|
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 |
| Diabetes |
Type ii diabetes, Type 2 diabetes with neurological manifestations (PheCode 250.24), Type 2 diabetes, Type 2 diabetes with renal manifestations (PheCode 250.22), Type 2 diabetes with ophthalmic manifestations (PheCode 250.23), Circulating leptin levels or type 2 diabetes, Type 2 diabetes (PheCode 250.2), Type 2 diabetes (adjusted for BMI), Body mass index and type 2 diabetes (pairwise), Body fat percentage and type 2 diabetes (pairwise) |
N/A |
N/A |
GWAS |
| Gout |
Gout |
N/A |
N/A |
GWAS |
| Hyperlipidemia |
Familial combined hyperlipidemia defined by Brunzell criteria |
N/A |
N/A |
GWAS |
| Metabolic Syndrome |
Metabolic syndrome |
N/A |
N/A |
GWAS |
| Uterine Fibroids |
Uterine fibroids |
N/A |
N/A |
GWAS |
|