Usherin - CISMeF

Preferred Label : Usherin;

Symbol : USH2A;

CISMeF acronym : USH2A;

Type : Gene;

Alternative titles and symbols : Ush2; Ush2a gene; US2;

Ensembl ID : ENSG00000042781;

Prefixed ID : *608400;

Details

Origin ID

608400;

UMLS CUI

C1421381;

Automatic exact mappings (from CISMeF team)
- USH2A gene [LOINC component]
- Usher syndrome type 2 [ORDO Disease]
- Usher syndrome type 2 [DO Concept]
- Usher syndrome type 2A [DO Concept]
- usherin [ORDO Gene]
- usherin [HGNC gene]
HGNC gene
- usherin [HGNC gene]
NCIt concept(s)
- USH2A Gene [NCIt concept]
- USH2A wt Allele [NCIt concept]
- Usherin [NCIt concept]
ORDO concept(s)
- usherin [ORDO Gene]
Phenotypes related
- Retinitis pigmentosa 39 [OMIM Phenotype]
- Usher syndrome, type iia [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- USH2A gene [LOINC component]
- usherin [HGNC gene]

Keyword's position in hierarchy(ies) :

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