|
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, Type 2 diabetes or prostate cancer (pleiotropy), Type 2 diabetes with neurological manifestations (PheCode 250.24), Type 2 diabetes mellitus or coronary artery disease (pleiotropy) |
N/A |
N/A |
GWAS |
| Hypertension |
High blood pressure / hypertension, Hypertension (PheCode 401), Essential hypertension (PheCode 401.1) |
N/A |
N/A |
GWAS |
| Insomnia |
Insomnia |
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 |
| Acromegaly |
Associate
|
34334589 |
| Adrenal Gland Diseases |
Associate
|
28931750 |
| Adrenal Hyperplasia Congenital |
Associate
|
1325608 |
| Amyotrophic Lateral Sclerosis |
Associate
|
26198021 |
| Attention Deficit Disorder with Hyperactivity |
Associate
|
36151371 |
| Birth Weight |
Associate
|
21917634 |
| Bone Diseases |
Associate
|
33852173 |
| Carcinoma Renal Cell |
Inhibit
|
39273671 |
| Cardiomyopathies |
Associate
|
35123462 |
| Cardiovascular Diseases |
Associate
|
20470376, 29765988, 34426508 |
| Cardiovascular Diseases |
Stimulate
|
31974732 |
| Congenital Hyperinsulinism |
Associate
|
25444530 |
| Coronary Artery Disease |
Associate
|
29765988, 31974732, 34426508, 40135555 |
| Cushing Syndrome |
Associate
|
1325608, 19581669, 28931750 |
| Death |
Stimulate
|
31974732 |
| Diabetes Gestational |
Associate
|
21300845 |
| Diabetes Mellitus |
Associate
|
29765988, 36151371 |
| Diabetes Mellitus Type 1 |
Associate
|
40122442 |
| Diabetes Mellitus Type 2 |
Inhibit
|
17715056 |
| Diabetes Mellitus Type 2 |
Associate
|
19254363, 20374430, 20673334, 22237064, 24086540, 27042274, 27623947, 28073779, 28566273, 29358691, 31330984, 32390941, 33721395, 34426508, 34505161, 38049854 View all (1 more) |
| Embolism Fat |
Associate
|
25324507 |
| Fatty Liver |
Associate
|
19141695, 32069846 |
| Glomerulonephritis |
Associate
|
8278382 |
| Hyperaldosteronism |
Associate
|
28931750 |
| Inflammation |
Stimulate
|
23092914, 27522989 |
| Insulin Resistance |
Associate
|
15383372, 21917634, 22237064, 23092914, 24512489 |
| Insulin Resistance |
Stimulate
|
19332493 |
| Kidney Failure Chronic |
Stimulate
|
8278382 |
| Liver Diseases |
Associate
|
19141695 |
| Liver Failure |
Associate
|
19141695, 32069846 |
| Long QT Syndrome |
Associate
|
29548277 |
| Metabolic Diseases |
Associate
|
19141695 |
| Myocardial Infarction |
Associate
|
31974732 |
| Myocardial Infarction |
Inhibit
|
35123462 |
| Neoplasms |
Stimulate
|
27522989 |
| Neoplasms Adipose Tissue |
Associate
|
34426508 |
| Non alcoholic Fatty Liver Disease |
Associate
|
19141695 |
| Obesity |
Associate
|
15383372, 18054552, 19141695, 19254363, 19332493, 21106708, 22237064, 24512489, 25324507, 29765988, 32069846, 34620218 |
| Obesity |
Inhibit
|
27465935 |
| Obesity Abdominal |
Associate
|
25324507 |
| Overnutrition |
Associate
|
22237064 |
| Pancreatic Neoplasms |
Associate
|
34446852 |
| Prader Willi Syndrome |
Associate
|
17666087 |
| Renal Insufficiency Chronic |
Associate
|
8278382 |
| ST Elevation Myocardial Infarction |
Inhibit
|
35123462 |
|