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KIT Gene Mutation

Go to external page http://purl.obolibrary.org/obo/NCIT_C39712

A molecular genetic abnormality that refers to mutation of the c-kit (CD117) proto-oncogene. It is associated with the development of gastrointestinal stromal tumor and gastrointestinal autonomic nerve tumor. It has also been described in acute myeloid leukemias, dysgerminomas, and seminomas. [ ]

Term info

Label

KIT Gene Mutation

Synonyms
  • C-KIT Mutation
  • CD117 Gene Mutation
  • CD117 Mutation
  • KIT Gene Mutation
  • KIT Mutation
  • KIT Proto-Oncogene Tyrosine Protein Kinase Gene Mutation
  • V-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog Gene Mutation
  • c-KIT Gene Mutation
Subsets

NCIT_C159415, NCIT_C159414, NCIT_C156953, NCIT_C156952, NCIT_C116977, NCIT_C159339, NCIT_C142800, NCIT_C142799

Contributing Source

CTRP, CPTAC

Display Name

KIT Gene Mutation

Legacy Concept Name

C-KIT_Mutation

Preferred Name

KIT Gene Mutation

Semantic Type

Cell or Molecular Dysfunction

UMLS CUI

C3266990

code

C39712