Skip to main content

Advertisement

Table 7 Selected Human Disease Phenotypes (MeSH) and Gene counts, positive associations

From: Systematic analysis, comparison, and integration of disease based human genetic association data and mouse genetic phenotypic information

Disease Mesh Term Gene Rank 1 Gene Rank 2 Gene Rank 3 Gene Rank 4 Gene Rank 5 Gene Rank 6 Gene Rank 7 Gene Rank 8
DISEASE CLASS - CARDIOVASCULAR         
Hypertension ACE(47) AGT(24) NOS3(20) CYP11B2(18) GNB3(18) ADD1(16) AGTR1(12) ADRB2(8)
Myocardial Infarction NOS3(18) ACE(17) SERPINE1(11) ITGA2(7) LPL(6) APOE(6) GP1BA(5) F7(5)
Coronary Disease ACE(16) NOS3(12) PON1(11) APOB(11) APOE(8) LPL(7) AGT(6) SERPINE1(6)
Coronary Artery Disease NOS3(15) PON1(9) ACE(7) APOA5(6) APOE(5) AGT(4) ABCA1(4) APOA1(4)
Hypertrophy, Left Ventricular ACE(15) GNB3(3) AGTR2(2) EDN1(2) TNNT2(2) NOS3(2) ENPP1(1) ACE2(1)
Venous Thrombosis F5(8) F2(5) SERPINE1(4) MTHFR(3) ABO(2) F8(2) JAK2(2) PROCR(2)
Cardiovascular Diseases APOE(7) CETP(6) ACE(5) NOS3(5) PON1(4) APOA5(4) APOC3(4) SERPINE1(3)
Myocardial Ischemia ACE(6) LPL(5) NOS3(2) ITGB3(2) APOB(2) AGT(1) AGTR1(1) SELPLG(1)
Arteriosclerosis ACE(5) CD14(4) PON1(3) FGB(3) MTHFR(3) NOS3(3) APOE(3) TLR4(2)
Cardiomyopathies TTR(5) HFE(1) APOA1(1) HLADQB1(1) SOD2(1) CCR2(1) SELE(1) MMP9(1)
Heart Failure ADRA2C(5) ADRB1(5) ACE(3) NOS3(3) ADRB2(3) AMPD1(2) SCNN1B(1) EDN1(1)
DISEASE CLASS - DIGESTIVE SYS. DISEASES         
Pancreatitis SPINK1(15) CFTR(5) PRSS1(3) HLA-DRB1(2) HLA-A(1) TLR4(1) UGT1A7(1) KRT8(1)
Cystic Fibrosis CFTR(10) NOS1(2) SERPINA1(2) SPINK1(1) CAPN10(1) SFTPA2(1) GCLC(1) FCGR2A(1)
Celiac Disease HLADQB1(6) CTLA4(6) HLADQA1(4) TNF(2) PTPN22(1) IFNG(1) TIPARP(1) IL21(1)
Crohn Disease IL23R(6) NOD2(5) TNF(5) ABCB1(4) CD14(4) IBD5(3) DLG5(3) MIF(3)
Liver Cirrhosis, Alcoholic ALDH2(6) ACE(1) TNF(1) SOD2(1) ADH1C(1) ADH1B(1) DRD2(1) CYP2E1(1)
Colitis, Ulcerative ABCB1(5) IL23R(5) TNF(4) CD14(4) TLR4(3) ICAM1(3) IL1RN(3) CTLA4(3)
Gastritis, Atrophic MPO(3) TLR4(1) IL13(1) PTPN11(1) TNF(1) ABO(1) CMA1(1) IL1B(1)
Inflammatory Bowel Diseases TNF(3) ABCB1(3) IL23R(3) ITPA(2) NOD2(2) DLG5(2) HP(2) PON1(1)
Cholangitis, Sclerosing HLADRB1(2) HP(2) PTPN22(1) MMP1(1) HLADQA1(1) TNF(1) HLADQB1(1) MMP3(1)
