma membrane;TAS|GO:0005901;caveola;ISS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IDA|GO:0031965;nuclear membrane;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/MYOF	https://www.uniprot.org/uniprot/Q9NZM1		https://www.ncbi.nlm.nih.gov/omim/?term=604603	http://www.informatics.jax.org/searchtool/Search.do?query=MYOF&submit=Quick%0D%7679ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=MYOF
2_252.744_266.744	Chr2:235528138-241561721	0.223	NDUFA10	ENSG00000281434	NADH:ubiquinone oxidoreductase subunit A10	chr2:240831867-240964819	The protein encoded by this gene is a component of 42 kDa complex I, the first enzyme complex in the electron transport chain of mitochondria. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. A mutation in this gene was found in an individual with Leigh syndrome. [provided by RefSeq, Apr 2016]	Acquired Immunodeficiency Syndrome|Disease Progression; Aging/ Telomere Length; prostate cancer; drug-related genes ; cognitive trait	 	Complex I biogenesis	GO:0006120;mitochondrial electron transport, NADH to ubiquinone;TAS|GO:0032981;mitochondrial respiratory chain complex I assembly;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005747;mitochondrial respiratory chain complex I;IDA|GO:0005759;mitochondrial matrix;IEA|GO:0070469;respiratory chain;IEA	GO:0008137;NADH dehydrogenase (ubiquinone) activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/NDUFA10	https://www.uniprot.org/uniprot/O95299	https://hpo.jax.org/app/browse/search?q=NDUFA10&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603835	http://www.informatics.jax.org/searchtool/Search.do?query=NDUFA10&submit=Quick%0D%22301ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NDUFA10
10_101.305_148.305	Chr10:78740262-120743937	1.191	NDUFB8	ENSG00000166136	NADH:ubiquinone oxidoreductase subunit B8	chr10:102267203-102289757		cognitive trait; Aging/ Telomere Length; prostate cancer	 	Complex I biogenesis	GO:0006120;mitochondrial electron transport, NADH to ubiquinone;TAS|GO:0032981;mitochondrial respiratory chain complex I assembly;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005739;mitochondrion;IDA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005747;mitochondrial respiratory chain complex I;IMP|GO:0005783;endoplasmic reticulum;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070469;respiratory chain;IEA	GO:0003954;NADH dehydrogenase activity;IEA|GO:0008137;NADH dehydrogenase (ubiquinone) activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/NDUFB8		https://hpo.jax.org/app/browse/search?q=NDUFB8&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602140	http://www.informatics.jax.org/searchtool/Search.do?query=NDUFB8&submit=Quick%0D%11703ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NDUFB8
10_101.305_148.305	Chr10:78740262-120743937	1.191	NEURL1	ENSG00000107954	neuralized E3 ubiquitin protein ligase 1	chr10:105253736-105352309		Platelet Aggregation; Alzheimer's disease 	Depending on the targeted mutation, homozygotes show a spectrum of conflicting phenotypes ranging from axonemal and spermatid abnormalities, male sterility and deficient lactation, to just a specific olfactory discrimination defect and ethanol hypersensitivity on motor coordination.	NOTCH2 Activation and Transmission of Signal to the Nucleus	GO:0006417;regulation of translation;IEA|GO:0006513;protein monoubiquitination;IEA|GO:0007219;Notch signaling pathway;IEA|GO:0007288;sperm axoneme assembly;IEA|GO:0007399;nervous system development;TAS|GO:0007420;brain development;IEA|GO:0007519;skeletal muscle tissue development;IEA|GO:0007595;lactation;IEA|GO:0008285;negative regulation of cell proliferation;IDA|GO:0016567;protein ubiquitination;IEA|GO:0030317;flagellated sperm motility;IEA|GO:0043065;positive regulation of apoptotic process;IDA|GO:0045741;positive regulation of epidermal growth factor-activated receptor activity;IEA|GO:0045746;negative regulation of Notch signaling pathway;IDA|GO:0048170;positive regulation of long-term neuronal synaptic plasticity;IEA|GO:0051491;positive regulation of filopodium assembly;IEA|GO:0060999;positive regulation of dendritic spine development;IEA|GO:0071230;cellular response to amino acid stimulus;IEA|GO:0090129;positive regulation of synapse maturation;IEA	GO:0005737;cytoplasm;IEA|GO:0005886;plasma membrane;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IEA|GO:0042995;cell projection;IEA|GO:0043197;dendritic spine;IEA|GO:0043204;perikaryon;IEA|GO:0045202;synapse;IEA|GO:0045211;postsynaptic membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0097440;apical dendrite;IEA	GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016740;transferase activity;IEA|GO:0045183;translation factor activity, non-nucleic acid binding;IEA|GO:0046872;metal ion binding;IEA|GO:0061630;ubiquitin protein ligase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NEURL1	https://www.uniprot.org/uniprot/O76050		https://www.ncbi.nlm.nih.gov/omim/?term=603804	http://www.informatics.jax.org/searchtool/Search.do?query=NEURL1&submit=Quick%0D%3663ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NEURL1
10_101.305_148.305	Chr10:78740262-120743937	1.191	NFKB2	ENSG00000077150	nuclear factor kappa B subunit 2	chr10:104153867-104162281	This gene encodes a subunit of the transcription factor complex nuclear factor-kappa-B (NFkB). The NFkB complex is expressed in numerous cell types and functions as a central activator of genes involved in inflammation and immune function. The protein encoded by this gene can function as both a transcriptional activator or repressor depending on its dimerization partner. The p100 full-length protein is co-translationally processed into a p52 active form. Chromosomal rearrangements and translocations of this locus have been observed in B cell lymphomas, some of which may result in the formation of fusion proteins. There is a pseudogene for this gene on chromosome 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]	Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder; Hepatopulmonary Syndrome|Liver Cirrhosis; Inflammation|Premature Birth; Alzheimer's disease ; Hodgkin Disease|Leukemia, Lymphocytic, Chronic, B-Cell|Lymphoproliferative Disorders|Waldenstrom Macroglobulinemia; Multiple Myeloma; Arthritis, Rheumatoid|Rheumatoid Arthritis|Anti-TNF Response; atherosclerosis; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; ovarian cancer; respiratory syncytial virus bronchiolitis; rheumatoid arthritis; normal variation; Connective Tissue Diseases|Fetal Diseases|Inflammation|Musculoskeletal Diseases|Pregnancy Complications, Hematologic|Premature Birth|Skin Diseases; null; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; plasma HDL cholesterol (HDL-C) levels; benzene haematotoxicity; Arthritis, Rheumatoid|; Type 2 Diabetes| edema | rosiglitazone	Homozygotes for targeted null mutations exhibit gastric hyperplasia, enlarged lymph nodes, enhanced cytokine production by activated T cells, absence of Peyer's patches, increased susceptibility to Leishmania major, and early postnatal mortality.	TRAF6 mediated NF-kB activation	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IBA|GO:0002268;follicular dendritic cell differentiation;IEA|GO:0002467;germinal center formation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0006954;inflammatory response;IBA|GO:0007165;signal transduction;IEA|GO:0007249;I-kappaB kinase/NF-kappaB signaling;IBA|GO:0007568;aging;IEA|GO:0030198;extracellular matrix organization;IEA|GO:0032481;positive regulation of type I interferon production;TAS|GO:0032496;response to lipopolysaccharide;IEA|GO:0034097;response to cytokine;IEA|GO:0038061;NIK/NF-kappaB signaling;TAS|GO:0045087;innate immune response;IBA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048511;rhythmic process;IEA|GO:0048536;spleen development;IEA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;TAS	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0033257;Bcl3/NF-kappaB2 complex;IDA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IDA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IBA|GO:0003700;transcription factor activity, sequence-specific DNA binding;TAS|GO:0003713;transcription coactivator activity;TAS|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/NFKB2	https://www.uniprot.org/uniprot/Q00653	https://hpo.jax.org/app/browse/search?q=NFKB2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=164012	http://www.informatics.jax.org/searchtool/Search.do?query=NFKB2&submit=Quick%0D%1609ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NFKB2
10_101.305_148.305	Chr10:78740262-120743937	1.191	NHLRC2	ENSG00000196865	NHL repeat containing 2	chr10:115614420-115676953		Alzheimer's disease 	 	Platelet degranulation 	GO:0002576;platelet degranulation;TAS|GO:0045454;cell redox homeostasis;IEA	GO:0005576;extracellular region;TAS|GO:0031093;platelet alpha granule lumen;TAS	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/NHLRC2		https://hpo.jax.org/app/browse/search?q=NHLRC2&navFilter=all		http://www.informatics.jax.org/searchtool/Search.do?query=NHLRC2&submit=Quick%0D%16484ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NHLRC2
10_101.305_148.305	Chr10:78740262-120743937	1.191	NKX2-3	ENSG00000119919	NK2 homeobox 3	chr10:101292690-101296278	This gene encodes a homeodomain-containing transcription factor. The encoded protein is a member of the NKX family of homeodomain transcription factors. Studies of similar proteins in mouse and rat have indicated a potential role in cellular differentiation.[provided by RefSeq, Mar 2010]	Crohn Disease|Crohn's disease|Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Inflammatory bowel disease, NOS|Inflammatory Bowel Diseases; Crohn's, Ulcerative Colitis; Colitis, Ulcerative|Crohn Disease|; Crohn Disease; Crohn Disease|Rectal Fistula; Crohn's disease; ulcerative colitis; Colonic Diseases|Crohn Disease|Ileal Diseases; Alzheimer's disease ; Crohn Disease|Crohn's disease; inflammatory bowel disease ; Colitis, Ulcerative	Homozygotes exhibit postnatal lethality due to acute intestinal malabsorption.  Survivors recover well but exhibit splenic and Peyer's patch hypoplasia, intestinal villus malformation, gut truncation and distension, abnormal molar and sublingual gland development, and deranged lymphocyte homing.		GO:0001776;leukocyte homeostasis;IEA|GO:0002317;plasma cell differentiation;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006641;triglyceride metabolic process;IEA|GO:0006955;immune response;IEA|GO:0008150;biological_process;ND|GO:0009791;post-embryonic development;IEA|GO:0022612;gland morphogenesis;IEA|GO:0030183;B cell differentiation;IEA|GO:0030225;macrophage differentiation;IEA|GO:0042127;regulation of cell proliferation;IEA|GO:0042475;odontogenesis of dentin-containing tooth;IEA|GO:0043367;CD4-positive, alpha-beta T cell differentiation;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048535;lymph node development;IEA|GO:0048536;spleen development;IEA|GO:0048537;mucosal-associated lymphoid tissue development;IEA|GO:0048541;Peyer's patch development;IEA|GO:0048565;digestive tract development;IEA|GO:0048621;post-embryonic digestive tract morphogenesis;IEA|GO:0050900;leukocyte migration;IEA	GO:0005575;cellular_component;ND|GO:0005634;nucleus;IEA	GO:0003674;molecular_function;ND|GO:0003677;DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NKX2-3	https://www.uniprot.org/uniprot/Q8TAU0		https://www.ncbi.nlm.nih.gov/omim/?term=606727	http://www.informatics.jax.org/searchtool/Search.do?query=NKX2-3&submit=Quick%0D%5137ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NKX2-3
10_101.305_148.305	Chr10:78740262-120743937	1.191	NOC3L	ENSG00000173145	NOC3 like DNA replication regulator	chr10:96075004-96122716		Alzheimer's disease ; Interleukin-6; Stroke	Mice homozygous for a knock-out allele exhibit complete embryonic lethality, fail to form blastocele and arrest at the morula stage.		GO:0045444;fat cell differentiation;IEA	GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IEA|GO:0005739;mitochondrion;IDA|GO:0016607;nuclear speck;IEA	GO:0003682;chromatin binding;IBA|GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/NOC3L			https://www.ncbi.nlm.nih.gov/omim/?term=610769	http://www.informatics.jax.org/searchtool/Search.do?query=NOC3L&submit=Quick%0D%13297ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NOC3L
10_101.305_148.305	Chr10:78740262-120743937	1.191	NOLC1	ENSG00000166197	nucleolar and coiled-body phosphoprotein 1	chr10:103911933-103923627		Alzheimer's disease 	 		GO:0000278;mitotic cell cycle;TAS|GO:0006364;rRNA processing;TAS|GO:0006417;regulation of translation;IMP|GO:0007000;nucleolus organization;IEA|GO:0007049;cell cycle;TAS|GO:0014029;neural crest formation;IMP|GO:0014032;neural crest cell development;IMP	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IEA|GO:0005730;nucleolus;TAS|GO:0005737;cytoplasm;TAS|GO:0015030;Cajal body;IEA	GO:0000166;nucleotide binding;IEA|GO:0001042;RNA polymerase I core binding;IDA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0005525;GTP binding;IEA|GO:0046982;protein heterodimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/NOLC1			https://www.ncbi.nlm.nih.gov/omim/?term=602394	http://www.informatics.jax.org/searchtool/Search.do?query=NOLC1&submit=Quick%0D%11726ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NOLC1
10_101.305_148.305	Chr10:78740262-120743937	1.191	NPM3	ENSG00000107833	nucleophosmin/nucleoplasmin 3	chr10:103541082-103543170	The protein encoded by this gene is related to the nuclear chaperone phosphoproteins, nucleoplasmin and nucleophosmin. This protein is strongly expressed in diverse cell types where it localizes primarily to the nucleus. Based on its similarity to nucleoplasmin and nucleophosmin, this protein likely functions as a molecular chaperone in the cell nucleus. [provided by RefSeq, Oct 2008]		 		GO:0006364;rRNA processing;IEA|GO:0009303;rRNA transcription;IEA	GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IEA|GO:0005829;cytosol;IDA|GO:0015629;actin cytoskeleton;IDA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/NPM3	https://www.uniprot.org/uniprot/O75607		https://www.ncbi.nlm.nih.gov/omim/?term=606456	http://www.informatics.jax.org/searchtool/Search.do?query=NPM3&submit=Quick%0D%3646ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NPM3
10_101.305_148.305	Chr10:78740262-120743937	1.191	NRAP	ENSG00000197893	nebulin related anchoring protein	chr10:115348475-115423886		Breath Tests; smoking cessation; Disease; Tobacco Use Disorder; Alzheimer's disease 	 		GO:0008150;biological_process;ND	GO:0005916;fascia adherens;ISS|GO:0005927;muscle tendon junction;ISS|GO:0030016;myofibril;IEA	GO:0003779;actin binding;IEA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0017166;vinculin binding;IEA|GO:0046872;metal ion binding;IEA|GO:0051371;muscle alpha-actinin binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/NRAP			https://www.ncbi.nlm.nih.gov/omim/?term=602873	http://www.informatics.jax.org/searchtool/Search.do?query=NRAP&submit=Quick%0D%16747ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NRAP
10_101.305_148.305	Chr10:78740262-120743937	1.191	NRG3	ENSG00000185737	neuregulin 3	chr10:83635070-84746935	This gene is a member of the neuregulin gene family. This gene family encodes ligands for the transmembrane tyrosine kinase receptors ERBB3 and ERBB4 - members of the epidermal growth factor receptor family. Ligand binding activates intracellular signaling cascades and the induction of cellular responses including proliferation, migration, differentiation, and survival or apoptosis. This gene encodes neuregulin 3 (NRG3). NRG3 has been shown to activate the tyrosine phosphorylation of its cognate receptor, ERBB4, and is thought to influence neuroblast proliferation, migration and differentiation by signalling through ERBB4. NRG3 also promotes mammary differentiation during embryogenesis. Linkage studies have implicated this gene as a susceptibility locus for schizophrenia and schizoaffective disorder. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described but their biological validity has not been verified.[provided by RefSeq, Sep 2009]	Echocardiography; Heart Failure; Erythrocytes; Esophagitis; Hip; Receptors, Tumor Necrosis Factor, Type II; Hemoglobins; Asthma; Magnesium; Hemoglobin A, Glycosylated; Breath Tests; Blood Pressure; response to iloperidone treatment (QT prolongation); Chronic renal failure|Kidney Failure, Chronic; Aorta; Respiratory Function Tests; Tobacco Use Disorder; Schizophrenia; Psychiatric Disorders; Diabetic Nephropathies; Adiponectin; Cholesterol, HDL; Cholesterol, LDL; Body Weight; Cholesterol; parental expressed emotion | ADHD; Glucose; Isoxazoles; Alcoholism; schizophrenia; Type 2 Diabetes| edema | rosiglitazone; Hypertension; Polyradiculoneuropathy, Chronic Inflammatory Demyelinating; Pancreatic Neoplasms; several psychiatric disorders; Erythrocyte Count; Heart Rate	Mutations in this gene result in abnormal, genetic background specific, mammary gland development. Male mice homozygous for a knock-out allele show novelty-induced hyperactivity, decreased prepulse inhibition, and impaired cued conditioning behavior.	Downregulation of ERBB2 signaling	GO:0001558;regulation of cell growth;NAS|GO:0007171;activation of transmembrane receptor protein tyrosine kinase activity;IEA|GO:0007389;pattern specification process;IEA|GO:0021842;chemorepulsion involved in interneuron migration from the subpallium to the cortex;IEA|GO:0030879;mammary gland development;IEA|GO:0035556;intracellular signal transduction;IEA|GO:0060596;mammary placode formation;IEA|GO:2001223;negative regulation of neuron migration;IEA	GO:0005576;extracellular region;IEA|GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;NAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0008083;growth factor activity;IEA|GO:0030297;transmembrane receptor protein tyrosine kinase activator activity;NAS|GO:0030971;receptor tyrosine kinase binding;NAS|GO:0045499;chemorepellent activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/NRG3			https://www.ncbi.nlm.nih.gov/omim/?term=605533	http://www.informatics.jax.org/searchtool/Search.do?query=NRG3&submit=Quick%0D%15478ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NRG3
10_101.305_148.305	Chr10:78740262-120743937	1.191	NT5C2	ENSG00000076685	5'-nucleotidase, cytosolic II	chr10:104845940-104953056	This gene encodes a hydrolase that serves as an important role in cellular purine metabolism by acting primarily on inosine 5'-monophosphate and other purine nucleotides. [provided by RefSeq, Oct 2011]	systolic blood pressure; Schizophrenia; hypertension; Alzheimer's disease ; Blood Pressure	Bone marrow cells with a nucleotide substitution allele used in a transplantation experiment following tamoxifen-induction produce NOTCH1-induced tumors that are resistant to 6-mercaptopurine chemotherapy.	Purine catabolism	GO:0006195;purine nucleotide catabolic process;TAS|GO:0008152;metabolic process;IEA|GO:0009117;nucleotide metabolic process;IEA|GO:0016310;phosphorylation;IEA|GO:0016311;dephosphorylation;IEA|GO:0017144;drug metabolic process;TAS|GO:0046040;IMP metabolic process;IBA|GO:0046085;adenosine metabolic process;IBA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0005515;protein binding;IPI|GO:0008253;5'-nucleotidase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0050146;nucleoside phosphotransferase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/NT5C2	https://www.uniprot.org/uniprot/P49902	https://hpo.jax.org/app/browse/search?q=NT5C2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600417	http://www.informatics.jax.org/searchtool/Search.do?query=NT5C2&submit=Quick%0D%1592ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NT5C2
10_101.305_148.305	Chr10:78740262-120743937	1.191	NUTM2A	ENSG00000184923	NUT family member 2A	chr10:88985205-88996665		Endometrial stromal sarcoma	 					http://www.genecards.org/index.php?path=/Search/keyword/NUTM2A				http://www.informatics.jax.org/searchtool/Search.do?query=NUTM2A&submit=Quick%0D%15296ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NUTM2A
10_101.305_148.305	Chr10:78740262-120743937	1.191	NUTM2B	ENSG00000188199	NUT family member 2B	chr10:81462983-81474437		Endometrial stromal sarcoma	 					http://www.genecards.org/index.php?path=/Search/keyword/NUTM2B				http://www.informatics.jax.org/searchtool/Search.do?query=NUTM2B&submit=Quick%0D%15987ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NUTM2B
10_101.305_148.305	Chr10:78740262-120743937	1.191	NUTM2D	ENSG00000214562	NUT family member 2D	chr10:89117425-89130452			 					http://www.genecards.org/index.php?path=/Search/keyword/NUTM2D				http://www.informatics.jax.org/searchtool/Search.do?query=NUTM2D&submit=Quick%0D%18255ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NUTM2D
10_101.305_148.305	Chr10:78740262-120743937	1.191	NUTM2E	ENSG00000228570		chr10:81601114-81610632		Clear cell sarcoma of kidney	 					http://www.genecards.org/index.php?path=/Search/keyword/NUTM2E				http://www.informatics.jax.org/searchtool/Search.do?query=NUTM2E&submit=Quick%0D%18841ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=NUTM2E
10_101.305_148.305	Chr10:78740262-120743937	1.191	OPALIN	ENSG00000197430	oligodendrocytic myelin paranodal and inner loop protein	chr10:98102973-98119092			Mice homozygous for a knock-out allele show increased exploratory activity in a novel environment.			GO:0005794;Golgi apparatus;IDA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0044291;cell-cell contact zone;IEA		http://www.genecards.org/index.php?path=/Search/keyword/OPALIN			https://www.ncbi.nlm.nih.gov/omim/?term=617200	http://www.informatics.jax.org/searchtool/Search.do?query=OPALIN&submit=Quick%0D%16625ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OPALIN
10_101.305_148.305	Chr10:78740262-120743937	1.191	OPN4	ENSG00000122375	opsin 4	chr10:88414314-88426605	Opsins are members of the guanine nucleotide-binding protein (G protein)-coupled receptor superfamily. This gene encodes a photoreceptive opsin protein that is expressed within the ganglion and amacrine cell layers of the retina. In mouse, retinal ganglion cell axons expressing this gene projected to the suprachiasmatic nucleus and other brain nuclei involved in circadian photoentrainment. In mouse, this protein is coupled to a transient receptor potential (TRP) ion channel through a G protein signaling pathway and produces a physiologic light response via membrane depolarization and increased intracellular calcium. The protein functions as a sensory photopigment and may also have photoisomerase activity. Experiments with knockout mice indicate that this gene attenuates, but does not abolish, photoentrainment. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]	Alcoholism; Alzheimer's disease ; metabolic syndrome; null	Homozygous inactivation of this gene results in absent intrinsic inner retinal photosensitivity, abnormal pupillary reflex, and abnormal circadian rhythms.	Opsins	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007601;visual perception;IEA|GO:0007602;phototransduction;IDA|GO:0016056;rhodopsin mediated signaling pathway;IEA|GO:0018298;protein-chromophore linkage;IEA|GO:0042752;regulation of circadian rhythm;ISS|GO:0048511;rhythmic process;IEA|GO:0050896;response to stimulus;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0097381;photoreceptor disc membrane;TAS	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0005502;11-cis retinal binding;IDA|GO:0008020;G-protein coupled photoreceptor activity;IDA|GO:0009881;photoreceptor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/OPN4	https://www.uniprot.org/uniprot/Q9UHM6		https://www.ncbi.nlm.nih.gov/omim/?term=606665	http://www.informatics.jax.org/searchtool/Search.do?query=OPN4&submit=Quick%0D%5403ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OPN4
2_252.744_266.744	Chr2:235528138-241561721	0.223	OR6B2	ENSG00000182083		chr2:240968841-240969906	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]		 	Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA|GO:0005549;odorant binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/OR6B2				http://www.informatics.jax.org/searchtool/Search.do?query=OR6B2&submit=Quick%0D%14713ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR6B2
2_252.744_266.744	Chr2:235528138-241561721	0.223	OR6B3	ENSG00000178586	olfactory receptor family 6 subfamily B member 3	chr2:240984494-240985489	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]		 	Olfactory Signaling Pathway	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007608;sensory perception of smell;IEA|GO:0050896;response to stimulus;IEA|GO:0050911;detection of chemical stimulus involved in sensory perception of smell;IEA	GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;IEA|GO:0004984;olfactory receptor activity;IBA|GO:0005549;odorant binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/OR6B3				http://www.informatics.jax.org/searchtool/Search.do?query=OR6B3&submit=Quick%0D%14203ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OR6B3
2_252.744_266.744	Chr2:235528138-241561721	0.223	OTOS	ENSG00000178602	otospiralin	chr2:241078446-241083979	Otospiralin is synthesized by nonsensory cells (fibrocytes) of the inner ear, and downregulation of otospiralin in guinea pigs leads to deafness (Lavigne-Rebillard et al., 2003 [PubMed 12687421]).[supplied by OMIM, Mar 2008]	Erythrocyte Count; Lipids; Schizophrenia; Triglycerides	Homozygous null mice display decreased endocochlear potentials and shrunken type II and IV cochlear fibrocytes.		GO:0007605;sensory perception of sound;IEA	GO:0005576;extracellular region;IEA		http://www.genecards.org/index.php?path=/Search/keyword/OTOS			https://www.ncbi.nlm.nih.gov/omim/?term=607877	http://www.informatics.jax.org/searchtool/Search.do?query=OTOS&submit=Quick%0D%14206ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=OTOS
22_4.194_23.194	Chr22:17733575-25291782	0.374	P2RX6	ENSG00000099957	purinergic receptor P2X 6	chr22:21364097-21383119	The protein encoded by this gene belongs to the family of P2X receptors, which are ATP-gated ion channels and mediate rapid and selective permeability to cations. This gene is predominantly expressed in skeletal muscle, and regulated by p53. The encoded protein is associated with VE-cadherin at the adherens junctions of human umbilical vein endothelial cells. Alternative splicing results in multiple transcript variants. A related pseudogene, which is also located on chromosome 22, has been identified. [provided by RefSeq, Apr 2009]	Celiac Disease|; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Coronary Disease|Coronary heart disease|Myocardial Infarction; Hypertension	Homozygous mutant mice exhibit a significant increase in thermal response latency during hot plate testing, and are resistant to metrazol-induced seizures.	Platelet homeostasis	GO:0006810;transport;TAS|GO:0006811;ion transport;IEA|GO:0006936;muscle contraction;TAS|GO:0007165;signal transduction;TAS|GO:0007596;blood coagulation;TAS|GO:0033198;response to ATP;IEA|GO:0035590;purinergic nucleotide receptor signaling pathway;IEA|GO:0051260;protein homooligomerization;IPI|GO:0060079;excitatory postsynaptic potential;IEA|GO:0098655;cation transmembrane transport;IEA	GO:0005639;integral component of nuclear inner membrane;IBA|GO:0005737;cytoplasm;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IDA|GO:0098794;postsynapse;IEA	GO:0001614;purinergic nucleotide receptor activity;NAS|GO:0004888;transmembrane signaling receptor activity;TAS|GO:0004931;extracellular ATP-gated cation channel activity;NAS|GO:0005216;ion channel activity;IEA|GO:0005524;ATP binding;NAS|GO:0015267;channel activity;TAS|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/P2RX6	https://www.uniprot.org/uniprot/O15547		https://www.ncbi.nlm.nih.gov/omim/?term=608077	http://www.informatics.jax.org/searchtool/Search.do?query=P2RX6&submit=Quick%0D%2360ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=P2RX6
10_101.305_148.305	Chr10:78740262-120743937	1.191	PANK1	ENSG00000152782	pantothenate kinase 1	chr10:91342745-91405215	This gene encodes a member of the pantothenate kinase family. Pantothenate kinases are key regulatory enzymes in the biosynthesis of coenzyme A (CoA). The encoded protein catalyzes the first and rate-limiting enzymatic reaction in CoA biosynthesis and is regulated by CoA through feedback inhibition. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. This gene and an intronic miRNA on the same strand are co-regulated by the tumor suppressor p53 (see PMID 20833636). [provided by RefSeq, Apr 2011]	Tobacco Use Disorder; Insulin; metabolic traits; Alzheimer's disease ; other metabolic traits; HIV Infections|[X]Human immunodeficiency virus disease	Homozygous mutant has increased body weight, polyphagia, decreased serum triglyceride and glucose levels after fasting.	Coenzyme A biosynthesis	GO:0009108;coenzyme biosynthetic process;TAS|GO:0015937;coenzyme A biosynthetic process;IEA|GO:0016310;phosphorylation;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0030118;clathrin coat;IEA|GO:0055037;recycling endosome;IEA|GO:0071944;cell periphery;IEA	GO:0000166;nucleotide binding;IEA|GO:0004594;pantothenate kinase activity;TAS|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PANK1	https://www.uniprot.org/uniprot/Q8TE04		https://www.ncbi.nlm.nih.gov/omim/?term=606160	http://www.informatics.jax.org/searchtool/Search.do?query=PANK1&submit=Quick%0D%9592ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PANK1
10_101.305_148.305	Chr10:78740262-120743937	1.191	PAPSS2	ENSG00000198682	3'-phosphoadenosine 5'-phosphosulfate synthase 2	chr10:89419370-89507462	Sulfation is a common modification of endogenous (lipids, proteins, and carbohydrates) and exogenous (xenobiotics and drugs) compounds. In mammals, the sulfate source is 3'-phosphoadenosine 5'-phosphosulfate (PAPS), created from ATP and inorganic sulfate. Two different tissue isoforms encoded by different genes synthesize PAPS. This gene encodes one of the two PAPS synthetases. Defects in this gene cause the Pakistani type of spondyloepimetaphyseal dysplasia. Two alternatively spliced transcript variants that encode different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]	Alzheimer's disease ; Exercise; exercise (leisure time); osteoarthritis; Tobacco Use Disorder; null	Mice homozygous for mutation s in this gene display delayed growth and shorter limbs and other abnormalities in bone formation.	Metabolism of ingested H2SeO4 and H2SeO3 into H2Se	GO:0000103;sulfate assimilation;IEA|GO:0001501;skeletal system development;TAS|GO:0007596;blood coagulation;IEA|GO:0008152;metabolic process;IEA|GO:0016310;phosphorylation;IEA|GO:0050428;3'-phosphoadenosine 5'-phosphosulfate biosynthetic process;TAS|GO:0060348;bone development;IEA	GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0003824;catalytic activity;IEA|GO:0004020;adenylylsulfate kinase activity;TAS|GO:0004781;sulfate adenylyltransferase (ATP) activity;TAS|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PAPSS2		https://hpo.jax.org/app/browse/search?q=PAPSS2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603005	http://www.informatics.jax.org/searchtool/Search.do?query=PAPSS2&submit=Quick%0D%16960ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PAPSS2
10_101.305_148.305	Chr10:78740262-120743937	1.191	PAX2	ENSG00000075891	paired box 2	chr10:102495360-102589698	PAX2 encodes paired box gene 2, one of many human homologues of the Drosophila melanogaster gene prd. The central feature of this transcription factor gene family is the conserved DNA-binding paired box domain. PAX2 is believed to be a target of transcriptional supression by the tumor suppressor gene WT1. Mutations within PAX2 have been shown to result in optic nerve colobomas and renal hypoplasia. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2014]	isolated colobomas or colobomas associated; Henoch-Schonlein purpura nephritis; kidney size, newborn; Alzheimer's disease ; Alzheimer's Disease; Vesico-Ureteral Reflux	Homozygous targeted and spontaneous null mutants show impaired to absent development of optic nerve, retina, kidney, ureters, genital tracts, inner ear and midhindbrain. Heterozygotes show milder defects of the optic nerve, retina and kidney.		GO:0001655;urogenital system development;ISS|GO:0001658;branching involved in ureteric bud morphogenesis;IEP|GO:0001709;cell fate determination;ISS|GO:0001823;mesonephros development;ISS|GO:0001843;neural tube closure;ISS|GO:0002072;optic cup morphogenesis involved in camera-type eye development;ISS|GO:0003337;mesenchymal to epithelial transition involved in metanephros morphogenesis;ISS|GO:0003406;retinal pigment epithelium development;ISS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0007275;multicellular organism development;IEA|GO:0007409;axonogenesis;TAS|GO:0007501;mesodermal cell fate specification;ISS|GO:0007568;aging;IEA|GO:0007601;visual perception;TAS|GO:0008284;positive regulation of cell proliferation;IEA|GO:0010001;glial cell differentiation;ISS|GO:0021554;optic nerve development;ISS|GO:0021631;optic nerve morphogenesis;ISS|GO:0021633;optic nerve structural organization;ISS|GO:0021650;vestibulocochlear nerve formation;ISS|GO:0030154;cell differentiation;IEA|GO:0031667;response to nutrient levels;IEA|GO:0035566;regulation of metanephros size;IMP|GO:0035799;ureter maturation;ISS|GO:0039003;pronephric field specification;ISS|GO:0042472;inner ear morphogenesis;ISS|GO:0043010;camera-type eye development;ISS|GO:0043066;negative regulation of apoptotic process;IDA|GO:0043069;negative regulation of programmed cell death;ISS|GO:0043154;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;IDA|GO:0043491;protein kinase B signaling;ISS|GO:0045892;negative regulation of transcription, DNA-templated;IMP|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0045918;negative regulation of cytolysis;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048513;animal organ development;IEA|GO:0048793;pronephros development;ISS|GO:0048854;brain morphogenesis;ISS|GO:0048863;stem cell differentiation;ISS|GO:0050679;positive regulation of epithelial cell proliferation;IDA|GO:0055114;oxidation-reduction process;IEA|GO:0060231;mesenchymal to epithelial transition;ISS|GO:0061360;optic chiasma development;ISS|GO:0070301;cellular response to hydrogen peroxide;ISS|GO:0071300;cellular response to retinoic acid;ISS|GO:0071333;cellular response to glucose stimulus;ISS|GO:0071364;cellular response to epidermal growth factor stimulus;IEA|GO:0072075;metanephric mesenchyme development;ISS|GO:0072108;positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis;ISS|GO:0072162;metanephric mesenchymal cell differentiation;ISS|GO:0072179;nephric duct formation;ISS|GO:0072189;ureter development;ISS|GO:0072205;metanephric collecting duct development;ISS|GO:0072207;metanephric epithelium development;IEP|GO:0072221;metanephric distal convoluted tubule development;ISS|GO:0072289;metanephric nephron tubule formation;ISS|GO:0072300;positive regulation of metanephric glomerulus development;ISS|GO:0072305;negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis;ISS|GO:0072307;regulation of metanephric nephron tubule epithelial cell differentiation;ISS|GO:0072593;reactive oxygen species metabolic process;ISS|GO:0090102;cochlea development;ISS|GO:0090103;cochlea morphogenesis;ISS|GO:0090190;positive regulation of branching involved in ureteric bud morphogenesis;ISS|GO:1900212;negative regulation of mesenchymal cell apoptotic process involved in metanephros development;ISS|GO:1900215;negative regulation of apoptotic process involved in metanephric collecting duct development;ISS|GO:1900218;negative regulation of apoptotic process involved in metanephric nephron tubule development;ISS|GO:2000378;negative regulation of reactive oxygen species metabolic process;IDA|GO:2000594;positive regulation of metanephric DCT cell differentiation;ISS|GO:2000597;positive regulation of optic nerve formation;ISS	GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005764;lysosome;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005815;microtubule organizing center;IDA|GO:0032993;protein-DNA complex;ISS|GO:0034451;centriolar satellite;IDA|GO:0043234;protein complex;ISS	GO:0000987;core promoter proximal region sequence-specific DNA binding;IDA|GO:0003677;DNA binding;TAS|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI|GO:0016175;superoxide-generating NADPH oxidase activity;ISS|GO:0044212;transcription regulatory region DNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PAX2	https://www.uniprot.org/uniprot/Q02962	https://hpo.jax.org/app/browse/search?q=PAX2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=167409	http://www.informatics.jax.org/searchtool/Search.do?query=PAX2&submit=Quick%0D%1567ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PAX2
