Peripheral myelin protein 22

Preferred Label : Peripheral myelin protein 22;

Symbol : PMP22;

CISMeF acronym : PMP22;

Type : Gene;

Alternative titles and symbols : Growth arrest-specific 3; GAS3;

Ensembl ID : ENSG00000109099;

Prefixed ID : *601097;

Détails

Origin ID

601097;

UMLS CUI

C1418677;

Automatic exact mappings (from CISMeF team)
- PMP22 Gene [NCIt concept]
- PMP22 gene [LOINC component]
- PMP22 wt Allele [NCIt concept]
- Peripheral Myelin Protein 22 [NCIt concept]
- peripheral myelin protein 22 [ORDO Gene]
- peripheral myelin protein 22 [HGNC gene]
- peroxisomal membrane protein 2 [HGNC gene]
HGNC gene
- peripheral myelin protein 22 [HGNC gene]
NCIt concept(s)
- PMP22 Gene [NCIt concept]
- PMP22 wt Allele [NCIt concept]
- Peripheral Myelin Protein 22 [NCIt concept]
ORDO concept(s)
- peripheral myelin protein 22 [ORDO Gene]
Phenotypes related
- Charcot-marie-tooth disease and deafness [OMIM Phenotype]
- Charcot-marie-tooth disease, demyelinating, type 1a [OMIM Phenotype]
- Guillain-barre syndrome, familial [OMIM Phenotype]
- Hypertrophic neuropathy of dejerine-sottas [OMIM Phenotype]
- Neuropathy, hereditary, with liability to pressure palsies [OMIM Phenotype]
- Roussy-levy hereditary areflexic dystasia [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- PMP22 Gene [NCIt concept]
- PMP22 gene [LOINC component]
- peripheral myelin protein 22 [HGNC gene]

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