DISEASE CLASS - DIS. OF ENVIRONMENTAL ORIGIN         
Alcoholism DRD2(17) OPRM1(9) SLC6A4(8) ALDH2(7) MAOA(6) GABRA2(4) NPY(4) ADH1B(3)
DNA Damage XRCC1(7) TP53(3) CYP1A1(3) GSTM1(3) OGG1(3) LIG4(2) APEX1(2) BRCA2(2)
Substance-Related Disorders SLC6A4(5) OPRM1(5) DRD4(4) DRD5(2) BDNF(2) ADH4(2) CNR1(2) DRD2(2)
Fractures, Bone ESR1(4) ESR2(2) COL1A1(2) CYP19A1(1) IGF1(1) TNFRSF11B(1) P2RX7(1) TGFB1(1)
Tobacco Use Disorder CYP2A6(3) SLC6A3(3) CHRNA4(2) TH(2) BDNF(1) PPP1R1B(1) SLC18A2(1) PTEN(1)
Cocaine-Related Disorders PDYN(2) HOMER1(1) TTC12(1) ANKK1(1) DBH(1) GSTP1(1) OPRM1(1)  
Heroin Dependence OPRM1(2) BDNF(1) OPRD1(1) SLC6A4(1) COMT(1) MAOA(1)   
Spinal Fractures COL1A1(2) CYP19A1(1) TNFRSF11B(1) GC(1) PLXNA2(1) AR(1) NOS3(1)  
DISEASE CLASS - IMMUNE SYSTEM         
Autoimmune Diseases CTLA4(8) HLADQB1(5) HLADRB1(4) HLADQA1(4) PTPN22(2) HLA-A(2) CYP2D6(2) CIITA(2)
Hypersensitivity, Immediate IL4R(8) IL13(4) CD14(4) IL4(2) SERPINE1(2) CCL5(2) NOS2A(2) CTLA4(2)
Graft vs Host Disease IFNG(3) TNF(2) TLR4(1) NOD2(1) HLA-DPB1(1) HLA-A(1) IL10(1) IL1R1(1)
Hypersensitivity IL4(3) STAT6(3) IL4R(2) IFNG(1) IFNGR1(1) TLR2(1) FADS1(1) IL13(1)
Antiphospholipid Syndrome F2(2) SELPLG(1) SERPINE1(1) FCGR2A(1) HLADMA(1)    
Food Hypersensitivity IL4(1) IL4R(1) STAT6(1) IL13(1) HLADQB1(1) CD14(1)   
DISEASE CLASS - MENTAL DISORDERS         
Schizophrenia DRD3(24) HTR2A(18) DRD2(14) COMT(10) HTR2C(8) BDNF(8) DRD4(8) NOTCH4(8)
Attention Deficit Disorder with Hyperactivity DRD4(17) SLC6A3(7) SLC6A4(6) ADRA2A(4) MAOA(3) SNAP25(3) SLC6A2(2) DRD5(2)
Depressive Disorder SLC6A4(13) HTR2A(4) TPH1(3) CYP2D6(2) CYP2C19(2) MAOA(2) BDNF(2) DRD2(2)
Depressive Disorder, Major SLC6A4(13) TPH1(5) HTR2A(4) TPH2(3) BDNF(2) DRD2(2) GNB3(2) DTNBP1(1)
Bipolar Disorder SLC6A4(10) BDNF(6) MAOA(5) COMT(5) XBP1(3) GABRA5(3) HTR2A(3) TPH2(3)
Anxiety Disorders SLC6A4(7) MAOA(3) PLXNA2(1) BDNF(1) DBI(1) MED12(1) GABRB3(1) DRD2(1)
Mood Disorders SLC6A4(5) DRD4(4) CLOCK(2) MAOA(2) BDNF(2) ACE(1) CRH(1) DRD3(1)
Psychotic Disorders DRD3(5) SLC6A4(3) DRD4(3) HTR2A(3) DTNBP1(2) DISC1(2) DRD2(2) MAOA(1)
Obsessive-Compulsive Disorder SLC6A4(4) HTR2A(3) COMT(3) SLC1A1(2) DRD4(2) HTR1B(1) BDNF(1) NRCAM(1)
Panic Disorder CCK(4) HTR1A(2) MAOA(2) HTR2A(2) DBI(1) CCKAR(1) ADORA2A(1) PGR(1)
