|
Unknown
Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
|
| Disease merge term |
Disease name |
Evidence |
References |
Source |
| Diabetes |
Type 2 diabetes |
N/A |
N/A |
GWAS |
| Gout |
Gout |
N/A |
N/A |
GWAS |
| Hypertension |
Hypertension, Hypertension (PheCode 401), Essential hypertension (PheCode 401.1) |
N/A |
N/A |
GWAS |
| Metabolic Syndrome |
Metabolic syndrome |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma |
Associate
|
29808834 |
| Adenocarcinoma of Lung |
Inhibit
|
37848457, 37985446 |
| Adenoma |
Inhibit
|
24599561, 36482184 |
| Adenomatous Polyposis Coli |
Associate
|
36923554 |
| Alcohol Related Disorders |
Associate
|
35670037 |
| Alcoholism |
Associate
|
15679538, 18322963, 22048268, 23134043, 23134050, 24553426, 26284938, 26644136, 28158658, 30482948, 30629674, 35633389, 36028843, 37378938 |
| Alzheimer Disease |
Associate
|
27808372 |
| Anemia Macrocytic |
Associate
|
28158658 |
| Asthma |
Associate
|
23148572, 30209858 |
| Atrial Fibrillation |
Associate
|
27927211 |
| Binge Drinking |
Associate
|
33893496, 36028843 |
| Breast Neoplasms |
Associate
|
17295732, 22331481, 32300124 |
| Breast Neoplasms |
Inhibit
|
31292488 |
| Carcinogenesis |
Associate
|
24282520, 28824723 |
| Carcinoma Hepatocellular |
Associate
|
18439068, 2167445, 2295648, 29600553, 30720105, 33287761 |
| Carcinoma Non Small Cell Lung |
Associate
|
29808834 |
| Carcinoma Pancreatic Ductal |
Associate
|
32439797 |
| Carcinoma Squamous Cell |
Associate
|
18322963, 27038040 |
| Carcinoma Squamous Cell |
Inhibit
|
37985446 |
| Cerebral Hemorrhage |
Associate
|
32107439 |
| Colonic Neoplasms |
Associate
|
34564978 |
| Colonic Neoplasms |
Inhibit
|
36482184 |
| Colorectal Neoplasms |
Associate
|
17517051, 18763293, 24282520, 27706775, 28962550, 31137244, 36482184 |
| Colorectal Neoplasms |
Inhibit
|
24599561 |
| Congenital Hypothyroidism |
Associate
|
30629674 |
| Coronary Artery Disease |
Associate
|
25047496, 40026415 |
| Crohn Disease |
Associate
|
35872023 |
| Depressive Disorder |
Associate
|
30482948 |
| Digestive System Neoplasms |
Associate
|
21437268 |
| Drug Hypersensitivity |
Associate
|
30209858 |
| Endometrial Neoplasms |
Stimulate
|
36702668 |
| Endometriosis |
Associate
|
36702668 |
| Esophageal Neoplasms |
Associate
|
16127737, 16235983, 17963305, 19452585, 22292652, 22703580, 22930414, 23134043, 28158658, 33132654, 35048370, 35670037, 40156023 |
| Esophageal Squamous Cell Carcinoma |
Associate
|
16127737, 18322963, 19826048, 21926110, 22292652, 24722735, 26873401, 27038040, 30639619 |
| Esophageal Squamous Cell Carcinoma |
Inhibit
|
19826048 |
| Fetal Alcohol Spectrum Disorders |
Stimulate
|
37510297 |
| Fowler Christmas Chapple syndrome |
Associate
|
27038040 |
| Gout |
Associate
|
28566767 |
| Hashimoto Disease |
Associate
|
37324256 |
| Head and Neck Neoplasms |
Associate
|
25770642, 35048370, 36028843 |
| Heart Diseases |
Associate
|
29016726, 35633389 |
| Hemolytic Uremic Syndrome |
Associate
|
24358217 |
| Hemorrhagic Stroke |
Associate
|
34051793 |
| Hypertension |
Associate
|
23615284 |
| Hypopharyngeal Neoplasms |
Associate
|
36261585 |
| Idiopathic Noncirrhotic Portal Hypertension |
Associate
|
29695616 |
| Insulin Resistance |
Associate
|
25830378, 33479282 |
| Keratoacanthoma |
Associate
|
25676557 |
| Laryngeal Neoplasms |
Associate
|
27689323, 35670037 |
| Leukopenia |
Associate
|
28158658 |
| Liver Cirrhosis Alcoholic |
Associate
|
37378938 |
| Liver Diseases |
Associate
|
22048268 |
| Liver Diseases Alcoholic |
Associate
|
26937962 |
| Lung Neoplasms |
Associate
|
28236470, 30177858 |
| Lymphatic Metastasis |
Associate
|
34155937 |
| Malignant mesenchymal tumor |
Inhibit
|
36482184 |
| Mesothelioma Malignant |
Associate
|
36523602 |
| Multiple Myeloma |
Associate
|
35053305 |
| Nemaline myopathy 5 |
Inhibit
|
36482184 |
| Neoplasm Metastasis |
Associate
|
37985446 |
| Neoplasms |
Inhibit
|
18500343, 33807717, 37848457 |
| Neoplasms |
Associate
|
18500343, 21940907, 25770642, 26992901, 32880385, 35048370, 35280985, 35670037, 36261585, 36482184, 37985446 |
| Neoplasms Second Primary |
Associate
|
25770642 |
| Non alcoholic Fatty Liver Disease |
Associate
|
29718361, 32454036 |
| Obesity |
Associate
|
25830378, 31046077 |
| Obesity |
Inhibit
|
33479282 |
| Ovarian Diseases |
Associate
|
32880385 |
| Ovarian Neoplasms |
Associate
|
24756370, 31689861 |
| Pancreatic Neoplasms |
Associate
|
19068087, 35670037 |
| Pancreatitis |
Associate
|
34267279 |
| Pulmonary Disease Chronic Obstructive |
Associate
|
24188068 |
| Renal Insufficiency Chronic |
Associate
|
24358217 |
| Schizophrenia |
Associate
|
30482948 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
17489985, 21940907, 22052802, 25874489, 34546328 |
| Stomach Neoplasms |
Associate
|
28002588, 28586067, 29166882, 34155937, 34686626 |
| Stroke |
Associate
|
22155604, 30955975 |
| Substance Related Disorders |
Associate
|
37796845 |
| Thyroid Cancer Papillary |
Associate
|
37324256 |
| Triple Negative Breast Neoplasms |
Associate
|
39529035 |
| Tuberculosis |
Associate
|
24690209 |
| Urinary Bladder Neoplasms |
Associate
|
26992901 |
| Ventricular Remodeling |
Associate
|
29016726 |
|