ID Gene Name Species GENETIC_ASSOCIATION_DB_DISEASE_CLASS KDSR 3-ketodihydrosphingosine reductase Homo sapiens REPRODUCTION, AKAP9 A kinase (PRKA) anchor protein (yotiao) 9 Homo sapiens CANCER, ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 Homo sapiens AGING,CANCER,CARDIOVASCULAR,IMMUNE,INFECTION,METABOLIC,NEUROLOGICAL,NORMALVARIATION,OTHER,PHARMACOGENOMIC,PSYCH,RENAL,UNKNOWN,VISION, ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11 Homo sapiens METABOLIC,OTHER,PHARMACOGENOMIC, ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4 Homo sapiens METABOLIC,OTHER,PHARMACOGENOMIC,REPRODUCTION, ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 Homo sapiens METABOLIC, ABCC1 ATP-binding cassette, sub-family C (CFTR/MRP), member 1 Homo sapiens CANCER,CARDIOVASCULAR,IMMUNE,METABOLIC,OTHER,PHARMACOGENOMIC, ABCC6 ATP-binding cassette, sub-family C, member 6 pseudogene 2; ATP-binding cassette, sub-family C (CFTR/MRP), member 6 Homo sapiens CARDIOVASCULAR,METABOLIC,OTHER, ATP8B1 ATPase, class I, type 8B, member 1 Homo sapiens METABOLIC,OTHER, BCL2 B-cell CLL/lymphoma 2 Homo sapiens CANCER,DEVELOPMENTAL,HEMATOLOGICAL,IMMUNE,OTHER, CFLAR CASP8 and FADD-like apoptosis regulator Homo sapiens CANCER, CD274 CD274 molecule Homo sapiens IMMUNE, CDC42SE2 CDC42 small effector 2 Homo sapiens PSYCH, CHRNA7 CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion; cholinergic receptor, nicotinic, alpha 7 Homo sapiens CHEMDEPENDENCY,NEUROLOGICAL,PSYCH, DGCR14 DiGeorge syndrome critical region gene 14 Homo sapiens PSYCH, DGCR2 DiGeorge syndrome critical region gene 2 Homo sapiens PSYCH, GRK4 G protein-coupled receptor kinase 4 Homo sapiens CARDIOVASCULAR, GFRA3 GDNF family receptor alpha 3 Homo sapiens CANCER,OTHER, HPS4 Hermansky-Pudlak syndrome 4 Homo sapiens UNKNOWN, IHH Indian hedgehog homolog (Drosophila) Homo sapiens OTHER, JAK2 Janus kinase 2 Homo sapiens CANCER,CARDIOVASCULAR,DEVELOPMENTAL,HEMATOLOGICAL,OTHER,PHARMACOGENOMIC,REPRODUCTION, KIAA0020 KIAA0020 Homo sapiens IMMUNE, KRIT1 KRIT1, ankyrin repeat containing Homo sapiens CARDIOVASCULAR, MAD2L1 MAD2 mitotic arrest deficient-like 1 (yeast) Homo sapiens CANCER, NAPG N-ethylmaleimide-sensitive factor attachment protein, gamma Homo sapiens PSYCH, NDUFV2 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa Homo sapiens NEUROLOGICAL,PSYCH, NLRP3 NLR family, pyrin domain containing 3 Homo sapiens CARDIOVASCULAR,IMMUNE,METABOLIC, NOP10 NOP10 ribonucleoprotein homolog (yeast) Homo sapiens HEMATOLOGICAL, PMS1 PMS1 postmeiotic segregation increased 1 (S. cerevisiae) Homo sapiens CANCER, PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae) Homo sapiens CANCER, SCO2 SCO cytochrome oxidase deficient homolog 2 (yeast) Homo sapiens CARDIOVASCULAR, SMYD3 SET and MYND domain containing 3 Homo sapiens CANCER, SH2B2 SH2B adaptor protein 2 Homo sapiens CANCER, SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 Homo sapiens PSYCH, TBX1 T-box 1 Homo sapiens CARDIOVASCULAR,DEVELOPMENTAL, TGIF1 TGFB-induced factor homeobox 1 Homo sapiens VISION, GALNT3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) Homo sapiens IMMUNE, ACHE acetylcholinesterase (Yt blood group) Homo sapiens