Terminology Service for NFDI4Health

PDGFRA Gene Mutation

Go to external page http://purl.obolibrary.org/obo/NCIT_C39718


A molecular genetic abnormality indicating the presence of a mutation in the PDGFRA (platelet-derived growth factor receptor, alpha polypeptide) gene on chromosome 4q12. [ ]

Term info

Label

PDGFRA Gene Mutation

Synonyms
  • CD140A Gene Mutation
  • PDGFR-2 Gene Mutation
  • PDGFR2 Gene Mutation
  • PDGFRA Gene Mutation
  • PDGFRA Mutation
  • PDGFRalpha Gene Mutation
  • Platelet-Derived Growth Factor Receptor Alpha Gene Mutation
  • RHEPDGFRA Gene Mutation
Subsets

NCIT_C159414, NCIT_C156953, NCIT_C156952, NCIT_C116977, NCIT_C142800, NCIT_C142799

Contributing Source

CTRP, CPTAC

Display Name

PDGFRA Gene Mutation

Legacy Concept Name

PDGFRalpha_Gene_Mutation

Preferred Name

PDGFRA Gene Mutation

Semantic Type

Cell or Molecular Dysfunction

UMLS CUI

C1518782

code

C39718