EPAS1 Gene Mutation

Preferred Label : EPAS1 Gene Mutation;

NCIt synonyms : BHLHE73 Gene Mutation; HLF Gene Mutation; MOP2 Gene Mutation; PASD2 Gene Mutation; Endothelial PAS Domain Protein 1 Gene Mutation; HIF2A Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the EPAS1 gene.;

NCI Metathesaurus CUI : CL1778547;

Details

Origin ID

C186360;

UMLS CUI

C5670485;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
molecular_abnormality_involves_gene
- EPAS1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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