Skip to main content

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)

  Â