Neurofilament protein, heavy polypeptide

Preferred Label : Neurofilament protein, heavy polypeptide;

Symbol : NEFH;

CISMeF acronym : NEFH;

Type : Gene;

Alternative titles and symbols : NFH;

Ensembl ID : ENSG00000100285;

Prefixed ID : *162230;

Details

Origin ID

162230;

UMLS CUI

C1417666;

Automatic exact mappings (from CISMeF team)
- NEFH Gene [NCIt concept]
- NEFH wt Allele [NCIt concept]
- Neurofilament Heavy Polypeptide [NCIt concept]
- No family history of (contextual qualifier) (qualifier value) [SNOMED CT concept]
- neurofilament heavy chain [HGNC gene]
- neurofilament heavy chain [ORDO Gene]
HGNC gene
- neurofilament heavy chain [HGNC gene]
NCIt concept(s)
- NEFH Gene [NCIt concept]
- NEFH wt Allele [NCIt concept]
- Neurofilament Heavy Polypeptide [NCIt concept]
ORDO concept(s)
- neurofilament heavy chain [ORDO Gene]
Phenotypes related
- Amyotrophic lateral sclerosis 1 [OMIM Phenotype]
- Charcot-marie-tooth disease, axonal, type 2cc [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- NEFH Gene [NCIt concept]
- neurofilament heavy chain [HGNC gene]

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