Loss of Function Gene Mutation

Preferred Label : Loss of Function Gene Mutation;

NCIt synonyms : Inactivating Mutation; Loss of Function Mutation; Inactivating Gene Mutation;

NCIt definition : A change in the nucleotide sequence of a gene that results in decreased expression or activity for the encoded protein.;

NCI Metathesaurus CUI : CL772814;

Details

Origin ID

C178119;

UMLS CUI

C4505106;

Automatic exact mappings (from CISMeF team)
- Loss of Function Mutation [MeSH concept]
Currated CISMeF NLP mapping
- Loss of Function Mutation [MeSH Descriptor]
Semantic type(s)
- Genetic Function [UMLS semantic type]
UMLS correspondences (same concept)
- Loss of Function Mutation [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

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