keratin 14 - CISMeF

Preferred Label : keratin 14;

Approved symbol HGNC : KRT14;

Name synonyms HGNC : Koebner; Dowling-Meara; epidermolysis bullosa simplex;

Chromosome HGNC : 17q21.2;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000186847;

Details

Origin ID

HGNC:6416;

UMLS CUI

C1416717;

Automatic exact mappings (from CISMeF team)
- Epidermolysis Bullosa Simplex [NCIt concept]
- Epidermolysis bullosa simplex [ORDO Disease]
- Epidermolysis bullosa simplex [ICD-11 Category]
- Epidermolysis bullosa simplex [ICD-10 Sub-category]
- Epidermolysis bullosa simplex (disorder) [SNOMED CT concept]
- Keratin 14, type I [OMIM gene]
- Keratin, Type I Cytoskeletal 14 [NCIt concept]
- Keratin-14 [MeSH Descriptor]
- epidermolysis bullosa simplex [SNOMED Notion]
- epidermolysis bullosa simplex [MeSH Descriptor]
- epidermolysis bullosa simplex [DO Concept]
- epidermolysis bullosa simplex [MeSH concept]
- keratin 14 [ORDO Gene]
False automatic mappings
- Epidermolysis bullosa simplex [OMIM phenotypic series]
NCIt concept
- KRT14 Gene [NCIt concept]
OMIM gene
- Keratin 14, type I [OMIM gene]
Orphanet gene
- keratin 14 [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- KRT14 Gene [NCIt concept]
- Keratin 14, type I [OMIM gene]

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