PDE3A wt Allele

Preferred Label : PDE3A wt Allele;

NCIt synonyms : Phosphodiesterase 3A wt Allele; Phosphodiesterase 3A, cGMP-Inhibited Gene; CGI-PDE-A; HTNB; CGI-PDE; CGI-PDE A; cAMP Phosphodiesterase, Myocardial cGMP-Inhibited Gene;

NCIt definition : Human PDE3A wild-type allele is located in the vicinity of 12p12.2 and is approximately 320 kb in length. This allele, which encodes cGMP-inhibited 3',5'-cyclic phosphodiesterase A protein, plays a role in the regulation of cAMP- and cGMP-mediated signaling. Mutation of the gene is associated with hypertension and brachydactyly syndrome.;

NCI Metathesaurus CUI : CL1663346;

GenBank Accession Number : NM_000921;

Details

Origin ID

C180801;

UMLS CUI

C5551151;

Automatic exact mappings (from CISMeF team)
- Hypertension and brachydactyly syndrome [OMIM Phenotype]
- hypertension and brachydactyly syndrome [DO Concept]
- phosphodiesterase 3A [ORDO Gene]
OMIM relation
- Phosphodiesterase 3a [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_is_element_in_pathway
- Purine Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Hydrolysis [NCIt concept]
- Nucleotide Metabolic Process [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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