neurofilament light chain

Preferred Label : neurofilament light chain;

Approved symbol HGNC : NEFL;

Name synonyms HGNC : protein phosphatase 1; regulatory subunit 110;

Alias symbols HGNC : PPP1R110; NFL; CMT2E; CMT1F; NF68;

Chromosome HGNC : 8p21.2;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000277586;

Details

Origin ID

HGNC:7739;

UMLS CUI

C1417668;

Automatic exact mappings (from CISMeF team)
- Charcot-marie-tooth disease, axonal, type 2e [OMIM Phenotype]
- Charcot-marie-tooth disease, demyelinating, type 1f [OMIM Phenotype]
- Neurofilament Light Polypeptide [NCIt concept]
- Neurofilament protein, light polypeptide [OMIM gene]
- neurofilament light chain [ORDO Gene]
- protein phosphatase 1 [MeSH concept]
- protein phosphatase 1 [MeSH Descriptor]
NCIt concept
- NEFL Gene [NCIt concept]
OMIM gene
- Neurofilament protein, light polypeptide [OMIM gene]
Orphanet gene
- neurofilament light chain [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- NEFL Gene [NCIt concept]
- NEFL gene [LOINC component]
- Neurofilament protein, light polypeptide [OMIM gene]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients