|
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 |
| Ankylosing Spondylitis |
Ankylosing spondylitis |
N/A |
N/A |
GWAS |
| Atrial Fibrillation |
Atrial fibrillation |
N/A |
N/A |
GWAS |
| Bipolar Disorder |
Bipolar disorder |
N/A |
N/A |
GWAS |
| Breast cancer |
Breast cancer |
N/A |
N/A |
GWAS |
| Celiac disease |
Celiac disease |
N/A |
N/A |
GWAS |
| Colorectal Cancer |
Colorectal cancer, Colorectal cancer (PheCode 153) |
N/A |
N/A |
GWAS |
| Crohn Disease |
Crohn's disease |
N/A |
N/A |
GWAS |
| Diabetes |
Type 2 diabetes with neurological manifestations (PheCode 250.24), Type 2 diabetes with ophthalmic manifestations (PheCode 250.23), Type 2 diabetes (PheCode 250.2), Type 2 diabetes |
N/A |
N/A |
GWAS |
| Glioblastoma |
Glioblastoma |
N/A |
N/A |
GWAS |
| Hyperopia |
Hyperopia |
N/A |
N/A |
GWAS |
| Inflammatory Bowel Disease |
Inflammatory bowel disease, Inflammatory bowel disease (MTAG), Inflammatory bowel disease (early onset) |
N/A |
N/A |
GWAS |
| Mental retardation |
syndromic intellectual disability |
N/A |
N/A |
GenCC |
| Metabolic Syndrome |
Metabolic syndrome |
N/A |
N/A |
GWAS |
| Multiple Sclerosis |
Multiple sclerosis |
N/A |
N/A |
GWAS |
| Neurodevelopmental Disorders |
complex neurodevelopmental disorder |
N/A |
N/A |
GenCC |
| Prostate cancer |
Prostate cancer |
N/A |
N/A |
GWAS |
| Psoriasis |
Psoriasis |
N/A |
N/A |
GWAS |
| Psoriasis vulgaris |
Psoriasis vulgaris |
N/A |
N/A |
GWAS |
| Takayasu Arteritis |
Takayasu arteritis |
N/A |
N/A |
GWAS |
| Ulcerative colitis |
Ulcerative colitis |
N/A |
N/A |
GWAS |
| Vitiligo |
Vitiligo |
N/A |
N/A |
GWAS |