|
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 |
| Psoriasis |
Psoriasis |
N/A |
N/A |
GWAS |
| Rheumatoid arthritis |
Rheumatoid arthritis |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Alzheimer Disease |
Associate
|
12716059, 21838211, 24735980, 27872486, 33633844, 39192218 |
| Alzheimer Disease |
Stimulate
|
17331188, 21838211, 32566665 |
| Atrial Fibrillation |
Associate
|
23863953, 34198460 |
| Breast Neoplasms |
Inhibit
|
33742056 |
| Carcinogenesis |
Associate
|
33827593, 39245738 |
| Carcinoma Hepatocellular |
Associate
|
39192218 |
| Carcinoma Ovarian Epithelial |
Associate
|
19331211 |
| Cardiomegaly |
Associate
|
23863953 |
| Cardiovascular Diseases |
Associate
|
39192218 |
| Carotid Body Tumor |
Associate
|
30967136 |
| Colorectal Neoplasms |
Associate
|
17565986, 25379721 |
| Colorectal Neoplasms |
Inhibit
|
33827593 |
| Disease |
Associate
|
16627481 |
| Down Syndrome |
Associate
|
15264020, 19331211, 19597142, 23830204, 24184606, 24735980, 25144594, 33633844, 39192218 |
| Down Syndrome |
Stimulate
|
18485898, 19036088, 36429004 |
| Endometrial Neoplasms |
Associate
|
20008143 |
| Glioma |
Associate
|
37918583 |
| Huntington Disease |
Associate
|
38066314 |
| Inflammation |
Associate
|
15016650, 16627481, 33231770 |
| Inflammation |
Inhibit
|
17062574 |
| Leukemia |
Associate
|
23185487, 26102033 |
| Lymphatic Metastasis |
Inhibit
|
33827593 |
| Malformations of Cortical Development Group I |
Associate
|
27861892 |
| Mouth Neoplasms |
Stimulate
|
39245738 |
| Myopathy with Giant Abnormal Mitochondria |
Associate
|
27861892 |
| Neoplasm Metastasis |
Inhibit
|
19306109 |
| Neoplasm Metastasis |
Associate
|
28631570, 39809174 |
| Neoplasms |
Inhibit
|
16627481, 28631570, 39809174 |
| Neoplasms |
Associate
|
18840614, 19306109, 25379721, 33827593, 34272844, 39192218 |
| Nerve Degeneration |
Associate
|
27872486, 38066314 |
| Obesity |
Associate
|
25379721 |
| Periodontal Diseases |
Associate
|
27403036 |
| Pneumococcal Infections |
Associate
|
28576759 |
| Small Cell Lung Carcinoma |
Associate
|
28631570 |
| Stomach Neoplasms |
Associate
|
39809174 |
| Thyroid Neoplasms |
Inhibit
|
19306109 |
| Wounds and Injuries |
Associate
|
35837786 |
|