Terminology Service for NFDI4Health

ASXL1 Gene Mutation

Go to external page http://purl.obolibrary.org/obo/NCIT_C97313


A molecular genetic abnormality that refers to the presence of a mutation in the ASXL1 gene. [ ]

Term info

Label

ASXL1 Gene Mutation

Synonyms
  • ASXL Transcriptional Regulator 1 Gene Mutation
  • ASXL1 Gene Mutation
  • Additional Sex Combs Like 1 Gene Mutation
  • Additional Sex Combs Like 1, Transcriptional Regulator 1 Gene Mutation
Subsets

NCIT_C116977, NCIT_C142800, NCIT_C142799

Display Name

ASXL1 Gene Mutation

Preferred Name

ASXL1 Gene Mutation

Semantic Type

Cell or Molecular Dysfunction

UMLS CUI

C3273353

code

C97313