Disease-Causing Mutation

Preferred Label : Disease-Causing Mutation;

Alternative definition : NCI-GLOSS: A gene alteration that causes or predisposes an individual to a specific disease.;

Codes from synonyms : CDR0000460144;

Details

Origin ID

C93100;

UMLS CUI

C2985434;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
is_abnormality_of_gene_product
- AH Receptor-Interacting Protein [NCIt concept]

Keyword's position in hierarchy(ies) :

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