|
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 |
| Biliary Cholangitis |
Primary biliary cholangitis |
N/A |
N/A |
GWAS |
| Dementia |
Dementia |
N/A |
N/A |
GWAS |
| Multiple Sclerosis |
Multiple sclerosis |
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 |
Associate
|
15838509, 16176992, 16859508, 17133579, 17179172, 20190142, 22392608, 29193869 |
| Asthma |
Associate
|
31945409 |
| Autoimmune Diseases |
Associate
|
17868046, 19050767, 19452015, 20190142, 20626413, 25594855, 26334889, 32023449 |
| Behcet Syndrome |
Associate
|
19050767, 37264476 |
| Breast Neoplasms |
Associate
|
28059167 |
| Congenital myasthenic syndrome with episodic apnea |
Associate
|
25829454 |
| Demyelinating Diseases |
Associate
|
26402798 |
| Endometriosis |
Associate
|
22341374, 23553198, 26334889 |
| Graves Disease |
Associate
|
23505439, 27863461 |
| Hepatitis C |
Associate
|
24504816 |
| Infertility |
Associate
|
22341374, 23553198 |
| Inflammation |
Associate
|
32023449 |
| Leukemia Lymphocytic Chronic B Cell |
Associate
|
18314442 |
| Lupus Erythematosus Systemic |
Associate
|
15838509, 17133581, 38461541 |
| Multiple Sclerosis |
Associate
|
26402798, 33037294, 36759259 |
| Multiple Sclerosis |
Inhibit
|
36864689 |
| Neoplasms |
Stimulate
|
23792457 |
| Neoplasms |
Associate
|
30638415, 32023449 |
| Neuromyelitis Optica |
Associate
|
26402798 |
| NOG Related Symphalangism Spectrum Disorder |
Associate
|
27766406 |
| Osteoarthritis |
Associate
|
31945409 |
| Rhinitis Allergic |
Associate
|
25594855 |
| Sezary Syndrome |
Associate
|
23792457, 30638415 |
| Thyroiditis Autoimmune |
Associate
|
15838509, 17133579, 17133581, 17952073, 37197658 |
|