Loss of Function Mutation

Preferred Label : Loss of Function Mutation;

MeSH definition : A mutation that causes a decrease in or elimination of a gene product's activity.;

DeCS synonym : Leaky Mutation; Null Mutation;

MeSH hyponym : Leaky Mutations; Mutation, Leaky; Mutations, Leaky;

Related MeSH term : Mutation, Null; Mutations, Null; Null Mutations;

Details

Origin ID

D000073658;

UMLS CUI

C4505106;

Allowable qualifiers
- drug effects [MeSH Qualifier]
- genetics [MeSH Qualifier]
- immunology [MeSH Qualifier]
- physiology [MeSH Qualifier]
- radiation effects [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Inactivating FANCE Gene Mutation [NCIt concept]
Currated CISMeF NLP mapping
- Loss of Function Gene Mutation [NCIt concept]
Record concept(s)
- Leaky Mutation [MeSH concept]
- Loss of Function Mutation [MeSH concept]
- Null Mutation [MeSH concept]
Semantic type(s)
- Genetic Function [UMLS semantic type]
UMLS correspondences (same concept)
- Loss of Function Gene Mutation [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients