otoferlin - CISMeF

Preferred Label : otoferlin;

Approved symbol HGNC : OTOF;

Name synonyms HGNC : fer-1-like family member 2;

Alias symbols HGNC : FER1L2; DFNB6;

Chromosome HGNC : 2p23.3;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000115155;

Détails

Origin ID

HGNC:8515;

UMLS CUI

C1418195;

Automatic exact mappings (from CISMeF team)
- Deafness, autosomal recessive 6 [OMIM Phenotype]
- Otoferlin [OMIM gene]
- otoferlin [ORDO Gene]
OMIM gene
- Otoferlin [OMIM gene]
Orphanet gene
- otoferlin [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- OTOF gene [LOINC component]
- Otoferlin [OMIM gene]

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