Joubert syndrome with congenital hepatic fibrosis
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| COACH syndrome | C1857662 | CC2D2A | Causal Pathogenic evidence from ClinVar | 18513680, 18950740, 19574260, 22246503, 27959436 | ClinVar |
| RPGRIP1L | Causal Pathogenic evidence from ClinVar | 17558407, 17558409, 19574260 | ClinVar | ||
| TMEM67 | Causal Pathogenic evidence from ClinVar | 613550, 16415887, 17160906, 18327255, 19058225, 19508969, 19574260, 20607301, 20615230, 26191240, 28860541 | ClinVar | ||
| INPP5E | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 19668216 | - |