|
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 |
| Colorectal Cancer |
Colorectal cancer |
N/A |
N/A |
GWAS |
| Diabetes |
Type 2 diabetes or prostate cancer (pleiotropy), Type 2 diabetes |
N/A |
N/A |
GWAS |
| Metabolic Syndrome |
Metabolic syndrome |
N/A |
N/A |
GWAS |
| Neuroticism |
Neuroticism |
N/A |
N/A |
GWAS |
| Prostate cancer |
Prostate cancer |
N/A |
N/A |
GWAS |
| Sarcoidosis |
Sarcoidosis |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Atherosclerosis |
Associate
|
29771377, 33759281 |
| Autoimmune Diseases |
Associate
|
29771377 |
| Bethlem myopathy |
Associate
|
36862922 |
| Breast Neoplasms |
Associate
|
25913416, 35421923 |
| Breast Neoplasms |
Inhibit
|
32601196, 35094653, 35112997 |
| Carcinogenesis |
Associate
|
35421923, 36908851 |
| Carcinoma Non Small Cell Lung |
Associate
|
31113460 |
| Carcinoma Renal Cell |
Associate
|
40171812 |
| Carcinoma Small Cell |
Associate
|
35421923 |
| Carcinoma Squamous Cell |
Inhibit
|
33896245 |
| Cardiovascular Diseases |
Associate
|
36785792 |
| Cell Transformation Neoplastic |
Inhibit
|
32601196 |
| Colorectal Neoplasms |
Inhibit
|
30664186, 37711058 |
| Colorectal Neoplasms |
Associate
|
32221048, 33142236, 33893082 |
| Coronary Artery Disease |
Associate
|
31861407 |
| Endometrial Neoplasms |
Associate
|
36232772 |
| Endometriosis |
Associate
|
38115253 |
| Epilepsy rolandic with paroxysmal exercise induced dystonia and writer's cramp |
Associate
|
31469403 |
| Esophageal Neoplasms |
Associate
|
36204878 |
| Fasciculation |
Associate
|
31116797 |
| Fibrosis |
Associate
|
36142381 |
| Fuchs' Endothelial Dystrophy |
Associate
|
28118661, 28886202, 31469403 |
| Heredodegenerative Disorders Nervous System |
Associate
|
22252896 |
| Huntington Disease |
Associate
|
21247881, 24377303 |
| Hypoxia |
Associate
|
36785792 |
| Idiopathic Pulmonary Fibrosis |
Associate
|
38035073 |
| Inflammation |
Associate
|
36142381 |
| Leukemia Myeloid Acute |
Associate
|
22581002 |
| Muscular Dystrophy Duchenne |
Associate
|
36619896 |
| Myocardial Infarction |
Associate
|
36785792 |
| Myotonia |
Associate
|
28535287 |
| Myotonic Dystrophy |
Associate
|
11433021, 15546872, 16487687, 16920640, 16946708, 17306536, 17846170, 17942744, 19095965, 19864209, 20071745, 21454535, 21768123, 21794030, 22218462, 22300544, 23166594, 23423380, 23480597, 23949219, 24376746, 24377303, 24440524, 24781112, 24938413, 25593321, 25702800, 27010216, 27222292, 28535287, 28886202, 29334465, 29771377, 29947794, 30730308, 31116797, 31981476, 32407311, 32683410, 33530452, 34312665, 34520479, 35213019, 36222125, 36555788, 36631509, 39326259, 39383229 View all (33 more) |
| Neoplasm Metastasis |
Inhibit
|
30664186, 32601196, 33896245, 36908851, 40171812 |
| Neoplasm Metastasis |
Associate
|
32576660, 36204878 |
| Neoplasms |
Associate
|
25908786, 27197215, 28489605, 29592900, 29771377, 36217202 |
| Neoplasms |
Inhibit
|
32601196, 33893082, 33896245, 35094653, 35112997, 36908851, 37711058 |
| Oculopharyngodistal Myopathy |
Associate
|
33693509 |
| Pancreatic Neoplasms |
Inhibit
|
36908851 |
| Prostatic Neoplasms |
Associate
|
33648424 |
| Pyloric Stenosis Hypertrophic |
Associate
|
22306654 |
| Sezary Syndrome |
Associate
|
28489605 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
34805417 |
| Stomach Neoplasms |
Associate
|
35421923 |
| Tissue Adhesions |
Associate
|
34968168 |
| Triple Negative Breast Neoplasms |
Inhibit
|
32601196 |
| Urinary Bladder Neoplasms |
Associate
|
31769229 |
|