Cognition Disorders APOE(3) BDNF(3) DRD4(2) COMT(2) HMGCR(1) DTNBP1(1) SLC6A4(1) NQO1(1)
DISEASE CLASS - NERVOUS SYSTEM DISEASES         
Alzheimer Disease APOE(70) PSEN1(14) A2M(10) CYP46A1(8) ACE(7) BCHE(7) IL1A(7) BDNF(6)
Parkinson Disease PARK2(9) LRRK2(9) CYP2D6(7) MAOB(7) BDNF(5) SNCA(5) PON1(4) PINK1(4)
Multiple Sclerosis HLADRB1(8) APOE(5) CTLA4(4) PTPRC(4) MBP(3) HLA-DQB1(3) IFNG(2) CRYAB(2)
Amyotrophic Lateral Sclerosis SOD1(6) PON1(2) PON2(2) VEGFA(2) SMN1(1) MAPT(1) MT-ND5(1) PON3(1)
Brain Ischemia FGB(5) PDE4D(3) NOS3(3) ACE(2) PON1(2) MTHFR(2) ITGB3(2) TLR4(1)
Cerebrovascular Accident NOS3(5) APOE(5) FGB(5) PON1(4) SERPINE1(3) ALOX5AP(3) ACE(2) KL(2)
Carotid Artery Diseases NOS3(4) PON1(3) MTHFR(3) CCL2(2) IL6(2) APOE(2) CD14(2) ACE(1)
Dementia APOE(4) MAPT(3) MT-ND1(1) PRNP(1) PSEN1(1) TNF(1) CDC2(1) IGF1R(1)
DISEASE CLASS - NUTR. AND METABOLIC DISEASES         
Diabetes Mellitus, Type 2 ACE(25) PPARG(18) ADIPOQ(17) TCF7L2(15) CAPN10(14) HNF4A(13) FABP2(12) NOS3(10)
Obesity ADRB3(17) LEPR(12) MC4R(11) PPARG(11) UCP2(11) ADRB2(10) UCP1(8) ADIPOQ(8)
Insulin Resistance ADIPOQ(11) FABP2(10) INSR(7) IRS1(7) ENPP1(7) ADRB3(6) NOS3(6) ACE(5)
Diabetes Mellitus PPARG(6) ACE(3) INS(3) NOS3(3) PON1(2) UBL5(2) IRS1(2) TCF7L2(2)
Hyperlipidemias APOA5(5) FABP2(4) LPL(3) APOE(3) ACE(2) APOA1(2) PPARA(2) PPARG(2)
Hypertriglyceridemia APOC3(5) APOA5(4) LPL(3) APOE(3) ADRB2(2) APOA4(2) GP1BA(1) LTA(1)
Glucose Intolerance LEPR(3) ADIPOQ(3) IGF1(2) KCNJ11(2) PTPN1(2) PPARG(2) HNF4A(2) NEUROG3(1)
Hypercholesterolemia APOA1(3) APOB(3) F12(3) ACE(2) LDLR(2) LPL(2) PCSK9(2) ABCG8(2)
Metabolic Syndrome APOC3(3) UBL5(2) NOS3(2) ACE(1) PPARD(1) NPY5R(1) ACE2(1) RGS2(1)
DISEASE CLASS - EYE DISEASES         
Macular Degeneration CFH(19) APOE(4) PON1(2) C2(1) CFB(1) ABCA1(1) HTRA1(1) MELAS(1)
Diabetic Retinopathy VEGFA(7) AKR1B1(4) PON1(3) RAGE(3) AGER(3) ACE(2) ITGA2(2) ICAM1(2)
Glaucoma CYP1B1(3) OPTN(2) OPA1(2) OPTC(1) EDNRA(1) MYOC(1)   
Ocular Hypertension OPTN(2) CYP1B1(1) OLFM2(1) OPA1(1)     
Cataract GALT(1) AIPL1(1) IFNGR1(1) GCNT2(1)     
Retinal Degeneration NDP(1) GUCA1A(1) AIPL1(1) COL2A1(1) RHO(1) GUCA1B(1) ABCA4(1)  
Myopia HLADPB1(1) LUM(1) COL2A1(1) NYX(1) MYOC(1)