PMP22 Gene - CISMeF

Preferred Label : PMP22 Gene;

NCIt synonyms : Peripheral Myelin Protein 22 Gene;

NCIt related terms : PMP22;

CISMeF acronym : PMP22;

NCIt definition : This protein plays a role in the maintenance of myelin.;

Details

Origin ID

C75900;

UMLS CUI

C1418677;

HGNC gene
- peripheral myelin protein 22 [HGNC gene]
OMIM relation
- Peripheral myelin protein 22 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- PMP22 gene [LOINC component]
- Peripheral myelin protein 22 [OMIM gene]
- peripheral myelin protein 22 [HGNC gene]
gene_encodes_gene_product
- Peripheral Myelin Protein 22 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_mapped_to_disease
- Charcot-Marie-Tooth Disease Type 1A [NCIt concept]
- Neuropathy, Recurrent, with Pressure Palsies [NCIt concept]
gene_plays_role_in_process
- Neural Development [NCIt concept]
genetic_biomarker_related_to
- Dejerine-Sottas Neuropathy [NCIt concept]

Keyword's position in hierarchy(ies) :

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