REN wt Allele - CISMeF

Preferred Label : REN wt Allele;

NCIt synonyms : Renin wt Allele; HNFJ2;

NCIt definition : Human REN wild-type allele is located in the vicinity of 1q32 and is approximately 12 kb in length. This allele, which encodes renin protein, is involved in angiotensin activation and blood pressure homeostasis. Mutations in this gene are associated with both familial juvenile hyperuricemic nephropathy 2 and renal tubular dysgenesis.;

GenBank Accession Number : NM_000537;

Details

Origin ID

C113590;

UMLS CUI

C3812694;

Automatic exact mappings (from CISMeF team)
- Tubulointerstitial kidney disease, autosomal dominant, 4 [OMIM Phenotype]
- hyperuricemic nephropathy, familial juvenile 2 [MeSH Supplementary Concept]
OMIM relation
- Renin [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_plays_role_in_process
- Hydrolysis [NCIt concept]
- Proteolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

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