Jeune syndrome
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| ASPHYXIATING THORACIC DYSTROPHY 2 | IFT80 | Causal | CTD, ClinGen, ClinVar, Disgenet | |||
| ASPHYXIATING THORACIC DYSTROPHY 3 | DYNC2H1 | Causal | ClinGen, ClinVar, Disgenet | |||
| ASPHYXIATING THORACIC DYSTROPHY 4 | TTC21B | Causal | — | ClinVar, GenCC | ||
| ASPHYXIATING THORACIC DYSTROPHY 5 | WDR19 | Causal | ClinVar, GenCC |