NEUROLOGICAL,NORMALVARIATION,OTHER,PSYCH,RENAL,UNKNOWN, ARPC1A actin related protein 2/3 complex, subunit 1A, 41kDa Homo sapiens CANCER, ACTC1 actin, alpha, cardiac muscle 1 Homo sapiens CARDIOVASCULAR, ATF2 activating transcription factor 2 Homo sapiens PSYCH, ACSL6 acyl-CoA synthetase long-chain family member 6 Homo sapiens PSYCH, AOAH acyloxyacyl hydrolase (neutrophil) Homo sapiens IMMUNE, AP1B1 adaptor-related protein complex 1, beta 1 subunit Homo sapiens INFECTION, ADD1 adducin 1 (alpha) Homo sapiens CARDIOVASCULAR,CHEMDEPENDENCY,DEVELOPMENTAL,HEMATOLOGICAL,METABOLIC,PHARMACOGENOMIC,RENAL,REPRODUCTION,UNKNOWN, ADCYAP1 adenylate cyclase activating polypeptide 1 (pituitary) Homo sapiens IMMUNE,METABOLIC,PSYCH, AGXT alanine-glyoxylate aminotransferase Homo sapiens METABOLIC,OTHER, ALDOA aldolase A, fructose-bisphosphate Homo sapiens HEMATOLOGICAL, ALS2 amyotrophic lateral sclerosis 2 (juvenile) Homo sapiens NEUROLOGICAL,OTHER, ANXA5 annexin A5 Homo sapiens CARDIOVASCULAR,IMMUNE,REPRODUCTION, ARVCF armadillo repeat gene deletes in velocardiofacial syndrome Homo sapiens PSYCH, ARSA arylsulfatase A Homo sapiens CHEMDEPENDENCY,METABOLIC,NEUROLOGICAL,OTHER, BPI bactericidal/permeability-increasing protein Homo sapiens CARDIOVASCULAR,IMMUNE,INFECTION, BTRC beta-transducin repeat containing Homo sapiens CANCER, BOLL bol, boule-like (Drosophila) Homo sapiens REPRODUCTION, BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase) Homo sapiens CARDIOVASCULAR,OTHER, CALCR calcitonin receptor Homo sapiens CANCER,IMMUNE,METABOLIC,OTHER,RENAL, CALCRL calcitonin receptor-like Homo sapiens CARDIOVASCULAR, CAPN10 calpain 10 Homo sapiens CANCER,CARDIOVASCULAR,METABOLIC,NORMALVARIATION,OTHER, CNDP1 carnosine dipeptidase 1 (metallopeptidase M20 family) Homo sapiens CARDIOVASCULAR,METABOLIC,RENAL, CASP10 caspase 10, apoptosis-related cysteine peptidase Homo sapiens CANCER,DEVELOPMENTAL, CASP8 caspase 8, apoptosis-related cysteine peptidase Homo sapiens CANCER,DEVELOPMENTAL, COMT catechol-O-methyltransferase Homo sapiens AGING,CANCER,CARDIOVASCULAR,CHEMDEPENDENCY,METABOLIC,NEUROLOGICAL,NORMALVARIATION,OTHER,PHARMACOGENOMIC,PSYCH,REPRODUCTION,UNKNOWN, CIDEA cell death-inducing DFFA-like effector a Homo sapiens METABOLIC, CPT1B, CHKB choline kinase beta; carnitine palmitoyltransferase 1B (muscle) Homo sapiens CARDIOVASCULAR,METABOLIC, CHRM5 cholinergic receptor, muscarinic 5 Homo sapiens PSYCH, CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle) Homo sapiens IMMUNE,PSYCH, CHMP1B chromatin modifying protein 1B Homo sapiens PSYCH, CLDN5 claudin 5 Homo sapiens PSYCH, F8 coagulation factor VIII, procoagulant component Homo sapiens CARDIOVASCULAR,HEMATOLOGICAL,METABOLIC,NEUROLOGICAL,NORMALVARIATION,OTHER,REPRODUCTION,VISION, F11 coagulation factor XI Homo sapiens CANCER,CARDIOVASCULAR,HEMATOLOGICAL,OTHER, COL1A2 collagen, type I, alpha 2 Homo sapiens CARDIOVASCULAR,METABOLIC,NORMALVARIATION,OTHER, COL3A1 collagen, type III, alpha 1 Homo sapiens CARDIOVASCULAR,OTHER, COL5A2 collagen, type V, alpha 2 Homo sapiens METABOLIC, CSF2 colony stimulating factor 2 (granulocyte-macrophage) Homo sapiens CANCER,IMMUNE, DMTF1 cyclin D binding myb-like transcription factor 1 Homo sapiens CANCER, CDK6 cyclin-dependent kinase 6 Homo sapiens CANCER, CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4 Homo sapiens CANCER,CARDIOVASCULAR,DEVELOPMENTAL,HEMATOLOGICAL,IMMUNE,INFECTION,METABOLIC,NEUROLOGICAL,NORMALVARIATION,PHARMACOGENOMIC,RENAL,REPRODUCTION,UNKNOWN, CYP3A43 cytochrome P450, family 3, subfamily A, polypeptide 43 Homo sapiens CANCER,NORMALVARIATION, CYP3A5 cytochrome P450, family 3, subfamily A, polypeptide 5 Homo sapiens CANCER,CARDIOVASCULAR,DEVELOPMENTAL,IMMUNE,INFECTION,METABOLIC,NEUROLOGICAL,NORMALVARIATION,OTHER,PHARMACOGENOMIC,RENAL,REPRODUCTION, CYP3A7 cytochrome P450, family 3, subfamily A, polypeptide 7 Homo sapiens METABOLIC,NORMALVARIATION, CYP4V2 cytochrome P450, family 4, subfamily V, polypeptide 2 Homo sapiens CARDIOVASCULAR, CYBRD1 cytochrome b reductase 1 Homo sapiens METABOLIC, DES desmin Homo sapiens CARDIOVASCULAR, EGR1 early growth response 1 Homo sapiens METABOLIC, EPHX1 epoxide hydrolase 1, microsomal (xenobiotic) Homo sapiens CANCER,CARDIOVASCULAR,CHEMDEPENDENCY,DEVELOPMENTAL,HEMATOLOGICAL,IMMUNE,INFECTION,METABOLIC,NEUROLOGICAL,NORMALVARIATION,OTHER,PHARMACOGENOMIC,REPRODUCTION,UNKNOWN,VISION, EXO1 exonuclease 1 Homo sapiens CANCER, FABP2 fatty acid binding protein 2, intestinal Homo sapiens CARDIOVASCULAR,IMMUNE,METABOLIC,OTHER,PHARMACOGENOMIC,RENAL, FGFR3 fibroblast growth factor receptor 3 Homo sapiens CANCER,DEVELOPMENTAL,OTHER, GALR1 galanin receptor 1 Homo sapiens CHEMDEPENDENCY,METABOLIC, GJA5 gap junction protein, alpha 5, 40kDa Homo sapiens CARDIOVASCULAR, GJA8 gap junction protein, alpha 8, 50kDa Homo sapiens PSYCH, GAD1 glutamate decarboxylase 1 (brain, 67kDa) Homo sapiens DEVELOPMENTAL,IMMUNE,PSYCH, GLS glutaminase Homo sapiens PSYCH, GLDC glycine dehydrogenase (decarboxylating) Homo sapiens METABOLIC, GLRA3 glycine receptor, alpha 3 Homo sapiens NEUROLOGICAL, GP1BB glycoprotein Ib (platelet), beta polypeptide Homo sapiens HEMATOLOGICAL, GHRH growth hormone releasing hormone Homo sapiens CANCER,DEVELOPMENTAL, GNAL guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type Homo sapiens PSYCH, GNGT1 guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1 Homo sapiens UNKNOWN, HSPE1 heat shock 10kDa protein 1 (chaperonin 10) Homo sapiens CANCER, HSPD1 heat shock 60kDa protein 1 (chaperonin) pseudogene 5; heat shock 60kDa protein 1 (chaperonin) pseudogene 6; heat shock 60kDa protein 1 (chaperonin) pseudogene 1; heat shock 60kDa protein 1 (chaperonin) pseudogene 4; heat shock 60kDa protein 1 (chaperonin) Homo sapiens IMMUNE,NEUROLOGICAL,NORMALVARIATION, HPSE heparanase Homo sapiens CANCER,CARDIOVASCULAR,NORMALVARIATION, HTT huntingtin Homo sapiens NEUROLOGICAL,OTHER,PSYCH,UNKNOWN, INHA inhibin, alpha Homo sapiens REPRODUCTION, INPP1 inositol polyphosphate-1-phosphatase Homo sapiens METABOLIC,PHARMACOGENOMIC,PSYCH, IMPA2 inositol(myo)-1(or 4)-monophosphatase 2 Homo sapiens NEUROLOGICAL,PSYCH, ITGAV integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51) Homo sapiens HEMATOLOGICAL,IMMUNE, IL2 interleukin 2 Homo sapiens AGING,CANCER,CARDIOVASCULAR,IMMUNE,INFECTION,NEUROLOGICAL,NORMALVARIATION,OTHER,PSYCH,RENAL,REPRODUCTION,UNKNOWN, IL21 