10_101.305_148.305	Chr10:78740262-120743937	1.191	PCGF5	ENSG00000180628	polycomb group ring finger 5	chr10:92979908-93044088		Alzheimer's disease 	Bone marrow cells from mice homozygous for a conditional allele exhibit normal hematopoietic and progenitor cell function.	RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA	GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005813;centrosome;IDA|GO:0031519;PcG protein complex;IDA	GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PCGF5			https://www.ncbi.nlm.nih.gov/omim/?term=617407	http://www.informatics.jax.org/searchtool/Search.do?query=PCGF5&submit=Quick%0D%14506ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCGF5
10_101.305_148.305	Chr10:78740262-120743937	1.191	PCGF6	ENSG00000156374	polycomb group ring finger 6	chr10:105062553-105110891	The protein encoded by this gene contains a RING finger motif, which is most closely related to those of polycomb group (PcG) proteins RNF110/MEL-18 and BMI1. PcG proteins are known to form protein complexes and function as transcription repressors. This protein has been shown to interact with some PcG proteins and act as a transcription repressor. The activity of this protein is found to be regulated by cell cycle dependent phosphorylation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]		Mice homozygous for a knock-out allele show early embryonic lethality associated with abnormal pre-implantation development, embryonic growth retardation, and defects in anterior-posterior axis specification and placental development.		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA	GO:0005634;nucleus;IDA|GO:0031519;PcG protein complex;IDA|GO:0035102;PRC1 complex;IDA	GO:0000977;RNA polymerase II regulatory region sequence-specific DNA binding;IEA|GO:0001227;transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003677;DNA binding;IDA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PCGF6	https://www.uniprot.org/uniprot/Q9BYE7		https://www.ncbi.nlm.nih.gov/omim/?term=607816	http://www.informatics.jax.org/searchtool/Search.do?query=PCGF6&submit=Quick%0D%9971ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PCGF6
10_101.305_148.305	Chr10:78740262-120743937	1.191	PDCD11	ENSG00000148843	programmed cell death 11	chr10:105156405-105206049	PDCD11 is a NF-kappa-B (NFKB1; 164011)-binding protein that colocalizes with U3 RNA (MIM 180710) in the nucleolus and is required for rRNA maturation and generation of 18S rRNA (Sweet et al., 2003 [PubMed 14624448]; Sweet et al., 2008 [PubMed 17654514]).[supplied by OMIM, Oct 2008]		 	Major pathway of rRNA processing in the nucleolus and cytosol	GO:0006364;rRNA processing;TAS|GO:0006396;RNA processing;IEA|GO:0006397;mRNA processing;IEA	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005730;nucleolus;IEA|GO:0005829;cytosol;IEA|GO:0032040;small-subunit processome;IBA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008134;transcription factor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PDCD11	https://www.uniprot.org/uniprot/Q14690		https://www.ncbi.nlm.nih.gov/omim/?term=612333	http://www.informatics.jax.org/searchtool/Search.do?query=PDCD11&submit=Quick%0D%9170ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDCD11
10_101.305_148.305	Chr10:78740262-120743937	1.191	PDCD4	ENSG00000150593	programmed cell death 4	chr10:112631565-112659764	This gene is a tumor suppressor and encodes a protein that binds to the eukaryotic translation initiation factor 4A1 and inhibits its function by preventing RNA binding. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]	Alzheimer's disease ; longevity	Mice homozygous for a null allele have a higher prevalence of B cell derived lymphomas, multi-organ cysts and decreased susceptibility to experimentally induced autoimmune encephalomyelitis and type 1 diabetes.	Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation	GO:0006915;apoptotic process;TAS|GO:0007569;cell aging;IDA|GO:0030509;BMP signaling pathway;IDA|GO:0034393;positive regulation of smooth muscle cell apoptotic process;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0043508;negative regulation of JUN kinase activity;ISS|GO:0045786;negative regulation of cell cycle;NAS|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0050729;positive regulation of inflammatory response;IEA|GO:0051246;regulation of protein metabolic process;IEA|GO:0060940;epithelial to mesenchymal transition involved in cardiac fibroblast development;IEA|GO:0071222;cellular response to lipopolysaccharide;IEA|GO:1900016;negative regulation of cytokine production involved in inflammatory response;IEA|GO:1901224;positive regulation of NIK/NF-kappaB signaling;IMP|GO:1904761;negative regulation of myofibroblast differentiation;IMP|GO:1905064;negative regulation of vascular smooth muscle cell differentiation;IDA|GO:2000353;positive regulation of endothelial cell apoptotic process;IMP	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA	GO:0003723;RNA binding;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PDCD4	https://www.uniprot.org/uniprot/Q53EL6		https://www.ncbi.nlm.nih.gov/omim/?term=608610	http://www.informatics.jax.org/searchtool/Search.do?query=PDCD4&submit=Quick%0D%9329ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDCD4
10_101.305_148.305	Chr10:78740262-120743937	1.191	PDE6C	ENSG00000095464	phosphodiesterase 6C	chr10:95372345-95425767	This gene encodes the alpha-prime subunit of cone phosphodiesterase, which is composed of a homodimer of two alpha-prime subunits and 3 smaller proteins of 11, 13, and 15 kDa. Mutations in this gene are associated with cone dystrophy type 4 (COD4). [provided by RefSeq, Mar 2010]	Tobacco Use Disorder; Glucose; Type 2 Diabetes| edema | rosiglitazone; Alzheimer's disease 	A spontaneous mutation in this gene results in abnormal cone photoreceptor function.		GO:0007165;signal transduction;IEA|GO:0007601;visual perception;TAS|GO:0007603;phototransduction, visible light;IEA|GO:0046549;retinal cone cell development;IEA|GO:0050896;response to stimulus;IEA|GO:0050953;sensory perception of light stimulus;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0004114;3',5'-cyclic-nucleotide phosphodiesterase activity;IEA|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0030553;cGMP binding;IEA|GO:0046872;metal ion binding;IEA|GO:0047555;3',5'-cyclic-GMP phosphodiesterase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDE6C	https://www.uniprot.org/uniprot/P51160	https://hpo.jax.org/app/browse/search?q=PDE6C&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600827	http://www.informatics.jax.org/searchtool/Search.do?query=PDE6C&submit=Quick%0D%2247ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDE6C
10_101.305_148.305	Chr10:78740262-120743937	1.191	PDLIM1	ENSG00000107438	PDZ and LIM domain 1	chr10:96997329-97050781	This gene encodes a member of the enigma protein family. The protein contains two protein interacting domains, a PDZ domain at the amino terminal end and one to three LIM domains at the carboxyl terminal. It is a cytoplasmic protein associated with the cytoskeleton. The protein may function as an adapter to bring other LIM-interacting proteins to the cytoskeleton. Pseudogenes associated with this gene are located on chromosomes 3, 14 and 17. [provided by RefSeq, Oct 2012]	Crohn's disease; Body Weight; Chronic renal failure|Kidney Failure, Chronic; Alzheimer's disease 	Mice homozygous for a gene trap allele exhibit enhanced platelet response to GPVI agonists and thrombosis.		GO:0001666;response to hypoxia;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006979;response to oxidative stress;TAS|GO:0098609;cell-cell adhesion;IEA	GO:0005667;transcription factor complex;IEA|GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005913;cell-cell adherens junction;IDA|GO:0005925;focal adhesion;IDA	GO:0003713;transcription coactivator activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA|GO:0098641;cadherin binding involved in cell-cell adhesion;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PDLIM1	https://www.uniprot.org/uniprot/O00151		https://www.ncbi.nlm.nih.gov/omim/?term=605900	http://www.informatics.jax.org/searchtool/Search.do?query=PDLIM1&submit=Quick%0D%3606ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDLIM1
10_101.305_148.305	Chr10:78740262-120743937	1.191	PDZD7	ENSG00000186862	PDZ domain containing 7	chr10:102767440-102790890	This gene encodes a ciliary protein homologous to proteins which are mutated in Usher syndrome patients, and mutations and translocations involving this gene have been associated with two types of Usher syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]	Alcoholism	Mice homozygous for a knock-out allele exhibit profound deafness due to abnormal outer cochlear hair cell morphology and function.		GO:0045184;establishment of protein localization;IEA|GO:0050910;detection of mechanical stimulus involved in sensory perception of sound;IEA|GO:0060088;auditory receptor cell stereocilium organization;IEA|GO:0060117;auditory receptor cell development;IEA	GO:0002141;stereocilia ankle link;IEA|GO:0005615;extracellular space;IDA|GO:0005634;nucleus;IDA|GO:0005929;cilium;IDA|GO:0042995;cell projection;IEA|GO:1990696;USH2 complex;IEA	GO:0005515;protein binding;IPI|GO:0042803;protein homodimerization activity;IEA|GO:0046982;protein heterodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDZD7		https://hpo.jax.org/app/browse/search?q=PDZD7&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=612971	http://www.informatics.jax.org/searchtool/Search.do?query=PDZD7&submit=Quick%0D%15724ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDZD7
10_101.305_148.305	Chr10:78740262-120743937	1.191	PDZD8	ENSG00000165650	PDZ domain containing 8	chr10:119040000-119134978		Alzheimer's disease 	 		GO:0007010;cytoskeleton organization;IMP|GO:0016032;viral process;IEA|GO:0022604;regulation of cell morphogenesis;IMP|GO:0035556;intracellular signal transduction;IEA	GO:0005622;intracellular;IEA|GO:0016020;membrane;IDA	GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PDZD8			https://www.ncbi.nlm.nih.gov/omim/?term=614235	http://www.informatics.jax.org/searchtool/Search.do?query=PDZD8&submit=Quick%0D%11590ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PDZD8
2_252.744_266.744	Chr2:235528138-241561721	0.223	PER2	ENSG00000132326	period circadian clock 2	chr2:239152679-239198743	This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene may increase the risk of getting certain cancers and have been linked to sleep disorders. [provided by RefSeq, Jan 2014]	depression; obesity; prostate cancer; Chronobiology Disorders; Sleep Disorders; bipolar disorder; metabolic syndrome; Autism; cocaine abuse; Alcoholism; diurnal preference; schizophrenia | bipolar disorder; Alcoholism|Sleep Disorders; Type 2 Diabetes| edema | rosiglitazone	Homozygous null mutants have a partially functional circadian clock, exhibiting a short circadian period followed by loss of circadian rhythmicity in constant darkness.  Mutants are also deficient in DNA damage responses and show increased sensitivity togamma radiation and tumor development.	Circadian Clock	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0002931;response to ischemia;ISS|GO:0005978;glycogen biosynthetic process;ISS|GO:0006094;gluconeogenesis;ISS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006631;fatty acid metabolic process;ISS|GO:0007623;circadian rhythm;TAS|GO:0019229;regulation of vasoconstriction;ISS|GO:0019249;lactate biosynthetic process;ISS|GO:0031397;negative regulation of protein ubiquitination;ISS|GO:0032922;circadian regulation of gene expression;ISS|GO:0042752;regulation of circadian rhythm;ISS|GO:0042754;negative regulation of circadian rhythm;ISS|GO:0045892;negative regulation of transcription, DNA-templated;IEA|GO:0048511;rhythmic process;IEA|GO:0050767;regulation of neurogenesis;ISS|GO:0050796;regulation of insulin secretion;ISS|GO:0050872;white fat cell differentiation;ISS|GO:0051726;regulation of cell cycle;ISS|GO:0051946;regulation of glutamate uptake involved in transmission of nerve impulse;ISS|GO:0070345;negative regulation of fat cell proliferation;ISS|GO:0070932;histone H3 deacetylation;ISS|GO:0097167;circadian regulation of translation;ISS|GO:2000678;negative regulation of transcription regulatory region DNA binding;ISS	GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IEA|GO:0005737;cytoplasm;IEA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0000976;transcription regulatory region sequence-specific DNA binding;ISS|GO:0000989;transcription factor activity, transcription factor binding;IEA|GO:0003713;transcription coactivator activity;ISS|GO:0005515;protein binding;IPI|GO:0043130;ubiquitin binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/PER2	https://www.uniprot.org/uniprot/O15055	https://hpo.jax.org/app/browse/search?q=PER2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=603426	http://www.informatics.jax.org/searchtool/Search.do?query=PER2&submit=Quick%0D%6651ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PER2
22_4.194_23.194	Chr22:17733575-25291782	0.374	PEX26	ENSG00000215193	peroxisomal biogenesis factor 26	chr22:18560689-18613905	This gene belongs to the peroxin-26 gene family. It is probably required for protein import into peroxisomes. It anchors PEX1 and PEX6 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes. Defects in this gene are the cause of peroxisome biogenesis disorder complementation group 8 (PBD-CG8). PBD refers to a group of peroxisomal disorders arising from a failure of protein import into the peroxisomal membrane or matrix. The PBD group is comprised of four disorders: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2010]	peroxisome-biogenesis disorder	 		GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0016558;protein import into peroxisome matrix;IDA|GO:0045046;protein import into peroxisome membrane;IEA	GO:0005777;peroxisome;IDA|GO:0005778;peroxisomal membrane;IEA|GO:0005779;integral component of peroxisomal membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI|GO:0008022;protein C-terminus binding;IPI|GO:0032403;protein complex binding;IDA|GO:0051117;ATPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PEX26		https://hpo.jax.org/app/browse/search?q=PEX26&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608666	http://www.informatics.jax.org/searchtool/Search.do?query=PEX26&submit=Quick%0D%18317ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PEX26
10_101.305_148.305	Chr10:78740262-120743937	1.191	PGAM1	ENSG00000171314	phosphoglycerate mutase 1	chr10:99185917-99193198	The protein encoded by this gene is a mutase that catalyzes the reversible reaction of 3-phosphoglycerate (3-PGA) to 2-phosphoglycerate (2-PGA) in the glycolytic pathway. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]		 	Gluconeogenesis	GO:0006094;gluconeogenesis;TAS|GO:0006096;glycolytic process;IEA|GO:0006110;regulation of glycolytic process;IDA|GO:0008152;metabolic process;IEA|GO:0043312;neutrophil degranulation;TAS|GO:0043456;regulation of pentose-phosphate shunt;IDA|GO:0045730;respiratory burst;IDA|GO:0061621;canonical glycolysis;TAS	GO:0005576;extracellular region;TAS|GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA|GO:0034774;secretory granule lumen;TAS|GO:0043209;myelin sheath;IEA|GO:0070062;extracellular exosome;IDA|GO:1904813;ficolin-1-rich granule lumen;TAS	GO:0003824;catalytic activity;IEA|GO:0004082;bisphosphoglycerate mutase activity;IEA|GO:0004619;phosphoglycerate mutase activity;EXP|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016853;isomerase activity;IEA|GO:0016868;intramolecular transferase activity, phosphotransferases;IEA|GO:0019901;protein kinase binding;IPI|GO:0046538;2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/PGAM1			https://www.ncbi.nlm.nih.gov/omim/?term=172250	http://www.informatics.jax.org/searchtool/Search.do?query=PGAM1&submit=Quick%0D%12900ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PGAM1
10_101.305_148.305	Chr10:78740262-120743937	1.191	PI4K2A	ENSG00000155252	phosphatidylinositol 4-kinase type 2 alpha	chr10:99344131-99433667	Phosphatidylinositolpolyphosphates (PtdInsPs) are centrally involved in many biologic processes, ranging from cell growth and organization of the actin cytoskeleton to endo- and exocytosis. PI4KII phosphorylates PtdIns at the D-4 position, an essential step in the biosynthesis of PtdInsPs (Barylko et al., 2001 [PubMed 11244087]).[supplied by OMIM, Mar 2008]	Alzheimer's disease 	Mice homozygous for a gene trap allele develop a progressive neurologic disease typified by urinary incontinence, tremor, limb weakness, weight loss, cerebellar gliosis, Purkinje cell loss, degeneration of spinal cord axons and premature death. Mutant males are sterile while females are subfertile.	Synthesis of PIPs at the early endosome membrane	GO:0002561;basophil degranulation;IEA|GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0007030;Golgi organization;IBA|GO:0007032;endosome organization;IBA|GO:0016310;phosphorylation;IEA|GO:0046854;phosphatidylinositol phosphorylation;IDA	GO:0005739;mitochondrion;IEA|GO:0005765;lysosomal membrane;IDA|GO:0005768;endosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005802;trans-Golgi network;IBA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IEA|GO:0005887;integral component of plasma membrane;IDA|GO:0016020;membrane;IDA|GO:0030054;cell junction;IEA|GO:0030425;dendrite;IEA|GO:0030672;synaptic vesicle membrane;IEA|GO:0031083;BLOC-1 complex;IDA|GO:0031224;intrinsic component of membrane;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0031901;early endosome membrane;IEA|GO:0035838;growing cell tip;IEA|GO:0042734;presynaptic membrane;IEA|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0043204;perikaryon;IEA|GO:0043231;intracellular membrane-bounded organelle;IEA|GO:0043234;protein complex;IEA|GO:0044231;host cell presynaptic membrane;IEA|GO:0045121;membrane raft;IEA|GO:0045202;synapse;IEA|GO:0070382;exocytic vesicle;IEA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;NAS|GO:0004430;1-phosphatidylinositol 4-kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IDA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0032403;protein complex binding;IEA|GO:0035651;AP-3 adaptor complex binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PI4K2A	https://www.uniprot.org/uniprot/Q9BTU6		https://www.ncbi.nlm.nih.gov/omim/?term=609763	http://www.informatics.jax.org/searchtool/Search.do?query=PI4K2A&submit=Quick%0D%9850ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PI4K2A
22_4.194_23.194	Chr22:17733575-25291782	0.374	PI4KA	ENSG00000241973	phosphatidylinositol 4-kinase alpha	chr22:21061979-21213705	This gene encodes a phosphatidylinositol (PI) 4-kinase which catalyzes the first committed step in the biosynthesis of phosphatidylinositol 4,5-bisphosphate. The mammalian PI 4-kinases have been classified into two types, II and III, based on their molecular mass, and modulation by detergent and adenosine. The protein encoded by this gene is a type III enzyme that is not inhibited by adenosine. [provided by RefSeq, Sep 2014]	Schizophrenia; bipolar disorder; schizophrenia; Type 2 Diabetes| edema | rosiglitazone; Amphetamine-Related Disorders|	Mice homozygous for a targeted knock-out or knock-in conditionally activated exhibit premature death associated with degeneration of mucosal cells in the stomach and intestines. Mice homozygous for a knock-out allele exhibit early embryonic lethality.	Synthesis of PIPs at the Golgi membrane	GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0007165;signal transduction;NAS|GO:0016310;phosphorylation;IDA|GO:0039694;viral RNA genome replication;IMP|GO:0044803;multi-organism membrane organization;IMP|GO:0046786;viral replication complex formation and maintenance;IMP|GO:0046854;phosphatidylinositol phosphorylation;ISS|GO:0048015;phosphatidylinositol-mediated signaling;IEA	GO:0005622;intracellular;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IDA|GO:0019034;viral replication complex;IMP|GO:0030660;Golgi-associated vesicle membrane;ISS|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0004430;1-phosphatidylinositol 4-kinase activity;TAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IDA|GO:0016740;transferase activity;IEA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PI4KA		https://hpo.jax.org/app/browse/search?q=PI4KA&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600286	http://www.informatics.jax.org/searchtool/Search.do?query=PI4KA&submit=Quick%0D%19701ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PI4KA
10_101.305_148.305	Chr10:78740262-120743937	1.191	PIK3AP1	ENSG00000155629	phosphoinositide-3-kinase adaptor protein 1	chr10:98353069-98480271		prostate cancer; Alzheimer's disease 	Mice homozygous for disruptions in this gene have abnormalities in B cell maturation.	Antigen activates B Cell Receptor (BCR) leading to generation of second messengers	GO:0014066;regulation of phosphatidylinositol 3-kinase signaling;TAS|GO:0014068;positive regulation of phosphatidylinositol 3-kinase signaling;ISS|GO:0034134;toll-like receptor 2 signaling pathway;ISS|GO:0034142;toll-like receptor 4 signaling pathway;ISS|GO:0034154;toll-like receptor 7 signaling pathway;ISS|GO:0034162;toll-like receptor 9 signaling pathway;ISS|GO:0046854;phosphatidylinositol phosphorylation;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0050727;regulation of inflammatory response;ISS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA	GO:0036312;phosphatidylinositol 3-kinase regulatory subunit binding;ISS|GO:0042802;identical protein binding;IEA|GO:0046934;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/PIK3AP1	https://www.uniprot.org/uniprot/Q6ZUJ8		https://www.ncbi.nlm.nih.gov/omim/?term=607942	http://www.informatics.jax.org/searchtool/Search.do?query=PIK3AP1&submit=Quick%0D%9884ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PIK3AP1
10_101.305_148.305	Chr10:78740262-120743937	1.191	PITX3	ENSG00000107859	paired like homeodomain 3	chr10:103989943-104001231	This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family act as transcription factors. This protein is involved in lens formation during eye development. Mutations of this gene have been associated with anterior segment mesenchymal dysgenesis and congenital cataracts. [provided by RefSeq, Jul 2008]	Autism; Schizophrenia; Alzheimer's disease ; Parkinson's disease; Parkinson's disease 	Mutations in this gene cause variable defects in many aspects of ocular development and loss of a subset of midbrain dopaminergic neurons. Observed phenotypes may include growth abnormalities, alterations in liver, lung, and bone function, and sex-specific neurobehavioral anomalies.		GO:0002088;lens development in camera-type eye;IEA|GO:0002089;lens morphogenesis in camera-type eye;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007275;multicellular organism development;IEA|GO:0007568;aging;IEA|GO:0007626;locomotory behavior;IEA|GO:0009887;animal organ morphogenesis;TAS|GO:0010468;regulation of gene expression;IEA|GO:0014014;negative regulation of gliogenesis;IEA|GO:0030901;midbrain development;IEA|GO:0035902;response to immobilization stress;IEA|GO:0042220;response to cocaine;IEA|GO:0043278;response to morphine;IEA|GO:0043525;positive regulation of neuron apoptotic process;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA|GO:0048666;neuron development;IEA|GO:0050768;negative regulation of neurogenesis;IEA|GO:0070306;lens fiber cell differentiation;IEA|GO:0071542;dopaminergic neuron differentiation;TAS|GO:1904313;response to methamphetamine hydrochloride;IEA|GO:1904935;positive regulation of cell proliferation in midbrain;IEA|GO:1990792;cellular response to glial cell derived neurotrophic factor;IEA	GO:0005634;nucleus;IEA|GO:0043025;neuronal cell body;IEA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PITX3	https://www.uniprot.org/uniprot/O75364	https://hpo.jax.org/app/browse/search?q=PITX3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602669	http://www.informatics.jax.org/searchtool/Search.do?query=PITX3&submit=Quick%0D%3648ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PITX3
22_4.194_23.194	Chr22:17733575-25291782	0.374	PIWIL3	ENSG00000184571	piwi like RNA-mediated gene silencing 3	chr22:25115001-25170687	This gene encodes a member of the PIWI subfamily of Argonaute family proteins. This subfamily of proteins contains a PAZ domain, found in proteins involved in RNA-mediated gene silencing, and a C-terminal Piwi domain. The encoded protein is thought to function in maintenance of germline cells. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]	Azoospermia|Oligospermia	Homozygotes for a targeted null mutation exhibit male sterility due to a block in spermatogenesis beginning at the round spermatid stage.		GO:0006417;regulation of translation;IEA|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0031047;gene silencing by RNA;IEA|GO:0051321;meiotic cell cycle;IEA	GO:0005737;cytoplasm;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PIWIL3			https://www.ncbi.nlm.nih.gov/omim/?term=610314	http://www.informatics.jax.org/searchtool/Search.do?query=PIWIL3&submit=Quick%0D%15235ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PIWIL3
10_101.305_148.305	Chr10:78740262-120743937	1.191	PKD2L1	ENSG00000107593	polycystin 2 like 1, transient receptor potential cation channel	chr10:102047903-102090243	This gene encodes a member of the polycystin protein family. The encoded protein contains multiple transmembrane domains, and cytoplasmic N- and C-termini. The protein may be an integral membrane protein involved in cell-cell/matrix interactions. This protein functions as a calcium-regulated nonselective cation channel. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]	Phospholipids; Metabolism; Alzheimer's disease 	Mice homozygous for a knock-out allele exhibit decreased chorda tympani nerve response to sour tastants.		GO:0001581;detection of chemical stimulus involved in sensory perception of sour taste;IEA|GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0006812;cation transport;IEA|GO:0006816;calcium ion transport;IEA|GO:0007224;smoothened signaling pathway;IEA|GO:0035725;sodium ion transmembrane transport;IDA|GO:0050915;sensory perception of sour taste;IMP|GO:0050982;detection of mechanical stimulus;IBA|GO:0070207;protein homotrimerization;IDA|GO:0070588;calcium ion transmembrane transport;IEA|GO:0071468;cellular response to acidic pH;IEA|GO:0071805;potassium ion transmembrane transport;IDA	GO:0005783;endoplasmic reticulum;IEA|GO:0005886;plasma membrane;IMP|GO:0005929;cilium;IEA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;NAS|GO:0034703;cation channel complex;IEA|GO:0034704;calcium channel complex;IDA|GO:0042995;cell projection;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0043235;receptor complex;IEA|GO:0060170;ciliary membrane;IEA|GO:0097730;non-motile cilium;IDA	GO:0005227;calcium activated cation channel activity;IDA|GO:0005261;cation channel activity;IDA|GO:0005262;calcium channel activity;IEA|GO:0005272;sodium channel activity;IDA|GO:0005509;calcium ion binding;IDA|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;IPI|GO:0008324;cation transmembrane transporter activity;IEA|GO:0015269;calcium-activated potassium channel activity;IDA|GO:0033040;sour taste receptor activity;IEA|GO:0042802;identical protein binding;IEA|GO:0051371;muscle alpha-actinin binding;IPI|GO:0051393;alpha-actinin binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PKD2L1	https://www.uniprot.org/uniprot/Q9P0L9		https://www.ncbi.nlm.nih.gov/omim/?term=604532	http://www.informatics.jax.org/searchtool/Search.do?query=PKD2L1&submit=Quick%0D%3619ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PKD2L1
10_101.305_148.305	Chr10:78740262-120743937	1.191	PLAC9	ENSG00000189129	placenta specific 9	chr10:81891438-81905115		Receptors, Tumor Necrosis Factor	 			GO:0005576;extracellular region;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PLAC9			https://www.ncbi.nlm.nih.gov/omim/?term=612857	http://www.informatics.jax.org/searchtool/Search.do?query=PLAC9&submit=Quick%0D%16186ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLAC9
10_101.305_148.305	Chr10:78740262-120743937	1.191	PLCE1	ENSG00000138193	phospholipase C epsilon 1	chr10:95753746-96092580	This gene encodes a phospholipase enzyme that catalyzes the hydrolysis of phosphatidylinositol-4,5-bisphosphate to generate two second messengers: inositol 1,4,5-triphosphate (IP3) and diacylglycerol (DAG). These second messengers subsequently regulate various processes affecting cell growth, differentiation, and gene expression. This enzyme is regulated by small monomeric GTPases of the Ras and Rho families and by heterotrimeric G proteins. In addition to its phospholipase C catalytic activity, this enzyme has an N-terminal domain with guanine nucleotide exchange (GEF) activity. Mutations in this gene cause early-onset nephrotic syndrome; characterized by proteinuria, edema, and diffuse mesangial sclerosis or focal and segmental glomerulosclerosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Sep 2009]	Stroke; Hypertension; HIV; Narcolepsy; Alzheimer's disease; Alcoholism; Esophageal Neoplasms; Stomach Neoplasms; Dengue Hemorrhagic Fever; Pulmonary Disease, Chronic Obstructive; Carcinoma, Squamous Cell|Esophageal Neoplasms|Oesophageal neoplasm|Squamous cell carcinoma; Glomerulosclerosis, Focal Segmental; Tobacco Use Disorder; Chronic renal failure|Kidney Failure, Chronic|Nephrotic Syndrome; Death, Sudden, Cardiac; Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Oesophageal neoplasm|Squamous cell carcinoma|Stomach Neoplasms; Alzheimer's disease ; Blood Pressure; Religion and Psychology	Homozygous mutation of this gene results in a congenital semilunar valvulogenesis defect which causes regurgitation and stenosis, and decreased incidence of induced skin tumors. Another mutant exhibits decreased cardiac contraction and increased hypertrophy in response to chronic stress.	Synthesis of IP3 and IP4 in the cytosol	GO:0000187;activation of MAPK activity;IDA|GO:0001558;regulation of cell growth;TAS|GO:0006629;lipid metabolic process;IEA|GO:0006644;phospholipid metabolic process;IC|GO:0006651;diacylglycerol biosynthetic process;TAS|GO:0006940;regulation of smooth muscle contraction;TAS|GO:0007010;cytoskeleton organization;NAS|GO:0007165;signal transduction;IEA|GO:0007173;epidermal growth factor receptor signaling pathway;NAS|GO:0007200;phospholipase C-activating G-protein coupled receptor signaling pathway;IDA|GO:0007204;positive regulation of cytosolic calcium ion concentration;TAS|GO:0007205;protein kinase C-activating G-protein coupled receptor signaling pathway;NAS|GO:0007264;small GTPase mediated signal transduction;IEA|GO:0007265;Ras protein signal transduction;TAS|GO:0007507;heart development;TAS|GO:0008277;regulation of G-protein coupled receptor protein signaling pathway;IDA|GO:0008283;cell proliferation;NAS|GO:0016042;lipid catabolic process;IEA|GO:0019722;calcium-mediated signaling;NAS|GO:0032835;glomerulus development;IMP|GO:0035556;intracellular signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0043647;inositol phosphate metabolic process;TAS|GO:0045859;regulation of protein kinase activity;IDA|GO:0046578;regulation of Ras protein signal transduction;IDA|GO:0048016;inositol phosphate-mediated signaling;TAS	GO:0000139;Golgi membrane;IEA|GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA	GO:0004435;phosphatidylinositol phospholipase C activity;TAS|GO:0004629;phospholipase C activity;IDA|GO:0004871;signal transducer activity;IEA|GO:0005057;signal transducer activity, downstream of receptor;TAS|GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005515;protein binding;IPI|GO:0008081;phosphoric diester hydrolase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0017016;Ras GTPase binding;TAS|GO:0019899;enzyme binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PLCE1	https://www.uniprot.org/uniprot/Q9P212	https://hpo.jax.org/app/browse/search?q=PLCE1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=608414	http://www.informatics.jax.org/searchtool/Search.do?query=PLCE1&submit=Quick%0D%7696ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLCE1
