Joubert syndrome with renal defect
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Joubert syndrome with renal defect | 220497 | NPHP1 | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| RPGRIP1L | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - | ||
| TMEM237 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - |