|
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 |
| Diabetes |
Type 2 diabetes |
N/A |
N/A |
GWAS |
| Rheumatoid arthritis |
Rheumatoid arthritis |
N/A |
N/A |
GWAS |
| Systemic lupus erythematosus |
Systemic lupus erythematosus |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Arthritis Rheumatoid |
Stimulate
|
2292594 |
| Brain Neoplasms |
Associate
|
23508638 |
| Carcinogenesis |
Associate
|
15649253, 26291246 |
| Carcinoma |
Associate
|
22648906 |
| Carcinoma Endometrioid |
Associate
|
29250656 |
| Carcinoma Hepatocellular |
Stimulate
|
24377595 |
| Carcinoma Hepatocellular |
Associate
|
29865038 |
| Carcinoma Non Small Cell Lung |
Associate
|
15073856, 26304549 |
| Cholangiocarcinoma |
Associate
|
17550320, 22230750 |
| Colorectal Neoplasms |
Inhibit
|
17848589 |
| Cystic Fibrosis |
Associate
|
2292594 |
| Dermatomyositis |
Associate
|
2292594 |
| Endometrial Hyperplasia |
Associate
|
29250656 |
| Hemangiosarcoma |
Associate
|
22648906 |
| Hepatitis Chronic |
Stimulate
|
24377595 |
| Idiopathic Pulmonary Fibrosis |
Associate
|
22707614 |
| Leiomyosarcoma |
Associate
|
22648906 |
| Leukemia Lymphocytic Chronic B Cell |
Associate
|
18752589 |
| Lung Neoplasms |
Associate
|
11965548 |
| Lupus Erythematosus Systemic |
Associate
|
2292594, 33455918 |
| Lymphoma |
Associate
|
15649253 |
| Lymphoma B Cell |
Associate
|
22621932 |
| Meningioma |
Associate
|
15073599 |
| Mitochondrial Diseases |
Stimulate
|
22354970 |
| Mixed Connective Tissue Disease |
Associate
|
2292594 |
| Multiple Myeloma |
Associate
|
17557868 |
| Myelodysplastic Myeloproliferative Diseases |
Associate
|
26304549 |
| Myotonic Dystrophy |
Associate
|
2292594 |
| Neoplasms |
Inhibit
|
10594030, 15649253, 17494866, 17557868, 20702496, 21599969, 22354970, 24377595 |
| Neoplasms |
Associate
|
10801444, 15073856, 19808967, 22230750, 22621932, 26291246 |
| Neoplasms Second Primary |
Associate
|
23508638 |
| Neuroblastoma |
Associate
|
21725357 |
| Polymyositis |
Associate
|
2292594 |
| Precancerous Conditions |
Associate
|
26655237 |
| Scleroderma Diffuse |
Associate
|
2292594 |
| Sjogren's Syndrome |
Associate
|
2292594 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
23508638 |
| Thyroid Neoplasms |
Associate
|
23218882 |
| Urinary Bladder Neoplasms |
Associate
|
21599969 |
| Uterine Cervical Neoplasms |
Associate
|
26291246, 26655237 |
|