CA6 wt Allele - CISMeF

Preferred Label : CA6 wt Allele;

NCIt synonyms : RP3-477M7.7; GUSTIN; CA-VI; Carbonic Anhydrase VI wt Allele;

NCIt definition : Human CA6 wild-type allele is located in the vicinity of 1p36.2 and is approximately 29 kb in length. This allele, which encodes carbonic anhydrase 6 protein, is involved in the reversible hydration of carbon dioxide. Mutations in this gene are associated with both multilocular clear cell renal cell carcinoma and herpangina.;

GenBank Accession Number : NM_001215;

Details

Origin ID

C113532;

UMLS CUI

C3814799;

Automatic exact mappings (from CISMeF team)
- CAVI [MedDRA LLT]
- Carbonic anhydrase VI [OMIM gene]
- Genus Cavia (organism) [SNOMED CT concept]
- carbonic anhydrase VI [MeSH Supplementary Concept]
OMIM relation
- Carbonic anhydrase VI [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 1p36.2 [NCIt concept]
gene_is_element_in_pathway
- Nitrogen Metabolism Pathway [NCIt concept]

Keyword's position in hierarchy(ies) :

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