|
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 |
| Coronary artery disease |
Coronary artery disease |
N/A |
N/A |
GWAS |
| Diabetes |
Type 2 diabetes (PheCode 250.2), Type 2 diabetes with neurological manifestations (PheCode 250.24), Type 2 diabetes mellitus or coronary artery disease (pleiotropy), Type 2 diabetes |
N/A |
N/A |
GWAS |
| Heart Failure |
Heart failure |
N/A |
N/A |
GWAS |
| Hypertension |
Hypertension, High blood pressure / hypertension |
N/A |
N/A |
GWAS |
| Insomnia |
Insomnia |
N/A |
N/A |
GWAS |
| Metabolic Syndrome |
Metabolic syndrome |
N/A |
N/A |
GWAS |
| Myocardial Infarction |
Myocardial infarction |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma |
Associate
|
28787442 |
| Adenocarcinoma Follicular |
Associate
|
32719445 |
| Adenocarcinoma of Lung |
Associate
|
28381175, 35860262, 36650118, 36737405, 37047493 |
| Breast Neoplasms |
Associate
|
22266909, 29669595, 33469161, 33629308, 34707800, 36632454, 36647722 |
| Calcinosis Cutis |
Stimulate
|
29369405 |
| Carcinogenesis |
Associate
|
36308276 |
| Carcinoma Hepatocellular |
Associate
|
26547929, 28244848, 28677801, 28975985, 37024475, 37137887, 37891494, 37926706, 38048735 |
| Carcinoma Non Small Cell Lung |
Associate
|
28381175, 36074102, 36672208 |
| Carcinoma Pancreatic Ductal |
Associate
|
32545414 |
| Carcinoma Renal Cell |
Associate
|
26332146, 36516496 |
| Carcinoma Renal Cell |
Stimulate
|
36691477 |
| Colonic Neoplasms |
Associate
|
21252116 |
| Colorectal Neoplasms |
Associate
|
21252116, 30569605, 32369483, 34203267, 37194014 |
| Crohn Disease |
Associate
|
36595818 |
| Diabetes Mellitus |
Associate
|
31615341 |
| Diabetic Angiopathies |
Associate
|
37009154 |
| Endometrial Neoplasms |
Stimulate
|
33391523 |
| Endometrial Neoplasms |
Associate
|
34190193, 34347888, 35188885 |
| Endometriosis |
Stimulate
|
37095705 |
| Esophageal Squamous Cell Carcinoma |
Associate
|
37264021 |
| Fibrolamellar hepatocellular carcinoma |
Associate
|
28486549 |
| Fragile X Syndrome |
Associate
|
17289661 |
| Glioblastoma |
Associate
|
36308276 |
| Glioma |
Associate
|
31104065, 36308276 |
| Granulosa Cell Tumor |
Associate
|
36182806 |
| Growth Disorders |
Associate
|
32034166 |
| HAIR AN syndrome |
Associate
|
38269483 |
| Hypoglycemia |
Associate
|
32034166 |
| Hypoxia Brain |
Associate
|
33469161 |
| Inflammation |
Associate
|
35722625, 37095705 |
| Insulin Resistance |
Associate
|
27477082 |
| Leiomyoma |
Associate
|
35639702 |
| Lung Neoplasms |
Associate
|
34895045, 36650118 |
| Melanoma |
Associate
|
21981993, 25414259, 30543563 |
| Melanoma |
Stimulate
|
29369405 |
| Melanoma Cutaneous Malignant |
Associate
|
35722625 |
| Myocardial Infarction |
Associate
|
36061306 |
| Neoplasm Metastasis |
Inhibit
|
22266909, 36722215 |
| Neoplasm Metastasis |
Associate
|
28975985, 30220021, 37004067 |
| Neoplasm Metastasis |
Stimulate
|
36632454 |
| Neoplasms |
Associate
|
15355996, 21252116, 22266909, 22279049, 23677615, 26332146, 26547929, 28787442, 33391523, 34203267, 34437390, 34707800, 34895045, 36074102, 36672208, 36722215, 37336938, 39512352 View all (3 more) |
| Neoplasms |
Stimulate
|
15769738, 28486549 |
| Neoplasms |
Inhibit
|
26917013 |
| Obesity |
Associate
|
27762626 |
| Osteoporosis |
Associate
|
32034166 |
| Osteosarcoma |
Associate
|
30220021, 35918761 |
| Ovarian Neoplasms |
Associate
|
21618519, 24872956, 36245227 |
| Sarcoma |
Associate
|
33370249 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
39512352 |
| Stomach Neoplasms |
Associate
|
35977935 |
| Thyroid Carcinoma Anaplastic |
Associate
|
32719445 |
| Tuberculosis Multidrug Resistant |
Associate
|
21618519 |
| Uterine Cervical Neoplasms |
Associate
|
35777046, 37004067 |
| Uveal melanoma |
Associate
|
36003405 |
| Wilms Tumor |
Associate
|
36722215 |
|