Inactivating PAX2 Gene Mutation

Preferred Label : Inactivating PAX2 Gene Mutation;

NCIt synonyms : Inactivating Paired Box Gene 2 Gene Mutation; Inactivating Paired Box Homeotic Gene 2 Gene Mutation; PAX2 Loss of Function Gene Mutation; PAX2 Loss of Function Mutation; PAX2 Inactivation; PAX2 Gene Inactivation; Inactivating PAX2 Mutation; Inactivating PAX-2 Gene Mutation; Inactivating Paired Box 2 Gene Mutation; Loss of Function PAX2 Gene Mutation; PAX2 Inactivating Gene Mutation; Loss of Function PAX2 Mutation;

NCIt definition : A change in the nucleotide sequence of the PAX2 gene that either inhibits expression or results in the translation of an inactive form of paired box protein Pax-2.;

NCI Metathesaurus CUI : CL1663087;

Details

Origin ID

C180502;

UMLS CUI

C5556422;

Molecular abnormality of diseases
- Endometrial Atypical Hyperplasia/Endometrioid Intraepithelial Neoplasia [NCIt concept]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
molecular_abnormality_involves_gene
- PAX2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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