10_101.305_148.305	Chr10:78740262-120743937	1.191	PLEKHS1	ENSG00000148735	pleckstrin homology domain containing S1	chr10:115511213-115543188		Tobacco Use Disorder; Breath Tests; smoking cessation	 				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/PLEKHS1	https://www.uniprot.org/uniprot/Q5SXH7			http://www.informatics.jax.org/searchtool/Search.do?query=PLEKHS1&submit=Quick%0D%9155ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PLEKHS1
10_101.305_148.305	Chr10:78740262-120743937	1.191	PNLIP	ENSG00000175535	pancreatic lipase	chr10:118305443-118327367	This gene encodes a member of the lipase family of proteins. The encoded enzyme is secreted by the pancreas and hydrolyzes triglycerides in the small intestine, and is essential for the efficient digestion of dietary fats. Inhibition of the encoded enzyme may prevent high-fat diet-induced obesity in mice and result in weight loss in human patients with obesity. Mutations in this gene cause congenital pancreatic lipase deficiency, a rare disorder characterized by steatorrhea. [provided by RefSeq, Jul 2016]	Neuroblastoma; lipoproteins; Alzheimer's disease 	Homozygous null mice show impaired dietary cholesterol, triglyceride and retinyl ester absorption, resistance to diet-induced obesity, and insulin resistance.	Retinoid metabolism and transport	GO:0001523;retinoid metabolic process;TAS|GO:0006629;lipid metabolic process;IEA|GO:0016042;lipid catabolic process;IEA|GO:0030299;intestinal cholesterol absorption;IEA|GO:0044241;lipid digestion;TAS|GO:0061365;positive regulation of triglyceride lipase activity;IDA	GO:0005576;extracellular region;TAS	GO:0004806;triglyceride lipase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0052689;carboxylic ester hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PNLIP		https://hpo.jax.org/app/browse/search?q=PNLIP&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=246600	http://www.informatics.jax.org/searchtool/Search.do?query=PNLIP&submit=Quick%0D%13715ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PNLIP
10_101.305_148.305	Chr10:78740262-120743937	1.191	PNLIPRP1	ENSG00000187021	pancreatic lipase related protein 1	chr10:118349897-118368687		Alzheimer's disease 	Mice homozygous for a knock-out allele show increased lipase activity in pancreatic juice and develop obesity associated with increased body fat mass, impaired glucose tolerance and insulin resistance, with these conditions exacerbated on a high-fat diet.	Digestion of dietary lipid	GO:0006629;lipid metabolic process;IEA|GO:0016042;lipid catabolic process;IEA	GO:0005576;extracellular region;IEA	GO:0004806;triglyceride lipase activity;IEA|GO:0005509;calcium ion binding;ISS|GO:0046872;metal ion binding;IEA|GO:0052689;carboxylic ester hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PNLIPRP1			https://www.ncbi.nlm.nih.gov/omim/?term=604422	http://www.informatics.jax.org/searchtool/Search.do?query=PNLIPRP1&submit=Quick%0D%15760ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PNLIPRP1
10_101.305_148.305	Chr10:78740262-120743937	1.191	PNLIPRP2	ENSG00000266200	pancreatic lipase related protein 2 (gene/pseudogene)	chr10:118380465-118404654	This gene encodes a lipase that hydrolyzes galactolipids, the main components of plant membrane lipids. An allelic polymorphism in this gene results in both coding and non-coding variants; the reference genome represents the non-coding allele. [provided by RefSeq, Aug 2015]	Forced Vital Capacity; Forced Expiratory Volume; Phospholipids; Alzheimer's disease 	Mice homozygous for disruptions in this gene display deficient lipid absorbtion before weaning which results in growth retardation.		GO:0006629;lipid metabolic process;IEA|GO:0006968;cellular defense response;IEA|GO:0007586;digestion;IEA|GO:0016042;lipid catabolic process;IEA	GO:0005576;extracellular region;IEA	GO:0004806;triglyceride lipase activity;IEA|GO:0052689;carboxylic ester hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PNLIPRP2			https://www.ncbi.nlm.nih.gov/omim/?term=604423	http://www.informatics.jax.org/searchtool/Search.do?query=PNLIPRP2&submit=Quick%0D%20618ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PNLIPRP2
10_101.305_148.305	Chr10:78740262-120743937	1.191	PNLIPRP3	ENSG00000203837	pancreatic lipase related protein 3	chr10:118187379-118237469		Urinalysis		Digestion of dietary lipid	GO:0006629;lipid metabolic process;IEA|GO:0016042;lipid catabolic process;IEA	GO:0005576;extracellular region;IEA	GO:0004806;triglyceride lipase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0052689;carboxylic ester hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PNLIPRP3				http://www.informatics.jax.org/searchtool/Search.do?query=PNLIPRP3&submit=Quick%0D%17151ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PNLIPRP3
10_101.305_148.305	Chr10:78740262-120743937	1.191	POLL	ENSG00000166169	DNA polymerase lambda	chr10:103338639-103348027	This gene encodes a DNA polymerase. DNA polymerases catalyze DNA-template-directed extension of the 3'-end of a DNA strand. This particular polymerase, which is a member of the X family of DNA polymerases, likely plays a role in non-homologous end joining and other DNA repair processes. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2010]	Chronic renal failure|Kidney Failure, Chronic; Alzheimer's disease ; bladder cancer; Leukemia, Lymphocytic, Chronic, B-Cell	Mice homozygous for a knock-out allele exhibit defective heavy chain rearrangement. See also the Dpcd gene for mutations that affect both of these overlapping genes.	Nonhomologous End-Joining (NHEJ)	GO:0000724;double-strand break repair via homologous recombination;IMP|GO:0006260;DNA replication;IEA|GO:0006281;DNA repair;IEA|GO:0006287;base-excision repair, gap-filling;IDA|GO:0006289;nucleotide-excision repair;IDA|GO:0006303;double-strand break repair via nonhomologous end joining;TAS|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0016446;somatic hypermutation of immunoglobulin genes;NAS|GO:0071897;DNA biosynthetic process;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS	GO:0003677;DNA binding;IEA|GO:0003887;DNA-directed DNA polymerase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0016829;lyase activity;IEA|GO:0034061;DNA polymerase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0051575;5'-deoxyribose-5-phosphate lyase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/POLL			https://www.ncbi.nlm.nih.gov/omim/?term=606343	http://www.informatics.jax.org/searchtool/Search.do?query=POLL&submit=Quick%0D%11717ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=POLL
10_101.305_148.305	Chr10:78740262-120743937	1.191	POLR3A	ENSG00000148606	RNA polymerase III subunit A	chr10:79734907-79789303	The protein encoded by this gene is the catalytic component of RNA polymerase III, which synthesizes small RNAs. The encoded protein also acts as a sensor to detect foreign DNA and trigger an innate immune response. [provided by RefSeq, Aug 2011]	HIV Infections|[X]Human immunodeficiency virus disease; Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone	 	RNA Polymerase III Transcription Initiation From Type 3 Promoter	GO:0002376;immune system process;IEA|GO:0006351;transcription, DNA-templated;NAS|GO:0006383;transcription from RNA polymerase III promoter;IEA|GO:0032481;positive regulation of type I interferon production;TAS|GO:0032728;positive regulation of interferon-beta production;IMP|GO:0045087;innate immune response;IEA|GO:0051607;defense response to virus;IEA|GO:1903146;regulation of mitophagy;IMP|GO:1903955;positive regulation of protein targeting to mitochondrion;IMP	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005666;DNA-directed RNA polymerase III complex;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA	GO:0001056;RNA polymerase III activity;IBA|GO:0003677;DNA binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003899;DNA-directed 5'-3' RNA polymerase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016779;nucleotidyltransferase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/POLR3A	https://www.uniprot.org/uniprot/O14802	https://hpo.jax.org/app/browse/search?q=POLR3A&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614258	http://www.informatics.jax.org/searchtool/Search.do?query=POLR3A&submit=Quick%0D%9139ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=POLR3A
10_101.305_148.305	Chr10:78740262-120743937	1.191	PPIF	ENSG00000108179	peptidylprolyl isomerase F	chr10:81107225-81115093	The protein encoded by this gene is a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. This protein is part of the mitochondrial permeability transition pore in the inner mitochondrial membrane. Activation of this pore is thought to be involved in the induction of apoptotic and necrotic cell death. [provided by RefSeq, Jul 2008]	Body Height; Alzheimer's disease ; Tobacco Use Disorder; Acquired Immunodeficiency Syndrome|Disease Progression; Obesity|POF - Premature ovarian failure|POLYCYSTIC OVARIAN SYNDROME|Polycystic Ovary Syndrome|Primary Ovarian Insufficiency|Puberty, Delayed|Puberty, Precocious|Thrombophilia|Tobacco Use Disorder	Homozygous inactivation of this gene results in abnormal mitochondrial physiology and a significantly decreased infarction size following ischemia/reperfusion-induced cardiac or brain injury.		GO:0000413;protein peptidyl-prolyl isomerization;IEA|GO:0002931;response to ischemia;ISS|GO:0006457;protein folding;IEA|GO:0006915;apoptotic process;IEA|GO:0006979;response to oxidative stress;IEA|GO:0008637;apoptotic mitochondrial changes;IEA|GO:0010849;regulation of proton-transporting ATPase activity, rotational mechanism;ISS|GO:0010939;regulation of necrotic cell death;IEA|GO:0012501;programmed cell death;IEA|GO:0032780;negative regulation of ATPase activity;ISS|GO:0042981;regulation of apoptotic process;IEA|GO:0043066;negative regulation of apoptotic process;IDA|GO:0046902;regulation of mitochondrial membrane permeability;ISS|GO:0070266;necroptotic process;IEA|GO:0070301;cellular response to hydrogen peroxide;IMP|GO:0071243;cellular response to arsenic-containing substance;ISS|GO:0071277;cellular response to calcium ion;ISS|GO:0090200;positive regulation of release of cytochrome c from mitochondria;ISS|GO:0090201;negative regulation of release of cytochrome c from mitochondria;IDA|GO:0090324;negative regulation of oxidative phosphorylation;ISS|GO:1902445;regulation of mitochondrial membrane permeability involved in programmed necrotic cell death;IMP|GO:2000276;negative regulation of oxidative phosphorylation uncoupler activity;ISS|GO:2001243;negative regulation of intrinsic apoptotic signaling pathway;IMP	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IEA|GO:0005753;mitochondrial proton-transporting ATP synthase complex;ISS|GO:0005759;mitochondrial matrix;IEA|GO:0016020;membrane;TAS	GO:0003755;peptidyl-prolyl cis-trans isomerase activity;IEA|GO:0005515;protein binding;IPI|GO:0016018;cyclosporin A binding;IEA|GO:0016853;isomerase activity;IEA|GO:0042277;peptide binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PPIF	https://www.uniprot.org/uniprot/P30405		https://www.ncbi.nlm.nih.gov/omim/?term=604486	http://www.informatics.jax.org/searchtool/Search.do?query=PPIF&submit=Quick%0D%3684ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPIF
22_4.194_23.194	Chr22:17733575-25291782	0.374	PPIL2	ENSG00000100023	peptidylprolyl isomerase like 2	chr22:22006559-22054304	This gene is a member of the cyclophilin family of peptidylprolyl isomerases. The cyclophilins are a highly conserved ubiquitous family, members of which play an important role in protein folding, immunosuppression by cyclosporin A, and infection of HIV-1 virions. This protein interacts with the proteinase inhibitor eglin c and is localized in the nucleus. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]	Alzheimer's disease 	 	Basigin interactions	GO:0000209;protein polyubiquitination;IDA|GO:0000413;protein peptidyl-prolyl isomerization;IEA|GO:0006457;protein folding;IEA|GO:0016567;protein ubiquitination;IEA|GO:0050900;leukocyte migration;TAS|GO:0072659;protein localization to plasma membrane;IMP	GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005796;Golgi lumen;TAS|GO:0005886;plasma membrane;IDA	GO:0003755;peptidyl-prolyl cis-trans isomerase activity;IEA|GO:0004842;ubiquitin-protein transferase activity;IEA|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016853;isomerase activity;IEA|GO:0034450;ubiquitin-ubiquitin ligase activity;IDA|GO:0061630;ubiquitin protein ligase activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PPIL2	https://www.uniprot.org/uniprot/Q13356		https://www.ncbi.nlm.nih.gov/omim/?term=607588	http://www.informatics.jax.org/searchtool/Search.do?query=PPIL2&submit=Quick%0D%2377ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPIL2
22_4.194_23.194	Chr22:17733575-25291782	0.374	PPM1F	ENSG00000100034	protein phosphatase, Mg2+/Mn2+ dependent 1F	chr22:22273793-22307209	The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase can interact with Rho guanine nucleotide exchange factors (PIX), and thus block the effects of p21-activated kinase 1 (PAK), a protein kinase mediating biological effects downstream of Rho GTPases. Calcium/calmodulin-dependent protein kinase II gamma (CAMK2G/CAMK-II) is found to be one of the substrates of this phosphatase. The overexpression of this phosphatase or CAMK2G has been shown to mediate caspase-dependent apoptosis. An alternatively spliced transcript variant has been identified, but its full-length nature has not been determined. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; ADHD | attention-deficit hyperactivity disorder; Attention Deficit Disorder with Hyperactivity; Chronic renal failure|Kidney Failure, Chronic	Mice homozygous for a targeted mutation are not detected at weaning. Mice heterozygous for a targeted mutation display hyperactivity and an increase in pain threshold.		GO:0006469;negative regulation of protein kinase activity;IDA|GO:0006470;protein dephosphorylation;IEA|GO:0006915;apoptotic process;IEA|GO:0010628;positive regulation of gene expression;IMP|GO:0010634;positive regulation of epithelial cell migration;IMP|GO:0010811;positive regulation of cell-substrate adhesion;IMP|GO:0016576;histone dephosphorylation;IEA|GO:0033137;negative regulation of peptidyl-serine phosphorylation;IDA|GO:0035690;cellular response to drug;IDA|GO:0035970;peptidyl-threonine dephosphorylation;IDA|GO:0043280;positive regulation of cysteine-type endopeptidase activity involved in apoptotic process;IDA|GO:0044387;negative regulation of protein kinase activity by regulation of protein phosphorylation;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IMP|GO:0045927;positive regulation of growth;IMP|GO:0050921;positive regulation of chemotaxis;IMP|GO:0051496;positive regulation of stress fiber assembly;IDA|GO:0051894;positive regulation of focal adhesion assembly;IMP|GO:0097193;intrinsic apoptotic signaling pathway;IDA	GO:0005829;cytosol;IDA|GO:0043234;protein complex;IDA|GO:0048471;perinuclear region of cytoplasm;IEA	GO:0003824;catalytic activity;IEA|GO:0004721;phosphoprotein phosphatase activity;IEA|GO:0004722;protein serine/threonine phosphatase activity;IDA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IDA|GO:0033192;calmodulin-dependent protein phosphatase activity;IDA|GO:0043169;cation binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PPM1F	https://www.uniprot.org/uniprot/P49593			http://www.informatics.jax.org/searchtool/Search.do?query=PPM1F&submit=Quick%0D%2385ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPM1F
10_101.305_148.305	Chr10:78740262-120743937	1.191	PPP1R3C	ENSG00000119938	protein phosphatase 1 regulatory subunit 3C	chr10:93388199-93392811	This gene encodes a carbohydrate binding protein that is a subunit of the protein phosphatase 1 (PP1) complex. PP1 catalyzes reversible protein phosphorylation, which is important in a wide range of cellular activities. The encoded protein affects glycogen biosynthesis by activating glycogen synthase and limiting glycogen breakdown by reducing glycogen phosphorylase activity. DNA hypermethylation of this gene has been found in colorectal cancer patients. The encoded protein also interacts with the laforin protein, which is a protein tyrosine phosphatase implicated in Lafora disease. [provided by RefSeq, Sep 2016]	Heart Failure; Alzheimer's disease 	Homozygous null mice are embyronic lethal. Heterozygotes have reduced glycogen stores, attenuated glycogen synthesis, glucose intolerance, hyperinsulinemia and insulin resistance. Mice homozygous for a different knock-out allele exhibit normal lifespan with enhanced whole body insulin sensitivity.	Myoclonic epilepsy of Lafora	GO:0005975;carbohydrate metabolic process;IEA|GO:0005977;glycogen metabolic process;IEA|GO:0005978;glycogen biosynthetic process;TAS|GO:0006470;protein dephosphorylation;IEA|GO:0050790;regulation of catalytic activity;IEA	GO:0005829;cytosol;TAS	GO:0004722;protein serine/threonine phosphatase activity;TAS|GO:0005515;protein binding;IPI|GO:0019888;protein phosphatase regulator activity;IEA|GO:0019903;protein phosphatase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PPP1R3C	https://www.uniprot.org/uniprot/Q9UQK1		https://www.ncbi.nlm.nih.gov/omim/?term=602999	http://www.informatics.jax.org/searchtool/Search.do?query=PPP1R3C&submit=Quick%0D%5141ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPP1R3C
10_101.305_148.305	Chr10:78740262-120743937	1.191	PPRC1	ENSG00000148840	peroxisome proliferator-activated receptor gamma, coactivator-related 1	chr10:103892787-103910082	The protein encoded by this gene is similar to PPAR-gamma coactivator 1 (PPARGC1/PGC-1), a protein that can activate mitochondrial biogenesis in part through a direct interaction with nuclear respiratory factor 1 (NRF1). This protein has been shown to interact with NRF1. It is thought to be a functional relative of PPAR-gamma coactivator 1 that activates mitochondrial biogenesis through NRF1 in response to proliferative signals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]	Diabetes Mellitus, Type 2|; plasma HDL cholesterol (HDL-C) levels; Alzheimer's disease 	Mice homozygous for a knock-out allele exhibit letahlity post-implantation with delayed hatching and disorganized embryo tissues.	Transcriptional activation of mitochondrial biogenesis	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007005;mitochondrion organization;TAS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IBA|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IBA|GO:1903506;regulation of nucleic acid-templated transcription;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS	GO:0001104;RNA polymerase II transcription cofactor activity;IBA|GO:0003676;nucleic acid binding;IEA|GO:0003712;transcription cofactor activity;IEA|GO:0003723;RNA binding;IDA|GO:0008134;transcription factor binding;IBA|GO:0030374;ligand-dependent nuclear receptor transcription coactivator activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/PPRC1	https://www.uniprot.org/uniprot/Q5VV67		https://www.ncbi.nlm.nih.gov/omim/?term=617462	http://www.informatics.jax.org/searchtool/Search.do?query=PPRC1&submit=Quick%0D%9167ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PPRC1
22_4.194_23.194	Chr22:17733575-25291782	0.374	PRAME	ENSG00000275013	preferentially expressed antigen in melanoma	chr22:22890123-22901768	This gene encodes an antigen that is preferentially expressed in human melanomas and that is recognized by cytolytic T lymphocytes. It is not expressed in normal tissues, except testis. The encoded protein acts as a repressor of retinoic acid receptor, and likely confers a growth advantage to cancer cells via this function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]		 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006915;apoptotic process;IEA|GO:0008284;positive regulation of cell proliferation;IDA|GO:0030154;cell differentiation;IEA|GO:0040008;regulation of growth;IEA|GO:0043066;negative regulation of apoptotic process;IDA|GO:0045596;negative regulation of cell differentiation;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IDA|GO:0048387;negative regulation of retinoic acid receptor signaling pathway;IDA	GO:0005634;nucleus;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA	GO:0005515;protein binding;IPI|GO:0042974;retinoic acid receptor binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PRAME			https://www.ncbi.nlm.nih.gov/omim/?term=606021	http://www.informatics.jax.org/searchtool/Search.do?query=PRAME&submit=Quick%0D%21252ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRAME
2_252.744_266.744	Chr2:235528138-241561721	0.223	PRLH	ENSG00000071677	prolactin releasing hormone	chr2:238475217-238475818			Homozygous mutation of this gene results in polyphagia; late-onset obesity and adiposity; increase in circulating insulin, leptin, and triglyceride levels; impaired glucose tolerance and insulin resistance; and attenuated responses to the anorexigenic signals cholecystokinin and leptin.	Peptide ligand-binding receptors	GO:0001894;tissue homeostasis;IEA|GO:0002021;response to dietary excess;IEA|GO:0002023;reduction of food intake in response to dietary excess;IEA|GO:0006112;energy reserve metabolic process;IEA|GO:0006629;lipid metabolic process;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0007631;feeding behavior;IEA|GO:0009749;response to glucose;IEA|GO:0032868;response to insulin;IEA|GO:0040014;regulation of multicellular organism growth;IEA|GO:0042755;eating behavior;IEA|GO:0043434;response to peptide hormone;IEA|GO:0045444;fat cell differentiation;IEA|GO:0048483;autonomic nervous system development;IEA	GO:0005576;extracellular region;TAS|GO:0005737;cytoplasm;IEA	GO:0005179;hormone activity;TAS|GO:0005184;neuropeptide hormone activity;IEA|GO:0031861;prolactin-releasing peptide receptor binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PRLH	https://www.uniprot.org/uniprot/P81277		https://www.ncbi.nlm.nih.gov/omim/?term=602663	http://www.informatics.jax.org/searchtool/Search.do?query=PRLH&submit=Quick%0D%1405ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRLH
10_101.305_148.305	Chr10:78740262-120743937	1.191	PRLHR	ENSG00000119973	prolactin releasing hormone receptor	chr10:120352916-120355160	PRLHR is a 7-transmembrane domain receptor for prolactin-releasing hormone (PRLH; MIM 602663) that is highly expressed in anterior pituitary (Ozawa et al., 2002 [PubMed 11923475]).[supplied by OMIM, Mar 2008]	obesity; blood pressure, arterial; Type 2 Diabetes| edema | rosiglitazone; blood pressure; blood pressure, arterial	Mice homozygous for disruptions in this gene ate more than normal and became obese as they aged.	Peptide ligand-binding receptors	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007218;neuropeptide signaling pathway;IEA|GO:0007268;chemical synaptic transmission;IBA|GO:0007565;female pregnancy;TAS|GO:0007631;feeding behavior;IEA|GO:0042445;hormone metabolic process;IEA	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;TAS|GO:0004983;neuropeptide Y receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0008188;neuropeptide receptor activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/PRLHR	https://www.uniprot.org/uniprot/P49683		https://www.ncbi.nlm.nih.gov/omim/?term=600895	http://www.informatics.jax.org/searchtool/Search.do?query=PRLHR&submit=Quick%0D%5148ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRLHR
22_4.194_23.194	Chr22:17733575-25291782	0.374	PRODH	ENSG00000100033	proline dehydrogenase 1	chr22:18900294-18924066	This gene encodes a mitochondrial protein that catalyzes the first step in proline degradation. Mutations in this gene are associated with hyperprolinemia type 1 and susceptibility to schizophrenia 4 (SCZD4). This gene is located on chromosome 22q11.21, a region which has also been associated with the contiguous gene deletion syndromes, DiGeorge and CATCH22. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2010]	schizophrenia; bipolar disorder; Marijuana Abuse|Psychoses, Substance-Induced; schizotypal traits; bipolar disorder; schizophrenia | autism; CATCH 22 syndrome; Amino acid disorder, NOS|Amino Acid Metabolism, Inborn Errors; schizophrenia; null; Acquired Immunodeficiency Syndrome|Disease Progression; Psychiatric Disorders	Homozygotes for a spontaneous null mutation exhibit a slight reduction in male body weight, hyperprolinemia, increased startle reflex, and regionally altered brain levels of proline, glutamate, gamma-aminobutyric acid, and aspartate.	Proline catabolism	GO:0006560;proline metabolic process;TAS|GO:0006562;proline catabolic process;IEA|GO:0008631;intrinsic apoptotic signaling pathway in response to oxidative stress;NAS|GO:0010133;proline catabolic process to glutamate;IEA|GO:0010942;positive regulation of cell death;IDA|GO:0019470;4-hydroxyproline catabolic process;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0005759;mitochondrial matrix;IEA	GO:0004657;proline dehydrogenase activity;IEA|GO:0016491;oxidoreductase activity;IEA|GO:0071949;FAD binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/PRODH	https://www.uniprot.org/uniprot/O43272	https://hpo.jax.org/app/browse/search?q=PRODH&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606810	http://www.informatics.jax.org/searchtool/Search.do?query=PRODH&submit=Quick%0D%2384ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRODH
2_252.744_266.744	Chr2:235528138-241561721	0.223	PRR21	ENSG00000221961	proline rich 21	chr2:240981230-240982399								http://www.genecards.org/index.php?path=/Search/keyword/PRR21				http://www.informatics.jax.org/searchtool/Search.do?query=PRR21&submit=Quick%0D%18442ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PRR21
10_101.305_148.305	Chr10:78740262-120743937	1.191	PSD	ENSG00000059915	pleckstrin and Sec7 domain containing	chr10:104162376-104181296	This gene encodes a Plekstrin homology and SEC7 domains-containing protein that functions as a guanine nucleotide exchange factor. The encoded protein regulates signal transduction by activating ADP-ribosylation factor 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]	benzene haematotoxicity; Alzheimer's disease 	 		GO:0007165;signal transduction;NAS|GO:0031175;neuron projection development;IEA|GO:0032012;regulation of ARF protein signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA	GO:0001726;ruffle;IEA|GO:0005886;plasma membrane;IEA|GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0032154;cleavage furrow;IDA|GO:0032587;ruffle membrane;IDA|GO:0042995;cell projection;IEA|GO:0043197;dendritic spine;IEA|GO:0098999;extrinsic component of postsynaptic endosome membrane;IEA	GO:0004871;signal transducer activity;NAS|GO:0005085;guanyl-nucleotide exchange factor activity;IEA|GO:0005086;ARF guanyl-nucleotide exchange factor activity;IDA|GO:0005515;protein binding;IPI|GO:0005543;phospholipid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PSD	https://www.uniprot.org/uniprot/A5PKW4		https://www.ncbi.nlm.nih.gov/omim/?term=602327	http://www.informatics.jax.org/searchtool/Search.do?query=PSD&submit=Quick%0D%1054ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PSD
10_101.305_148.305	Chr10:78740262-120743937	1.191	PTEN	ENSG00000171862	phosphatase and tensin homolog	chr10:89622870-89731687	This gene was identified as a tumor suppressor that is mutated in a large number of cancers at high frequency. The protein encoded by this gene is a phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase. It contains a tensin like domain as well as a catalytic domain similar to that of the dual specificity protein tyrosine phosphatases. Unlike most of the protein tyrosine phosphatases, this protein preferentially dephosphorylates phosphoinositide substrates. It negatively regulates intracellular levels of phosphatidylinositol-3,4,5-trisphosphate in cells and functions as a tumor suppressor by negatively regulating AKT/PKB signaling pathway. The use of a non-canonical (CUG) upstream initiation site produces a longer isoform that initiates translation with a leucine, and is thought to be preferentially associated with the mitochondrial inner membrane. This longer isoform may help regulate energy metabolism in the mitochondria. A pseudogene of this gene is found on chromosome 9. Alternative splicing and the use of multiple translation start codons results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2015]	Pancreatic Neoplasms; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; colorectal cancer; plasma HDL cholesterol (HDL-C) levels; Cholesterol, LDL; epithelial ovarian cancer ; Brain Neoplasms|Glioblastoma; esophageal cancer ; Cleft Lip|Cleft Palate; Neoplasms; endometrial cancer; ovarian cancer; Abnormalities, Multiple|Craniofacial Abnormalities; Brain Neoplasms|Glioma|meningioma|Neuroma, Acoustic|Neuromas, Acoustic; colorectal cancer endometrial cancer; endometriosis; Alzheimer's disease ; Neoplasm Recurrence, Local|Prostatic Neoplasms; esophageal adenocarcinoma; autism; Glioma; Cowden syndrome; lung cancer ; Type 2 Diabetes| edema | rosiglitazone; Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Stomach Neoplasms; breast cancer; chronic obstructive pulmonary disease; Autism; Ovarian Failure, Premature; bladder cancer; anaplastic astrocytoma; glioblastoma multiforme; breast cancer prostate cancer; patent ductus arteriosus; Cholesterol; Endometrial Neoplasms; breast cancer ; Colonic Neoplasms|Rectal Neoplasms; Adenocarcinoma, Papillary|thyroid neoplasm|Thyroid Neoplasms; meningioma; brain cancer; Endometriosis|Neoplasms, Glandular and Epithelial|ovarian neoplasm|Ovarian Neoplasms; diabetes, type 2; Carcinoma, Endometrioid|Endometrial Neoplasms|Microsatellite Instability; lung cancer; prostate cancer; Brain Neoplasms|Glioma; Carcinoma, Squamous Cell|Skin Neoplasms; Narcolepsy; Retinal Neoplasms|Retinoblastoma; Carcinoma, Endometrioid|Endometrial Neoplasms; smoking behavior; nicotine dependence; Colonic Neoplasms|; Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Alzheimer's disease	Homozygous null mutants die by E9.5 with abnormally patterned enlarged brains and defective placentas. Heterozygotes develop a range of neoplasms. Conditional mutants demonstrate effects on basic processes of proliferation, differentiation and apoptosis.	Regulation of PTEN stability and activity	GO:0000079;regulation of cyclin-dependent protein serine/threonine kinase activity;TAS|GO:0001525;angiogenesis;IEA|GO:0001933;negative regulation of protein phosphorylation;IDA|GO:0002902;regulation of B cell apoptotic process;IEA|GO:0006470;protein dephosphorylation;IDA|GO:0006629;lipid metabolic process;IEA|GO:0006661;phosphatidylinositol biosynthetic process;TAS|GO:0006915;apoptotic process;IEA|GO:0007270;neuron-neuron synaptic transmission;ISS|GO:0007399;nervous system development;IEA|GO:0007416;synapse assembly;ISS|GO:0007417;central nervous system development;ISS|GO:0007507;heart development;ISS|GO:0007568;aging;IEA|GO:0007584;response to nutrient;IEA|GO:0007611;learning or memory;ISS|GO:0007613;memory;IEA|GO:0007626;locomotory behavior;ISS|GO:0008283;cell proliferation;TAS|GO:0008284;positive regulation of cell proliferation;ISS|GO:0008285;negative regulation of cell proliferation;IDA|GO:0009749;response to glucose;IEA|GO:0010033;response to organic substance;IEA|GO:0010035;response to inorganic substance;IEA|GO:0010043;response to zinc ion;IEA|GO:0010628;positive regulation of gene expression;IEA|GO:0010666;positive regulation of cardiac muscle cell apoptotic process;IEA|GO:0010719;negative regulation of epithelial to mesenchymal transition;IMP|GO:0010975;regulation of neuron projection development;ISS|GO:0014067;negative regulation of phosphatidylinositol 3-kinase signaling;NAS|GO:0014070;response to organic cyclic compound;IEA|GO:0014823;response to activity;IEA|GO:0016311;dephosphorylation;IEA|GO:0016477;cell migration;ISS|GO:0016579;protein deubiquitination;TAS|GO:0021542;dentate gyrus development;ISS|GO:0021955;central nervous system neuron axonogenesis;ISS|GO:0030336;negative regulation of cell migration;IMP|GO:0030534;adult behavior;IEA|GO:0031175;neuron projection development;IEA|GO:0031642;negative regulation of myelination;IEA|GO:0031647;regulation of protein stability;IMP|GO:0031658;negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle;IDA|GO:0032228;regulation of synaptic transmission, GABAergic;IEA|GO:0032286;central nervous system myelin maintenance;ISS|GO:0032355;response to estradiol;IEA|GO:0032535;regulation of cellular component size;ISS|GO:0032869;cellular response to insulin stimulus;IEA|GO:0033032;regulation of myeloid cell apoptotic process;IEA|GO:0033198;response to ATP;IEA|GO:0033555;multicellular organismal response to stress;ISS|GO:0035176;social behavior;ISS|GO:0035335;peptidyl-tyrosine dephosphorylation;IEA|GO:0036294;cellular response to decreased oxygen levels;IEA|GO:0042493;response to drug;IEA|GO:0042711;maternal behavior;IEA|GO:0043065;positive regulation of apoptotic process;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0043491;protein kinase B signaling;ISS|GO:0043542;endothelial cell migration;IEA|GO:0043647;inositol phosphate metabolic process;TAS|GO:0044320;cellular response to leptin stimulus;IEA|GO:0045471;response to ethanol;IEA|GO:0045475;locomotor rhythm;ISS|GO:0045666;positive regulation of neuron differentiation;IEA|GO:0045792;negative regulation of cell size;ISS|GO:0046621;negative regulation of organ growth;ISS|GO:0046685;response to arsenic-containing substance;IEA|GO:0046855;inositol phosphate dephosphorylation;IDA|GO:0046856;phosphatidylinositol dephosphorylation;IDA|GO:0048008;platelet-derived growth factor receptor signaling pathway;IEA|GO:0048015;phosphatidylinositol-mediated signaling;TAS|GO:0048679;regulation of axon regeneration;IEA|GO:0048681;negative regulation of axon regeneration;IEA|GO:0048738;cardiac muscle tissue development;IEA|GO:0048853;forebrain morphogenesis;ISS|GO:0048854;brain morphogenesis;ISS|GO:0050680;negative regulation of epithelial cell proliferation;IEA|GO:0050765;negative regulation of phagocytosis;IEA|GO:0050771;negative regulation of axonogenesis;ISS|GO:0050821;protein stabilization;IDA|GO:0050852;T cell receptor signaling pathway;TAS|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IMP|GO:0051548;negative regulation of keratinocyte migration;IMP|GO:0051726;regulation of cell cycle;IEA|GO:0051895;negative regulation of focal adhesion assembly;IMP|GO:0051898;negative regulation of protein kinase B signaling;IMP|GO:0060024;rhythmic synaptic transmission;ISS|GO:0060044;negative regulation of cardiac muscle cell proliferation;IEA|GO:0060070;canonical Wnt signaling pathway;IDA|GO:0060074;synapse maturation;ISS|GO:0060134;prepulse inhibition;ISS|GO:0060179;male mating behavior;IEA|GO:0060291;long-term synaptic potentiation;IEA|GO:0060292;long term synaptic depression;IEA|GO:0060341;regulation of cellular localization;IEA|GO:0060736;prostate gland growth;IEA|GO:0060997;dendritic spine morphogenesis;ISS|GO:0061002;negative regulation of dendritic spine morphogenesis;ISS|GO:0070373;negative regulation of ERK1 and ERK2 cascade;IMP|GO:0070374;positive regulation of ERK1 and ERK2 cascade;IEA|GO:0071257;cellular response to electrical stimulus;IMP|GO:0071361;cellular response to ethanol;IEA|GO:0071456;cellular response to hypoxia;IEA|GO:0090071;negative regulation of ribosome biogenesis;IEA|GO:0090344;negative regulation of cell aging;IEA|GO:0090394;negative regulation of excitatory postsynaptic potential;ISS|GO:0097105;presynaptic membrane assembly;ISS|GO:0097107;postsynaptic density assembly;ISS|GO:1901017;negative regulation of potassium ion transmembrane transporter activity;IEA|GO:1903690;negative regulation of wound healing, spreading of epidermal cells;IMP|GO:1903984;positive regulation of TRAIL-activated apoptotic signaling pathway;IMP|GO:1904668;positive regulation of ubiquitin protein ligase activity;IDA|GO:1990090;cellular response to nerve growth factor stimulus;IEA|GO:1990314;cellular response to insulin-like growth factor stimulus;IEA|GO:2000060;positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IDA|GO:2000134;negative regulation of G1/S transition of mitotic cell cycle;IDA|GO:2000272;negative regulation of receptor activity;IEA|GO:2000463;positive regulation of excitatory postsynaptic potential;ISS|GO:2000808;negative regulation of synaptic vesicle clustering;ISS|GO:2001235;positive regulation of apoptotic signaling pathway;IEA	GO:0005576;extracellular region;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005739;mitochondrion;IEA|GO:0005829;cytosol;TAS|GO:0005886;plasma membrane;IDA|GO:0009898;cytoplasmic side of plasma membrane;IDA|GO:0016324;apical plasma membrane;IMP|GO:0016605;PML body;IEA|GO:0035749;myelin sheath adaxonal region;ISS|GO:0042995;cell projection;IDA|GO:0043005;neuron projection;ISS|GO:0043197;dendritic spine;IEA|GO:0043220;Schmidt-Lanterman incisure;ISS|GO:0045211;postsynaptic membrane;IEA	GO:0000287;magnesium ion binding;IEA|GO:0004438;phosphatidylinositol-3-phosphatase activity;IDA|GO:0004721;phosphoprotein phosphatase activity;IDA|GO:0004722;protein serine/threonine phosphatase activity;IDA|GO:0004725;protein tyrosine phosphatase activity;IDA|GO:0005161;platelet-derived growth factor receptor binding;IEA|GO:0005515;protein binding;IPI|GO:0008138;protein tyrosine/serine/threonine phosphatase activity;IEA|GO:0008289;lipid binding;IEA|GO:0010997;anaphase-promoting complex binding;IPI|GO:0016314;phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity;TAS|GO:0016787;hydrolase activity;IEA|GO:0016791;phosphatase activity;IEA|GO:0019899;enzyme binding;IPI|GO:0019901;protein kinase binding;IEA|GO:0030165;PDZ domain binding;IPI|GO:0035255;ionotropic glutamate receptor binding;IEA|GO:0042802;identical protein binding;IPI|GO:0051717;inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity;TAS|GO:0051800;phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity;TAS|GO:1990381;ubiquitin-specific protease binding;IPI|GO:1990782;protein tyrosine kinase binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PTEN		https://hpo.jax.org/app/browse/search?q=PTEN&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601728	http://www.informatics.jax.org/searchtool/Search.do?query=PTEN&submit=Quick%0D%13032ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PTEN
