Charcot-marie-tooth disease
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2Q | DHTKD1 | Causal | CTD, ClinVar | |||
| CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2T | MME | Causal | — | ClinGen, ClinVar, GenCC | ||
| CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2U | MARS1 | Causal | ClinVar, GWAS catalog | |||
| CHARCOT-MARIE-TOOTH DISEASE AXONAL TYPE 2X | SPG11 | Causal | — | ClinVar, GenCC | ||
| CHARCOT-MARIE-TOOTH DISEASE DOMINANT INTERMEDIATE F | GNB4 | Causal | ClinVar, Orphanet | |||
| CHARCOT-MARIE-TOOTH DISEASE RECESSIVE INTERMEDIATE B | KARS1 | Causal | ClinVar, Disgenet | |||
| CHARCOT-MARIE-TOOTH DISEASE RECESSIVE INTERMEDIATE C | PLEKHG5 | Causal | ClinVar, Orphanet | |||
| CHARCOT-MARIE-TOOTH DISEASE RECESSIVE INTERMEDIATE D | COX6A1 | Causal | ClinVar, GWAS catalog | |||
| CHARCOT-MARIE-TOOTH DISEASE TYPE 2 | MME | Causal | — | ClinVar | ||
| CHARCOT-MARIE-TOOTH DISEASE TYPE 2A1 | KIF1B | Causal | — | ClinVar, GenCC | ||
| CHARCOT-MARIE-TOOTH DISEASE TYPE 2B2 | PNKP | Causal | ClinVar, GWAS catalog, Orphanet | |||
| CHARCOT-MARIE-TOOTH DISEASE TYPE 2R | TRIM2 | Causal | ClinVar, GenCC, Orphanet | |||
| CHARCOT-MARIE-TOOTH DISEASE TYPE 2T | MME | Causal | GWAS catalog, Orphanet | |||
| CHARCOT-MARIE-TOOTH DISEASE TYPE 2Y | VCP | Causal | ClinVar, Orphanet | |||
| CHARCOT-MARIE-TOOTH DISEASE TYPE 4G | HK1 | Causal | ClinVar, GenCC, Orphanet | |||
| CHARCOT-MARIE-TOOTH DISEASE TYPE 4K | SURF1 | Causal | ClinVar, Disgenet | |||
| CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD | ATP1A1 | Causal | ClinGen, ClinVar, Disgenet, GWAS catalog, HPO | |||
| CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2EE | MPV17 | Causal | ClinVar, Disgenet, GenCC, HPO | |||
| CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF | CADM3 | Causal | ClinVar, Disgenet, GWAS catalog, HPO | |||
| CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2GG | GBF1 | Causal | — | ClinVar, Disgenet, HPO | ||
| CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH | JAG1 | Causal | CTD, ClinVar, Disgenet, HPO | |||
| CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, IIA 1H | FBLN5 | Causal | CTD, ClinVar | |||
| CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, IIA 1I | POLR3B | Causal | CTD, ClinVar | |||
| CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G | PMP2 | Causal | ClinVar, Disgenet, GWAS catalog, HPO | — | ||
| CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1J | ITPR3 | Causal | — | ClinVar, Disgenet, GenCC, HPO |