|
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 |
| Cirrhosis |
Cirrhosis |
N/A |
N/A |
GWAS |
| Diabetes |
Type 2 diabetes with ophthalmic manifestations (PheCode 250.23), Type 2 diabetes, Type 2 diabetes (PheCode 250.2), Type 2 diabetes mellitus or coronary artery disease (pleiotropy) |
N/A |
N/A |
GWAS |
| Non-alcoholic Fatty Liver Disease |
Nonalcoholic steatohepatitis |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma of Lung |
Associate
|
33057152 |
| Alzheimer Disease |
Associate
|
33271327 |
| Amyotrophic Lateral Sclerosis |
Associate
|
29134320, 37011198 |
| Arthritis Rheumatoid |
Associate
|
16260763 |
| Breast Neoplasms |
Associate
|
36722268 |
| Burkitt Lymphoma |
Associate
|
9878621 |
| CADASIL |
Associate
|
14714274 |
| Carcinogenesis |
Associate
|
31039132, 32059763, 33287884, 35194031 |
| Carcinoma Hepatocellular |
Associate
|
28231410, 30153342, 33297932, 33524497, 34656649 |
| Carcinoma Squamous Cell |
Associate
|
27186987, 36516959 |
| Cardiovascular Diseases |
Associate
|
35848884 |
| Colorectal Neoplasms |
Associate
|
19734850, 36895014 |
| COVID 19 |
Associate
|
33299552 |
| Diabetes Mellitus |
Associate
|
34656649 |
| Fibrosis |
Associate
|
34656649 |
| Glioblastoma |
Associate
|
28035070, 35049227 |
| Glioma |
Associate
|
28035070 |
| Hyperlipidemias |
Associate
|
32568739 |
| Liver Cirrhosis Alcoholic |
Associate
|
34656649 |
| Liver Diseases Alcoholic |
Associate
|
30589442 |
| Lupus Erythematosus Discoid |
Associate
|
34083207 |
| Lupus Erythematosus Systemic |
Associate
|
15880830, 34083207 |
| Lymphoma Large B Cell Diffuse |
Associate
|
33749163 |
| Neoplasm Metastasis |
Associate
|
32879091 |
| Neoplasms |
Associate
|
24410894, 27186987, 27606879, 30153342, 31039132, 32332164, 32728046, 32879091, 33057152, 33297932, 35848884, 36459648, 36681772, 37977822, 39392600, 39511334 View all (1 more) |
| Neoplasms |
Inhibit
|
33311452 |
| Neurodegenerative Diseases |
Associate
|
28467899, 30937520 |
| Neurologic Manifestations |
Associate
|
35848884 |
| Neuromuscular Diseases |
Associate
|
37011198 |
| Non alcoholic Fatty Liver Disease |
Associate
|
33105679, 34558842 |
| Osteoarthritis |
Associate
|
36641761 |
| Parkinson Disease |
Associate
|
33271327 |
| Periodontitis |
Associate
|
34285922 |
| Precursor B Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
36875548 |
| Prostatic Neoplasms |
Associate
|
27102850, 32882325 |
| Sarcoma |
Associate
|
28701145 |
| Stomach Neoplasms |
Associate
|
34413861 |
| Triple Negative Breast Neoplasms |
Associate
|
32724453 |
| Urinary Bladder Neoplasms |
Associate
|
39392600 |
| Vision Disorders |
Associate
|
26325091 |
|