|
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 |
| Alzheimer disease |
Alzheimer's disease or family history of Alzheimer's disease |
N/A |
N/A |
GWAS |
| Astrocytoma |
Pilocytic astrocytoma |
N/A |
N/A |
GWAS |
| Colorectal Cancer |
Colorectal cancer |
N/A |
N/A |
GWAS |
| Dementia |
Dementia |
N/A |
N/A |
GWAS |
| Multiple Sclerosis |
Multiple sclerosis |
N/A |
N/A |
GWAS |
| Progressive Supranuclear Palsy |
Progressive supranuclear palsy |
N/A |
N/A |
GWAS |
| Schizophrenia |
Schizophrenia |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Breast Neoplasms |
Associate
|
17255943, 24621372, 32235890, 37762658 |
| Carcinogenesis |
Associate
|
20187983 |
| Carcinoma Hepatocellular |
Associate
|
36110251, 36550445 |
| Carcinoma Non Small Cell Lung |
Associate
|
29364481 |
| Carcinoma Ovarian Epithelial |
Associate
|
24427349, 27667152 |
| Colorectal Neoplasms |
Associate
|
15750208 |
| Glioblastoma |
Associate
|
32926734 |
| Hepatoblastoma |
Associate
|
27910913 |
| Intervertebral Disc Degeneration |
Associate
|
35069789 |
| Lupus Erythematosus Systemic |
Inhibit
|
39473004 |
| Neoplasm Metastasis |
Associate
|
24427349, 24621372, 31399545, 31591270 |
| Neoplasm Metastasis |
Stimulate
|
29364481, 32235890 |
| Neoplasms |
Associate
|
15750208, 17255943, 20187983, 24427349, 27667152, 30509302, 31399545, 31591270, 33639150, 36110251, 36758799, 36792578, 37762658 |
| Neoplasms |
Inhibit
|
33576454 |
| NOG Related Symphalangism Spectrum Disorder |
Associate
|
15750208 |
| Ovarian Neoplasms |
Associate
|
24427349, 27667152, 36528667 |
| Ovarian Neoplasms |
Inhibit
|
33576454 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
24621372 |
| Stomach Neoplasms |
Associate
|
20187983, 33639150 |
| Stomach Neoplasms |
Stimulate
|
36792578 |
| Triple Negative Breast Neoplasms |
Associate
|
32235890 |
| Tuberculosis |
Associate
|
25774636, 36249417 |
| Tuberculosis |
Inhibit
|
25774636 |
| Tuberculosis Pulmonary |
Associate
|
36249417 |
| Urinary Bladder Neoplasms |
Associate
|
32535071 |
| Vitamin D Deficiency |
Associate
|
15750208 |
|