Transient receptor potential cation channel, subfamily V, member 4

Preferred Label : Transient receptor potential cation channel, subfamily V, member 4;

Symbol : TRPV4;

CISMeF acronym : TRPV4;

Type : Gene;

Alternative titles and symbols : Vanilloid receptor-related osmotically activated channel; Osm9-like transient receptor potential channel 4; Transient receptor potential channel 12; Transient receptor potential, drosophila, homolog of, 12; VROAC; OTRPC4; TRP12;

Ensembl ID : ENSG00000111199;

Prefixed ID : *605427;

Details

Origin ID

605427;

UMLS CUI

C1425291;

Automatic exact mappings (from CISMeF team)
- TRPV4 Gene [NCIt concept]
- TRPV4 wt Allele [NCIt concept]
- Transient Receptor Potential Cation Channel Subfamily V Member 4 [NCIt concept]
- transient receptor potential cation channel subfamily V member 4 [ORDO Gene]
- transient receptor potential cation channel subfamily V member 4 [HGNC gene]
HGNC gene
- transient receptor potential cation channel subfamily V member 4 [HGNC gene]
NCIt concept(s)
- TRPV4 Gene [NCIt concept]
- TRPV4 wt Allele [NCIt concept]
- Transient Receptor Potential Cation Channel Subfamily V Member 4 [NCIt concept]
ORDO concept(s)
- transient receptor potential cation channel subfamily V member 4 [ORDO Gene]
Phenotypes related
- Avascular necrosis of femoral head, primary, 2 [OMIM Phenotype]
- Brachyolmia type 3 [OMIM Phenotype]
- Digital arthropathy-brachydactyly, familial [OMIM Phenotype]
- Hereditary motor and sensory neuropathy, type iic [OMIM Phenotype]
- Metatropic dysplasia [OMIM Phenotype]
- Neuronopathy, distal hereditary motor, autosomal dominant 8 [OMIM Phenotype]
- Parastremmatic dwarfism [OMIM Phenotype]
- Scapuloperoneal spinal muscular atrophy [OMIM Phenotype]
- Sodium serum level quantitative trait locus 1 [OMIM Phenotype]
- Spondyloepiphyseal dysplasia, maroteaux type [OMIM Phenotype]
- Spondylometaphyseal dysplasia, kozlowski type [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- TRPV4 Gene [NCIt concept]
- TRPV4 gene [LOINC component]
- transient receptor potential cation channel subfamily V member 4 [HGNC gene]

Keyword's position in hierarchy(ies) :

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