Pelizaeus-merzbacher disease
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| PELIZAEUS MERZBACHER LIKE DISEASE | MAL | Unknown | — | Disgenet | — | |
| PELIZAEUS MERZBACHER LIKE DISEASE DUE TO AIMP1 MUTATION | AIMP1 | Unknown | — | Disgenet | ||
| PELIZAEUS-MERZBACHER DISEASE | GJC2 | Causal | — | Disgenet | ||
| PLP1 | Causal | CTD, ClinVar, Disgenet, HPO | — | |||
| RAB9B | Unknown | — | Disgenet | |||
| PELIZAEUS-MERZBACHER DISEASE IN FEMALE CARRIER | PLP1 | Unknown | — | Disgenet | — | |
| PELIZAEUS-MERZBACHER DISEASE IN FEMALE CARRIERS | PLP1 | Unknown | CTD, Orphanet | — | ||
| PELIZAEUS-MERZBACHER DISEASE NULL SYNDROME | PLP1 | Unknown | — | Disgenet | — | |
| PELIZAEUS-MERZBACHER DISEASE TYPE II | PLP1 | Unknown | — | Disgenet | — | |
| PELIZAEUS-MERZBACHER DISEASE, ATYPICAL | PLP1 | Causal | — | Disgenet | — | |
| RAB9B | Unknown | — | Disgenet | |||
| PELIZAEUS-MERZBACHER DISEASE, CLASSIC FORM | PLP1 | Unknown | Disgenet, Orphanet | — | ||
| PELIZAEUS-MERZBACHER DISEASE, CONNATAL FORM | PLP1 | Unknown | GWAS catalog, Orphanet | — | ||
| PELIZAEUS-MERZBACHER DISEASE, TRANSITIONAL FORM | PLP1 | Unknown | Disgenet, Orphanet | — | ||
| Pelizaeus-Merzbacher spectrum disorder |
|
PLP1 | Unknown | — | ClinGen | — |
| PELIZAEUS-MERZBACHER-LIKE DISEASE | MAL | Unknown | Orphanet | — | ||
| PELIZAEUS-MERZBACHER-LIKE DISEASE DUE TO AIMP1 MUTATION | AIMP1 | Unknown | Orphanet | |||
| PELIZAEUS-MERZBACHER-LIKE DISEASE DUE TO GJC2 MUTATION | GJC2 | Unknown | Orphanet | |||
| PELIZAEUS-MERZBACHER-LIKE DISEASE DUE TO HSPD1 MUTATION | HSPD1 | Unknown | Orphanet | |||
| PELIZAEUS-MERZBACHER-LIKE DISEASE, AUTOSOMAL RECESSIVE, 2 | AIMP1 | Unknown | — | Disgenet | ||
| PELIZEAUS-MERZBACHER SPECTRUM DISORDER | PLP1 | Unknown | ClinGen, GenCC | — |