|
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 |
| Alzheimer disease |
Alzheimer's disease or family history of Alzheimer's disease |
N/A |
N/A |
GWAS |
| Diabetes |
Type 2 diabetes |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma |
Stimulate
|
28143584 |
| Astrocytoma |
Associate
|
36714975 |
| Atherosclerosis |
Associate
|
34626801 |
| Breast Neoplasms |
Associate
|
17127214, 25779659 |
| Carcinogenesis |
Associate
|
26425551, 32792860 |
| Carcinoma Hepatocellular |
Associate
|
34498708 |
| Carcinoma Non Small Cell Lung |
Associate
|
24761856, 32046740 |
| Carcinoma Pancreatic Ductal |
Associate
|
35534983 |
| Carcinoma Renal Cell |
Associate
|
26425551 |
| Cardiomyopathies |
Stimulate
|
38025678 |
| Colonic Diseases |
Stimulate
|
28143584 |
| Colorectal Neoplasms |
Associate
|
23203071, 28143584, 32248186 |
| Congenital thrombotic disease due to Protein C deficiency |
Associate
|
32792860 |
| Glioma |
Associate
|
23749504, 26328748, 27764782 |
| Heart Diseases |
Associate
|
34626801 |
| Hemangioblastoma |
Associate
|
9665461 |
| Inflammation |
Associate
|
34626801 |
| Intestinal Diseases |
Associate
|
28536478 |
| Keratitis Herpetic |
Associate
|
22853445 |
| Lung Neoplasms |
Stimulate
|
19116456 |
| Lung Neoplasms |
Associate
|
21081126, 24761856, 32046740 |
| Lymphatic Metastasis |
Associate
|
32156253 |
| Lymphatic Metastasis |
Stimulate
|
34498708 |
| Malaria |
Associate
|
25779659 |
| Metabolic Side Effects of Drugs and Substances |
Associate
|
32046740 |
| Neoplasm Metastasis |
Stimulate
|
32046740 |
| Neoplasm Metastasis |
Associate
|
32248186, 35534983 |
| Neoplasms |
Associate
|
12399545, 16193335, 18359981, 21081126, 23042265, 23749504, 24606760, 25779659, 26328748, 26921194, 28846114, 28958626, 32046740, 33492639 |
| Neoplasms |
Inhibit
|
14623968 |
| Neoplasms |
Stimulate
|
28143584 |
| Nephrosis congenital |
Associate
|
16178871 |
| Nephrotic Syndrome |
Stimulate
|
16178871 |
| Neuroblastoma |
Associate
|
18797883 |
| Ovarian Neoplasms |
Associate
|
18325344, 23042265, 32156253, 34224310 |
| Pancreatic Neoplasms |
Associate
|
32792860, 35534983 |
| Polycystic Ovary Syndrome |
Associate
|
38243290 |
| Stomach Neoplasms |
Associate
|
22468085, 32156253 |
| Uterine Cervical Neoplasms |
Associate
|
28846114 |
| von Hippel Lindau Disease |
Associate
|
9665461 |
|