|
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 |
| Cerebral amyloid angiopathy |
Cerebral amyloid angiopathy |
N/A |
N/A |
GWAS |
| Diabetes |
Type 2 diabetes |
N/A |
N/A |
GWAS |
| Hypertension |
Hypertension |
N/A |
N/A |
GWAS |
| Metabolic Syndrome |
Metabolic syndrome |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenomatous Polyposis Coli |
Associate
|
1325652, 1339098, 1347524, 1565631, 1682292, 8178829 |
| Breast Neoplasms |
Associate
|
21279955, 27208794 |
| Colorectal Neoplasms |
Associate
|
1325652, 1339098, 1347524, 1565631, 1682292, 21279955, 25997006, 27208794, 27226254, 29695640, 7947085, 8178829 |
| Communication Disorders |
Associate
|
31937830 |
| Esophageal Neoplasms |
Associate
|
1565631 |
| Gardner Syndrome |
Associate
|
1339098 |
| Gastrointestinal Neoplasms |
Associate
|
1565631 |
| Hereditary Breast and Ovarian Cancer Syndrome |
Associate
|
21279955 |
| Hirschsprung Disease |
Associate
|
29695640 |
| Lung Neoplasms |
Associate
|
40311306 |
| Neoplasms |
Associate
|
1339098, 27208794, 8855982 |
| Neoplasms |
Inhibit
|
1347524, 1347643, 17017123 |
| Odontogenic Cysts |
Associate
|
14987156 |
| Retinal Dysplasia |
Associate
|
24925057 |
| Schilbach Rott Syndrome Ocular Hypotelorism Submucosal Cleft Palate and Hypospadias |
Associate
|
24925057 |
| Schizophrenia |
Associate
|
27226254 |
| Stomach Neoplasms |
Associate
|
10605402, 30702489, 8226275 |
| Triple Negative Breast Neoplasms |
Associate
|
27208794 |
|