Caroli disease
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Caroli disease | 53035 | PKHD1 | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| Caroli Disease | C0162510 | PKHD1 | Causal Pathogenic evidence from ClinVar | 24710345, 26385851 | ClinVar |
| WDR19 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - | ||
| Caroli disease isolated | C1833541 | PKHD1 | Causal Pathogenic evidence from ClinVar | 24710345, 26385851 | ClinVar |