interleukin 21 Homo sapiens IMMUNE, IL3 interleukin 3 (colony-stimulating factor, multiple) Homo sapiens IMMUNE,INFECTION,OTHER,PSYCH, KLKB1 kallikrein B, plasma (Fletcher factor) 1 Homo sapiens CARDIOVASCULAR, LMAN1 lectin, mannose-binding, 1 Homo sapiens CARDIOVASCULAR,IMMUNE,INFECTION,NEUROLOGICAL,OTHER, LBP lipopolysaccharide binding protein Homo sapiens CARDIOVASCULAR,IMMUNE,INFECTION, LRPAP1 low density lipoprotein receptor-related protein associated protein 1 Homo sapiens CARDIOVASCULAR,METABOLIC,NEUROLOGICAL,NORMALVARIATION,OTHER, LRP2 low density lipoprotein-related protein 2 Homo sapiens NORMALVARIATION,PHARMACOGENOMIC, LOX lysyl oxidase Homo sapiens CARDIOVASCULAR,NEUROLOGICAL,OTHER, MED15 mediator complex subunit 15 Homo sapiens PSYCH, MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1 Homo sapiens PSYCH, MC2R melanocortin 2 receptor (adrenocorticotropic hormone) Homo sapiens METABOLIC, MC4R melanocortin 4 receptor Homo sapiens METABOLIC,NORMALVARIATION,PSYCH, MC5R melanocortin 5 receptor Homo sapiens METABOLIC,PSYCH, MAPT microtubule-associated protein tau Homo sapiens DEVELOPMENTAL,NEUROLOGICAL,OTHER,PSYCH,UNKNOWN, MUC3A mucin 3B, cell surface associated; similar to Mucin-3A precursor (Intestinal mucin-3A); mucin 3A, cell surface associated; similar to mucin 3 Homo sapiens IMMUNE, MBP myelin basic protein Homo sapiens IMMUNE,INFECTION,RENAL, MYH11 myosin, heavy chain 11, smooth muscle Homo sapiens CANCER, MSTN myostatin Homo sapiens AGING,NORMALVARIATION, MYOZ2 myozenin 2 Homo sapiens CARDIOVASCULAR, NEDD4L neural precursor cell expressed, developmentally down-regulated 4-like Homo sapiens CARDIOVASCULAR,RENAL, NF2 neurofibromin 2 (merlin) Homo sapiens CANCER,NEUROLOGICAL,OTHER, NEFH neurofilament, heavy polypeptide Homo sapiens NEUROLOGICAL, NPTX2 neuronal pentraxin II Homo sapiens PSYCH, NPSR1 neuropeptide S receptor 1 Homo sapiens IMMUNE, NFATC1 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 Homo sapiens CARDIOVASCULAR, OR13G1 olfactory receptor, family 13, subfamily G, member 1 Homo sapiens CARDIOVASCULAR, PI4KA phosphatidylinositol 4-kinase, catalytic, alpha Homo sapiens PSYCH, PLCG1 phospholipase C, gamma 1 Homo sapiens IMMUNE,PSYCH, PARP1 poly (ADP-ribose) polymerase 1 Homo sapiens AGING,CANCER,IMMUNE,METABOLIC,NEUROLOGICAL,PHARMACOGENOMIC,RENAL,VISION, PSEN2 presenilin 2 (Alzheimer disease 4) Homo sapiens NEUROLOGICAL,PSYCH, PDCD1LG2 programmed cell death 1 ligand 2 Homo sapiens IMMUNE, P4HA2 prolyl 4-hydroxylase, alpha polypeptide II Homo sapiens IMMUNE, PRKAB2 protein kinase, AMP-activated, beta 2 non-catalytic subunit Homo sapiens METABOLIC, PTPN2 protein tyrosine phosphatase, non-receptor type 2 Homo sapiens IMMUNE, PTPRN protein tyrosine phosphatase, receptor type, N Homo sapiens IMMUNE, PTPRT protein tyrosine phosphatase, receptor type, T Homo sapiens CANCER, RELN reelin Homo sapiens PSYCH, RTN4R reticulon 4 receptor Homo sapiens PSYCH, RAX retina and anterior neural fold homeobox Homo sapiens OTHER, STH saitohin Homo sapiens NEUROLOGICAL, SGCE sarcoglycan, epsilon Homo sapiens NEUROLOGICAL,PSYCH, SCG5 secretogranin V (7B2 protein) Homo sapiens METABOLIC, SERPINB10 serpin peptidase