10_101.305_148.305	Chr10:78740262-120743937	1.191	PYROXD2	ENSG00000119943	pyridine nucleotide-disulphide oxidoreductase domain 2	chr10:100143322-100174941		Thyrotropin; Alzheimer's disease ; Metabolome	 		GO:0055114;oxidation-reduction process;IEA		GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/PYROXD2	https://www.uniprot.org/uniprot/Q8N2H3			http://www.informatics.jax.org/searchtool/Search.do?query=PYROXD2&submit=Quick%0D%5142ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=PYROXD2
10_101.305_148.305	Chr10:78740262-120743937	1.191	R3HCC1L	ENSG00000166024	R3H domain and coiled-coil containing 1 like	chr10:99894387-100004654		Alzheimer's disease ; Tobacco Use Disorder	 			GO:0035145;exon-exon junction complex;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/R3HCC1L				http://www.informatics.jax.org/searchtool/Search.do?query=R3HCC1L&submit=Quick%0D%11680ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=R3HCC1L
10_101.305_148.305	Chr10:78740262-120743937	1.191	RAB11FIP2	ENSG00000107560	RAB11 family interacting protein 2	chr10:119764427-119806114		Tobacco Use Disorder	 	Vasopressin regulates renal water homeostasis via Aquaporins	GO:0003091;renal water homeostasis;TAS|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0030010;establishment of cell polarity;IMP|GO:0035773;insulin secretion involved in cellular response to glucose stimulus;ISS|GO:0045055;regulated exocytosis;IBA|GO:1903078;positive regulation of protein localization to plasma membrane;IEA	GO:0005654;nucleoplasm;IDA|GO:0005768;endosome;IDA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;TAS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0055038;recycling endosome membrane;IEA	GO:0005515;protein binding;IPI|GO:0017137;Rab GTPase binding;IBA|GO:0019901;protein kinase binding;IPI|GO:0042803;protein homodimerization activity;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RAB11FIP2	https://www.uniprot.org/uniprot/Q7L804		https://www.ncbi.nlm.nih.gov/omim/?term=608599	http://www.informatics.jax.org/searchtool/Search.do?query=RAB11FIP2&submit=Quick%0D%3615ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RAB11FIP2
2_252.744_266.744	Chr2:235528138-241561721	0.223	RAB17	ENSG00000124839	RAB17, member RAS oncogene family	chr2:238482965-238510257	The Rab subfamily of small GTPases plays an important role in the regulation of membrane trafficking. RAB17 is an epithelial cell-specific GTPase (Lutcke et al., 1993 [PubMed 8486736]).[supplied by OMIM, Oct 2009]	Tobacco Use Disorder	 	RAB geranylgeranylation	GO:0002415;immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor;ISS|GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0030100;regulation of endocytosis;IBA|GO:0032401;establishment of melanosome localization;ISS|GO:0032402;melanosome transport;ISS|GO:0032456;endocytic recycling;IBA|GO:0045056;transcytosis;ISS|GO:0046847;filopodium assembly;ISS|GO:0050773;regulation of dendrite development;ISS|GO:0051489;regulation of filopodium assembly;ISS|GO:0051963;regulation of synapse assembly;ISS|GO:0060271;cilium assembly;IMP	GO:0005622;intracellular;IDA|GO:0005768;endosome;IEA|GO:0005769;early endosome;IBA|GO:0005886;plasma membrane;IBA|GO:0016020;membrane;IEA|GO:0016323;basolateral plasma membrane;ISS|GO:0016324;apical plasma membrane;ISS|GO:0030139;endocytic vesicle;IDA|GO:0030425;dendrite;IEA|GO:0042470;melanosome;IEA|GO:0042995;cell projection;IEA|GO:0043025;neuronal cell body;ISS|GO:0055037;recycling endosome;ISS|GO:0055038;recycling endosome membrane;IBA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0005515;protein binding;IPI|GO:0005525;GTP binding;IEA|GO:0019003;GDP binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RAB17	https://www.uniprot.org/uniprot/Q9H0T7		https://www.ncbi.nlm.nih.gov/omim/?term=602206	http://www.informatics.jax.org/searchtool/Search.do?query=RAB17&submit=Quick%0D%5727ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RAB17
22_4.194_23.194	Chr22:17733575-25291782	0.374	RAB36	ENSG00000100228	RAB36, member RAS oncogene family	chr22:23487513-23506537		Blood Vessels	 	RAB geranylgeranylation	GO:0006810;transport;IEA|GO:0015031;protein transport;IEA	GO:0000139;Golgi membrane;TAS|GO:0005794;Golgi apparatus;TAS|GO:0016020;membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0005525;GTP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RAB36	https://www.uniprot.org/uniprot/O95755		https://www.ncbi.nlm.nih.gov/omim/?term=605662	http://www.informatics.jax.org/searchtool/Search.do?query=RAB36&submit=Quick%0D%2442ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RAB36
2_252.744_266.744	Chr2:235528138-241561721	0.223	RAMP1	ENSG00000132329	receptor activity modifying protein 1	chr2:238767536-238820756	The protein encoded by this gene is a member of the RAMP family of single-transmembrane-domain proteins, called receptor (calcitonin) activity modifying proteins (RAMPs). RAMPs are type I transmembrane proteins with an extracellular N terminus and a cytoplasmic C terminus. RAMPs are required to transport calcitonin-receptor-like receptor (CRLR) to the plasma membrane. CRLR, a receptor with seven transmembrane domains, can function as either a calcitonin-gene-related peptide (CGRP) receptor or an adrenomedullin receptor, depending on which members of the RAMP family are expressed. In the presence of this (RAMP1) protein, CRLR functions as a CGRP receptor. The RAMP1 protein is involved in the terminal glycosylation, maturation, and presentation of the CGRP receptor to the cell surface. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]	Waist-Hip Ratio; null	Mice homozygous for a knock-out allele exhibit high systolic blood pressure due to a disruption in vasodilatory regulation as well as significantly increased serum levels of proinflammatory cytokines following LPS administration.	Calcitonin-like ligand receptors	GO:0001525;angiogenesis;IDA|GO:0006810;transport;IEA|GO:0006816;calcium ion transport;IDA|GO:0006886;intracellular protein transport;IEA|GO:0007186;G-protein coupled receptor signaling pathway;IEA|GO:0008277;regulation of G-protein coupled receptor protein signaling pathway;IEA|GO:0015031;protein transport;IDA|GO:0030819;positive regulation of cAMP biosynthetic process;IDA|GO:0031623;receptor internalization;IDA|GO:0060050;positive regulation of protein glycosylation;IDA|GO:0072659;protein localization to plasma membrane;IDA	GO:0005615;extracellular space;IEA|GO:0005622;intracellular;IEA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0043235;receptor complex;IDA	GO:0004872;receptor activity;IDA|GO:0004948;calcitonin receptor activity;IDA|GO:0005515;protein binding;IPI|GO:0008565;protein transporter activity;IEA|GO:0015026;coreceptor activity;IEA|GO:0031716;calcitonin receptor binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RAMP1	https://www.uniprot.org/uniprot/O60894		https://www.ncbi.nlm.nih.gov/omim/?term=605153	http://www.informatics.jax.org/searchtool/Search.do?query=RAMP1&submit=Quick%0D%6652ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RAMP1
22_4.194_23.194	Chr22:17733575-25291782	0.374	RANBP1	ENSG00000099901	RAN binding protein 1	chr22:20103461-20114878	This gene encodes a protein that forms a complex with Ras-related nuclear protein (Ran) and metabolizes guanoside triphosphate (GTP). This complex participates in the regulation of the cell cycle by controlling transport of proteins and nucleic acids into the nucleus. There are multiple pseudogenes for this gene on chromosomes 9, 12, 17, and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]	HIV Infections|[X]Human immunodeficiency virus disease; breast cancer	Mice homozygous for a knock-out allele exhibit postnatal growth retardation, decreased body weight, impaired spermatogenesis, and male infertility.	Rev-mediated nuclear export of HIV RNA	GO:0000082;G1/S transition of mitotic cell cycle;IBA|GO:0006405;RNA export from nucleus;IBA|GO:0006511;ubiquitin-dependent protein catabolic process;IBA|GO:0006606;protein import into nucleus;IBA|GO:0007051;spindle organization;IBA|GO:0007165;signal transduction;TAS|GO:0010976;positive regulation of neuron projection development;IEA|GO:0016032;viral process;TAS|GO:0035690;cellular response to drug;IEA|GO:0043547;positive regulation of GTPase activity;IEA|GO:0046604;positive regulation of mitotic centrosome separation;IBA|GO:0046907;intracellular transport;IEA|GO:0050790;regulation of catalytic activity;IEA|GO:0051592;response to calcium ion;IEA|GO:0072750;cellular response to leptomycin B;IEA	GO:0005622;intracellular;IEA|GO:0005634;nucleus;TAS|GO:0005635;nuclear envelope;TAS|GO:0005737;cytoplasm;IDA|GO:0005813;centrosome;IBA|GO:0005829;cytosol;IDA|GO:0032838;cell projection cytoplasm;IEA|GO:1904115;axon cytoplasm;IEA	GO:0005092;GDP-dissociation inhibitor activity;IMP|GO:0005096;GTPase activator activity;IEA|GO:0005515;protein binding;IPI|GO:0008536;Ran GTPase binding;TAS|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RANBP1	https://www.uniprot.org/uniprot/P43487		https://www.ncbi.nlm.nih.gov/omim/?term=601180	http://www.informatics.jax.org/searchtool/Search.do?query=RANBP1&submit=Quick%0D%2349ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RANBP1
10_101.305_148.305	Chr10:78740262-120743937	1.191	RBM20	ENSG00000203867	RNA binding motif protein 20	chr10:112404155-112599227	This gene encodes a protein that binds RNA and regulates splicing. Mutations in this gene have been associated with familial dilated cardiomyopathy. [provided by RefSeq, Apr 2014]	Tobacco Use Disorder; Blood Pressure	Mice homozygous for an allele lacking the RNA recognition motif exhibit increased titin compliance, and attenuated Frank-Starling mechanism.		GO:0006397;mRNA processing;IEA|GO:0007507;heart development;IMP|GO:0008380;RNA splicing;IEA|GO:0033120;positive regulation of RNA splicing;IMP	GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0008270;zinc ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RBM20		https://hpo.jax.org/app/browse/search?q=RBM20&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613171	http://www.informatics.jax.org/searchtool/Search.do?query=RBM20&submit=Quick%0D%17155ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RBM20
2_252.744_266.744	Chr2:235528138-241561721	0.223	RBM44	ENSG00000177483	RNA binding motif protein 44	chr2:238707032-238751451			Male mice homozygous or heterozygous for a knock-out allele exhibit enhanced fertility with increased litter size.			GO:0005737;cytoplasm;IEA|GO:0045171;intercellular bridge;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IEA|GO:0042803;protein homodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RBM44				http://www.informatics.jax.org/searchtool/Search.do?query=RBM44&submit=Quick%0D%14034ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RBM44
10_101.305_148.305	Chr10:78740262-120743937	1.191	RBP4	ENSG00000138207	retinol binding protein 4	chr10:95351444-95361501	 This protein belongs to the lipocalin family and is the specific carrier for retinol (vitamin A alcohol) in the blood. It delivers retinol from the liver stores to the peripheral tissues. In plasma, the RBP-retinol complex interacts with transthyretin which prevents its loss by filtration through the kidney glomeruli. A deficiency of vitamin A blocks secretion of the binding protein posttranslationally and results in defective delivery and supply to the epidermal cells. [provided by RefSeq, Jul 2008]	Diabetes mellitus type II|Diabetes Mellitus, Type 2|Insulin Resistance; Alzheimer's disease ; null; diabetes, type 2; diabetes, type 2 insulin; Type 2 diabetes; Hypertriglyceridemia|Metabolic Syndrome X	Homozygotes for a null allele show abnormal retinal function and retinol level, delayed heart trabeculation, and increased myocyte proliferation and fibronectin deposition in cardiac jelly and nascent valves. Homozygotes for another null allele show testicular defects on a vitamin A-deficient diet.	Retinoid metabolism and transport	GO:0001523;retinoid metabolic process;TAS|GO:0001654;eye development;IMP|GO:0006094;gluconeogenesis;IMP|GO:0006810;transport;IEA|GO:0007507;heart development;ISS|GO:0007601;visual perception;IEA|GO:0030277;maintenance of gastrointestinal epithelium;IDA|GO:0030324;lung development;ISS|GO:0032024;positive regulation of insulin secretion;IMP|GO:0032526;response to retinoic acid;IDA|GO:0034633;retinol transport;IC|GO:0042572;retinol metabolic process;IMP|GO:0042593;glucose homeostasis;IDA|GO:0045471;response to ethanol;IEA|GO:0048562;embryonic organ morphogenesis;ISS|GO:0048706;embryonic skeletal system development;ISS|GO:0048738;cardiac muscle tissue development;ISS|GO:0048807;female genitalia morphogenesis;ISS|GO:0050896;response to stimulus;IEA|GO:0051024;positive regulation of immunoglobulin secretion;ISS|GO:0060044;negative regulation of cardiac muscle cell proliferation;ISS|GO:0060059;embryonic retina morphogenesis in camera-type eye;ISS|GO:0060065;uterus development;ISS|GO:0060068;vagina development;ISS|GO:0060157;urinary bladder development;ISS|GO:0060347;heart trabecula formation;ISS	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IDA|GO:0005829;cytosol;TAS|GO:0043234;protein complex;IEA|GO:0070062;extracellular exosome;IDA	GO:0005215;transporter activity;IEA|GO:0005501;retinoid binding;IEA|GO:0005515;protein binding;IPI|GO:0016918;retinal binding;IEA|GO:0019841;retinol binding;IDA|GO:0034632;retinol transporter activity;IC|GO:0036094;small molecule binding;IEA|GO:0046982;protein heterodimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RBP4	https://www.uniprot.org/uniprot/P02753	https://hpo.jax.org/app/browse/search?q=RBP4&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=180250	http://www.informatics.jax.org/searchtool/Search.do?query=RBP4&submit=Quick%0D%7697ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RBP4
22_4.194_23.194	Chr22:17733575-25291782	0.374	RGL4	ENSG00000159496	ral guanine nucleotide dissociation stimulator like 4	chr22:24030323-24041363	This oncogene encodes a protein similar to guanine nucleotide exchange factor Ral guanine dissociation stimulator. Increased expression of this gene leads to translocation of the encoded protein to the cell membrane. The encoded protein can activate several pathways, including the Ras-Raf-MEK-ERK cascade. [provided by RefSeq, Jul 2016]		Homozygous mutant mice exhibit reduced tumor incidence, size and progression to malignancy in multistage skin carcinogenesis.		GO:0007264;small GTPase mediated signal transduction;IEA|GO:0043547;positive regulation of GTPase activity;IEA	GO:0005622;intracellular;IEA|GO:0031410;cytoplasmic vesicle;IEA	GO:0005085;guanyl-nucleotide exchange factor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RGL4			https://www.ncbi.nlm.nih.gov/omim/?term=612214	http://www.informatics.jax.org/searchtool/Search.do?query=RGL4&submit=Quick%0D%10346ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RGL4
10_101.305_148.305	Chr10:78740262-120743937	1.191	RGR	ENSG00000148604	retinal G protein coupled receptor	chr10:86004809-86019716	This gene encodes a putative retinal G-protein coupled receptor. The gene is a member of the opsin subfamily of the 7 transmembrane, G-protein coupled receptor 1 family. Like other opsins which bind retinaldehyde, it contains a conserved lysine residue in the seventh transmembrane domain. The protein acts as a photoisomerase to catalyze the conversion of all-trans-retinal to 11-cis-retinal. The reverse isomerization occurs with rhodopsin in retinal photoreceptor cells. The protein is exclusively expressed in tissue adjacent to retinal photoreceptor cells, the retinal pigment epithelium and Mueller cells. This gene may be associated with autosomal recessive and autosomal dominant retinitis pigmentosa (arRP and adRP, respectively). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]	Neutrophils; Retinal Diseases; Retinal Dystrophies|Retinitis Pigmentosa; Retinitis Pigmentosa; Alzheimer's disease 	Homozygotes for a targeted null mutation, following 8 hours of light, exhibit reductions in both total retinal (mostly 11-cis-retinal) and rhodopsin levels, and over-accumulate all-trans-retinal indicating an impaired visual cycle.	Opsins	GO:0007165;signal transduction;IEA|GO:0007186;G-protein coupled receptor signaling pathway;TAS|GO:0007601;visual perception;TAS|GO:0007602;phototransduction;IEA|GO:0018298;protein-chromophore linkage;IEA|GO:0050896;response to stimulus;IEA	GO:0005887;integral component of plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0004871;signal transducer activity;IEA|GO:0004930;G-protein coupled receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0009881;photoreceptor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RGR	https://www.uniprot.org/uniprot/P47804	https://hpo.jax.org/app/browse/search?q=RGR&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=600342	http://www.informatics.jax.org/searchtool/Search.do?query=RGR&submit=Quick%0D%9138ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RGR
22_4.194_23.194	Chr22:17733575-25291782	0.374	RIMBP3	ENSG00000275793	RIMS binding protein 3	chr22:20456003-20461786			Male mice homozygous for a null mutation display infertility with impaired spermiogenesis and defects in sperm head and flagellum morphology.				GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/RIMBP3			https://www.ncbi.nlm.nih.gov/omim/?term=612699	http://www.informatics.jax.org/searchtool/Search.do?query=RIMBP3&submit=Quick%0D%21451ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RIMBP3
22_4.194_23.194	Chr22:17733575-25291782	0.374	RIMBP3B	ENSG00000274600	RIMS binding protein 3B	chr22:21737663-21743446			Male mice homozygous for a null mutation display infertility with impaired spermiogenesis and defects in sperm head and flagellum morphology.					http://www.genecards.org/index.php?path=/Search/keyword/RIMBP3B			https://www.ncbi.nlm.nih.gov/omim/?term=612700	http://www.informatics.jax.org/searchtool/Search.do?query=RIMBP3B&submit=Quick%0D%21152ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RIMBP3B
22_4.194_23.194	Chr22:17733575-25291782	0.374	RIMBP3C	ENSG00000183246	RIMS binding protein 3C	chr22:21899646-21905750		Lupus Erythematosus, Systemic; Erythrocyte Count	Male mice homozygous for a null mutation display infertility with impaired spermiogenesis and defects in sperm head and flagellum morphology.					http://www.genecards.org/index.php?path=/Search/keyword/RIMBP3C			https://www.ncbi.nlm.nih.gov/omim/?term=612701	http://www.informatics.jax.org/searchtool/Search.do?query=RIMBP3C&submit=Quick%0D%14947ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RIMBP3C
10_101.305_148.305	Chr10:78740262-120743937	1.191	RNLS	ENSG00000184719	renalase, FAD dependent amine oxidase	chr10:90033621-90344287	Renalase is a flavin adenine dinucleotide-dependent amine oxidase that is secreted into the blood from the kidney (Xu et al., 2005 [PubMed 15841207]).[supplied by OMIM, Mar 2008]	type 1 diabetes; Schizophrenia; Heart Rate; Alzheimer's disease ; hypertension	Mice homozygous for a knock-out allele exhibit aggravated ischemic myocardial damage, increased heart rate, increased blood pressure and increased serum levels of dopamine, adrenaline and noradrenaline.	Nicotinamide salvaging	GO:0002931;response to ischemia;IEA|GO:0034356;NAD biosynthesis via nicotinamide riboside salvage pathway;TAS|GO:0055114;oxidation-reduction process;IEA|GO:0071869;response to catecholamine;IEA|GO:0071871;response to epinephrine;IEA|GO:1902074;response to salt;IEA	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IEA	GO:0016491;oxidoreductase activity;IEA|GO:0016651;oxidoreductase activity, acting on NAD(P)H;TAS	http://www.genecards.org/index.php?path=/Search/keyword/RNLS			https://www.ncbi.nlm.nih.gov/omim/?term=609360	http://www.informatics.jax.org/searchtool/Search.do?query=RNLS&submit=Quick%0D%15263ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RNLS
2_252.744_266.744	Chr2:235528138-241561721	0.223	RNPEPL1	ENSG00000142327	arginyl aminopeptidase like 1	chr2:241505221-241520789		bipolar disorder; Arthritis, Rheumatoid|Coronary Artery Disease|Crohn Disease|Crohn's disease|Diabetes mellitus type II|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Hypertension|Rheumatoid Arthritis; Bipolar Disorder	 		GO:0006508;proteolysis;IEA|GO:0043171;peptide catabolic process;IBA	GO:0005737;cytoplasm;IBA	GO:0004177;aminopeptidase activity;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IBA|GO:0016787;hydrolase activity;IEA|GO:0042277;peptide binding;IBA|GO:0046872;metal ion binding;IEA|GO:0070006;metalloaminopeptidase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RNPEPL1	https://www.uniprot.org/uniprot/Q9HAU8		https://www.ncbi.nlm.nih.gov/omim/?term=605287	http://www.informatics.jax.org/searchtool/Search.do?query=RNPEPL1&submit=Quick%0D%8275ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RNPEPL1
10_101.305_148.305	Chr10:78740262-120743937	1.191	RPEL1	ENSG00000235376	ribulose-5-phosphate-3-epimerase like 1	chr10:105005644-105007773				Pentose phosphate pathway (hexose monophosphate shunt)	GO:0005975;carbohydrate metabolic process;IEA|GO:0006098;pentose-phosphate shunt;TAS|GO:0008152;metabolic process;IEA|GO:0009052;pentose-phosphate shunt, non-oxidative branch;IBA|GO:0019323;pentose catabolic process;IBA|GO:0044262;cellular carbohydrate metabolic process;IBA	GO:0005829;cytosol;TAS	GO:0003824;catalytic activity;IEA|GO:0004750;ribulose-phosphate 3-epimerase activity;EXP|GO:0016853;isomerase activity;IEA|GO:0016857;racemase and epimerase activity, acting on carbohydrates and derivatives;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RPEL1				http://www.informatics.jax.org/searchtool/Search.do?query=RPEL1&submit=Quick%0D%19333ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RPEL1
10_101.305_148.305	Chr10:78740262-120743937	1.191	RPP30	ENSG00000148688	ribonuclease P/MRP subunit p30	chr10:92631473-92668312		Glucose; Alzheimer's disease 	 	Major pathway of rRNA processing in the nucleolus and cytosol	GO:0001682;tRNA 5'-leader removal;TAS|GO:0006364;rRNA processing;TAS|GO:0008033;tRNA processing;IEA|GO:0090501;RNA phosphodiester bond hydrolysis;IEA|GO:0090502;RNA phosphodiester bond hydrolysis, endonucleolytic;IBA	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005655;nucleolar ribonuclease P complex;TAS|GO:0005730;nucleolus;IEA	GO:0003723;RNA binding;IDA|GO:0003824;catalytic activity;IEA|GO:0004526;ribonuclease P activity;TAS|GO:0004540;ribonuclease activity;IEA|GO:0005515;protein binding;IPI|GO:0016787;hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/RPP30	https://www.uniprot.org/uniprot/P78346		https://www.ncbi.nlm.nih.gov/omim/?term=606115	http://www.informatics.jax.org/searchtool/Search.do?query=RPP30&submit=Quick%0D%9147ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RPP30
10_101.305_148.305	Chr10:78740262-120743937	1.191	RPS24	ENSG00000138326	ribosomal protein S24	chr10:79793518-79816570	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S24E family of ribosomal proteins. It is located in the cytoplasm. Multiple transcript variants encoding different isoforms have been found for this gene. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Mutations in this gene result in Diamond-Blackfan anemia. [provided by RefSeq, Nov 2008]	Schizophrenia; Anemia, Diamond-Blackfan|Diamond-Blackfan anemia; Electrocardiography; Erythrocyte Count; Cholesterol, HDL; Diamond-Blackfan anemia; Conduct Disorder; Myocardial Infarction; Metabolism	Mice homozygous die by E11 to E12.	Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)	GO:0000184;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;TAS|GO:0000462;maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);IBA|GO:0006364;rRNA processing;TAS|GO:0006412;translation;IC|GO:0006413;translational initiation;TAS|GO:0006614;SRP-dependent cotranslational protein targeting to membrane;TAS|GO:0019083;viral transcription;TAS|GO:0034101;erythrocyte homeostasis;IMP|GO:0042274;ribosomal small subunit biogenesis;IMP	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005829;cytosol;TAS|GO:0005840;ribosome;IEA|GO:0015935;small ribosomal subunit;IDA|GO:0016020;membrane;IDA|GO:0022627;cytosolic small ribosomal subunit;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA	GO:0003723;RNA binding;IDA|GO:0003735;structural constituent of ribosome;NAS|GO:0031369;translation initiation factor binding;ISS	http://www.genecards.org/index.php?path=/Search/keyword/RPS24	https://www.uniprot.org/uniprot/P62847	https://hpo.jax.org/app/browse/search?q=RPS24&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602412	http://www.informatics.jax.org/searchtool/Search.do?query=RPS24&submit=Quick%0D%7708ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RPS24
10_101.305_148.305	Chr10:78740262-120743937	1.191	RRP12	ENSG00000052749	ribosomal RNA processing 12 homolog	chr10:99116115-99161127		Alzheimer's disease ; Tobacco Use Disorder	 			GO:0005634;nucleus;IEA|GO:0005730;nucleolus;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031965;nuclear membrane;IEA	GO:0003723;RNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RRP12	https://www.uniprot.org/uniprot/Q5JTH9			http://www.informatics.jax.org/searchtool/Search.do?query=RRP12&submit=Quick%0D%948ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RRP12
22_4.194_23.194	Chr22:17733575-25291782	0.374	RTN4R	ENSG00000040608	reticulon 4 receptor	chr22:20228938-20270769	This gene encodes the receptor for reticulon 4, oligodendrocyte myelin glycoprotein and myelin-associated glycoprotein. This receptor mediates axonal growth inhibition and may play a role in regulating axonal regeneration and plasticity in the adult central nervous system. [provided by RefSeq, Jul 2008]	Psychiatric Disorders; schizophrenia	Homozygous null mice display decreased exploration in new environment, impaired coordination, and improved recovery and rubrospinal axon regeneration following spinal cord injury.	Axonal growth inhibition (RHOA activation)	GO:0006469;negative regulation of protein kinase activity;IBA|GO:0007166;cell surface receptor signaling pathway;IEA|GO:0007409;axonogenesis;IEA|GO:0010977;negative regulation of neuron projection development;IEA|GO:0019221;cytokine-mediated signaling pathway;IBA|GO:0022038;corpus callosum development;IEA|GO:0023041;neuronal signal transduction;IEA|GO:0030517;negative regulation of axon extension;IEA|GO:0035025;positive regulation of Rho protein signal transduction;IMP|GO:0043547;positive regulation of GTPase activity;IEA|GO:0046426;negative regulation of JAK-STAT cascade;IBA|GO:0048681;negative regulation of axon regeneration;IEA|GO:0050771;negative regulation of axonogenesis;TAS	GO:0005737;cytoplasm;IBA|GO:0005783;endoplasmic reticulum;IDA|GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IEA|GO:0009986;cell surface;IDA|GO:0016020;membrane;IEA|GO:0030424;axon;IEA|GO:0030425;dendrite;IEA|GO:0030426;growth cone;IEA|GO:0031225;anchored component of membrane;IEA|GO:0031362;anchored component of external side of plasma membrane;IMP|GO:0042995;cell projection;IEA|GO:0043005;neuron projection;IEA|GO:0043025;neuronal cell body;IEA|GO:0043198;dendritic shaft;IEA|GO:0043204;perikaryon;IEA|GO:0044295;axonal growth cone;IEA|GO:0045121;membrane raft;IEA|GO:0070062;extracellular exosome;IDA	GO:0004860;protein kinase inhibitor activity;IBA|GO:0004872;receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0008201;heparin binding;IEA|GO:0008289;lipid binding;IEA|GO:0035374;chondroitin sulfate binding;IEA|GO:0038131;neuregulin receptor activity;IEA|GO:1905573;ganglioside GM1 binding;IDA|GO:1905576;ganglioside GT1b binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/RTN4R	https://www.uniprot.org/uniprot/Q9BZR6		https://www.ncbi.nlm.nih.gov/omim/?term=605566	http://www.informatics.jax.org/searchtool/Search.do?query=RTN4R&submit=Quick%0D%820ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=RTN4R
22_4.194_23.194	Chr22:17733575-25291782	0.374	SCARF2	ENSG00000244486	scavenger receptor class F member 2	chr22:20778874-20792146	The protein encoded by this gene is similar to  SCARF1/SREC-I, a scavenger receptor protein that mediates the binding and degradation of acetylated low density lipoprotein (Ac-LDL). This protein has only little activity of internalizing modified low density lipoproteins (LDL), but it can interact with SCARF1 through its extracellular domain. The association of this protein with SCARF1 is suppressed by the presence of scavenger ligands. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]	Chronic renal failure|Kidney Failure, Chronic	 		GO:0006898;receptor-mediated endocytosis;IEA|GO:0007155;cell adhesion;IEA|GO:0007157;heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules;IEA	GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005044;scavenger receptor activity;IEA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SCARF2		https://hpo.jax.org/app/browse/search?q=SCARF2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613619	http://www.informatics.jax.org/searchtool/Search.do?query=SCARF2&submit=Quick%0D%19851ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SCARF2
10_101.305_148.305	Chr10:78740262-120743937	1.191	SCD	ENSG00000099194	stearoyl-CoA desaturase	chr10:102106881-102124591	This gene encodes an enzyme involved in fatty acid biosynthesis, primarily the synthesis of oleic acid. The protein belongs to the fatty acid desaturase family and is an integral membrane protein located in the endoplasmic reticulum. Transcripts of approximately 3.9 and 5.2 kb, differing only by alternative polyadenlyation signals, have been detected. A gene encoding a similar enzyme is located on chromosome 4 and a pseudogene of this gene is located on chromosome 17. [provided by RefSeq, Sep 2015]	plasma HDL cholesterol (HDL-C) levels; diabetes, type 2; Alzheimer's disease ; Type 2 Diabetes| edema | rosiglitazone	Homozygotes for targeted and spontaneous mutations exhibit alopecia, scaly skin, sebaceous gland hypoplasia, impaired ocular lubrication and synthesis and storage of triglycerides, higher lipid oxidation, reduced growth, and lower fertility in females.	Fatty acyl-CoA biosynthesis	GO:0006629;lipid metabolic process;IEA|GO:0006631;fatty acid metabolic process;IEA|GO:0006633;fatty acid biosynthetic process;IEA|GO:0006636;unsaturated fatty acid biosynthetic process;IDA|GO:0045540;regulation of cholesterol biosynthetic process;TAS|GO:0046949;fatty-acyl-CoA biosynthetic process;TAS|GO:0055114;oxidation-reduction process;IEA	GO:0005730;nucleolus;IDA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IDA	GO:0004768;stearoyl-CoA 9-desaturase activity;TAS|GO:0005506;iron ion binding;IDA|GO:0016491;oxidoreductase activity;IDA|GO:0016717;oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SCD	https://www.uniprot.org/uniprot/O00767		https://www.ncbi.nlm.nih.gov/omim/?term=604031	http://www.informatics.jax.org/searchtool/Search.do?query=SCD&submit=Quick%0D%2297ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SCD
