|
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 |
| Attention Deficit Hyperactivity Disorder |
Attention deficit hyperactivity disorder |
N/A |
N/A |
GWAS |
| Autism Spectrum Disorder |
autism spectrum disorder |
N/A |
N/A |
GenCC |
| Breast Cancer |
Postmenopausal breast cancer, Breast cancer (estrogen-receptor negative, progesterone-receptor negative, and human epidermal growth factor-receptor negative) |
N/A |
N/A |
GWAS |
| Breast cancer |
Breast cancer (estrogen-receptor negative), Breast cancer, Breast Cancer in BRCA1 mutation carriers |
N/A |
N/A |
GWAS |
| Dementia |
Dementia |
N/A |
N/A |
GWAS |
| Hereditary Palmoplantar Keratoderma |
punctate palmoplantar keratoderma |
N/A |
N/A |
GenCC |
| Ischemic Stroke |
Ischemic stroke |
N/A |
N/A |
GWAS |
| Myopia |
Myopia |
N/A |
N/A |
GWAS |
| Polycystic Ovary Syndrome |
Polycystic ovary syndrome |
N/A |
N/A |
GWAS |
| Tremor |
Essential tremor |
N/A |
N/A |
GWAS |