|
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 |
| Breast Cancer |
Breast cancer, Breast cancer subtype (luminal B-like vs luminal A-like), Malignant tumor of breast |
N/A |
N/A |
GWAS, ClinVar |
| hereditary cancer |
Hereditary cancer |
N/A |
N/A |
ClinVar |
| Hereditary Pheochromocytoma-Paraganglioma |
hereditary pheochromocytoma-paraganglioma |
N/A |
N/A |
GenCC |
| Meniere Disease |
meniere disease |
N/A |
N/A |
ClinVar |
| Multiple Sclerosis |
Multiple sclerosis |
N/A |
N/A |
GWAS |
| Neuroblastoma |
neuroblastoma, Neuroblastoma, susceptibility to, 1, neuroblastoma, susceptibility to, 1 |
N/A |
N/A |
ClinVar, GenCC |
| Pheochromocytoma |
pheochromocytoma |
N/A |
N/A |
ClinVar, GenCC |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Alzheimer Disease |
Associate
|
34440432 |
| Carcinoma Hepatocellular |
Associate
|
22363396, 22712471, 22807686, 24204805, 24357186, 26217094, 27122668 |
| Carcinoma Ovarian Epithelial |
Associate
|
25854172 |
| Carcinoma Renal Cell |
Associate
|
26823729 |
| Corneal Dystrophy Crystalline of Schnyder |
Associate
|
16163269 |
| Hepatitis B |
Associate
|
22363396 |
| Hepatitis B Chronic |
Associate
|
22363396 |
| Islet cell tumor syndrome |
Associate
|
35046208 |
| Multiple Sclerosis |
Associate
|
19935835, 21594895, 23469041 |
| Muscle Weakness |
Stimulate
|
38274408 |
| Muscular Atrophy |
Stimulate
|
38274408 |
| Neoplasms |
Inhibit
|
15740626, 20548289 |
| Neoplasms |
Associate
|
23028799 |
| Neoplastic Syndromes Hereditary |
Associate
|
32354376 |
| Neuroblastoma |
Associate
|
34116676 |
| Paraganglioma |
Associate
|
33138083, 33397043, 37780619 |
| Pheochromocytoma |
Associate
|
35046208 |
| Virus Diseases |
Associate
|
23028799 |
|