2_252.744_266.744	Chr2:235528138-241561721	0.223	SCLY	ENSG00000132330	selenocysteine lyase	chr2:238969530-239008054	Selenocysteine lyase (SCLY; EC 4.4.1.16) catalyzes the pyridoxal 5-prime phosphate-dependent conversion of L-selenocysteine to L-alanine and elemental selenium (Mihara et al., 2000 [PubMed 10692412]).[supplied by OMIM, Mar 2008]	Tobacco Use Disorder	Mice fed a selenium-deficient diet exhibit mild learning impairment.	Metabolism of ingested SeMet, Sec, MeSec into H2Se	GO:0001887;selenium compound metabolic process;TAS|GO:0006520;cellular amino acid metabolic process;TAS|GO:0016261;selenocysteine catabolic process;IEA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:1902494;catalytic complex;IEA	GO:0003824;catalytic activity;IEA|GO:0005515;protein binding;IPI|GO:0009000;selenocysteine lyase activity;IEA|GO:0016597;amino acid binding;IEA|GO:0016740;transferase activity;IEA|GO:0016829;lyase activity;IEA|GO:0042803;protein homodimerization activity;IEA|GO:0070279;vitamin B6 binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SCLY	https://www.uniprot.org/uniprot/Q96I15		https://www.ncbi.nlm.nih.gov/omim/?term=611056	http://www.informatics.jax.org/searchtool/Search.do?query=SCLY&submit=Quick%0D%6653ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SCLY
22_4.194_23.194	Chr22:17733575-25291782	0.374	SDF2L1	ENSG00000128228	stromal cell derived factor 2 like 1	chr22:21996550-21998587		Heart Failure	 		GO:0034976;response to endoplasmic reticulum stress;IEA|GO:0035269;protein O-linked mannosylation;IEA|GO:0042981;regulation of apoptotic process;IEA|GO:0071218;cellular response to misfolded protein;IEA|GO:0071712;ER-associated misfolded protein catabolic process;IEA	GO:0005783;endoplasmic reticulum;IEA|GO:0005788;endoplasmic reticulum lumen;IEA|GO:0005789;endoplasmic reticulum membrane;IBA|GO:0016020;membrane;IEA|GO:0034663;endoplasmic reticulum chaperone complex;IEA	GO:0004169;dolichyl-phosphate-mannose-protein mannosyltransferase activity;IBA|GO:0051087;chaperone binding;IEA|GO:0051117;ATPase binding;IEA|GO:0051787;misfolded protein binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SDF2L1	https://www.uniprot.org/uniprot/Q9HCN8		https://www.ncbi.nlm.nih.gov/omim/?term=607551	http://www.informatics.jax.org/searchtool/Search.do?query=SDF2L1&submit=Quick%0D%6108ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SDF2L1
10_101.305_148.305	Chr10:78740262-120743937	1.191	SEC31B	ENSG00000075826	SEC31 homolog B, COPII coat complex component	chr10:102246399-102289628	This gene encodes a protein of unknown function. The protein has moderate similarity to rat VAP1 protein which is an endosomal membrane-associated protein, containing a putative Ca2+/calmodulin-dependent kinase II phosphorylation site. [provided by RefSeq, Jul 2008]	Alzheimer's disease 	 		GO:0006810;transport;IEA|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA	GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0012507;ER to Golgi transport vesicle membrane;IEA|GO:0016020;membrane;IEA|GO:0030120;vesicle coat;IDA|GO:0031410;cytoplasmic vesicle;IEA		http://www.genecards.org/index.php?path=/Search/keyword/SEC31B	https://www.uniprot.org/uniprot/Q9NQW1		https://www.ncbi.nlm.nih.gov/omim/?term=610258	http://www.informatics.jax.org/searchtool/Search.do?query=SEC31B&submit=Quick%0D%1563ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEC31B
10_101.305_148.305	Chr10:78740262-120743937	1.191	SEMA4G	ENSG00000095539	semaphorin 4G	chr10:102729275-102745628	Semaphorins are a large family of conserved secreted and membrane associated proteins which possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Based on sequence and structural similarities, semaphorins are put into eight classes: invertebrates contain classes 1 and 2, viruses have class V, and vertebrates contain classes 3-7. Semaphorins serve as axon guidance ligands via multimeric receptor complexes, some (if not all) containing plexin proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]	Alzheimer's disease ; Carcinoma, Renal Cell|Kidney Neoplasms	Mice homozygous for a targeted allele exhibit normal cerebellar morphology.		GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0030154;cell differentiation;IEA	GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SEMA4G	https://www.uniprot.org/uniprot/Q9NTN9			http://www.informatics.jax.org/searchtool/Search.do?query=SEMA4G&submit=Quick%0D%2249ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SEMA4G
22_4.194_23.194	Chr22:17733575-25291782	0.374	SERPIND1	ENSG00000099937	serpin family D member 1	chr22:21128167-21142008	This gene belongs to the serpin gene superfamily. Serpins play roles in many processes including inflammation, blood clotting, and cancer metastasis. Members of this family have highly conserved secondary structures with a reactive center loop that interacts with the protease active site to inhibit protease activity. This gene encodes a plasma serine protease that functions as a thrombin and chymotrypsin inhibitor. The protein is activated by heparin, dermatan sulfate, and glycosaminoglycans. Allelic variations in this gene are associated with heparin cofactor II deficiency. [provided by RefSeq, Jul 2015]	Type 2 Diabetes| edema | rosiglitazone	Mice homozygous for disruptions in this gene display a normal phenotype.	Post-translational protein phosphorylation	GO:0006935;chemotaxis;IEA|GO:0007596;blood coagulation;TAS|GO:0007599;hemostasis;IEA|GO:0008218;bioluminescence;IEA|GO:0010466;negative regulation of peptidase activity;IEA|GO:0010951;negative regulation of endopeptidase activity;IEA|GO:0043687;post-translational protein modification;TAS|GO:0044267;cellular protein metabolic process;TAS	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IBA|GO:0005788;endoplasmic reticulum lumen;TAS|GO:0070062;extracellular exosome;IDA	GO:0004866;endopeptidase inhibitor activity;TAS|GO:0004867;serine-type endopeptidase inhibitor activity;IEA|GO:0008201;heparin binding;IEA|GO:0030414;peptidase inhibitor activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SERPIND1	https://www.uniprot.org/uniprot/P05546	https://hpo.jax.org/app/browse/search?q=SERPIND1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=142360	http://www.informatics.jax.org/searchtool/Search.do?query=SERPIND1&submit=Quick%0D%2353ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SERPIND1
10_101.305_148.305	Chr10:78740262-120743937	1.191	SFR1	ENSG00000156384	SWI5 dependent homologous recombination repair protein 1	chr10:105881816-105886143		Alzheimer's disease 	 		GO:0000724;double-strand break repair via homologous recombination;IMP|GO:0006281;DNA repair;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0045893;positive regulation of transcription, DNA-templated;IDA|GO:0071391;cellular response to estrogen stimulus;IDA	GO:0005634;nucleus;IDA|GO:0032798;Swi5-Sfr1 complex;IDA	GO:0005515;protein binding;IPI|GO:0030374;ligand-dependent nuclear receptor transcription coactivator activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SFR1	https://www.uniprot.org/uniprot/Q86XK3		https://www.ncbi.nlm.nih.gov/omim/?term=616527	http://www.informatics.jax.org/searchtool/Search.do?query=SFR1&submit=Quick%0D%9973ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SFR1
10_101.305_148.305	Chr10:78740262-120743937	1.191	SFRP5	ENSG00000120057	secreted frizzled related protein 5	chr10:99526508-99531709	Secreted frizzled-related protein 5 (SFRP5) is a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. SFRPs act as soluble modulators of Wnt signaling. SFRP5 and SFRP1 may be involved in determining the polarity of photoreceptor cells in the retina. SFRP5 is highly expressed in the retinal pigment epithelium, and moderately expressed in the pancreas. [provided by RefSeq, Jul 2008]	Body Height; Platelet Aggregation; asthma	Mice homozygous for a null mutation are viable and fertile with no developmental abnormalities.		GO:0006915;apoptotic process;TAS|GO:0007163;establishment or maintenance of cell polarity;TAS|GO:0007165;signal transduction;TAS|GO:0007275;multicellular organism development;IEA|GO:0007601;visual perception;TAS|GO:0008285;negative regulation of cell proliferation;IMP|GO:0009653;anatomical structure morphogenesis;TAS|GO:0016055;Wnt signaling pathway;IEA|GO:0030154;cell differentiation;IEA|GO:0030178;negative regulation of Wnt signaling pathway;NAS|GO:0035414;negative regulation of catenin import into nucleus;IMP|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IMP|GO:0051898;negative regulation of protein kinase B signaling;IMP|GO:0090090;negative regulation of canonical Wnt signaling pathway;IMP|GO:2000057;negative regulation of Wnt signaling pathway involved in digestive tract morphogenesis;IMP	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;TAS	GO:0017147;Wnt-protein binding;NAS	http://www.genecards.org/index.php?path=/Search/keyword/SFRP5	https://www.uniprot.org/uniprot/Q5T4F7		https://www.ncbi.nlm.nih.gov/omim/?term=604158	http://www.informatics.jax.org/searchtool/Search.do?query=SFRP5&submit=Quick%0D%5159ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SFRP5
10_101.305_148.305	Chr10:78740262-120743937	1.191	SFTPA1	ENSG00000122852	surfactant protein A1	chr10:81370695-81375196	This gene encodes a lung surfactant protein that is a member of a subfamily of C-type lectins called collectins. The encoded protein binds specific carbohydrate moieties found on lipids and on the surface of microorganisms. This protein plays an essential role in surfactant homeostasis and in the defense against respiratory pathogens. Mutations in this gene are associated with idiopathic pulmonary fibrosis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]	Respiratory Syncytial Virus Infections; Alzheimer's disease ; COPD | Chronic obstructive Pulmonary Disease; Urinary tract infection|Urinary Tract Infections; Sudden Infant Death; Lung Diseases|Resp distress syndrome neonatal|Respiratory Distress Syndrome, Newborn	Homozygotes for targeted null mutations exhibit impaired lung response to hyperventilation, reduced resistance to pulmonary infections, and enhanced pulmonary inflammatory response to lipopolysaccharide.	Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4)	GO:0002224;toll-like receptor signaling pathway;TAS|GO:0006869;lipid transport;IEA|GO:0007585;respiratory gaseous exchange;IEA|GO:0008228;opsonization;IMP|GO:0044267;cellular protein metabolic process;TAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005615;extracellular space;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0042599;lamellar body;TAS|GO:0045334;clathrin-coated endocytic vesicle;TAS	GO:0005319;lipid transporter activity;TAS|GO:0005515;protein binding;IPI|GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SFTPA1	https://www.uniprot.org/uniprot/Q8IWL2	https://hpo.jax.org/app/browse/search?q=SFTPA1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=178630	http://www.informatics.jax.org/searchtool/Search.do?query=SFTPA1&submit=Quick%0D%5459ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SFTPA1
10_101.305_148.305	Chr10:78740262-120743937	1.191	SFTPA2	ENSG00000185303	surfactant protein A2	chr10:81315608-81320153	This gene is one of several genes encoding pulmonary-surfactant associated proteins (SFTPA) located on chromosome 10. Mutations in this gene and a highly similar gene located nearby, which affect the highly conserved carbohydrate recognition domain, are associated with idiopathic pulmonary fibrosis. The current version of the assembly displays only a single centromeric SFTPA gene pair rather than the two gene pairs shown in the previous assembly which were thought to have resulted from a duplication. [provided by RefSeq, Sep 2009]	Spondylarthritis; Alzheimer's disease ; COPD | Chronic obstructive Pulmonary Disease; Urinary tract infection|Urinary Tract Infections; Sudden Infant Death; Lung Diseases|Resp distress syndrome neonatal|Respiratory Distress Syndrome, Newborn	Homozygotes for targeted null mutations exhibit impaired lung response to hyperventilation, reduced resistance to pulmonary infections, and enhanced pulmonary inflammatory response to lipopolysaccharide.	Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4)	GO:0002224;toll-like receptor signaling pathway;TAS|GO:0007585;respiratory gaseous exchange;IEA|GO:0044267;cellular protein metabolic process;TAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005615;extracellular space;IEA|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0042599;lamellar body;TAS|GO:0045334;clathrin-coated endocytic vesicle;TAS	GO:0030246;carbohydrate binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SFTPA2		https://hpo.jax.org/app/browse/search?q=SFTPA2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=178642	http://www.informatics.jax.org/searchtool/Search.do?query=SFTPA2&submit=Quick%0D%15390ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SFTPA2
10_101.305_148.305	Chr10:78740262-120743937	1.191	SFTPD	ENSG00000133661	surfactant protein D	chr10:81697496-81742370	The protein encoded by this gene is part of the innate immune response, protecting the lungs against inhaled microorganisms and chemicals. The encoded protein may also be involved in surfactant metabolism. [provided by RefSeq, Jul 2015]	Periodontitis; chronic obstructive pulmonary disease; esophageal adenocarcinoma; respiratory syncytial virus bronchiolitis; Colitis, Ulcerative|; Pneumonia|Respiratory Distress Syndrome, Newborn|Sepsis; Type 2 Diabetes| edema | rosiglitazone; Sudden Infant Death; Coronary Disease|Inflammation; Arthritis, Rheumatoid|Rheumatoid Arthritis; lung cancer ; lung cancer; Asthma|Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; Bronchopulmonary Dysplasia|Respiratory Distress Syndrome, Newborn; respiratory distress syndrome, neonatal; Bronchiolitis, Viral|Respiratory Syncytial Virus Infections; bronchopulmonary dysplasia; Rhinitis, Allergic, Perennial; bladder cancer; asthma; Concentration of Surfactant Protein D; Cystic Fibrosis; surfactant protein-D; respiratory syncytial virus; meningococcal disease; blood pressure; COPD | Chronic obstructive Pulmonary Disease; Alzheimer's disease ; Respiratory Syncytial Virus Infections; pulmonary fibrosis; respiratory syncytial virus infection; Lung Diseases|Resp distress syndrome neonatal|Respiratory Distress Syndrome, Newborn; patent ductus arteriosus	Homozygotes for targeted null mutations exhibit increased pool sizes of alveolar and tissue phosphatidylcholine, accumulation of surfactant lipids, altered phospholipid structure, emphysema, and pulmonary fibrosis and chronic inflammation.	Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4)	GO:0001817;regulation of cytokine production;NAS|GO:0002224;toll-like receptor signaling pathway;TAS|GO:0002376;immune system process;IEA|GO:0006898;receptor-mediated endocytosis;TAS|GO:0007585;respiratory gaseous exchange;IEA|GO:0042130;negative regulation of T cell proliferation;TAS|GO:0042742;defense response to bacterium;TAS|GO:0043129;surfactant homeostasis;IMP|GO:0044267;cellular protein metabolic process;TAS|GO:0045085;negative regulation of interleukin-2 biosynthetic process;TAS|GO:0045087;innate immune response;IEA|GO:0048246;macrophage chemotaxis;TAS|GO:0048286;lung alveolus development;IMP|GO:0050766;positive regulation of phagocytosis;TAS|GO:0050776;regulation of immune response;TAS|GO:0072593;reactive oxygen species metabolic process;TAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005581;collagen trimer;IEA|GO:0005615;extracellular space;IEA|GO:0005737;cytoplasm;IEA|GO:0005764;lysosome;TAS|GO:0005789;endoplasmic reticulum membrane;TAS|GO:0030139;endocytic vesicle;TAS|GO:0042599;lamellar body;TAS|GO:0045334;clathrin-coated endocytic vesicle;TAS	GO:0005515;protein binding;IPI|GO:0030246;carbohydrate binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SFTPD	https://www.uniprot.org/uniprot/P35247		https://www.ncbi.nlm.nih.gov/omim/?term=178635	http://www.informatics.jax.org/searchtool/Search.do?query=SFTPD&submit=Quick%0D%6856ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SFTPD
10_101.305_148.305	Chr10:78740262-120743937	1.191	SFXN2	ENSG00000156398	sideroflexin 2	chr10:104474295-104503249		Parkinson's disease; Acquired Immunodeficiency Syndrome|Disease Progression; Alzheimer's disease 	 		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0055072;iron ion homeostasis;IEA|GO:0055085;transmembrane transport;IEA	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031966;mitochondrial membrane;IEA	GO:0015075;ion transmembrane transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SFXN2	https://www.uniprot.org/uniprot/Q96NB2		https://www.ncbi.nlm.nih.gov/omim/?term=615570	http://www.informatics.jax.org/searchtool/Search.do?query=SFXN2&submit=Quick%0D%9975ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SFXN2
10_101.305_148.305	Chr10:78740262-120743937	1.191	SFXN3	ENSG00000107819	sideroflexin 3	chr10:102790991-102800998		Acquired Immunodeficiency Syndrome|Disease Progression	Mice homozygous for a knock-out allele exhibit normal mitochondrial bioenergetics in isolated synaptosomes.		GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0034220;ion transmembrane transport;IEA|GO:0055072;iron ion homeostasis;IEA|GO:0055085;transmembrane transport;IEA	GO:0005739;mitochondrion;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031966;mitochondrial membrane;IEA	GO:0015075;ion transmembrane transporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SFXN3	https://www.uniprot.org/uniprot/Q9BWM7		https://www.ncbi.nlm.nih.gov/omim/?term=615571	http://www.informatics.jax.org/searchtool/Search.do?query=SFXN3&submit=Quick%0D%3642ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SFXN3
22_4.194_23.194	Chr22:17733575-25291782	0.374	SGSM1	ENSG00000167037	small G protein signaling modulator 1	chr22:25202236-25323545		Tobacco Use Disorder; Type 2 Diabetes| edema | rosiglitazone	 		GO:0006886;intracellular protein transport;IBA|GO:0031338;regulation of vesicle fusion;IBA|GO:0090630;activation of GTPase activity;IBA	GO:0005737;cytoplasm;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;IDA|GO:0012505;endomembrane system;IBA|GO:0016020;membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IDA|GO:0031410;cytoplasmic vesicle;IEA	GO:0005096;GTPase activator activity;IDA|GO:0017137;Rab GTPase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SGSM1			https://www.ncbi.nlm.nih.gov/omim/?term=611417	http://www.informatics.jax.org/searchtool/Search.do?query=SGSM1&submit=Quick%0D%11935ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SGSM1
10_101.305_148.305	Chr10:78740262-120743937	1.191	SH2D4B	ENSG00000178217	SH2 domain containing 4B	chr10:82297658-82406316		Tobacco Use Disorder	 					http://www.genecards.org/index.php?path=/Search/keyword/SH2D4B				http://www.informatics.jax.org/searchtool/Search.do?query=SH2D4B&submit=Quick%0D%14154ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SH2D4B
2_252.744_266.744	Chr2:235528138-241561721	0.223	SH3BP4	ENSG00000130147	SH3 domain binding protein 4	chr2:235860617-235964358	This gene encodes a protein with 3 Asn-Pro-Phe (NPF) motifs, an SH3 domain, a PXXP motif, a bipartite nuclear targeting signal, and a tyrosine phosphorylation site. This protein is involved in cargo-specific control of clathrin-mediated endocytosis, specifically controlling the internalization of a specific protein receptor. [provided by RefSeq, Jul 2008]	Cleft Palate; Heart Rate; Tobacco Use Disorder; Glucose; Diabetes Mellitus, Type 2; Magnesium; Body Height; Blood Pressure	 		GO:0006897;endocytosis;IEA|GO:0008285;negative regulation of cell proliferation;IMP|GO:0010508;positive regulation of autophagy;IMP|GO:0030308;negative regulation of cell growth;IMP|GO:0032007;negative regulation of TOR signaling;IMP|GO:0034260;negative regulation of GTPase activity;IDA|GO:0050790;regulation of catalytic activity;IMP|GO:0061462;protein localization to lysosome;IMP|GO:0071230;cellular response to amino acid stimulus;IMP	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005905;clathrin-coated pit;IEA|GO:0016020;membrane;IEA|GO:0030136;clathrin-coated vesicle;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0070062;extracellular exosome;IDA	GO:0005092;GDP-dissociation inhibitor activity;IMP|GO:0005515;protein binding;IPI|GO:0017016;Ras GTPase binding;IPI|GO:0042802;identical protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SH3BP4	https://www.uniprot.org/uniprot/Q9P0V3		https://www.ncbi.nlm.nih.gov/omim/?term=605611	http://www.informatics.jax.org/searchtool/Search.do?query=SH3BP4&submit=Quick%0D%6317ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SH3BP4
10_101.305_148.305	Chr10:78740262-120743937	1.191	SH3PXD2A	ENSG00000107957	SH3 and PX domains 2A	chr10:105348285-105615301		Metabolism; Alzheimer's disease ; Tobacco Use Disorder	Homozygous disruption of this gene results in high neonatal lethality associated with a complete cleft of the secondary palate.	Invadopodia formation	GO:0006801;superoxide metabolic process;IDA|GO:0030198;extracellular matrix organization;TAS|GO:0043085;positive regulation of catalytic activity;IEA|GO:0055114;oxidation-reduction process;IBA|GO:0071800;podosome assembly;IBA|GO:0072593;reactive oxygen species metabolic process;IEA|GO:0072675;osteoclast fusion;IMP	GO:0002102;podosome;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0030054;cell junction;IEA|GO:0042995;cell projection;IEA	GO:0005515;protein binding;IPI|GO:0016176;superoxide-generating NADPH oxidase activator activity;IBA|GO:0035091;phosphatidylinositol binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SH3PXD2A	https://www.uniprot.org/uniprot/Q5TCZ1			http://www.informatics.jax.org/searchtool/Search.do?query=SH3PXD2A&submit=Quick%0D%3664ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SH3PXD2A
10_101.305_148.305	Chr10:78740262-120743937	1.191	SHOC2	ENSG00000108061	SHOC2, leucine rich repeat scaffold protein	chr10:112679301-112773425	This gene encodes a protein that consists almost entirely of leucine-rich repeats, a domain implicated in protein-protein interactions. The protein may function as a scaffold linking RAS to downstream signal transducers in the RAS/ERK MAP kinase signaling cascade. Mutations in this gene have been associated with Noonan-like syndrome with loose anagen hair. [provided by RefSeq, May 2010]	Noonan-like syndrome with loose anagen hair	Shoc2 is essential for embryonic development, as germline deletion results in early embryonic lethality. Endothelial cell-specific deletion causes defects in cardiac development, and results in late embryonic/early fetal lethality.		GO:0007265;Ras protein signal transduction;NAS|GO:0008543;fibroblast growth factor receptor signaling pathway;NAS|GO:0046579;positive regulation of Ras protein signal transduction;IMP|GO:0050790;regulation of catalytic activity;IEA	GO:0000164;protein phosphatase type 1 complex;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;IDA	GO:0005515;protein binding;IPI|GO:0008157;protein phosphatase 1 binding;IDA|GO:0019888;protein phosphatase regulator activity;TAS|GO:0019903;protein phosphatase binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SHOC2	https://www.uniprot.org/uniprot/Q9UQ13	https://hpo.jax.org/app/browse/search?q=SHOC2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602775	http://www.informatics.jax.org/searchtool/Search.do?query=SHOC2&submit=Quick%0D%3675ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SHOC2
10_101.305_148.305	Chr10:78740262-120743937	1.191	SLC16A12	ENSG00000152779	solute carrier family 16 member 12	chr10:91190051-91316398	This gene encodes a transmembrane transporter that likely plays a role in monocarboxylic acid transport. A mutation in this gene has been associated with juvenile cataracts with microcornea and renal glucosuria. [provided by RefSeq, Mar 2010]	Cataract; Body Mass Index; Body Weight; Alzheimer's disease 	 		GO:0055085;transmembrane transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/SLC16A12	https://www.uniprot.org/uniprot/Q6ZSM3	https://hpo.jax.org/app/browse/search?q=SLC16A12&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=611910	http://www.informatics.jax.org/searchtool/Search.do?query=SLC16A12&submit=Quick%0D%9591ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC16A12
10_101.305_148.305	Chr10:78740262-120743937	1.191	SLC18A2	ENSG00000165646	solute carrier family 18 member A2	chr10:119000604-119038941	The vesicular monoamine transporter acts to accumulate cytosolic monoamines into synaptic vesicles, using the proton gradient maintained across the synaptic vesicular membrane. Its proper function is essential to the correct activity of the monoaminergic systems that have been implicated in several human neuropsychiatric disorders. The transporter is a site of action of important drugs, including reserpine and tetrabenazine (summary by Peter et al., 1993 [PubMed 7905859]). See also SLC18A1 (MIM 193002).[supplied by OMIM, Jan 2011]	Narcolepsy; Marijuana Abuse|Psychoses, Substance-Induced; null; Tobacco Use Disorder; Bulimia; alcohol abuse; nicotine dependence; Weight Gain; Parkinson's disease; alcohol abuse; financial and psychological risk attitudes; Respiratory Function Tests; alcohol consumption; bipolar disorder schizophrenia; smoking cessation; Parkinson's disease; schizophrenia; Bipolar Disorder; antidepressant response	Nullizygous mice exhibit early postnatal death accompanied by reduced body size, hypokinesia, and reduced brain monoamine levels. Hypomorphic mutants show impaired olfaction, gastroparesis, altered sleep latency, neuron degeneration, enhanced MPTP sensitivity, anxiety- and depressive-like behavior.	Na+/Cl- dependent neurotransmitter transporters	GO:0001975;response to amphetamine;IEA|GO:0006810;transport;IEA|GO:0006836;neurotransmitter transport;IEA|GO:0006837;serotonin transport;IEA|GO:0007268;chemical synaptic transmission;TAS|GO:0007269;neurotransmitter secretion;TAS|GO:0007626;locomotory behavior;IEA|GO:0009636;response to toxic substance;IEA|GO:0009791;post-embryonic development;IEA|GO:0015842;aminergic neurotransmitter loading into synaptic vesicle;IBA|GO:0015844;monoamine transport;TAS|GO:0015872;dopamine transport;TAS|GO:0042137;sequestering of neurotransmitter;NAS|GO:0055085;transmembrane transport;IEA|GO:0098700;neurotransmitter loading into synaptic vesicle;TAS|GO:1903427;negative regulation of reactive oxygen species biosynthetic process;NAS	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;TAS|GO:0008021;synaptic vesicle;TAS|GO:0016020;membrane;TAS|GO:0016021;integral component of membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA|GO:0070083;clathrin-sculpted monoamine transport vesicle membrane;TAS	GO:0008504;monoamine transmembrane transporter activity;TAS|GO:0015222;serotonin transmembrane transporter activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SLC18A2		https://hpo.jax.org/app/browse/search?q=SLC18A2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=193001	http://www.informatics.jax.org/searchtool/Search.do?query=SLC18A2&submit=Quick%0D%11589ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC18A2
22_4.194_23.194	Chr22:17733575-25291782	0.374	SLC25A1	ENSG00000100075	solute carrier family 25 member 1	chr22:19163095-19166343	This gene encodes a member of the mitochondrial carrier subfamily of solute carrier proteins. Members of this family include nuclear-encoded transporters that translocate small metabolites across the mitochondrial membrane. This protein regulates the movement of citrate across the inner membranes of the mitochondria. Mutations in this gene have been associated with combined D-2- and L-2-hydroxyglutaric aciduria. Pseudogenes of this gene have been identified on chromosomes 7, 11, 16, and 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]	Celiac Disease|; Acquired Immunodeficiency Syndrome|Disease Progression	 	Fatty acyl-CoA biosynthesis	GO:0006094;gluconeogenesis;TAS|GO:0006810;transport;IEA|GO:0006843;mitochondrial citrate transport;IBA|GO:0035674;tricarboxylic acid transmembrane transport;IEA|GO:0046949;fatty-acyl-CoA biosynthetic process;TAS|GO:0055085;transmembrane transport;IEA	GO:0005634;nucleus;IDA|GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0015137;citrate transmembrane transporter activity;TAS|GO:0015142;tricarboxylic acid transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLC25A1	https://www.uniprot.org/uniprot/P53007	https://hpo.jax.org/app/browse/search?q=SLC25A1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=190315	http://www.informatics.jax.org/searchtool/Search.do?query=SLC25A1&submit=Quick%0D%2394ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC25A1
22_4.194_23.194	Chr22:17733575-25291782	0.374	SLC25A18	ENSG00000182902	solute carrier family 25 member 18	chr22:18043139-18073760		Acquired Immunodeficiency Syndrome|Disease Progression	 	Organic anion transporters	GO:0006810;transport;IEA|GO:0006811;ion transport;TAS|GO:0006839;mitochondrial transport;IBA|GO:0015992;proton transport;IEA|GO:0055085;transmembrane transport;IEA|GO:0089711;L-glutamate transmembrane transport;IEA	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IBA	GO:0005280;hydrogen:amino acid symporter activity;TAS|GO:0005314;high-affinity glutamate transmembrane transporter activity;IBA|GO:0005515;protein binding;IPI|GO:0015293;symporter activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SLC25A18			https://www.ncbi.nlm.nih.gov/omim/?term=609303	http://www.informatics.jax.org/searchtool/Search.do?query=SLC25A18&submit=Quick%0D%14878ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC25A18
10_101.305_148.305	Chr10:78740262-120743937	1.191	SLC25A28	ENSG00000155287	solute carrier family 25 member 28	chr10:101370282-101380366		Acquired Immunodeficiency Syndrome|Disease Progression; Alzheimer's disease 	 	Mitochondrial iron-sulfur cluster biogenesis	GO:0006810;transport;IEA|GO:0006811;ion transport;IEA|GO:0034755;iron ion transmembrane transport;IEA|GO:0048250;mitochondrial iron ion transport;IBA|GO:0055072;iron ion homeostasis;IEA	GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005381;iron ion transmembrane transporter activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SLC25A28	https://www.uniprot.org/uniprot/Q96A46		https://www.ncbi.nlm.nih.gov/omim/?term=609767	http://www.informatics.jax.org/searchtool/Search.do?query=SLC25A28&submit=Quick%0D%9856ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC25A28
22_4.194_23.194	Chr22:17733575-25291782	0.374	SLC2A11	ENSG00000275744	solute carrier family 2 member 11	chr22:24198890-24228496	This gene belongs to a family of proteins that mediate the transport of sugars across the cell membrane. The encoded protein transports glucose and fructose. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]	Meningeal Neoplasms|meningioma; Birth Weight|Leukemia|Leukemia, Myeloid, Acute|Precursor Cell Lymphoblastic Leukemia-Lymphoma	 	Cellular hexose transport	GO:0006810;transport;IEA|GO:0008643;carbohydrate transport;IEA|GO:0034219;carbohydrate transmembrane transport;IEA|GO:0055085;transmembrane transport;IEA	GO:0005634;nucleus;IDA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030054;cell junction;IDA	GO:0005215;transporter activity;IEA|GO:0022857;transmembrane transporter activity;IEA|GO:0022891;substrate-specific transmembrane transporter activity;IEA|GO:0051119;sugar transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLC2A11	https://www.uniprot.org/uniprot/Q9BYW1		https://www.ncbi.nlm.nih.gov/omim/?term=610367	http://www.informatics.jax.org/searchtool/Search.do?query=SLC2A11&submit=Quick%0D%21438ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC2A11
10_101.305_148.305	Chr10:78740262-120743937	1.191	SLC35G1	ENSG00000176273	solute carrier family 35 member G1	chr10:95653730-95715819	This gene encodes a transmembrane protein which is a member of the drug/metabolite transporter protein superfamily. The encoded protein may play a role in the regulation of calcium levels inside the cell. [provided by RefSeq, Sep 2016]		 		GO:0051480;regulation of cytosolic calcium ion concentration;IMP|GO:1990034;calcium ion export from cell;IMP	GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IDA|GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SLC35G1			https://www.ncbi.nlm.nih.gov/omim/?term=617167	http://www.informatics.jax.org/searchtool/Search.do?query=SLC35G1&submit=Quick%0D%13835ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC35G1
22_4.194_23.194	Chr22:17733575-25291782	0.374	SLC7A4	ENSG00000099960	solute carrier family 7 member 4	chr22:21383007-21387129			 		GO:0003333;amino acid transmembrane transport;IEA|GO:0006520;cellular amino acid metabolic process;TAS|GO:0006810;transport;TAS|GO:0006865;amino acid transport;IEA|GO:1990822;basic amino acid transmembrane transport;IEA	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;TAS	GO:0015171;amino acid transmembrane transporter activity;IEA|GO:0015174;basic amino acid transmembrane transporter activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SLC7A4	https://www.uniprot.org/uniprot/O43246		https://www.ncbi.nlm.nih.gov/omim/?term=603752	http://www.informatics.jax.org/searchtool/Search.do?query=SLC7A4&submit=Quick%0D%2362ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLC7A4
10_101.305_148.305	Chr10:78740262-120743937	1.191	SLIT1	ENSG00000187122	slit guidance ligand 1	chr10:98757795-98945677		Alzheimer's disease ; Brain	Mice homozygous for a reporter allele exhibit normal interneuron numbers and morphology.	Netrin-1 signaling	GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007409;axonogenesis;IEA|GO:0007411;axon guidance;IDA|GO:0008045;motor neuron axon guidance;IMP|GO:0021772;olfactory bulb development;IEA|GO:0022028;tangential migration from the subventricular zone to the olfactory bulb;IEA|GO:0022029;telencephalon cell migration;IEA|GO:0030154;cell differentiation;IEA|GO:0031290;retinal ganglion cell axon guidance;IEA|GO:0033563;dorsal/ventral axon guidance;IEA|GO:0040023;establishment of nucleus localization;IEA|GO:0048812;neuron projection morphogenesis;IEA|GO:0048846;axon extension involved in axon guidance;IDA|GO:0048853;forebrain morphogenesis;NAS|GO:0050919;negative chemotaxis;IDA|GO:0051964;negative regulation of synapse assembly;ISS	GO:0005576;extracellular region;IEA|GO:0005615;extracellular space;NAS|GO:0005623;cell;IEA	GO:0005509;calcium ion binding;NAS|GO:0048495;Roundabout binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SLIT1			https://www.ncbi.nlm.nih.gov/omim/?term=603742	http://www.informatics.jax.org/searchtool/Search.do?query=SLIT1&submit=Quick%0D%15783ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLIT1
