|
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 |
| Cataract |
cataract |
N/A |
N/A |
GenCC |
| Coronary Heart Disease |
Coronary heart disease |
N/A |
N/A |
GWAS |
| Diabetes |
Type 1 diabetes |
N/A |
N/A |
GWAS |
| Endometriosis |
Endometriosis |
N/A |
N/A |
GWAS |
| Glioblastoma |
Glioblastoma |
N/A |
N/A |
GWAS |
| Hyperopia |
Hyperopia |
N/A |
N/A |
GWAS |
| Lung adenocarcinoma |
Familial lung adenocarcinoma |
N/A |
N/A |
GWAS |
| Multiple Sclerosis |
Multiple sclerosis |
N/A |
N/A |
GWAS |
| Prostate cancer |
Prostate cancer |
N/A |
N/A |
GWAS |
| Psoriasis |
Psoriasis |
N/A |
N/A |
GWAS |
| Uterine Fibroids |
Uterine fibroids |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Acute Kidney Injury |
Associate
|
25906147 |
| Alcoholism |
Associate
|
30181378 |
| Aortic Valve Stenosis |
Associate
|
29065134 |
| Carcinoma Pancreatic Ductal |
Associate
|
34587190 |
| Cardiomegaly |
Associate
|
20975995, 29065134, 34156537 |
| Cardiomyopathy Hypertrophic |
Associate
|
29065134 |
| Cardiovascular Diseases |
Associate
|
27023477, 28372594 |
| Cerebral Infarction |
Associate
|
30181378, 34603559 |
| Coronary Artery Disease |
Associate
|
20975995, 27023477, 30181378 |
| Coronary Disease |
Associate
|
24821235 |
| Diabetes Mellitus |
Associate
|
21964580, 25906147, 29172403 |
| Diabetes Mellitus Type 1 |
Associate
|
21270831, 22403184, 22891215, 26053495 |
| Diabetes Mellitus Type 2 |
Associate
|
21964580, 26053495, 34156537 |
| Diabetic Retinopathy |
Associate
|
34156537 |
| Duane Retraction Syndrome |
Associate
|
34156537 |
| Essential Hypertension |
Associate
|
25906147, 30181378 |
| Heart Diseases |
Associate
|
20975995, 25906147 |
| Huntington Disease |
Associate
|
28372594 |
| Hypertension |
Associate
|
21964580, 22812913, 24821235, 25171187, 25531090, 25906147, 34156537, 36789764 |
| Hypertension Pregnancy Induced |
Associate
|
32338092 |
| Hypertensive Retinopathy |
Associate
|
34156537 |
| Hypertrophy Left Ventricular |
Associate
|
20975995, 29065134 |
| Hypoxia |
Associate
|
29065134 |
| Iron Overload |
Associate
|
29065134 |
| Ischemia |
Associate
|
20975995 |
| Kidney Failure Chronic |
Associate
|
27023477, 27577995, 30181378 |
| Lupus Nephritis |
Stimulate
|
26431044 |
| Myocardial Ischemia |
Associate
|
25906147 |
| Pancreatitis |
Associate
|
22403184 |
| Pre Eclampsia |
Associate
|
32338092 |
| Renal Insufficiency Chronic |
Associate
|
25171187, 29172403 |
| Sick Sinus Syndrome |
Stimulate
|
34587190 |
| Stroke |
Associate
|
21964580, 25906147, 34156537 |
| Ventricular Dysfunction |
Associate
|
20975995 |
| Ventricular Dysfunction Left |
Associate
|
20975995 |
|