Charcot-marie-tooth disease, x-linked
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| CHARCOT-MARIE-TOOTH DISEASE X-LINKED DOMINANT 1 | GJB1 | Causal | ClinGen, ClinVar, GenCC | |||
| CHARCOT-MARIE-TOOTH DISEASE X-LINKED DOMINANT 6 | PDK3 | Causal | ClinGen, ClinVar, GWAS catalog | |||
| CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE 4 | AIFM1 | Causal | ClinVar, GWAS catalog | |||
| CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE 5 | PRPS1 | Causal | ClinVar, GWAS catalog | |||
| CHARCOT-MARIE-TOOTH NEUROPATHY X |
|
GJB1 | Causal | — | ClinVar | |
| PRPS1 | Causal | — | ClinVar |