10_101.305_148.305	Chr10:78740262-120743937	1.191	SLK	ENSG00000065613	STE20 like kinase	chr10:105726959-105788991		Chronic renal failure|Kidney Failure, Chronic; Alzheimer's disease 	Mice homozygous for a gene trapped allele die by E14.5, exhibiting severe developmental defects, impaired neuronal and skeletal muscle development, abnormal placental differentiation and vascularization, and increased apoptosis.		GO:0006468;protein phosphorylation;IEA|GO:0006915;apoptotic process;IEA|GO:0016310;phosphorylation;IEA|GO:0023014;signal transduction by protein phosphorylation;IEA|GO:0030334;regulation of cell migration;IMP|GO:0031122;cytoplasmic microtubule organization;IMP|GO:0042981;regulation of apoptotic process;IDA|GO:0046777;protein autophosphorylation;IDA|GO:0051893;regulation of focal adhesion assembly;IDA	GO:0005737;cytoplasm;IDA|GO:0031252;cell leading edge;ISS|GO:0048471;perinuclear region of cytoplasm;IDA|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IDA|GO:0004702;signal transducer, downstream of receptor, with serine/threonine kinase activity;IBA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IDA|GO:0045296;cadherin binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SLK	https://www.uniprot.org/uniprot/Q9H2G2		https://www.ncbi.nlm.nih.gov/omim/?term=616563	http://www.informatics.jax.org/searchtool/Search.do?query=SLK&submit=Quick%0D%1185ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SLK
22_4.194_23.194	Chr22:17733575-25291782	0.374	SMARCB1	ENSG00000275837	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	chr22:24129150-24176703	The protein encoded by this gene is part of a complex that relieves repressive chromatin structures, allowing the transcriptional machinery to access its targets more effectively. The encoded nuclear protein may also bind to and enhance the DNA joining activity of HIV-1 integrase. This gene has been found to be a tumor suppressor, and mutations in it have been associated with malignant rhabdoid tumors. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]	rhabdoid tumors; Rhabdoid predisposition syndrome; Type 2 Diabetes| edema | rosiglitazone; Meningeal Neoplasms|meningioma; Rhabdoid Tumor; Pancreatic Neoplasms; bronchodilator response	Homozygous inactivation of this gene leads to peri-implantation lethality, likely due to an inability of the blastocysts to hatch and implant in the uterus. A subset of heterozygous null mice develop a variety of tumors in the soft tissues of the head and neck.	RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known	GO:0006281;DNA repair;IBA|GO:0006337;nucleosome disassembly;IDA|GO:0006338;chromatin remodeling;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;NAS|GO:0007049;cell cycle;IEA|GO:0007399;nervous system development;IEA|GO:0008285;negative regulation of cell proliferation;IBA|GO:0015074;DNA integration;TAS|GO:0016032;viral process;IEA|GO:0016569;covalent chromatin modification;IEA|GO:0030154;cell differentiation;IBA|GO:0039692;single stranded viral RNA replication via double stranded DNA intermediate;IDA|GO:0043044;ATP-dependent chromatin remodeling;IDA|GO:0043923;positive regulation by host of viral transcription;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0090240;positive regulation of histone H4 acetylation;IMP|GO:1900110;negative regulation of histone H3-K9 dimethylation;IMP|GO:1900113;negative regulation of histone H3-K9 trimethylation;IMP|GO:1901838;positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter;IGI|GO:1902661;positive regulation of glucose mediated signaling pathway;IDA|GO:2000617;positive regulation of histone H3-K9 acetylation;IMP	GO:0000228;nuclear chromosome;IEA|GO:0000790;nuclear chromatin;IDA|GO:0001650;fibrillar center;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;IDA|GO:0005730;nucleolus;IDA|GO:0016514;SWI/SNF complex;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0043234;protein complex;IDA|GO:0071564;npBAF complex;ISS|GO:0071565;nBAF complex;ISS	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0000980;RNA polymerase II distal enhancer sequence-specific DNA binding;IDA|GO:0001164;RNA polymerase I CORE element sequence-specific DNA binding;IMP|GO:0002039;p53 binding;IPI|GO:0003677;DNA binding;IDA|GO:0003713;transcription coactivator activity;IMP|GO:0005515;protein binding;IPI|GO:0030957;Tat protein binding;IPI|GO:0031492;nucleosomal DNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SMARCB1	https://www.uniprot.org/uniprot/Q12824	https://hpo.jax.org/app/browse/search?q=SMARCB1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=601607	http://www.informatics.jax.org/searchtool/Search.do?query=SMARCB1&submit=Quick%0D%21462ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SMARCB1
10_101.305_148.305	Chr10:78740262-120743937	1.191	SMC3	ENSG00000108055	structural maintenance of chromosomes 3	chr10:112327449-112364394	This gene belongs to the SMC3 subfamily of SMC proteins. The encoded protein occurs in certain cell types as either an intracellular, nuclear protein or a secreted protein. The nuclear form, known as structural maintenance of chromosomes 3, is a component of the multimeric cohesin complex that holds together sister chromatids during mitosis, enabling proper chromosome segregation. Post-translational modification of the encoded protein by the addition of chondroitin sulfate chains gives rise to the secreted proteoglycan bamacan, an abundant basement membrane protein. [provided by RefSeq, Jul 2008]	Alzheimer's disease ; Cornelia De Lange Syndrome|De Lange Syndrome	Mice homozygous for a knock-out allele exhibit complete embryonic lethality. Mice heterozygous for this allele exhibit partial postnatal lethality, decreased body weight, abnormal craniofacial morphology, and increased T cell number.	SUMOylation of DNA damage response and repair proteins	GO:0000278;mitotic cell cycle;TAS|GO:0006275;regulation of DNA replication;IMP|GO:0006281;DNA repair;IEA|GO:0006974;cellular response to DNA damage stimulus;IEA|GO:0007049;cell cycle;IEA|GO:0007062;sister chromatid cohesion;TAS|GO:0007064;mitotic sister chromatid cohesion;IEA|GO:0019827;stem cell population maintenance;IEA|GO:0032876;negative regulation of DNA endoreduplication;IMP|GO:0044791;positive regulation by host of viral release from host cell;IDA|GO:0051276;chromosome organization;IEA|GO:0051301;cell division;IEA|GO:0051321;meiotic cell cycle;IEA|GO:0051702;interaction with symbiont;IDA	GO:0000775;chromosome, centromeric region;TAS|GO:0000785;chromatin;IDA|GO:0000800;lateral element;IEA|GO:0000922;spindle pole;IDA|GO:0005604;basement membrane;TAS|GO:0005622;intracellular;IDA|GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005694;chromosome;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0008278;cohesin complex;NAS|GO:0016363;nuclear matrix;IDA|GO:0030893;meiotic cohesin complex;IDA|GO:0034991;nuclear meiotic cohesin complex;IEA	GO:0000166;nucleotide binding;IEA|GO:0003682;chromatin binding;IEA|GO:0003777;microtubule motor activity;NAS|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0032403;protein complex binding;IEA|GO:0036033;mediator complex binding;IEA|GO:0046982;protein heterodimerization activity;IPI|GO:0070840;dynein complex binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/SMC3	https://www.uniprot.org/uniprot/Q9UQE7	https://hpo.jax.org/app/browse/search?q=SMC3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606062	http://www.informatics.jax.org/searchtool/Search.do?query=SMC3&submit=Quick%0D%3674ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SMC3
10_101.305_148.305	Chr10:78740262-120743937	1.191	SMNDC1	ENSG00000119953	survival motor neuron domain containing 1	chr10:112050488-112064709	This gene is a paralog of SMN1 gene, which encodes the survival motor neuron protein, mutations in which are cause of autosomal recessive proximal spinal muscular atrophy. The protein encoded by this gene is a nuclear protein that has been identified as a constituent of the spliceosome complex. This gene is differentially expressed, with abundant levels in skeletal muscle, and may share similar cellular function as the SMN1 gene. [provided by RefSeq, Jul 2008]	Alzheimer's disease 	 	mRNA Splicing - Major Pathway	GO:0000375;RNA splicing, via transesterification reactions;TAS|GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006397;mRNA processing;IEA|GO:0006915;apoptotic process;TAS|GO:0008380;RNA splicing;IEA	GO:0005634;nucleus;TAS|GO:0005654;nucleoplasm;TAS|GO:0005681;spliceosomal complex;IEA|GO:0005737;cytoplasm;IEA|GO:0015030;Cajal body;IEA|GO:0016607;nuclear speck;IEA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SMNDC1	https://www.uniprot.org/uniprot/O75940		https://www.ncbi.nlm.nih.gov/omim/?term=603519	http://www.informatics.jax.org/searchtool/Search.do?query=SMNDC1&submit=Quick%0D%5145ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SMNDC1
22_4.194_23.194	Chr22:17733575-25291782	0.374	SNAP29	ENSG00000099940	synaptosome associated protein 29	chr22:21213271-21245506	This gene, a member of the SNAP25 gene family, encodes a protein involved in multiple membrane trafficking steps. Two other members of this gene family, SNAP23 and SNAP25, encode proteins that bind a syntaxin protein and mediate synaptic vesicle membrane docking and fusion to the plasma membrane. The protein encoded by this gene binds tightly to multiple syntaxins and is localized to intracellular membrane structures rather than to the plasma membrane. While the protein is mostly membrane-bound, a significant fraction of it is found free in the cytoplasm. Use of multiple polyadenylation sites has been noted for this gene. [provided by RefSeq, Jul 2008]	Urogenital Abnormalities; several psychiatric disorders; schizophrenia	Mice homozygous for a knock-out allele exhibit slightly reduced birth body size and a congenital ichtyotic phenotype associated with scaly and tight skin, hyperkeratosis, acanthosis, abnormalities in epidermal differentiation and autophagy, and increased endoplasmic reticulum stress.	Intra-Golgi traffic	GO:0006810;transport;IEA|GO:0006887;exocytosis;TAS|GO:0006903;vesicle targeting;TAS|GO:0006914;autophagy;IEA|GO:0015031;protein transport;IEA|GO:0016082;synaptic vesicle priming;IBA|GO:0016240;autophagosome docking;IDA|GO:0030030;cell projection organization;IEA|GO:0031629;synaptic vesicle fusion to presynaptic active zone membrane;IBA|GO:0043312;neutrophil degranulation;TAS|GO:0060271;cilium assembly;IMP|GO:0061025;membrane fusion;TAS|GO:0097352;autophagosome maturation;IMP	GO:0000139;Golgi membrane;TAS|GO:0000421;autophagosome membrane;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IDA|GO:0005776;autophagosome;IEA|GO:0005794;Golgi apparatus;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;IDA|GO:0005886;plasma membrane;TAS|GO:0005929;cilium;IEA|GO:0016020;membrane;IEA|GO:0020018;ciliary pocket membrane;IDA|GO:0031201;SNARE complex;IDA|GO:0031410;cytoplasmic vesicle;IEA|GO:0035577;azurophil granule membrane;TAS|GO:0042995;cell projection;IEA|GO:0060170;ciliary membrane;IEA|GO:0098793;presynapse;IEA	GO:0005484;SNAP receptor activity;TAS|GO:0005515;protein binding;IPI|GO:0019905;syntaxin binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/SNAP29	https://www.uniprot.org/uniprot/O95721	https://hpo.jax.org/app/browse/search?q=SNAP29&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604202	http://www.informatics.jax.org/searchtool/Search.do?query=SNAP29&submit=Quick%0D%2354ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SNAP29
10_101.305_148.305	Chr10:78740262-120743937	1.191	SNCG	ENSG00000173267	synuclein gamma	chr10:88718375-88723017	This gene encodes a member of the synuclein family of proteins which are believed to be involved in the pathogenesis of neurodegenerative diseases. Mutations in this gene have also been associated with breast tumor development. [provided by RefSeq, Jan 2010]	Parkinson's disease; Alzheimer's disease	Homozygous null mice are viable, fertile, and show no morphological or functional abnormalities of the nervous system.		GO:0007268;chemical synaptic transmission;IEA|GO:0008344;adult locomotory behavior;IEA|GO:0009306;protein secretion;IEA|GO:0014059;regulation of dopamine secretion;IEA|GO:0046928;regulation of neurotransmitter secretion;IEA|GO:0050808;synapse organization;IEA	GO:0005737;cytoplasm;IDA|GO:0005815;microtubule organizing center;IEA|GO:0005819;spindle;IEA|GO:0005856;cytoskeleton;IEA|GO:0030424;axon;IEA|GO:0043025;neuronal cell body;IEA|GO:0048471;perinuclear region of cytoplasm;IEA|GO:0070062;extracellular exosome;IDA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SNCG			https://www.ncbi.nlm.nih.gov/omim/?term=602998	http://www.informatics.jax.org/searchtool/Search.do?query=SNCG&submit=Quick%0D%13327ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SNCG
22_4.194_23.194	Chr22:17733575-25291782	0.374	SNRPD3	ENSG00000100028	small nuclear ribonucleoprotein D3 polypeptide	chr22:24951471-25005947	This gene encodes a core component of the spliceosome, which is a nuclear ribonucleoprotein complex that functions in pre-mRNA splicing. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]		 	SLBP Dependent Processing of Replication-Dependent Histone Pre-mRNAs	GO:0000245;spliceosomal complex assembly;IBA|GO:0000387;spliceosomal snRNP assembly;TAS|GO:0000398;mRNA splicing, via spliceosome;TAS|GO:0006369;termination of RNA polymerase II transcription;TAS|GO:0006396;RNA processing;IEA|GO:0006397;mRNA processing;IEA|GO:0006479;protein methylation;IDA|GO:0008334;histone mRNA metabolic process;TAS|GO:0008380;RNA splicing;TAS|GO:0051170;nuclear import;TAS	GO:0000243;commitment complex;IBA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;TAS|GO:0005681;spliceosomal complex;TAS|GO:0005682;U5 snRNP;IBA|GO:0005683;U7 snRNP;IDA|GO:0005685;U1 snRNP;IDA|GO:0005686;U2 snRNP;IBA|GO:0005687;U4 snRNP;IDA|GO:0005689;U12-type spliceosomal complex;IDA|GO:0005697;telomerase holoenzyme complex;IDA|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0016604;nuclear body;IDA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0030532;small nuclear ribonucleoprotein complex;TAS|GO:0034709;methylosome;IDA|GO:0034715;pICln-Sm protein complex;IDA|GO:0034719;SMN-Sm protein complex;IDA|GO:0070062;extracellular exosome;IDA|GO:0071010;prespliceosome;IBA|GO:0071011;precatalytic spliceosome;IBA|GO:0071013;catalytic step 2 spliceosome;IDA|GO:0097526;spliceosomal tri-snRNP complex;IBA	GO:0003723;RNA binding;IDA|GO:0005515;protein binding;IPI|GO:0019899;enzyme binding;IPI|GO:0030620;U2 snRNA binding;IPI|GO:0070034;telomerase RNA binding;IPI|GO:0071208;histone pre-mRNA DCP binding;IEA|GO:0071209;U7 snRNA binding;IPI|GO:1990446;U1 snRNP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SNRPD3	https://www.uniprot.org/uniprot/P62318		https://www.ncbi.nlm.nih.gov/omim/?term=601062	http://www.informatics.jax.org/searchtool/Search.do?query=SNRPD3&submit=Quick%0D%2380ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SNRPD3
10_101.305_148.305	Chr10:78740262-120743937	1.191	SORBS1	ENSG00000095637	sorbin and SH3 domain containing 1	chr10:97071528-97321171	This gene encodes a CBL-associated protein which functions in the signaling and stimulation of insulin. Mutations in this gene may be associated with human disorders of insulin resistance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]	Platelet Count; diabetes, type 2; plasma HDL cholesterol (HDL-C) levels; Brain Infarction|; Tobacco Use Disorder; hyperandrogenism; precocious puberty; diabetes, type 2; obesity; premature pubarche; Alcoholism; Hypertension; Leukocyte Count; Arteries; obesity; Alzheimer's disease 	Mice homozygous for a null allele exhibit decreased triglyceride levels, altered glucose homeostasis, decreased white blood cells and resistance to developing glucose intolerance induced by a high fat diet.	Smooth Muscle Contraction	GO:0006810;transport;IEA|GO:0006936;muscle contraction;TAS|GO:0007015;actin filament organization;IEA|GO:0007160;cell-matrix adhesion;TAS|GO:0008286;insulin receptor signaling pathway;ISS|GO:0009967;positive regulation of signal transduction;IEA|GO:0015758;glucose transport;ISS|GO:0032869;cellular response to insulin stimulus;ISS|GO:0043149;stress fiber assembly;ISS|GO:0045725;positive regulation of glycogen biosynthetic process;ISS|GO:0046326;positive regulation of glucose import;ISS|GO:0046889;positive regulation of lipid biosynthetic process;ISS|GO:0048041;focal adhesion assembly;ISS|GO:0090004;positive regulation of establishment of protein localization to plasma membrane;ISS	GO:0001725;stress fiber;ISS|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IDA|GO:0005829;cytosol;TAS|GO:0005856;cytoskeleton;IEA|GO:0005886;plasma membrane;IDA|GO:0005899;insulin receptor complex;IDA|GO:0005912;adherens junction;IEA|GO:0005913;cell-cell adherens junction;TAS|GO:0005915;zonula adherens;TAS|GO:0005924;cell-substrate adherens junction;ISS|GO:0005925;focal adhesion;IDA|GO:0016020;membrane;IEA|GO:0016363;nuclear matrix;IEA|GO:0030054;cell junction;IEA|GO:0045121;membrane raft;ISS	GO:0003779;actin binding;TAS|GO:0005070;SH3/SH2 adaptor activity;IC|GO:0005158;insulin receptor binding;IDA|GO:0005515;protein binding;IPI|GO:0008092;cytoskeletal protein binding;TAS	http://www.genecards.org/index.php?path=/Search/keyword/SORBS1	https://www.uniprot.org/uniprot/Q9BX66		https://www.ncbi.nlm.nih.gov/omim/?term=605264	http://www.informatics.jax.org/searchtool/Search.do?query=SORBS1&submit=Quick%0D%2256ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SORBS1
10_101.305_148.305	Chr10:78740262-120743937	1.191	SORCS1	ENSG00000108018	sortilin related VPS10 domain containing receptor 1	chr10:108333421-108924292	This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. Two of the five family members (sortilin and sortilin-related receptor) are synthesized as preproproteins; it is not yet known if this encoded protein is also a preproprotein. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]	Tobacco Use Disorder; Narcolepsy; Sleep; Echocardiography; Alzheimer's disease ; Alzheimer Disease; Cholesterol, HDL; diabetes, type 1 ; Parkinson Disease; Prion Diseases; Type 2 Diabetes| edema | rosiglitazone; smoking cessation; Hemoglobin A, Glycosylated; Blood Pressure Determination; Blood Pressure; atherosclerosis; Arteries; Alzheimer's disease; Lipoproteins; Heart Rate	Female mice homozygous for a null allele have abnormal amyloid beta levels in the brain.	Insulin processing	GO:0007218;neuropeptide signaling pathway;NAS	GO:0016020;membrane;IDA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI|GO:0008188;neuropeptide receptor activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/SORCS1	https://www.uniprot.org/uniprot/Q8WY21		https://www.ncbi.nlm.nih.gov/omim/?term=606283	http://www.informatics.jax.org/searchtool/Search.do?query=SORCS1&submit=Quick%0D%3671ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SORCS1
10_101.305_148.305	Chr10:78740262-120743937	1.191	SORCS3	ENSG00000156395	sortilin related VPS10 domain containing receptor 3	chr10:106400859-107024993	This gene encodes a type-I receptor transmembrane protein that is a member of the vacuolar protein sorting 10 receptor family. Proteins of this family are defined by a vacuolar protein sorting 10 domain at the N-terminus. The N-terminal segment of this domain has a consensus motif for proprotein convertase processing, and the C-terminal segment of this domain is characterized by ten conserved cysteine residues. The vacuolar protein sorting 10 domain is followed by a leucine-rich segment, a transmembrane domain, and a short C-terminal cytoplasmic domain that interacts with adaptor molecules. The transcript is expressed at high levels in the brain, and candidate gene studies suggest that genetic variation in this gene is associated with Alzheimer's disease. Consistent with this observation, knockdown of the gene in cell culture results in an increase in amyloid precursor protein processing. [provided by RefSeq, Dec 2014]	Alzheimer's disease ; Hemoglobins; Coronary Disease; Cell Adhesion Molecules; Metabolism; Hemoglobin A, Glycosylated; Tobacco Use Disorder	Mice homozygous for a knock-out allele exhibit absent NMDA and glutamate receptor-dependent long term depression, impaired spatial learning and memory and impaired fear memory.		GO:0007218;neuropeptide signaling pathway;NAS|GO:0007612;learning;IEA|GO:0007613;memory;IEA|GO:1900452;regulation of long term synaptic depression;IEA	GO:0014069;postsynaptic density;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0008188;neuropeptide receptor activity;NAS	http://www.genecards.org/index.php?path=/Search/keyword/SORCS3	https://www.uniprot.org/uniprot/Q9UPU3		https://www.ncbi.nlm.nih.gov/omim/?term=606285	http://www.informatics.jax.org/searchtool/Search.do?query=SORCS3&submit=Quick%0D%9974ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SORCS3
22_4.194_23.194	Chr22:17733575-25291782	0.374	SPECC1L	ENSG00000100014	sperm antigen with calponin homology and coiled-coil domains 1 like	chr22:24666786-24813708	This gene encodes a coiled-coil domain containing protein. The encoded protein may play a critical role in actin-cytoskeletal reorganization during facial morphogenesis. Mutations in this gene are a cause of oblique facial clefting-1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A read-through transcript composed of SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1-like) and the downstream ADORA2A (adenosine A2a receptor) gene sequence has been identified, but it is thought to be non-coding. [provided by RefSeq, Jun 2013]	FACIAL CLEFTING OBLIQUE 1 (1 patient)	Homozygous knockout affects cranial neural crest cell migration, which causes neural tube closure defects and leads to embryonic lethality.		GO:0007049;cell cycle;IEA|GO:0007155;cell adhesion;IDA|GO:0051301;cell division;IEA	GO:0005737;cytoplasm;IEA|GO:0005819;spindle;IEA|GO:0005829;cytosol;IDA|GO:0005856;cytoskeleton;IEA|GO:0005921;gap junction;IEA|GO:0015629;actin cytoskeleton;IDA|GO:0030054;cell junction;IEA		http://www.genecards.org/index.php?path=/Search/keyword/SPECC1L	https://www.uniprot.org/uniprot/Q69YQ0	https://hpo.jax.org/app/browse/search?q=SPECC1L&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=614140	http://www.informatics.jax.org/searchtool/Search.do?query=SPECC1L&submit=Quick%0D%2376ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPECC1L
22_4.194_23.194	Chr22:17733575-25291782	0.374	SPECC1L-ADORA2A	ENSG00000258555	SPECC1L-ADORA2A readthrough (NMD candidate)	chr22:24666866-24838324	This locus represents naturally occurring readthrough transcription between the neighboring SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1-like) and ADORA2A (adenosine A2a receptor) genes on chromosome 22. The readthrough transcript is a candidate for nonsense-mediated mRNA decay (NMD) and is unlikely to produce a protein product. [provided by RefSeq, Jun 2013]							http://www.genecards.org/index.php?path=/Search/keyword/SPECC1L-ADORA2A				http://www.informatics.jax.org/searchtool/Search.do?query=SPECC1L-ADORA2A&submit=Quick%0D%20284ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SPECC1L-ADORA2A
10_101.305_148.305	Chr10:78740262-120743937	1.191	STAMBPL1	ENSG00000138134	STAM binding protein like 1	chr10:90639491-90734910		Blood Flow Velocity; Heart Rate; Heart Failure; Alzheimer's disease ; Intercellular Adhesion Molecule-1; Blood Cells	 	Metalloprotease DUBs	GO:0006508;proteolysis;IEA|GO:0016579;protein deubiquitination;TAS|GO:0070536;protein K63-linked deubiquitination;IEA	GO:0005829;cytosol;TAS|GO:0016020;membrane;IDA	GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA|GO:0061578;Lys63-specific deubiquitinase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/STAMBPL1	https://www.uniprot.org/uniprot/Q96FJ0		https://www.ncbi.nlm.nih.gov/omim/?term=612352	http://www.informatics.jax.org/searchtool/Search.do?query=STAMBPL1&submit=Quick%0D%7681ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=STAMBPL1
10_101.305_148.305	Chr10:78740262-120743937	1.191	SUFU	ENSG00000107882	SUFU negative regulator of hedgehog signaling	chr10:104263744-104393292	The Hedgehog signaling pathway plays an important role in early human development. The pathway is a signaling cascade that plays a role in pattern formation and cellular proliferation during development. This gene encodes a negative regulator of the hedgehog signaling pathway. Defects in this gene are a cause of medulloblastoma. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]	Alzheimer's disease ; Head and Neck Neoplasms|Neoplasm Recurrence, Local|Neoplasms, Second Primary	Targeted disruption results in mid-gestation lethality, embryonic growth retardation, incomplete embryo turning, open neural tube, abnormal somite development, left-right asymmetry defects resulting in cardiac looping, and hemorrhage in the diencephalon.	Hedgehog 'on' state	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001501;skeletal system development;TAS|GO:0001843;neural tube closure;IEA|GO:0001947;heart looping;IEA|GO:0003281;ventricular septum development;IEA|GO:0006355;regulation of transcription, DNA-templated;TAS|GO:0006508;proteolysis;TAS|GO:0007165;signal transduction;TAS|GO:0007275;multicellular organism development;TAS|GO:0007368;determination of left/right symmetry;IEA|GO:0021513;spinal cord dorsal/ventral patterning;IEA|GO:0021775;smoothened signaling pathway involved in ventral spinal cord interneuron specification;IEA|GO:0021776;smoothened signaling pathway involved in spinal cord motor neuron cell fate specification;IEA|GO:0035904;aorta development;IEA|GO:0042992;negative regulation of transcription factor import into nucleus;TAS|GO:0042994;cytoplasmic sequestering of transcription factor;IEA|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;TAS|GO:0043588;skin development;IEA|GO:0045668;negative regulation of osteoblast differentiation;TAS|GO:0045879;negative regulation of smoothened signaling pathway;TAS|GO:0060976;coronary vasculature development;IEA|GO:1901621;negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning;IEA|GO:2000059;negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process;IEA	GO:0005634;nucleus;IEA|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0005929;cilium;IEA|GO:0097542;ciliary tip;TAS|GO:0097546;ciliary base;TAS	GO:0003714;transcription corepressor activity;TAS|GO:0004871;signal transducer activity;TAS|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IEA|GO:0008134;transcription factor binding;IDA|GO:0019901;protein kinase binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/SUFU	https://www.uniprot.org/uniprot/Q9UMX1	https://hpo.jax.org/app/browse/search?q=SUFU&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607035	http://www.informatics.jax.org/searchtool/Search.do?query=SUFU&submit=Quick%0D%3654ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SUFU
22_4.194_23.194	Chr22:17733575-25291782	0.374	SUSD2	ENSG00000099994	sushi domain containing 2	chr22:24577227-24585078			 		GO:0006898;receptor-mediated endocytosis;IEA|GO:0006955;immune response;IEA|GO:0051782;negative regulation of cell division;IDA|GO:1902807;negative regulation of cell cycle G1/S phase transition;IDA	GO:0005886;plasma membrane;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0070062;extracellular exosome;IDA	GO:0005044;scavenger receptor activity;IEA|GO:0005515;protein binding;IPI|GO:0030247;polysaccharide binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/SUSD2	https://www.uniprot.org/uniprot/Q9UGT4		https://www.ncbi.nlm.nih.gov/omim/?term=615825	http://www.informatics.jax.org/searchtool/Search.do?query=SUSD2&submit=Quick%0D%2370ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=SUSD2
10_101.305_148.305	Chr10:78740262-120743937	1.191	TAF5	ENSG00000148835	TATA-box binding protein associated factor 5	chr10:105127724-105148822	Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes an integral subunit of TFIID associated with all transcriptionally competent forms of that complex. This subunit interacts strongly with two TFIID subunits that show similarity to histones H3 and H4, and it may participate in forming a nucleosome-like core in the TFIID complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]		 	RNA Polymerase II Transcription Initiation And Promoter Clearance	GO:0006325;chromatin organization;IC|GO:0006351;transcription, DNA-templated;IEA|GO:0006352;DNA-templated transcription, initiation;IDA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;TAS|GO:0006367;transcription initiation from RNA polymerase II promoter;TAS|GO:0006368;transcription elongation from RNA polymerase II promoter;TAS|GO:0016032;viral process;IEA|GO:0016573;histone acetylation;IEA|GO:0042795;snRNA transcription from RNA polymerase II promoter;TAS|GO:1901796;regulation of signal transduction by p53 class mediator;TAS	GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005669;transcription factor TFIID complex;IDA|GO:0015629;actin cytoskeleton;IDA|GO:0033276;transcription factor TFTC complex;IDA	GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0004402;histone acetyltransferase activity;IDA|GO:0005515;protein binding;IPI|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0046983;protein dimerization activity;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TAF5	https://www.uniprot.org/uniprot/Q15542		https://www.ncbi.nlm.nih.gov/omim/?term=601787	http://www.informatics.jax.org/searchtool/Search.do?query=TAF5&submit=Quick%0D%9166ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TAF5
22_4.194_23.194	Chr22:17733575-25291782	0.374	TANGO2	ENSG00000183597	transport and golgi organization 2 homolog	chr22:20004537-20053449	This gene belongs to the transport and Golgi organization family, whose members are predicted to play roles in secretory protein loading in the endoplasmic reticulum. Depletion of this gene in Drosophila S2 cells causes fusion of the Golgi with the ER. In mouse tissue culture cells, this protein co-localizes with a mitochondrially targeted mCherry protein and displays very low levels of co-localization with Golgi and peroxisomes. Allelic variants of this gene are associated with rhabdomyolysis, metabolic crises with encephalopathy, and cardiac arrhythmia. [provided by RefSeq, Apr 2016]	Stroke	 			GO:0005794;Golgi apparatus;IDA		http://www.genecards.org/index.php?path=/Search/keyword/TANGO2		https://hpo.jax.org/app/browse/search?q=TANGO2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=616830	http://www.informatics.jax.org/searchtool/Search.do?query=TANGO2&submit=Quick%0D%15019ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TANGO2
10_101.305_148.305	Chr10:78740262-120743937	1.191	TBC1D12	ENSG00000108239	TBC1 domain family member 12	chr10:96162261-96295687			 		GO:0006886;intracellular protein transport;IBA|GO:0031338;regulation of vesicle fusion;IBA|GO:0090630;activation of GTPase activity;IBA|GO:2000785;regulation of autophagosome assembly;IBA	GO:0005776;autophagosome;IBA|GO:0055037;recycling endosome;IBA	GO:0005096;GTPase activator activity;IEA|GO:0017137;Rab GTPase binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/TBC1D12	https://www.uniprot.org/uniprot/O60347			http://www.informatics.jax.org/searchtool/Search.do?query=TBC1D12&submit=Quick%0D%3688ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TBC1D12
22_4.194_23.194	Chr22:17733575-25291782	0.374	TBX1	ENSG00000184058	T-box 1	chr22:19744226-19771116	This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product shares 98% amino acid sequence identity with the mouse ortholog. DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), a common congenital disorder characterized by neural-crest-related developmental defects, has been associated with deletions of chromosome 22q11.2, where this gene has been mapped. Studies using mouse models of DiGeorge syndrome suggest a major role for this gene in the molecular etiology of DGS/VCFS. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]	patent ductus arteriosus; congenital heart defects; heart anomalies, congenital; Chromosome Deletion; Cleft Lip|Cleft Palate; tetralogy of Fallot; null; Marijuana Abuse|Psychoses, Substance-Induced; Erythrocyte Count; Schizophrenia; DiGeorge syndrome	Homozygous null mice display neonatal lethality, persistent truncus arteriosis, abnormal aortic arch, abnormal inner, middle, and outer ear morphology, abnormal lymphangiogenesis, and abnormal cranial base morphology. Heterozygous null mice display abnormal fourth aortic arch arteries.		GO:0001525;angiogenesis;ISS|GO:0001568;blood vessel development;ISS|GO:0001708;cell fate specification;ISS|GO:0001755;neural crest cell migration;ISS|GO:0001934;positive regulation of protein phosphorylation;ISS|GO:0001945;lymph vessel development;ISS|GO:0002053;positive regulation of mesenchymal cell proliferation;ISS|GO:0003007;heart morphogenesis;ISS|GO:0003148;outflow tract septum morphogenesis;ISS|GO:0003151;outflow tract morphogenesis;ISS|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;ISS|GO:0007275;multicellular organism development;IEA|GO:0007368;determination of left/right symmetry;ISS|GO:0007389;pattern specification process;ISS|GO:0007498;mesoderm development;ISS|GO:0007507;heart development;IMP|GO:0007517;muscle organ development;ISS|GO:0007605;sensory perception of sound;ISS|GO:0008283;cell proliferation;ISS|GO:0008284;positive regulation of cell proliferation;ISS|GO:0009952;anterior/posterior pattern specification;ISS|GO:0021644;vagus nerve morphogenesis;ISS|GO:0030855;epithelial cell differentiation;ISS|GO:0030878;thyroid gland development;ISS|GO:0035176;social behavior;ISS|GO:0035909;aorta morphogenesis;ISS|GO:0042471;ear morphogenesis;ISS|GO:0042472;inner ear morphogenesis;ISS|GO:0042473;outer ear morphogenesis;ISS|GO:0042474;middle ear morphogenesis;ISS|GO:0042475;odontogenesis of dentin-containing tooth;ISS|GO:0042693;muscle cell fate commitment;ISS|GO:0043410;positive regulation of MAPK cascade;ISS|GO:0043587;tongue morphogenesis;ISS|GO:0044344;cellular response to fibroblast growth factor stimulus;ISS|GO:0045596;negative regulation of cell differentiation;ISS|GO:0045893;positive regulation of transcription, DNA-templated;ISS|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;ISS|GO:0048384;retinoic acid receptor signaling pathway;ISS|GO:0048514;blood vessel morphogenesis;ISS|GO:0048538;thymus development;IMP|GO:0048644;muscle organ morphogenesis;ISS|GO:0048701;embryonic cranial skeleton morphogenesis;ISS|GO:0048703;embryonic viscerocranium morphogenesis;IMP|GO:0048752;semicircular canal morphogenesis;ISS|GO:0048844;artery morphogenesis;ISS|GO:0050679;positive regulation of epithelial cell proliferation;ISS|GO:0060017;parathyroid gland development;IMP|GO:0060023;soft palate development;IMP|GO:0060037;pharyngeal system development;IMP|GO:0060325;face morphogenesis;ISS|GO:0060415;muscle tissue morphogenesis;ISS|GO:0060982;coronary artery morphogenesis;ISS|GO:0070166;enamel mineralization;ISS|GO:0071300;cellular response to retinoic acid;ISS|GO:0090103;cochlea morphogenesis;ISS|GO:0097152;mesenchymal cell apoptotic process;ISS|GO:2000027;regulation of organ morphogenesis;ISS|GO:2001037;positive regulation of tongue muscle cell differentiation;ISS|GO:2001054;negative regulation of mesenchymal cell apoptotic process;ISS	GO:0005634;nucleus;IEA	GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0042803;protein homodimerization activity;IDA|GO:0043565;sequence-specific DNA binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/TBX1		https://hpo.jax.org/app/browse/search?q=TBX1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=602054	http://www.informatics.jax.org/searchtool/Search.do?query=TBX1&submit=Quick%0D%15129ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TBX1