inhibitor, clade B (ovalbumin), member 10 Homo sapiens CANCER, SERPINB2 serpin peptidase inhibitor, clade B (ovalbumin), member 2 Homo sapiens REPRODUCTION, SERPINB7 serpin peptidase inhibitor, clade B (ovalbumin), member 7 Homo sapiens RENAL, SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 Homo sapiens AGING,CANCER,CARDIOVASCULAR,DEVELOPMENTAL,HEMATOLOGICAL,IMMUNE,INFECTION,METABOLIC,NEUROLOGICAL,NORMALVARIATION,OTHER,PHARMACOGENOMIC,PSYCH,RENAL,REPRODUCTION,UNKNOWN,VISION, STAT1 signal transducer and activator of transcription 1, 91kDa Homo sapiens INFECTION, STAT4 signal transducer and activator of transcription 4 Homo sapiens IMMUNE, SCN1A sodium channel, voltage-gated, type I, alpha subunit Homo sapiens NEUROLOGICAL,OTHER,PHARMACOGENOMIC, SCN7A sodium channel, voltage-gated, type VII, alpha Homo sapiens CARDIOVASCULAR, SLC1A1 solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 Homo sapiens PSYCH, SLC12A6 solute carrier family 12 (potassium/chloride transporters), member 6 Homo sapiens DEVELOPMENTAL,PSYCH, SLC23A1 solute carrier family 23 (nucleobase transporters), member 1 Homo sapiens REPRODUCTION, SLC25A12 solute carrier family 25 (mitochondrial carrier, Aralar), member 12 Homo sapiens PSYCH, SLC26A5 solute carrier family 26, member 5 (prestin) Homo sapiens OTHER, SLC4A3 solute carrier family 4, anion exchanger, member 3 Homo sapiens NEUROLOGICAL, SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1 Homo sapiens CANCER,IMMUNE,METABOLIC,OTHER, SNAP29 synaptosomal-associated protein, 29kDa Homo sapiens PSYCH, SNCAIP synuclein, alpha interacting protein Homo sapiens NEUROLOGICAL, TAC1 tachykinin, precursor 1 Homo sapiens IMMUNE,OTHER, TXNRD2 thioredoxin reductase 2 Homo sapiens CANCER, TYMP thymidine phosphorylase Homo sapiens NEUROLOGICAL, TYMS thymidylate synthetase Homo sapiens CANCER,DEVELOPMENTAL,IMMUNE,METABOLIC,NEUROLOGICAL,NORMALVARIATION,OTHER,PHARMACOGENOMIC, TFPI tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) Homo sapiens CARDIOVASCULAR,HEMATOLOGICAL,METABOLIC, TFPI2 tissue factor pathway inhibitor 2 Homo sapiens CANCER,CARDIOVASCULAR, TLR3 toll-like receptor 3 Homo sapiens IMMUNE,INFECTION, TLR5 toll-like receptor 5 Homo sapiens CANCER,IMMUNE,INFECTION, TFR2 transferrin receptor 2 Homo sapiens CANCER,HEMATOLOGICAL,IMMUNE,METABOLIC, TGM2 transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase) Homo sapiens IMMUNE, TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator Homo sapiens CARDIOVASCULAR,DEVELOPMENTAL,IMMUNE,METABOLIC,NORMALVARIATION, TP53BP2 tumor protein p53 binding protein, 2 Homo sapiens CANCER, UFD1L ubiquitin fusion degradation 1 like (yeast) Homo sapiens PSYCH, VLDLR very low density lipoprotein receptor Homo sapiens METABOLIC,NEUROLOGICAL,PSYCH,VISION, WNT10A wingless-type MMTV integration site family, member 10A Homo sapiens DEVELOPMENTAL, WNT6 wingless-type MMTV integration site family, member 6 Homo sapiens DEVELOPMENTAL, XIRP2 xin actin-binding repeat containing 2 Homo sapiens IMMUNE,PSYCH, XYLT1 xylosyltransferase I Homo sapiens IMMUNE,RENAL, ZNF74 zinc finger protein 74 Homo sapiens PSYCH, ZDHHC8 zinc finger, DHHC-type containing 8 Homo sapiens PSYCH,