|
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 |
| Cervical Cancer |
Cervical cancer |
N/A |
N/A |
GWAS |
| Multiple Sclerosis |
Multiple sclerosis |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Angina Pectoris |
Associate
|
26823790 |
| Arthritis Rheumatoid |
Associate
|
35148199 |
| Asthma |
Associate
|
34510493 |
| Atherosclerosis |
Associate
|
29905534 |
| Carcinoma Renal Cell |
Associate
|
23139634 |
| Carcinoma Squamous Cell |
Associate
|
24130905, 28211524 |
| Carotid Artery Diseases |
Associate
|
29905534 |
| Colitis Ulcerative |
Associate
|
33201212, 38303405 |
| Colorectal Neoplasms |
Associate
|
30918427 |
| Congenital thrombotic disease due to Protein C deficiency |
Associate
|
26666746, 27109862 |
| COVID 19 |
Associate
|
35148199 |
| Crohn Disease |
Associate
|
33201212, 35148199 |
| Heavy Chain Disease |
Associate
|
32826957 |
| HIV Infections |
Associate
|
30530590 |
| Immunoglobulin G4 Related Disease |
Stimulate
|
29499100 |
| Inflammation |
Associate
|
28678593, 35148199 |
| Inflammatory Bowel Diseases |
Associate
|
33201212 |
| Leukemia Lymphocytic Chronic B Cell |
Associate
|
32826957 |
| Leukemia Plasma Cell |
Associate
|
26130131, 26666746 |
| Lupus Erythematosus Systemic |
Associate
|
20345977, 23956418, 33828555 |
| Lupus Erythematosus Systemic |
Inhibit
|
28076903, 29020082 |
| Meningitis Pneumococcal |
Associate
|
34620928 |
| Multiple Myeloma |
Associate
|
23900284, 24385542, 26666746, 29089645, 30519736, 31431433, 33575947, 33846552, 35276027, 36245253, 38035078 |
| Multiple Sclerosis |
Associate
|
36864689, 37903821 |
| Myocardial Infarction |
Inhibit
|
26823790 |
| Neoplasm Residual |
Associate
|
26287276 |
| Neoplasms |
Associate
|
28222938, 29089645, 30710089, 36357792 |
| Neuroblastoma |
Associate
|
35525858 |
| Otitis Media |
Stimulate
|
39921981 |
| Ovarian Neoplasms |
Associate
|
32149080, 36978087 |
| Pleural Effusion |
Associate
|
21123535 |
| Pneumonia |
Associate
|
39921981 |
| Pneumonia Pneumococcal |
Associate
|
21123535, 30388168 |
| Psoriasis |
Associate
|
38303405 |
| Pyruvate Carboxylase Deficiency Disease |
Associate
|
36752202 |
| Sarcoma Myeloid |
Associate
|
33575947 |
| Skin Neoplasms |
Associate
|
28211524 |
| Virus Diseases |
Associate
|
28076903 |
|