10_101.305_148.305	Chr10:78740262-120743937	1.191	TCF7L2	ENSG00000148737	transcription factor 7 like 2	chr10:114710009-114927437	This gene encodes a high mobility group (HMG) box-containing transcription factor that plays a key role in the Wnt signaling pathway. The protein has been implicated in blood glucose homeostasis. Genetic variants of this gene are associated with increased risk of type 2 diabetes. Several transcript variants encoding multiple different isoforms have been found for this gene.[provided by RefSeq, Oct 2010]	Type 2 diabetes; diabetes, gestational; fasting glucose-related traits ; Diabetes mellitus type II|Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2; clinicopathological characteristics of hepatocellular carcinoma; normal variation; Coronary Disease; atherosclerosis; latent autoimmune diabetes; Calcinosis|Diabetes Mellitus, Type 2|Pancreatitis, Chronic; Type 2 Diabetes| edema | rosiglitazone; diabetes, type 2; Diabetes Mellitus, Type 2|Polycystic Ovary Syndrome; Hyperlipidemias; Diabetes Mellitus, Type 2|Insulin Resistance; Diabetes Mellitus|Diabetes Mellitus, Type 2|Insulin Resistance|Metabolic Syndrome X; Diabetes Mellitus; Hypercholesterolemia|LDLC levels; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Hyperglycemia|Insulin Resistance; Kidney Diseases; Diabetes Mellitus, Insulin-Dependent|Diabetes Mellitus, Type 1; Autoimmune Diseases|Diabetes Mellitus; Diabetes mellitus type II|Diabetes Mellitus, Type 2; Hemoglobin A, Glycosylated; diabetes, type 2 | diabetes, type 1; Diabetes Mellitus, Type 2|Fetal Diseases|Malnutrition|Starvation; Atherosclerosis|Cardiovascular Diseases|Coronary Disease|Diabetic Angiopathies; glucose homeostasis; Hypertension|Metabolic Syndrome X|Obesity; Calcinosis|Coronary Artery Disease|Diabetes mellitus; Tobacco Use Disorder; Body Weight|Puberty, Precocious|Thinness; Insulin Resistance; Diabetes Mellitus, Type 2|Obesity; Type 2 diabetes|reduced prostate cancer risk; Alzheimer's disease ; Crohn Disease|; birth weight glucose small for gestational age; Diabetes Mellitus, Type 2; body mass insulin; schizophrenia; Neoplasms; null; Diabetes Mellitus|Hypertension|Insulin Resistance; body mass cholesterol, HDL diabetes, type 2 glucose insulin metabolic syndrome triglycerides; Colonic Neoplasms; colorectal cancer; obesity; Diabetes Mellitus, Type 2|; Diabetes Mellitus|; two-hour glucose challenge ; Insulin Resistance|Overweight|Weight Loss; Diabetes mellitus|HIV Infections|[X]Human immunodeficiency virus disease; prostate cancer; polycystic ovary syndrome; Blood Pressure Determination; Diabetes Mellitus|Diabetes Mellitus, Type 2|; Birth Weight|Hyperglycemia|Pregnancy Complications|Pregnancy in Diabetics; breast cancer; diabetes, type 2 glucose insulin; insulin; ovarian cancer ; Obesity; metabolic syndrome; Insulin Resistance|Precursor Cell Lymphoblastic Leukemia-Lymphoma; Hyperglycemia; coronary artery disease; Body Weight|Diabetes, Gestational|Gestational diabetes mellitus ; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Insulin Resistance; Posttransplantation diabetes mellitus (PTDM); Colonic Neoplasms|Microsatellite Instability; Body Weight|Diabetes mellitus|Postoperative Complications; Diabetes Mellitus|Fatty Liver; Glucose Tolerance Test; Fatty Liver; type 2 diabetes; Diabetes mellitus type II|Diabetes Mellitus, Type 2|Glucose Metabolism Disorders; Atherosclerosis|Hypertension|Macular Degeneration|Prostatic Neoplasms; Glucose Intolerance; type 2 diabetes and other traits; obesity|BMI	Animals homozygous for a targeted mutation exhibit intestinal epithelia abnormalities and die shortly after birth. Mice heterozygous for some mutations display abnormalities in glucose homeostasis.	RUNX3 regulates WNT signaling	GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IDA|GO:0001568;blood vessel development;IMP|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IDA|GO:0007050;cell cycle arrest;IMP|GO:0007223;Wnt signaling pathway, calcium modulating pathway;TAS|GO:0008283;cell proliferation;IMP|GO:0009749;response to glucose;ISS|GO:0010909;positive regulation of heparan sulfate proteoglycan biosynthetic process;IMP|GO:0016055;Wnt signaling pathway;IEA|GO:0031016;pancreas development;TAS|GO:0032024;positive regulation of insulin secretion;IDA|GO:0032092;positive regulation of protein binding;IDA|GO:0032350;regulation of hormone metabolic process;IDA|GO:0042593;glucose homeostasis;IDA|GO:0043433;negative regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0043570;maintenance of DNA repeat elements;IMP|GO:0044334;canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition;IMP|GO:0045444;fat cell differentiation;IDA|GO:0045892;negative regulation of transcription, DNA-templated;IMP|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0046827;positive regulation of protein export from nucleus;IMP|GO:0048625;myoblast fate commitment;IDA|GO:0048660;regulation of smooth muscle cell proliferation;IMP|GO:0051897;positive regulation of protein kinase B signaling;IMP|GO:0060070;canonical Wnt signaling pathway;IC|GO:0090090;negative regulation of canonical Wnt signaling pathway;IMP|GO:1904837;beta-catenin-TCF complex assembly;TAS|GO:2000675;negative regulation of type B pancreatic cell apoptotic process;IDA|GO:2001237;negative regulation of extrinsic apoptotic signaling pathway;IDA	GO:0000790;nuclear chromatin;IDA|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0016605;PML body;IEA|GO:0032993;protein-DNA complex;IDA|GO:0070369;beta-catenin-TCF7L2 complex;IDA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IDA|GO:0001103;RNA polymerase II repressing transcription factor binding;IPI|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IDA|GO:0005515;protein binding;IPI|GO:0008013;beta-catenin binding;IDA|GO:0008134;transcription factor binding;IPI|GO:0019901;protein kinase binding;IPI|GO:0035257;nuclear hormone receptor binding;IPI|GO:0043565;sequence-specific DNA binding;IMP|GO:0044212;transcription regulatory region DNA binding;IDA|GO:0045295;gamma-catenin binding;IPI|GO:0070016;armadillo repeat domain binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TCF7L2	https://www.uniprot.org/uniprot/Q9NQB0		https://www.ncbi.nlm.nih.gov/omim/?term=602228	http://www.informatics.jax.org/searchtool/Search.do?query=TCF7L2&submit=Quick%0D%9156ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TCF7L2
10_101.305_148.305	Chr10:78740262-120743937	1.191	TCTN3	ENSG00000119977	tectonic family member 3	chr10:97423158-97453900	This gene encodes a member of the tectonic gene family which functions in Hedgehog signal transduction and development of the neural tube. Mutations in this gene have been associated with Orofaciodigital Syndrome IV and Joubert Syndrom 18. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2012]	Coronary Artery Disease; Alzheimer's disease 	Homozygous nulls die between E14.5 and E16.5, show holoprosencephaly, polydactyly, randomized heart looping, absent floor plate, and reduced cilia number.	Anchoring of the basal body to the plasma membrane	GO:0006915;apoptotic process;IEA|GO:0007224;smoothened signaling pathway;IMP|GO:0030030;cell projection organization;IEA|GO:0060271;cilium assembly;ISS|GO:0097711;ciliary basal body docking;TAS	GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0060170;ciliary membrane;TAS|GO:0070062;extracellular exosome;IDA		http://www.genecards.org/index.php?path=/Search/keyword/TCTN3	https://www.uniprot.org/uniprot/Q6NUS6	https://hpo.jax.org/app/browse/search?q=TCTN3&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=613847	http://www.informatics.jax.org/searchtool/Search.do?query=TCTN3&submit=Quick%0D%5149ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TCTN3
10_101.305_148.305	Chr10:78740262-120743937	1.191	TDRD1	ENSG00000095627	tudor domain containing 1	chr10:115939029-115992063	This gene is similar to a mouse gene that encodes a tudor domain protein. Alternatively spliced transcript variants have been described but their full length sequences have not been determined. [provided by RefSeq, Jul 2008]	Alzheimer's disease 	Male homozygous mice are sterile, displaying postnatal spermatogenic defects. Females are fertile.	PIWI-interacting RNA (piRNA) biogenesis	GO:0007275;multicellular organism development;IEA|GO:0007281;germ cell development;ISS|GO:0007283;spermatogenesis;IEA|GO:0030154;cell differentiation;IEA|GO:0031047;gene silencing by RNA;IEA|GO:0034587;piRNA metabolic process;ISS|GO:0043046;DNA methylation involved in gamete generation;ISS|GO:0051321;meiotic cell cycle;IEA	GO:0005737;cytoplasm;IEA|GO:0030529;intracellular ribonucleoprotein complex;IEA|GO:0033391;chromatoid body;IEA|GO:0043186;P granule;ISS|GO:0071546;pi-body;ISS	GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TDRD1	https://www.uniprot.org/uniprot/Q9BXT4		https://www.ncbi.nlm.nih.gov/omim/?term=605796	http://www.informatics.jax.org/searchtool/Search.do?query=TDRD1&submit=Quick%0D%2255ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TDRD1
10_101.305_148.305	Chr10:78740262-120743937	1.191	TECTB	ENSG00000119913	tectorin beta	chr10:114043493-114064793	This gene encodes a non-collagenous glycoprotein component of the tectorial membrane, which covers the auditory hair cells in the cochlea of the inner ear. A similar protein in mouse functions in low-frequency hearing. [provided by RefSeq, Jul 2013]	Alzheimer's disease ; Tobacco Use Disorder	Homozygotes for a null allele show an enlarged tectorial membrane with a disrupted striated-sheet matrix, absence of the marginal band, and low-frequency hearing loss. However, basilar-membrane and neural tuning are both enhanced in high-frequency cochlear regions, with little loss in sensitivity.	Post-translational modification: synthesis of GPI-anchored proteins	GO:0006501;C-terminal protein lipidation;TAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005886;plasma membrane;TAS|GO:0016020;membrane;IEA|GO:0031225;anchored component of membrane;IEA	GO:0005201;extracellular matrix structural constituent;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TECTB	https://www.uniprot.org/uniprot/Q96PL2		https://www.ncbi.nlm.nih.gov/omim/?term=602653	http://www.informatics.jax.org/searchtool/Search.do?query=TECTB&submit=Quick%0D%5134ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TECTB
22_4.194_23.194	Chr22:17733575-25291782	0.374	THAP7	ENSG00000184436	THAP domain containing 7	chr22:21353393-21356485			 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0045892;negative regulation of transcription, DNA-templated;IDA	GO:0005634;nucleus;IDA|GO:0005694;chromosome;IEA|GO:0016607;nuclear speck;IDA|GO:0031965;nuclear membrane;IDA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IPI|GO:0046872;metal ion binding;IEA|GO:0047485;protein N-terminus binding;IPI|GO:0070742;C2H2 zinc finger domain binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/THAP7			https://www.ncbi.nlm.nih.gov/omim/?term=609518	http://www.informatics.jax.org/searchtool/Search.do?query=THAP7&submit=Quick%0D%15207ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=THAP7
10_101.305_148.305	Chr10:78740262-120743937	1.191	TLL2	ENSG00000095587	tolloid like 2	chr10:98124363-98273675	This gene encodes an astacin-like zinc-dependent metalloprotease and is a subfamily member of the metzincin family. Unlike other family members, a similar protein in mice does not cleave procollagen C-propeptides or chordin. [provided by RefSeq, Jul 2008]	Alzheimer's disease ; Attention Deficit Disorder with Hyperactivity; ADHD | attention-deficit hyperactivity disorder	Homozygous mutation of this gene results in increased muscle weight.	Crosslinking of collagen fibrils	GO:0006508;proteolysis;IEA|GO:0007275;multicellular organism development;IEA|GO:0022617;extracellular matrix disassembly;TAS|GO:0030154;cell differentiation;IEA|GO:0048632;negative regulation of skeletal muscle tissue growth;IEA	GO:0005576;extracellular region;TAS	GO:0004222;metalloendopeptidase activity;IEA|GO:0004252;serine-type endopeptidase activity;TAS|GO:0005509;calcium ion binding;IEA|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0008270;zinc ion binding;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TLL2	https://www.uniprot.org/uniprot/Q9Y6L7		https://www.ncbi.nlm.nih.gov/omim/?term=606743	http://www.informatics.jax.org/searchtool/Search.do?query=TLL2&submit=Quick%0D%2253ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TLL2
10_101.305_148.305	Chr10:78740262-120743937	1.191	TLX1	ENSG00000107807	T-cell leukemia homeobox 1	chr10:102889257-102897545	This gene encodes a nuclear transcription factor that belongs to the NK-linked or NK-like (NKL) subfamily of homeobox genes. The encoded protein is required for normal development of the spleen during embryogenesis. This protein is also involved in specification of neuronal cell fates. Ectopic expression of this gene due to chromosomal translocations is associated with certain T-cell acute lymphoblastic leukemias. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010]	Precursor T-cell acute lymphoblastic leukemia	Homozygous mutant embryos show cellular disorganization at the site of splenic development and never develop a spleen.		GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006366;transcription from RNA polymerase II promoter;IEA|GO:0007275;multicellular organism development;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IEA	GO:0005634;nucleus;IEA	GO:0000978;RNA polymerase II core promoter proximal region sequence-specific DNA binding;IEA|GO:0001077;transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0043565;sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TLX1	https://www.uniprot.org/uniprot/P31314		https://www.ncbi.nlm.nih.gov/omim/?term=186770	http://www.informatics.jax.org/searchtool/Search.do?query=TLX1&submit=Quick%0D%3639ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TLX1
10_101.305_148.305	Chr10:78740262-120743937	1.191	TM9SF3	ENSG00000077147	transmembrane 9 superfamily member 3	chr10:98277866-98347209		Inflammation; Alzheimer's disease ; Hemoglobins	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IBA		http://www.genecards.org/index.php?path=/Search/keyword/TM9SF3	https://www.uniprot.org/uniprot/Q9HD45		https://www.ncbi.nlm.nih.gov/omim/?term=616872	http://www.informatics.jax.org/searchtool/Search.do?query=TM9SF3&submit=Quick%0D%1608ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TM9SF3
22_4.194_23.194	Chr22:17733575-25291782	0.374	TMEM191C	ENSG00000206140	transmembrane protein 191C	chr22:21820712-21825558						GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TMEM191C				http://www.informatics.jax.org/searchtool/Search.do?query=TMEM191C&submit=Quick%0D%17610ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM191C
10_101.305_148.305	Chr10:78740262-120743937	1.191	TMEM254	ENSG00000133678	transmembrane protein 254	chr10:81838402-81852313		Alzheimer's disease 	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA		http://www.genecards.org/index.php?path=/Search/keyword/TMEM254	https://www.uniprot.org/uniprot/Q8TBM7			http://www.informatics.jax.org/searchtool/Search.do?query=TMEM254&submit=Quick%0D%6858ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TMEM254
10_101.305_148.305	Chr10:78740262-120743937	1.191	TNKS2	ENSG00000107854	tankyrase 2	chr10:93558069-93625033		Endometrial Neoplasms; Cardiovascular Diseases|Cerebrovascular Disorders; breast cancer ; Alzheimer's disease 	Mice homozygous for a null allele are viable but display decreased body weight and abnormal adipocyte glucose uptake in response to insulin stimulation. Mice homozygous for a different null allele show partial postnatal lethality as well as decreased body weight.	Regulation of PTEN stability and activity	GO:0000209;protein polyubiquitination;IDA|GO:0006471;protein ADP-ribosylation;IDA|GO:0016055;Wnt signaling pathway;TAS|GO:0016579;protein deubiquitination;TAS|GO:0032212;positive regulation of telomere maintenance via telomerase;IC|GO:0035264;multicellular organism growth;IEA|GO:0040014;regulation of multicellular organism growth;IEA|GO:0070198;protein localization to chromosome, telomeric region;IMP|GO:0070213;protein auto-ADP-ribosylation;IDA|GO:0090263;positive regulation of canonical Wnt signaling pathway;TAS|GO:1904355;positive regulation of telomere capping;IDA|GO:1904357;negative regulation of telomere maintenance via telomere lengthening;IMP	GO:0000139;Golgi membrane;IEA|GO:0000242;pericentriolar material;IDA|GO:0000781;chromosome, telomeric region;IEA|GO:0000784;nuclear chromosome, telomeric region;IC|GO:0005634;nucleus;IDA|GO:0005635;nuclear envelope;IDA|GO:0005694;chromosome;IEA|GO:0005737;cytoplasm;IDA|GO:0005794;Golgi apparatus;IEA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0048471;perinuclear region of cytoplasm;IDA	GO:0003950;NAD+ ADP-ribosyltransferase activity;TAS|GO:0005515;protein binding;IPI|GO:0016740;transferase activity;IEA|GO:0016757;transferase activity, transferring glycosyl groups;IEA|GO:0019899;enzyme binding;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TNKS2	https://www.uniprot.org/uniprot/Q9H2K2		https://www.ncbi.nlm.nih.gov/omim/?term=607128	http://www.informatics.jax.org/searchtool/Search.do?query=TNKS2&submit=Quick%0D%3647ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TNKS2
22_4.194_23.194	Chr22:17733575-25291782	0.374	TOP3B	ENSG00000100038	topoisomerase (DNA) III beta	chr22:22311397-22337213	This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus relaxing the supercoils and altering the topology of DNA. The enzyme interacts with DNA helicase SGS1 and plays a role in DNA recombination, cellular aging and maintenance of genome stability. Low expression of this gene may be related to higher survival rates in breast cancer patients. This gene has a pseudogene on chromosome 22. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Aug 2013]	Myocardial Infarction	Homozygous null mice develop to maturity but die prematurely showing enlargement of lymphatic organs and glomerulonephritis. Intercrossing of mutant mice progressively results in infertility that is correlated to increased aneuploidy in germ cells.		GO:0006265;DNA topological change;IEA|GO:0007059;chromosome segregation;IEA	GO:0000793;condensed chromosome;IEA|GO:0005634;nucleus;TAS	GO:0003677;DNA binding;TAS|GO:0003723;RNA binding;IDA|GO:0003916;DNA topoisomerase activity;TAS|GO:0003917;DNA topoisomerase type I activity;IEA|GO:0005515;protein binding;IPI|GO:0016853;isomerase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TOP3B	https://www.uniprot.org/uniprot/O95985		https://www.ncbi.nlm.nih.gov/omim/?term=603582	http://www.informatics.jax.org/searchtool/Search.do?query=TOP3B&submit=Quick%0D%2387ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TOP3B
2_252.744_266.744	Chr2:235528138-241561721	0.223	TRAF3IP1	ENSG00000204104	TRAF3 interacting protein 1	chr2:239229082-239309541		Tobacco Use Disorder; schizophrenia; Iris; Hearing Loss	Mice homozygous for a gene trap allele exhibit embryonic lethality, cardiac edema, abnormal neural development, polydactyly, and microphthalmia associated with a lack of embryonic lethality.	Intraflagellar transport	GO:0001738;morphogenesis of a polarized epithelium;IDA|GO:0001822;kidney development;IMP|GO:0001933;negative regulation of protein phosphorylation;IMP|GO:0021532;neural tube patterning;IEA|GO:0030030;cell projection organization;IEA|GO:0031076;embryonic camera-type eye development;IEA|GO:0031333;negative regulation of protein complex assembly;IMP|GO:0032480;negative regulation of type I interferon production;IMP|GO:0032688;negative regulation of interferon-beta production;IEA|GO:0035050;embryonic heart tube development;IEA|GO:0035735;intraciliary transport involved in cilium assembly;TAS|GO:0036342;post-anal tail morphogenesis;IEA|GO:0042073;intraciliary transport;IBA|GO:0042733;embryonic digit morphogenesis;IEA|GO:0050687;negative regulation of defense response to virus;IMP|GO:0060271;cilium assembly;IEA|GO:0070507;regulation of microtubule cytoskeleton organization;IMP|GO:1901621;negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning;IEA	GO:0005737;cytoplasm;IEA|GO:0005813;centrosome;IEA|GO:0005856;cytoskeleton;IEA|GO:0005929;cilium;TAS|GO:0005930;axoneme;IEA|GO:0030992;intraciliary transport particle B;IEA|GO:0035869;ciliary transition zone;IDA|GO:0036064;ciliary basal body;IEA|GO:0042995;cell projection;IEA|GO:0097542;ciliary tip;TAS|GO:0097546;ciliary base;IDA	GO:0005515;protein binding;IPI|GO:0008017;microtubule binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TRAF3IP1		https://hpo.jax.org/app/browse/search?q=TRAF3IP1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607380	http://www.informatics.jax.org/searchtool/Search.do?query=TRAF3IP1&submit=Quick%0D%17200ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRAF3IP1
10_101.305_148.305	Chr10:78740262-120743937	1.191	TRIM8	ENSG00000171206	tripartite motif containing 8	chr10:104404253-104418164	This gene encodes a member of the tripartite motif (TRIM) protein family. Based on similarities to other proteins, the encoded protein is suspected to be an E3 ubiquitin-protein ligase. Regulation of this gene may be altered in some cancers. Mutations resulting in a truncated protein product have been observed in early-onset epileptic encephalopathy (EOEE). [provided by RefSeq, Sep 2016]	Alzheimer's disease ; Stroke	 	Interferon gamma signaling	GO:0010508;positive regulation of autophagy;IMP|GO:0016567;protein ubiquitination;IEA|GO:0019827;stem cell population maintenance;IEA|GO:0032897;negative regulation of viral transcription;IEA|GO:0043123;positive regulation of I-kappaB kinase/NF-kappaB signaling;IDA|GO:0045087;innate immune response;IDA|GO:0046597;negative regulation of viral entry into host cell;IEA|GO:0051091;positive regulation of sequence-specific DNA binding transcription factor activity;IDA|GO:0051092;positive regulation of NF-kappaB transcription factor activity;IDA|GO:0060333;interferon-gamma-mediated signaling pathway;TAS|GO:1900182;positive regulation of protein localization to nucleus;IEA|GO:1902187;negative regulation of viral release from host cell;IDA	GO:0005634;nucleus;IEA|GO:0005829;cytosol;TAS|GO:0016605;PML body;IDA	GO:0005515;protein binding;IPI|GO:0008270;zinc ion binding;NAS|GO:0016740;transferase activity;IEA|GO:0042802;identical protein binding;IPI|GO:0042803;protein homodimerization activity;IPI|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TRIM8			https://www.ncbi.nlm.nih.gov/omim/?term=606125	http://www.informatics.jax.org/searchtool/Search.do?query=TRIM8&submit=Quick%0D%12877ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRIM8
22_4.194_23.194	Chr22:17733575-25291782	0.374	TRMT2A	ENSG00000099899	tRNA methyltransferase 2 homolog A	chr22:20099389-20104915	The protein encoded by this gene is of unknown function. However, it is orthologous to the mouse Trmt2a gene and contains an RNA methyltransferase domain. Expression of this gene varies during the cell cycle, with aberrant expression being a possible biomarker in certain breast cancers. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]		 		GO:0001510;RNA methylation;IEA|GO:0006396;RNA processing;IEA|GO:0032259;methylation;IEA		GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0008168;methyltransferase activity;IEA|GO:0008173;RNA methyltransferase activity;IEA|GO:0016740;transferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TRMT2A	https://www.uniprot.org/uniprot/Q8IZ69		https://www.ncbi.nlm.nih.gov/omim/?term=611151	http://www.informatics.jax.org/searchtool/Search.do?query=TRMT2A&submit=Quick%0D%2348ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRMT2A
10_101.305_148.305	Chr10:78740262-120743937	1.191	TRUB1	ENSG00000165832	TruB pseudouridine synthase family member 1	chr10:116697952-116737430	Pseudouridine is an abundant component of rRNAs and tRNAs and is enzymatically generated by isomerization of uridine by pseudouridine synthase (Zucchini et al., 2003 [PubMed 12736709]).[supplied by OMIM, Mar 2008]	Alzheimer's disease 	 		GO:0001522;pseudouridine synthesis;IEA|GO:0006396;RNA processing;IEA|GO:0006400;tRNA modification;IBA|GO:0008033;tRNA processing;IEA|GO:0009451;RNA modification;IEA|GO:1990481;mRNA pseudouridine synthesis;IBA		GO:0003723;RNA binding;IEA|GO:0009982;pseudouridine synthase activity;IBA|GO:0016853;isomerase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TRUB1			https://www.ncbi.nlm.nih.gov/omim/?term=610726	http://www.informatics.jax.org/searchtool/Search.do?query=TRUB1&submit=Quick%0D%11638ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TRUB1
10_101.305_148.305	Chr10:78740262-120743937	1.191	TSPAN14	ENSG00000108219	tetraspanin 14	chr10:82213922-82292879			 	Neutrophil degranulation	GO:0043312;neutrophil degranulation;TAS|GO:0045747;positive regulation of Notch signaling pathway;IMP|GO:0051604;protein maturation;IMP|GO:0090002;establishment of protein localization to plasma membrane;IMP	GO:0005886;plasma membrane;TAS|GO:0005887;integral component of plasma membrane;IBA|GO:0009986;cell surface;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0035579;specific granule membrane;TAS|GO:0070821;tertiary granule membrane;TAS|GO:0097197;tetraspanin-enriched microdomain;IEA	GO:0019899;enzyme binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/TSPAN14	https://www.uniprot.org/uniprot/Q8NG11			http://www.informatics.jax.org/searchtool/Search.do?query=TSPAN14&submit=Quick%0D%3686ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TSPAN14
22_4.194_23.194	Chr22:17733575-25291782	0.374	TSSK2	ENSG00000206203	testis specific serine kinase 2	chr22:19118321-19120134	TSSK2 belongs to a family of serine/threonine kinases highly expressed in testis (Hao et al., 2004 [PubMed 15044604]).[supplied by OMIM, Mar 2008]	Human Spermatogenesis Impairment	Male mice homozygous for a knock-out allele of Tssk1 and 2 are infertile due to arrested spermatogenesis.		GO:0006468;protein phosphorylation;ISS|GO:0007275;multicellular organism development;IEA|GO:0007283;spermatogenesis;IEA|GO:0007286;spermatid development;ISS|GO:0016310;phosphorylation;IEA|GO:0030154;cell differentiation;IEA|GO:0035556;intracellular signal transduction;IBA|GO:0046777;protein autophosphorylation;IDA	GO:0001669;acrosomal vesicle;IEA|GO:0005634;nucleus;IDA|GO:0005737;cytoplasm;IBA|GO:0005814;centriole;IEA|GO:0005856;cytoskeleton;IEA	GO:0000166;nucleotide binding;IEA|GO:0000287;magnesium ion binding;IDA|GO:0004672;protein kinase activity;IEA|GO:0004674;protein serine/threonine kinase activity;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016301;kinase activity;IEA|GO:0016740;transferase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TSSK2			https://www.ncbi.nlm.nih.gov/omim/?term=610710	http://www.informatics.jax.org/searchtool/Search.do?query=TSSK2&submit=Quick%0D%17617ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TSSK2
22_4.194_23.194	Chr22:17733575-25291782	0.374	TUBA8	ENSG00000183785	tubulin alpha 8	chr22:18593097-18629321	This gene encodes a member of the alpha tubulin protein family. Alpha tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. Mutations in this gene are associated with polymicrogyria and optic nerve hypoplasia. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]	Type 2 Diabetes| edema | rosiglitazone; schizophrenia; schizoaffective disorder; bipolar disorder	Mice homozygous for a knock-out allele appear neurologically normal, progress to adulthood and exhibit normal fertility.	Kinesins	GO:0007010;cytoskeleton organization;IEA|GO:0007017;microtubule-based process;IEA	GO:0005737;cytoplasm;IEA|GO:0005856;cytoskeleton;IEA|GO:0005874;microtubule;IEA|GO:0015630;microtubule cytoskeleton;IDA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0000166;nucleotide binding;IEA|GO:0003924;GTPase activity;IEA|GO:0005200;structural constituent of cytoskeleton;IEA|GO:0005525;GTP binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TUBA8		https://hpo.jax.org/app/browse/search?q=TUBA8&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=605742	http://www.informatics.jax.org/searchtool/Search.do?query=TUBA8&submit=Quick%0D%15078ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TUBA8
2_252.744_266.744	Chr2:235528138-241561721	0.223	TWIST2	ENSG00000233608	twist family bHLH transcription factor 2	chr2:239756673-239795893	The protein encoded by this gene is a basic helix-loop-helix type transcription factor and shares similarity with Twist. This protein may inhibit osteoblast maturation and maintain cells in a preosteoblast phenotype during osteoblast development. This gene may be upregulated in certain cancers. Mutations in this gene cause focal facial dermal dysplasia 3, Setleis type. Two transcript variants encoding the same protein have been found. [provided by RefSeq, Apr 2014]	Bone Mineral Density	Deletion of this gene results in high postnatal lethality. Progressive growth retardation is observed with adipose tissue deficiency, skin, hair and muscle abnormalities, as well as hematopoietic and lymphoid organ defects including the spleen, thymus, and liver.		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0030154;cell differentiation;IEA|GO:0043066;negative regulation of apoptotic process;IEA|GO:0045668;negative regulation of osteoblast differentiation;IDA|GO:0045892;negative regulation of transcription, DNA-templated;ISS	GO:0005634;nucleus;IDA|GO:0005730;nucleolus;IDA|GO:0005737;cytoplasm;IDA	GO:0003677;DNA binding;IEA|GO:0005515;protein binding;IPI|GO:0046983;protein dimerization activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TWIST2		https://hpo.jax.org/app/browse/search?q=TWIST2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607556	http://www.informatics.jax.org/searchtool/Search.do?query=TWIST2&submit=Quick%0D%19191ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TWIST2
22_4.194_23.194	Chr22:17733575-25291782	0.374	TXNRD2	ENSG00000184470	thioredoxin reductase 2	chr22:19863040-19929341	This gene encodes a member of the class I pyridine nucleotide-disulfide oxidoreductase family. The encoded protein is a selenocysteine-containing flavoenzyme that maintains thioredoxins in a reduced state, thereby playing a key role in regulating the cellular redox environment. Mammals have three related thioredoxin reductases. This gene encodes a mitochondrial form important for scavenging of reactive oxygen species in mitochondria. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Sep 2013]	breast cancer; BMI- Edema rosiglitazone or pioglitazone; arsnic exposure; Aging/ Telomere Length; Type 2 Diabetes| edema | rosiglitazone; colorectal cancer; Stomach Neoplasms; breast cancer ; Acquired Immunodeficiency Syndrome|Disease Progression; Hypercholesterolemia|LDLC levels; Chronic renal failure|Kidney Failure, Chronic; bladder cancer; Degenerative arthropathy |Osteoarthritis; cognitive trait	Mice homozygous for a knock-out allele die at E13 due to severe anemia and growth retardation, resulting from perturbed cardiac development and augmented apoptosis of hematopoietic cells.	Detoxification of Reactive Oxygen Species	GO:0000305;response to oxygen radical;TAS|GO:0034599;cellular response to oxidative stress;TAS|GO:0045454;cell redox homeostasis;IEA|GO:0055114;oxidation-reduction process;IEA|GO:0098869;cellular oxidant detoxification;IEA	GO:0005623;cell;IEA|GO:0005739;mitochondrion;IDA|GO:0005759;mitochondrial matrix;TAS|GO:0005829;cytosol;IDA	GO:0004791;thioredoxin-disulfide reductase activity;IEA|GO:0005515;protein binding;IPI|GO:0016491;oxidoreductase activity;IEA|GO:0016668;oxidoreductase activity, acting on a sulfur group of donors, NAD(P) as acceptor;IEA|GO:0050660;flavin adenine dinucleotide binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/TXNRD2		https://hpo.jax.org/app/browse/search?q=TXNRD2&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606448	http://www.informatics.jax.org/searchtool/Search.do?query=TXNRD2&submit=Quick%0D%15213ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=TXNRD2
2_252.744_266.744	Chr2:235528138-241561721	0.223	UBE2F	ENSG00000184182	ubiquitin conjugating enzyme E2 F (putative)	chr2:238875469-238951236			 	Antigen processing: Ubiquitination & Proteasome degradation	GO:0016567;protein ubiquitination;IEA|GO:0043687;post-translational protein modification;TAS|GO:0045116;protein neddylation;IDA	GO:0005737;cytoplasm;IBA|GO:0005829;cytosol;TAS	GO:0000166;nucleotide binding;IEA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016740;transferase activity;IEA|GO:0019788;NEDD8 transferase activity;TAS|GO:0031625;ubiquitin protein ligase binding;IBA|GO:0061630;ubiquitin protein ligase activity;IBA	http://www.genecards.org/index.php?path=/Search/keyword/UBE2F				http://www.informatics.jax.org/searchtool/Search.do?query=UBE2F&submit=Quick%0D%15149ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UBE2F
