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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)