|
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 |
| Huntington Disease |
Huntington's disease progression |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Carcinoma Non Small Cell Lung |
Associate
|
30290240 |
| Cardiovascular Diseases |
Associate
|
31760884 |
| Cerebral Hemorrhage |
Associate
|
21339657 |
| Cognitive Dysfunction |
Associate
|
19274077 |
| Colorectal Neoplasms |
Associate
|
25816007 |
| Coronary Artery Disease |
Associate
|
18657677, 35866398 |
| Death |
Associate
|
18657677 |
| Diabetes Mellitus |
Associate
|
30062972 |
| Essential Hypertension |
Associate
|
10720960, 11710759, 12427140, 15608390, 23509723, 23691048, 24718403, 28686109, 29049185, 30062972, 32555714, 39352780, 9582105, 9607177 |
| Gastroschisis |
Associate
|
27616475 |
| Heart Failure |
Associate
|
18279468 |
| Hyperlipidemias |
Associate
|
35866398 |
| Hypertension |
Associate
|
11728946, 12427140, 15055253, 15097233, 15608390, 18398333, 18657677, 19148102, 23509723, 30062972, 38573093, 39352780, 9582105, 9607177 |
| Hypotension |
Associate
|
27940662 |
| Kidney Diseases |
Associate
|
11918733, 39352780 |
| Kidney Failure Chronic |
Associate
|
11918733 |
| Lung Neoplasms |
Associate
|
26279304 |
| Malignant hyperthermia susceptibility type 1 |
Associate
|
9607177 |
| Neoplasm Metastasis |
Associate
|
26279304 |
| Post Exercise Hypotension |
Associate
|
27940662 |
| Pulmonary Arterial Hypertension |
Associate
|
38573093 |
| Smoke Inhalation Injury |
Associate
|
35866398 |
| Stomach Neoplasms |
Associate
|
25816007 |
| Stroke |
Associate
|
18657677 |
| Tinnitus |
Associate
|
27340988 |
| Voice Disorders |
Associate
|
30062972 |
| Wolf Hirschhorn Syndrome |
Associate
|
22438245 |
|