2_252.744_266.744	Chr2:235528138-241561721	0.223	UBE2F-SCLY	ENSG00000258984	UBE2F-SCLY readthrough (NMD candidate)	chr2:238875656-239008053	This locus represents naturally occurring read-through transcription between the neighboring UBE2F (ubiquitin-conjugating enzyme E2F) and SCLY (selenocysteine lyase) genes on chromosome 2. The read-through transcript is a candidate for non-sense mediated mRNA decay (NMD), and is unlikely to produce a protein product. [provided by RefSeq, Feb 2011]							http://www.genecards.org/index.php?path=/Search/keyword/UBE2F-SCLY				http://www.informatics.jax.org/searchtool/Search.do?query=UBE2F-SCLY&submit=Quick%0D%20313ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UBE2F-SCLY
22_4.194_23.194	Chr22:17733575-25291782	0.374	UBE2L3	ENSG00000185651	ubiquitin conjugating enzyme E2 L3	chr22:21903736-21978323	The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes (E1s), ubiquitin-conjugating enzymes (E2s) and ubiquitin-protein ligases (E3s). This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is demonstrated to participate in the ubiquitination of p53, c-Fos, and the NF-kB precursor p105 in vitro. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]	Celiac disease; Crohn Disease|Crohn's disease; Autoimmune Diseases|Lupus Erythematosus, Systemic|Systemic lupus erythematosus; Crohn Disease; Cholesterol, HDL; Lupus Erythematosus, Systemic; Erythrocyte Indices; systemic lupus erythematosus	A portion of hypomorphic embyros die before birth while those that survive are growth retarded and do not survive past the first day of life. The embryonic and perinatal lethality are attributed to defective placental development.	Antigen processing: Ubiquitination & Proteasome degradation	GO:0000209;protein polyubiquitination;IDA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IDA|GO:0006464;cellular protein modification process;TAS|GO:0006511;ubiquitin-dependent protein catabolic process;TAS|GO:0008283;cell proliferation;IMP|GO:0016567;protein ubiquitination;TAS|GO:0031398;positive regulation of protein ubiquitination;IGI|GO:0044770;cell cycle phase transition;IMP|GO:0051443;positive regulation of ubiquitin-protein transferase activity;IGI|GO:0070979;protein K11-linked ubiquitination;IDA|GO:0071383;cellular response to steroid hormone stimulus;IMP|GO:0071385;cellular response to glucocorticoid stimulus;IDA|GO:1903955;positive regulation of protein targeting to mitochondrion;IMP	GO:0000151;ubiquitin ligase complex;TAS|GO:0005634;nucleus;IDA|GO:0005654;nucleoplasm;TAS|GO:0005737;cytoplasm;IDA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0000166;nucleotide binding;IEA|GO:0003713;transcription coactivator activity;IDA|GO:0003723;RNA binding;IDA|GO:0004842;ubiquitin-protein transferase activity;IDA|GO:0005515;protein binding;IPI|GO:0005524;ATP binding;IEA|GO:0016740;transferase activity;IEA|GO:0019899;enzyme binding;TAS|GO:0031625;ubiquitin protein ligase binding;IPI|GO:0061631;ubiquitin conjugating enzyme activity;IDA|GO:0097027;ubiquitin-protein transferase activator activity;IGI	http://www.genecards.org/index.php?path=/Search/keyword/UBE2L3			https://www.ncbi.nlm.nih.gov/omim/?term=603721	http://www.informatics.jax.org/searchtool/Search.do?query=UBE2L3&submit=Quick%0D%15457ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UBE2L3
10_101.305_148.305	Chr10:78740262-120743937	1.191	UBTD1	ENSG00000165886	ubiquitin domain containing 1	chr10:99258625-99330966	The degradation of many proteins is carried out by the ubiquitin pathway in which proteins are targeted for degradation by covalent conjugation of the polypeptide ubiquitin. This gene encodes a protein that belongs to the ubiquitin family of proteins. The encoded protein is thought to regulate E2 ubiquitin conjugating enzymes belonging to the UBE2D family. [provided by RefSeq, Mar 2014]		 				GO:0005515;protein binding;IPI|GO:0043130;ubiquitin binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/UBTD1			https://www.ncbi.nlm.nih.gov/omim/?term=616388	http://www.informatics.jax.org/searchtool/Search.do?query=UBTD1&submit=Quick%0D%11645ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UBTD1
22_4.194_23.194	Chr22:17733575-25291782	0.374	UPB1	ENSG00000100024	beta-ureidopropionase 1	chr22:24863206-24924358	This gene encodes a protein that belongs to the CN hydrolase family. Beta-ureidopropionase catalyzes the last step in the pyrimidine degradation pathway. The pyrimidine bases uracil and thymine are degraded via the consecutive action of dihydropyrimidine dehydrogenase (DHPDH), dihydropyrimidinase (DHP) and beta-ureidopropionase (UP) to beta-alanine and beta-aminoisobutyric acid, respectively. UP deficiencies are associated with N-carbamyl-beta-amino aciduria and may lead to abnormalities in neurological activity. [provided by RefSeq, Jul 2008]	Colorectal Neoplasms; Heart Failure; Type 2 Diabetes| edema | rosiglitazone	 	Pyrimidine catabolism	GO:0006807;nitrogen compound metabolic process;IEA|GO:0008152;metabolic process;IEA|GO:0019483;beta-alanine biosynthetic process;IEA|GO:0046135;pyrimidine nucleoside catabolic process;TAS	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS|GO:0070062;extracellular exosome;IDA	GO:0003824;catalytic activity;IEA|GO:0003837;beta-ureidopropionase activity;EXP|GO:0016787;hydrolase activity;IEA|GO:0016810;hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/UPB1	https://www.uniprot.org/uniprot/Q9UBR1	https://hpo.jax.org/app/browse/search?q=UPB1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=606673	http://www.informatics.jax.org/searchtool/Search.do?query=UPB1&submit=Quick%0D%2378ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=UPB1
10_101.305_148.305	Chr10:78740262-120743937	1.191	USMG5	ENSG00000173915	up-regulated during skeletal muscle growth 5 homolog (mouse)	chr10:105148798-105156223			 			GO:0005739;mitochondrion;IEA|GO:0005743;mitochondrial inner membrane;IEA|GO:0005753;mitochondrial proton-transporting ATP synthase complex;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0031966;mitochondrial membrane;IEA|GO:0070062;extracellular exosome;IDA		http://www.genecards.org/index.php?path=/Search/keyword/USMG5			https://www.ncbi.nlm.nih.gov/omim/?term=615204	http://www.informatics.jax.org/searchtool/Search.do?query=USMG5&submit=Quick%0D%13446ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=USMG5
22_4.194_23.194	Chr22:17733575-25291782	0.374	USP18	ENSG00000184979	ubiquitin specific peptidase 18	chr22:18632666-18660164	The protein encoded by this gene belongs to the ubiquitin-specific proteases (UBP) family of enzymes that cleave ubiquitin from ubiquitinated protein substrates. It is highly expressed in liver and thymus, and is localized to the nucleus. This protein efficiently cleaves only ISG15 (a ubiquitin-like protein) fusions, and deletion of this gene in mice results in a massive increase of ISG15 conjugates in tissues, indicating that this protein is a major ISG15-specific protease. Mice lacking this gene are also hypersensitive to interferon, suggesting a function of this protein in downregulating interferon responses, independent of its isopeptidase activity towards ISG15. [provided by RefSeq, Sep 2011]	Severe pseudo-TORCH syndrome (type 1 interferonopathy)	Homozygous null mutants die prematurely with cellular necrosis in the ependyma, breakdown of blood-brain barrier, hydrocephaly with enlarged ventricles, and severe neurological abnormalities. Mice homozygous for an ENU-induced allele exhibit increased susceptibility to Salmonella infection and LPS.	Regulation of IFNA signaling	GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0016579;protein deubiquitination;TAS|GO:0060338;regulation of type I interferon-mediated signaling pathway;TAS	GO:0005634;nucleus;TAS|GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;TAS	GO:0004843;thiol-dependent ubiquitin-specific protease activity;TAS|GO:0005515;protein binding;IPI|GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0019785;ISG15-specific protease activity;EXP|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;TAS	http://www.genecards.org/index.php?path=/Search/keyword/USP18		https://hpo.jax.org/app/browse/search?q=USP18&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=607057	http://www.informatics.jax.org/searchtool/Search.do?query=USP18&submit=Quick%0D%15306ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=USP18
22_4.194_23.194	Chr22:17733575-25291782	0.374	USP41	ENSG00000161133	ubiquitin specific peptidase 41	chr22:20704868-20745048			Homozygous null mutants die prematurely with cellular necrosis in the ependyma, breakdown of blood-brain barrier, hydrocephaly with enlarged ventricles, and severe neurological abnormalities. Mice homozygous for an ENU-induced allele exhibit increased susceptibility to Salmonella infection and LPS.	ISG15 antiviral mechanism	GO:0006508;proteolysis;IEA|GO:0006511;ubiquitin-dependent protein catabolic process;IEA|GO:0016579;protein deubiquitination;IEA		GO:0008233;peptidase activity;IEA|GO:0008234;cysteine-type peptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0036459;thiol-dependent ubiquitinyl hydrolase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/USP41				http://www.informatics.jax.org/searchtool/Search.do?query=USP41&submit=Quick%0D%10559ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=USP41
10_101.305_148.305	Chr10:78740262-120743937	1.191	VAX1	ENSG00000148704	ventral anterior homeobox 1	chr10:118888032-118897812	This gene encodes a homeo-domain containing protein from a class of homeobox transcription factors which are conserved in vertebrates. Genes of this family are involved in the regulation of body development and morphogenesis. The most conserved genes, called HOX genes are found in special gene clusters. This gene belongs to the VAX subfamily and lies in the vicinity of the EMX homeobox gene family. Another member of VAX family is located on chromosome 2. The encoded protein may play an important role in the development of anterior ventral forebrain and visual system. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	nonsyndromic cleft lip with or without cleft palate	Homozygous null mutants exhibit cleft palate and most die at birth. A few survive to 2 weeks of age. Mutants display defects in axon guidance, coloboma, dysgenesis of the optic nerve, defects of basal telencephalon, and holoprosencephaly.		GO:0000122;negative regulation of transcription from RNA polymerase II promoter;IEA|GO:0001764;neuron migration;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007275;multicellular organism development;IEA|GO:0007399;nervous system development;IEA|GO:0007406;negative regulation of neuroblast proliferation;IEA|GO:0007411;axon guidance;IEA|GO:0007417;central nervous system development;IEA|GO:0007420;brain development;IEA|GO:0030154;cell differentiation;IEA|GO:0035914;skeletal muscle cell differentiation;IEA|GO:0043010;camera-type eye development;IEA|GO:0060021;palate development;IEA	GO:0005634;nucleus;IEA	GO:0001162;RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding;IEA|GO:0001227;transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0031490;chromatin DNA binding;IEA|GO:0043565;sequence-specific DNA binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/VAX1	https://www.uniprot.org/uniprot/Q5SQQ9	https://hpo.jax.org/app/browse/search?q=VAX1&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=604294	http://www.informatics.jax.org/searchtool/Search.do?query=VAX1&submit=Quick%0D%9151ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VAX1
22_4.194_23.194	Chr22:17733575-25291782	0.374	VPREB1	ENSG00000169575	V-set pre-B cell surrogate light chain 1	chr22:22599087-22599927	The protein encoded by this gene belongs to the immunoglobulin superfamily and is expressed selectively at the early stages of B cell development, namely, in proB and early preB cells. This gene encodes the iota polypeptide chain that is associated with the Ig-mu chain to form a molecular complex which is expressed on the surface of pre-B cells. The complex is thought to regulate Ig gene rearrangements in the early steps of B-cell differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]	Heart Rate	Homozygous null mutants have fewer cells with functional pre-B cell receptors. Double knockouts homozygous for null mutations at Vpreb1 and Vpreb2 show impaired B-cell development. Fewer B-cells are found in bone marrow,  spleen and peritoneum.	Cell surface interactions at the vascular wall	GO:0002377;immunoglobulin production;IBA|GO:0006955;immune response;IBA|GO:0050900;leukocyte migration;TAS	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IBA		http://www.genecards.org/index.php?path=/Search/keyword/VPREB1			https://www.ncbi.nlm.nih.gov/omim/?term=605141	http://www.informatics.jax.org/searchtool/Search.do?query=VPREB1&submit=Quick%0D%12520ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VPREB1
22_4.194_23.194	Chr22:17733575-25291782	0.374	VPREB3	ENSG00000128218	V-set pre-B cell surrogate light chain 3	chr22:24094930-24096655	The protein encoded by this gene is the human ortholog of the mouse VpreB3 (8HS20) protein, is thought to be involved in B-cell maturation, and may play a role in assembly of the pre-B cell receptor (pre-BCR). While the role of this protein in B-cell development has not yet been elucidated, studies with the chicken ortholog of this protein have found that when overexpressed, this protein localizes to the endoplasmic reticulum. The mouse ortholog of this protein has been shown to associate with membrane mu heavy chains early in the course of pre-B cell receptor biosynthesis. Expression of this gene has been observed in some lymphomas. [provided by RefSeq, Apr 2015]		 	Cell surface interactions at the vascular wall	GO:0002377;immunoglobulin production;IBA|GO:0006955;immune response;IBA|GO:0050900;leukocyte migration;TAS	GO:0005576;extracellular region;TAS|GO:0005615;extracellular space;IBA|GO:0005783;endoplasmic reticulum;NAS		http://www.genecards.org/index.php?path=/Search/keyword/VPREB3	https://www.uniprot.org/uniprot/Q9UKI3		https://www.ncbi.nlm.nih.gov/omim/?term=605017	http://www.informatics.jax.org/searchtool/Search.do?query=VPREB3&submit=Quick%0D%6107ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VPREB3
10_101.305_148.305	Chr10:78740262-120743937	1.191	VTI1A	ENSG00000151532	vesicle transport through interaction with t-SNAREs 1A	chr10:114206756-114578503	The protein encoded by this gene is a member of the family of soluble N-ethylmaleimide-sensitive fusion protein-attachment protein receptors (SNAREs) that function in intracellular trafficking. This family member is involved in vesicular transport between endosomes and the trans-Golgi network. It is a vesicle-associated SNARE (v-SNARE) that interacts with target membrane SNAREs (t-SNAREs). Polymorphisms in this gene have been associated with binocular function, and also with susceptibility to colorectal and lung cancers. A recurrent rearrangement has been found between this gene and the transcription factor 7-like 2 (TCF7L2) gene in colorectal cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]	Alzheimer's disease ; Heart Function Tests; Brain Ischemia|Cardiovascular Diseases|Coronary Disease|Stroke; Tobacco Use Disorder; Lipoproteins, LDL; Coronary Disease|Coronary heart disease|Myocardial Infarction; Prostatic Neoplasms	Mice homozygous for a knock-out allele are viable and fertile.	Retrograde transport at the Trans-Golgi-Network	GO:0006623;protein targeting to vacuole;IBA|GO:0006810;transport;IEA|GO:0006886;intracellular protein transport;IEA|GO:0006888;ER to Golgi vesicle-mediated transport;IBA|GO:0006891;intra-Golgi vesicle-mediated transport;IBA|GO:0006896;Golgi to vacuole transport;IBA|GO:0006914;autophagy;IMP|GO:0015031;protein transport;IEA|GO:0016192;vesicle-mediated transport;IEA|GO:0042147;retrograde transport, endosome to Golgi;IDA|GO:0048280;vesicle fusion with Golgi apparatus;IBA|GO:0050882;voluntary musculoskeletal movement;IMP|GO:0090161;Golgi ribbon formation;IMP	GO:0000139;Golgi membrane;TAS|GO:0005768;endosome;ISS|GO:0005776;autophagosome;IDA|GO:0005789;endoplasmic reticulum membrane;IBA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;IEA|GO:0008021;synaptic vesicle;ISS|GO:0012507;ER to Golgi transport vesicle membrane;IBA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030136;clathrin-coated vesicle;ISS|GO:0031201;SNARE complex;TAS|GO:0031410;cytoplasmic vesicle;IEA|GO:0031902;late endosome membrane;IBA|GO:0032588;trans-Golgi network membrane;TAS|GO:0043025;neuronal cell body;ISS|GO:0043231;intracellular membrane-bounded organelle;IDA|GO:0044306;neuron projection terminus;ISS|GO:0048471;perinuclear region of cytoplasm;ISS	GO:0000149;SNARE binding;IBA|GO:0005484;SNAP receptor activity;IDA|GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/VTI1A	https://www.uniprot.org/uniprot/Q96AJ9		https://www.ncbi.nlm.nih.gov/omim/?term=614316	http://www.informatics.jax.org/searchtool/Search.do?query=VTI1A&submit=Quick%0D%9434ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VTI1A
10_101.305_148.305	Chr10:78740262-120743937	1.191	VWA2	ENSG00000165816	von Willebrand factor A domain containing 2	chr10:115999018-116051272	This gene encodes a member of the von Willebrand factor A-like domain protein superfamily. The encoded protein is localized to the extracellular matrix and may serve as a structural component in basement membranes or in anchoring structures on scaffolds of collagen VII or fibrillin. This gene has been linked to type 1A diabetes and is a candidate serological marker for colon cancer. [provided by RefSeq, Jan 2013]	Alzheimer's disease ; Myocardial Infarction	 		GO:0007161;calcium-independent cell-matrix adhesion;IEA|GO:0046626;regulation of insulin receptor signaling pathway;IMP|GO:0051260;protein homooligomerization;IDA	GO:0005576;extracellular region;IEA|GO:0005604;basement membrane;IEA|GO:0005615;extracellular space;IDA|GO:0070062;extracellular exosome;IDA	GO:0005509;calcium ion binding;IEA|GO:0005515;protein binding;IPI|GO:0042802;identical protein binding;IDA	http://www.genecards.org/index.php?path=/Search/keyword/VWA2				http://www.informatics.jax.org/searchtool/Search.do?query=VWA2&submit=Quick%0D%11634ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=VWA2
10_101.305_148.305	Chr10:78740262-120743937	1.191	WBP1L	ENSG00000166272	WW domain binding protein 1 like	chr10:104503727-104576021		Alzheimer's disease 	 			GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0005515;protein binding;IPI	http://www.genecards.org/index.php?path=/Search/keyword/WBP1L			https://www.ncbi.nlm.nih.gov/omim/?term=611129	http://www.informatics.jax.org/searchtool/Search.do?query=WBP1L&submit=Quick%0D%11747ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WBP1L
10_101.305_148.305	Chr10:78740262-120743937	1.191	WNT8B	ENSG00000075290	Wnt family member 8B	chr10:102222798-102243501	The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 95%, 86% and 71% amino acid identity to the mouse, zebrafish and Xenopus Wnt8B proteins, respectively. The expression patterns of the human and mouse genes appear identical and are restricted to the developing brain. The chromosomal location of this gene to 10q24 suggests it as a candidate gene for partial epilepsy. [provided by RefSeq, Jul 2008]	Chronic renal failure|Kidney Failure, Chronic; Alzheimer's disease 	Mice homozygous for a null allele are viable and healthy with no evidence of hippocampal or hypothalamic defects and normal cell proliferation in the neurogenic region of the adult dentate gyrus.	Disassembly of the destruction complex and recruitment of AXIN to the membrane	GO:0007165;signal transduction;TAS|GO:0007275;multicellular organism development;IEA|GO:0007369;gastrulation;ISS|GO:0007399;nervous system development;TAS|GO:0016055;Wnt signaling pathway;TAS|GO:0030182;neuron differentiation;IBA|GO:0032355;response to estradiol;NAS|GO:0032526;response to retinoic acid;NAS|GO:0045165;cell fate commitment;IBA|GO:0048263;determination of dorsal identity;ISS|GO:0071300;cellular response to retinoic acid;ISS|GO:1904886;beta-catenin destruction complex disassembly;TAS	GO:0005576;extracellular region;TAS|GO:0005578;proteinaceous extracellular matrix;IEA|GO:0005615;extracellular space;IBA	GO:0005102;receptor binding;IEA|GO:0005109;frizzled binding;IBA	http://www.genecards.org/index.php?path=/Search/keyword/WNT8B	https://www.uniprot.org/uniprot/Q93098		https://www.ncbi.nlm.nih.gov/omim/?term=601396	http://www.informatics.jax.org/searchtool/Search.do?query=WNT8B&submit=Quick%0D%1537ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=WNT8B
10_101.305_148.305	Chr10:78740262-120743937	1.191	XPNPEP1	ENSG00000108039	X-prolyl aminopeptidase 1	chr10:111624524-111683311	This gene encodes the cytosolic form of a metalloaminopeptidase that catalyzes the cleavage of the N-terminal amino acid adjacent to a proline residue. The gene product may play a role in degradation and maturation of tachykinins, neuropeptides, and peptide hormones. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Nov 2009]	Biliary Atresia; Tobacco Use Disorder; Alzheimer's disease 	Mice homozygous for a gene trap allele exhibit pre and postnatal lethality, reduced male survival, growth retardation with decreased body weight, size and length, microcephaly and peptiduria.		GO:0006508;proteolysis;IEA|GO:0010815;bradykinin catabolic process;IDA	GO:0005737;cytoplasm;IEA|GO:0005829;cytosol;IDA|GO:0070062;extracellular exosome;IDA	GO:0004177;aminopeptidase activity;TAS|GO:0008233;peptidase activity;IEA|GO:0008237;metallopeptidase activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0030145;manganese ion binding;IDA|GO:0042803;protein homodimerization activity;IPI|GO:0046872;metal ion binding;IEA|GO:0070006;metalloaminopeptidase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/XPNPEP1	https://www.uniprot.org/uniprot/Q9NQW7		https://www.ncbi.nlm.nih.gov/omim/?term=602443	http://www.informatics.jax.org/searchtool/Search.do?query=XPNPEP1&submit=Quick%0D%3673ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=XPNPEP1
22_4.194_23.194	Chr22:17733575-25291782	0.374	YDJC	ENSG00000161179	YdjC chitooligosaccharide deacetylase homolog	chr22:21982378-21984353		Autoimmune Diseases; Celiac Disease	 		GO:0005975;carbohydrate metabolic process;IEA		GO:0000287;magnesium ion binding;ISS|GO:0003824;catalytic activity;IEA|GO:0016787;hydrolase activity;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/YDJC				http://www.informatics.jax.org/searchtool/Search.do?query=YDJC&submit=Quick%0D%10560ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=YDJC
22_4.194_23.194	Chr22:17733575-25291782	0.374	YPEL1	ENSG00000100027	yippee like 1	chr22:22051833-22090123	This gene is located in the region associated with DiGeorge syndrome on chromosome 22. The encoded protein localizes to the centrosome and nucleolus and may play a role in the regulation of cell division. [provided by RefSeq, Feb 2015]	breast cancer; Tobacco Use Disorder	 			GO:0005634;nucleus;IEA	GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/YPEL1	https://www.uniprot.org/uniprot/O60688		https://www.ncbi.nlm.nih.gov/omim/?term=608082	http://www.informatics.jax.org/searchtool/Search.do?query=YPEL1&submit=Quick%0D%2379ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=YPEL1
10_101.305_148.305	Chr10:78740262-120743937	1.191	ZCCHC24	ENSG00000165424	zinc finger CCHC-type containing 24	chr10:81142081-81205383		Tobacco Use Disorder; Alzheimer's disease 	 				GO:0003676;nucleic acid binding;IEA|GO:0003723;RNA binding;IDA|GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZCCHC24				http://www.informatics.jax.org/searchtool/Search.do?query=ZCCHC24&submit=Quick%0D%11536ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZCCHC24
10_101.305_148.305	Chr10:78740262-120743937	1.191	ZDHHC16	ENSG00000171307	zinc finger DHHC-type containing 16	chr10:99205927-99217127		Alzheimer's disease 	Mice homozygous for a null mutation display prenatal and neonatal lethality with bradycardia, abnormal heart morphology and eye defects.		GO:0006915;apoptotic process;IEA|GO:0018345;protein palmitoylation;IDA	GO:0005737;cytoplasm;IEA|GO:0005783;endoplasmic reticulum;IEA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0016409;palmitoyltransferase activity;IDA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0019706;protein-cysteine S-palmitoyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZDHHC16			https://www.ncbi.nlm.nih.gov/omim/?term=616750	http://www.informatics.jax.org/searchtool/Search.do?query=ZDHHC16&submit=Quick%0D%12897ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZDHHC16
10_101.305_148.305	Chr10:78740262-120743937	1.191	ZDHHC6	ENSG00000023041	zinc finger DHHC-type containing 6	chr10:114190058-114206672		Tobacco Use Disorder	 		GO:0018345;protein palmitoylation;IDA	GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA	GO:0016409;palmitoyltransferase activity;IDA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0019706;protein-cysteine S-palmitoyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZDHHC6	https://www.uniprot.org/uniprot/Q9H6R6			http://www.informatics.jax.org/searchtool/Search.do?query=ZDHHC6&submit=Quick%0D%677ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZDHHC6
22_4.194_23.194	Chr22:17733575-25291782	0.374	ZDHHC8	ENSG00000099904	zinc finger DHHC-type containing 8	chr22:20116979-20135530	This gene encodes a four transmembrane protein that is a member of the zinc finger DHHC domain-containing protein family. The encoded protein may function as a palmitoyltransferase. Defects in this gene may be associated with a susceptibility to schizophrenia. Alternate splicing of this gene results in multiple transcript variants. A pseudogene of this gene is found on chromosome 22.[provided by RefSeq, May 2010]	Bulimia; Parkinson Disease; Schizophrenia; Weight Gain; schizophrenia; schizophrenia; bipolar disorder; smooth pursuit eye movement abnormality	Homozygous null females display impaired prepulse inhibition and reduced exploration in new environments. Homozygous null males display normal prepulse inhibition and only a slight decrease in exploration.	HDL assembly	GO:0007626;locomotory behavior;IEA|GO:0018345;protein palmitoylation;IEA|GO:0034380;high-density lipoprotein particle assembly;TAS|GO:1903146;regulation of mitophagy;IMP|GO:1903955;positive regulation of protein targeting to mitochondrion;IMP	GO:0005739;mitochondrion;IEA|GO:0005794;Golgi apparatus;IDA|GO:0005829;cytosol;TAS|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030659;cytoplasmic vesicle membrane;IEA|GO:0031410;cytoplasmic vesicle;IEA	GO:0016409;palmitoyltransferase activity;IEA|GO:0016740;transferase activity;IEA|GO:0016746;transferase activity, transferring acyl groups;IEA|GO:0019706;protein-cysteine S-palmitoyltransferase activity;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZDHHC8	https://www.uniprot.org/uniprot/Q9ULC8		https://www.ncbi.nlm.nih.gov/omim/?term=608784	http://www.informatics.jax.org/searchtool/Search.do?query=ZDHHC8&submit=Quick%0D%2350ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZDHHC8
10_101.305_148.305	Chr10:78740262-120743937	1.191	ZFYVE27	ENSG00000155256	zinc finger FYVE-type containing 27	chr10:99496878-99520664	This gene encodes a protein with several transmembrane domains, a Rab11-binding domain and a lipid-binding FYVE finger domain. The encoded protein appears to promote neurite formation. A mutation in this gene has been reported to be associated with hereditary spastic paraplegia, however the pathogenicity of the mutation, which may simply represent a polymorphism, is unclear. [provided by RefSeq, Mar 2010]	Alzheimer's disease 	 		GO:0016192;vesicle-mediated transport;IDA|GO:0031175;neuron projection development;IDA|GO:0045773;positive regulation of axon extension;ISS|GO:0048011;neurotrophin TRK receptor signaling pathway;ISS|GO:0071787;endoplasmic reticulum tubular network formation;IMP|GO:0072659;protein localization to plasma membrane;ISS	GO:0005737;cytoplasm;IEA|GO:0005768;endosome;IEA|GO:0005783;endoplasmic reticulum;IDA|GO:0005789;endoplasmic reticulum membrane;IEA|GO:0005886;plasma membrane;IEA|GO:0016020;membrane;IEA|GO:0016021;integral component of membrane;IEA|GO:0030176;integral component of endoplasmic reticulum membrane;IDA|GO:0030424;axon;ISS|GO:0030425;dendrite;ISS|GO:0032584;growth cone membrane;IEA|GO:0042995;cell projection;IEA|GO:0055038;recycling endosome membrane;IEA|GO:0071782;endoplasmic reticulum tubular network;IDA	GO:0005515;protein binding;IPI|GO:0043621;protein self-association;IDA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZFYVE27	https://www.uniprot.org/uniprot/Q5T4F4	https://hpo.jax.org/app/browse/search?q=ZFYVE27&navFilter=all	https://www.ncbi.nlm.nih.gov/omim/?term=610243	http://www.informatics.jax.org/searchtool/Search.do?query=ZFYVE27&submit=Quick%0D%9852ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZFYVE27
10_101.305_148.305	Chr10:78740262-120743937	1.191	ZMIZ1	ENSG00000108175	zinc finger MIZ-type containing 1	chr10:80828792-81076276	This gene encodes a member of the PIAS (protein inhibitor of activated STAT) family of proteins. The encoded protein regulates the activity of various transcription factors, including the androgen receptor, Smad3/4, and p53. The encoded protein may also play a role in sumoylation. A translocation between this locus on chromosome 10 and the protein tyrosine kinase ABL1 locus on chromosome 9 has been associated with acute lymphoblastic leukemia. [provided by RefSeq, Mar 2010]	Triglycerides; Vitiligo; Bipolar Disorder; Crohn Disease; Celiac Disease; multiple sclerosis; Multiple Sclerosis; Breath Tests; Inflammatory Bowel Diseases; Crohn Disease|Crohn's disease; Tobacco Use Disorder; Lipids; Alzheimer's disease ; diabetes, type 1 ; inflammatory bowel disease (early onset); Celiac disease; Attention Deficit Disorder with Hyperactivity; diabetes, type 2; Body Weight	Mice homozygous for a null mutation display embryonic lethality during organogenesis with failure of yolk sac vascular remodeling and abnormal embryonic vascular development.		GO:0001570;vasculogenesis;IEA|GO:0001701;in utero embryonic development;IEA|GO:0003007;heart morphogenesis;IEA|GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0007296;vitellogenesis;IEA|GO:0007569;cell aging;IEA|GO:0045582;positive regulation of T cell differentiation;IEA|GO:0045747;positive regulation of Notch signaling pathway;IEA|GO:0045944;positive regulation of transcription from RNA polymerase II promoter;IDA|GO:0048146;positive regulation of fibroblast proliferation;IEA|GO:0048589;developmental growth;IEA|GO:0048844;artery morphogenesis;IEA	GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0005737;cytoplasm;IEA|GO:0016607;nuclear speck;IEA|GO:0043231;intracellular membrane-bounded organelle;IDA	GO:0008270;zinc ion binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZMIZ1	https://www.uniprot.org/uniprot/Q9ULJ6		https://www.ncbi.nlm.nih.gov/omim/?term=607159	http://www.informatics.jax.org/searchtool/Search.do?query=ZMIZ1&submit=Quick%0D%3682ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZMIZ1
22_4.194_23.194	Chr22:17733575-25291782	0.374	ZNF280A	ENSG00000275499	zinc finger protein 280A	chr22:22868060-22874613	This gene encodes a zinc finger protein. The encoded protein contains 4 C2H2-type zinc fingers, which are commonly found in transcription factors. A variety of functions may be performed by this type of zinc finger protein, including the binding of DNA or RNA. [provided by RefSeq, Apr 2014]						GO:0003676;nucleic acid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF280A				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF280A&submit=Quick%0D%21364ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF280A
22_4.194_23.194	Chr22:17733575-25291782	0.374	ZNF280B	ENSG00000277421	zinc finger protein 280B	chr22:22838767-22863505	The protein encoded by this gene is a transcription factor that upregulates expression of MDM2, which negatively regulates p53 expression. This gene is highly expressed in prostate cancer cells, which leads to a reduction in p53 levels and an increase in growth of the cancer cells. Several transcript variants have been found for this gene, but only one of them is protein-coding. [provided by RefSeq, Jan 2015]	Prostatic Neoplasms	 				GO:0003676;nucleic acid binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF280B				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF280B&submit=Quick%0D%21831ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF280B
10_101.305_148.305	Chr10:78740262-120743937	1.191	ZNF518A	ENSG00000177853	zinc finger protein 518A	chr10:97889472-97965044	The protein encoded by this gene is a member of the krueppel C2H2-type zinc finger protein family. The encoded protein contains five zinc fingers and is likely a nuclear transcriptional regulator. Numerous transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Aug 2016]	Cholesterol, LDL	 		GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA|GO:0006357;regulation of transcription from RNA polymerase II promoter;IEA	GO:0005634;nucleus;IEA	GO:0000981;RNA polymerase II transcription factor activity, sequence-specific DNA binding;IBA|GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF518A				http://www.informatics.jax.org/searchtool/Search.do?query=ZNF518A&submit=Quick%0D%14094ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF518A
22_4.194_23.194	Chr22:17733575-25291782	0.374	ZNF70	ENSG00000187792	zinc finger protein 70	chr22:24083769-24093279			 	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;IEA	GO:0005634;nucleus;IEA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF70			https://www.ncbi.nlm.nih.gov/omim/?term=194544	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF70&submit=Quick%0D%15899ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF70
22_4.194_23.194	Chr22:17733575-25291782	0.374	ZNF74	ENSG00000185252	zinc finger protein 74	chr22:20748405-20762745		schizophrenia	A subset of male chimeras hemizygous for a gene trapped allele exhibit embryonic growth retardation. Mice heterozygous and homozygous for a gene trap allele exhibit premature death.	Generic Transcription Pathway	GO:0006351;transcription, DNA-templated;IEA|GO:0006355;regulation of transcription, DNA-templated;TAS|GO:0007275;multicellular organism development;TAS	GO:0005622;intracellular;IEA|GO:0005634;nucleus;IEA|GO:0005654;nucleoplasm;IDA|GO:0015629;actin cytoskeleton;IDA	GO:0003676;nucleic acid binding;IEA|GO:0003677;DNA binding;IEA|GO:0003700;transcription factor activity, sequence-specific DNA binding;IBA|GO:0003723;RNA binding;IEA|GO:0046872;metal ion binding;IEA	http://www.genecards.org/index.php?path=/Search/keyword/ZNF74			https://www.ncbi.nlm.nih.gov/omim/?term=194548	http://www.informatics.jax.org/searchtool/Search.do?query=ZNF74&submit=Quick%0D%15376ASearch	https://www.ncbi.nlm.nih.gov/pubmed/?term=ZNF74