|
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 |
| Asthma |
Asthma, Atopic asthma |
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
|
26330267 |
| Arthritis |
Associate
|
18593758, 20219786 |
| Arthritis Juvenile |
Associate
|
18593758, 19674979, 19714643 |
| Arthritis Rheumatoid |
Associate
|
17804836, 17880261, 18434327, 18593758, 18759306, 19116907, 19445664, 19503088, 19714643, 19741008, 20219786, 20353580, 21492465, 23125866, 23242182, 24040234, 25566937, 25834819, 27189724, 28681901, 34910834, 36973646, 37108746 View all (8 more) |
| Autoimmune Diseases |
Associate
|
21804190, 29339359, 32231389, 37108746 |
| Breast Neoplasms |
Associate
|
24699530, 29339359 |
| Burkitt Lymphoma |
Associate
|
9733827 |
| Carcinogenesis |
Associate
|
35194031 |
| Carcinoma Hepatocellular |
Associate
|
30021196 |
| Carcinoma Squamous Cell |
Associate
|
22808251 |
| Cognitive Dysfunction |
Associate
|
23710202 |
| Colitis Ulcerative |
Associate
|
31918598 |
| Colorectal Neoplasms |
Associate
|
30173777, 34975867 |
| Death |
Associate
|
19116907 |
| Gastritis Atrophic |
Associate
|
40138873 |
| Glioblastoma |
Associate
|
28926524 |
| Graves Disease |
Associate
|
26699338 |
| Hereditary Angioedema Type III |
Associate
|
29339359 |
| HIV Infections |
Associate
|
29222166 |
| Hodgkin Disease |
Associate
|
12782762 |
| Hodgkin Disease |
Stimulate
|
9885224 |
| IgA Vasculitis |
Associate
|
40717085 |
| Infections |
Associate
|
40138873 |
| Inflammation |
Associate
|
17804836, 23283995, 36049539, 37821650 |
| Inflammation |
Stimulate
|
31918598 |
| Joint Diseases |
Associate
|
25566937 |
| Leukemia |
Associate
|
10595933 |
| Leukemia Lymphocytic Chronic B Cell |
Associate
|
12411322 |
| Liver Cirrhosis Biliary |
Associate
|
23125866, 23710202 |
| Liver Diseases |
Associate
|
23125866 |
| Lupus Erythematosus Systemic |
Associate
|
21905002 |
| Lymphocytic Choriomeningitis |
Associate
|
29222166 |
| Lymphoma |
Associate
|
12502848 |
| Lymphoma B Cell |
Stimulate
|
12933571 |
| Lymphoma Large B Cell Diffuse |
Associate
|
9885224 |
| Lymphoma Large Cell Anaplastic |
Associate
|
25501114, 26187744 |
| Lymphoma Non Hodgkin |
Associate
|
17827388 |
| Lymphoproliferative Disorders |
Associate
|
14521460, 25996949 |
| Multiple Myeloma |
Associate
|
34759347 |
| Multiple Sclerosis |
Associate
|
35561450 |
| Neoplasms |
Associate
|
19116907, 20205706, 26187744, 29339359, 30021196 |
| Osteoporosis |
Associate
|
34910834 |
| Sepsis |
Associate
|
19116907, 20205706 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
28381191, 37210507 |
| Stomach Neoplasms |
Associate
|
35936362 |
| Thyroiditis Autoimmune |
Associate
|
26699338 |
| Tooth Erosion |
Associate
|
20219786 |
| Triple Negative Breast Neoplasms |
Associate
|
32235890 |
| Urinary Bladder Neoplasms |
Associate
|
33452764, 35194031 |
|