Arthrogryposis, renal dysfunction, and cholestasis
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Arthrogryposis, renal dysfunction, and cholestasis 1 | C1859722 | VIPAS39 | Causal Pathogenic evidence from ClinVar | 20190753, 25239142 | ClinVar |
| VPS33B | Causal Pathogenic evidence from ClinVar | 15052268, 16896922, 18853461, 19274792, 20190753, 21851503, 22753090, 23918659, 24782640, 24917129, 25239142 | ClinVar | ||
| ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 | C3150672 | VIPAS39 | Causal Pathogenic evidence from ClinVar | 20190753 | ClinVar |
| Arthrogryposis-renal dysfunction-cholestasis syndrome | 2697 | VIPAS39 | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| VPS33B | Causal Pathogenic evidence from ClinVar | - | ClinVar |