|
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 |
| Myotonic dystrophy |
myotonic dystrophy type 2 |
N/A |
N/A |
GenCC |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Astrocytoma |
Stimulate
|
17052361 |
| CANVAS syndrome |
Associate
|
40113266 |
| Central Nervous System Diseases |
Associate
|
35633176 |
| Chemical and Drug Induced Liver Injury |
Associate
|
29106686 |
| Diabetes Mellitus |
Associate
|
18654640 |
| Endometrial Neoplasms |
Associate
|
33577023 |
| Frontotemporal Dementia |
Associate
|
37146135 |
| Glioblastoma |
Associate
|
27378817 |
| Heredodegenerative Disorders Nervous System |
Associate
|
35633176 |
| Insulin Resistance |
Associate
|
18654640 |
| Liver Diseases |
Associate
|
29106686 |
| Lupus Erythematosus Systemic |
Associate
|
23642268 |
| Metabolic Diseases |
Associate
|
27378817 |
| Mevalonate Kinase Deficiency |
Associate
|
27377765 |
| Muscular Dystrophies |
Associate
|
23285195 |
| Myotonic Dystrophy |
Associate
|
12970845, 14505273, 15114529, 16376058, 17825047, 19218442, 20174632, 20616365, 21232131, 21889481, 22332444, 22643181, 24722564, 24907641, 24938413, 27222292, 27346023, 28130447, 29291944, 29651162, 31981476, 34024776, 34101465, 35945246, 36018009, 40113266 View all (11 more) |
| Myotonic Dystrophy |
Inhibit
|
19605641 |
| Myotonic Dystrophy |
Stimulate
|
19683984 |
| Neoplasms |
Associate
|
27378817, 37885013 |
| Neuroblastoma |
Associate
|
37186134 |
| Neurodegenerative Diseases |
Associate
|
35633176 |
| Obesity |
Associate
|
27467133 |
| Prostatic Neoplasms |
Associate
|
25720493, 32258129 |
|