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Table 4 Selected Human Genes and Disease Phenotype (MeSH counts), positive associations

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

Gene ID

HUGO Gene Sym.

MESH TERM 1

MESH TERM 2

MESH TERM 3

MESH TERM 4

348

APOE

Alzheimer Disease(70)

Coronary Disease(8)

Cardiovascular Diseases(7)

Diabetes Mellitus, Type 2(6)

1636

ACE

Hypertension(47)

Diabetes Mellitus, Type 2(25)

Myocardial Infarction(17)

Coronary Disease(16)

3119

HLA-DQB1

Diabetes Mellitus, Type 1(30)

Papillomavirus Infections(7)

Celiac Disease(6)

Tuberculosis, Pulmonary(5)

1493

CTLA4

Diabetes Mellitus, Type 1(28)

Graves Disease(21)

Thyroiditis, Autoimmune(10)

Autoimmune Diseases(8)

183

AGT

Hypertension(24)

Coronary Disease(6)

Diabetic Nephropathies(5)

Myocardial Infarction(5)

1814

DRD3

Schizophrenia(24)

Dyskinesia, Drug-Induced(6)

Psychotic Disorders(5)

Alcoholism(2)

4846

NOS3

Hypertension(20)

Myocardial Infarction(18)

Coronary Artery Disease(15)

Coronary Disease(12)

3075

CFH

Macular Degeneration(19)

Choroidal Neovascularization(3)

Hemolytic-Uremic Syndrome(2)

Atrophy(2)

3077

HFE

Hemochromatosis(18)

Cardiovascular Diseases(1)

Colorectal Neoplasms(1)

Liver Cirrhosis(1)

3356

HTR2A

Schizophrenia(18)

Alzheimer Disease(4)

Depressive Disorder(4)

Depressive Disorder, Major(4)

1585

CYP11B2

Hypertension(18)

Cardiovascular Diseases(2)

Ventricular Dysfunction, Left(2)

Cardiomyopathy, Dilated(2)

5468

PPARG

Diabetes Mellitus, Type 2(18)

Obesity(11)

Diabetes Mellitus(6)

Insulin Resistance(4)

2784

GNB3

Hypertension(18)

Insulin Resistance(4)

Diabetes Mellitus, Type 2(3)

Obesity(3)

1815

DRD4

Attention Def. Dis. with Hyperact. (17)

Schizophrenia(8)

Substance-Related Disorders(4)

Mood Disorders(4)

1813

DRD2

Alcoholism(17)

Schizophrenia(14)

Personality Disorders(2)

Depressive Disorder(2)

155

ADRB3

Obesity(17)

Diabetes Mellitus, Type 2(9)

Insulin Resistance(6)

Endometrial Neoplasms(2)

9370

ADIPOQ

Diabetes Mellitus, Type 2(17)

Insulin Resistance(11)

Obesity(8)

Hypertension(4)

3123

HLA-DRB1

Arthritis, Rheumatoid(16)

Diabetes Mellitus, Type 1(16)

Multiple Sclerosis(8)

Lupus Erythematosus, Systemic(7)

118

ADD1

Hypertension(16)

Cardiovascular Diseases(3)

Cerebral Hemorrhage(1)

Diabetic Angiopathies(1)

3117

HLA-DQA1

Diabetes Mellitus, Type 1(15)

Graves Disease(4)

Autoimmune Diseases(4)

Celiac Disease(4)

1956

EGFR

Lung Neoplasms(15)

Carcinoma, Non-SC Lung(10)

Adenocarcinoma(6)

Neoplasm Recurrence, Local(3)

6690

SPINK1

Pancreatitis(15)

Chronic Disease(11)

Acute Disease(3)

Pancreatitis, Alcoholic(3)

6934

TCF7L2

Diabetes Mellitus, Type 2(15)

Insulin Resistance(4)

Diabetes Mellitus(2)

Liver Neoplasms(1)

1234

CCR5

HIV Infections(14)

Diabetes Mellitus, Type 2(4)

Diabetic Nephropathies(4)

Asthma(3)

5663

PSEN1

Alzheimer Disease(14)

Down Syndrome(2)

Dementia(1)

Cerebral Amyloid Angiopathy(1)

11132

CAPN10

Diabetes Mellitus, Type 2(14)

Insulin Resistance(3)

Polycystic Ovary Syndrome(2)

Obesity(2)

3553

IL1B

Stomach Neoplasms(14)

Helicobacter Infections(6)

Alzheimer Disease(5)

Periodontitis(3)

6532

SLC6A4

Depressive Disorder, Major(13)

Depressive Disorder(13)

Bipolar Disorder(10)

Alcoholism(8)

4210

MEFV

Familial Mediterranean Fever(13)

Amyloidosis(4)

Behcet Syndrome(3)

Colitis, Ulcerative(2)

3172

HNF4A

Diabetes Mellitus, Type 2(13)

Glucose Intolerance(2)

Birth Weight(1)

Fetal Macrosomia(1)

7157

TP53

Carcinoma, Squamous Cell(13)

Lung Neoplasms(12)

Breast Neoplasms(10)

Carcinoma, Non-SC Lung(9)

672

BRCA1

Breast Neoplasms(12)

Ovarian Neoplasms(5)

Carcinoma, Endometrioid(1)

DNA Damage(1)

185

AGTR1

Hypertension(12)

Myocardial Infarction(3)

Coronary Disease(3)

Pregnancy Comp., Cardiovascular(2)

154

ADRB2

Asthma(12)

Obesity(10)

Hypertension(8)

Diabetes Mellitus, Type 2(4)

3953

LEPR

Obesity(12)

Body Weight(4)

Insulin Resistance(4)

Glucose Intolerance(3)

2169

FABP2

Diabetes Mellitus, Type 2(12)

Insulin Resistance(10)

Obesity(7)

Hyperlipidemias(4)

929

CD14

Asthma(12)

Myocardial Infarction(5)

Arteriosclerosis(4)

Colitis, Ulcerative(4)

26191

PTPN22

Arthritis, Rheumatoid(11)

Diabetes Mellitus, Type 1(9)

Lupus Erythematosus, Systemic(5)

Arthritis, Psoriatic(2)

3596

IL13

Asthma(11)

Hypersensitivity, Immediate(4)

Pulmonary Dis., Chronic Obstr. (4)

Respiratory Hypersensitivity(2)

1080

CFTR

Cystic Fibrosis(10)

Pancreatitis(5)

Chronic Disease(3)

Acute Disease(2)