G6PC3 Loss of Function Gene Mutation

Preferred Label : G6PC3 Loss of Function Gene Mutation;

NCIt synonyms : Glucose-6-Phosphatase 3 Loss of Function Gene Mutation; G6PC3 Deficient; Glucose-6-Phosphatase Catalytic Subunit 3 Loss of Function Gene Mutation; G6PC3 Loss of Function Mutation; G6PC3 Inactivating Gene Mutation; G6PC3 Deficiency; Inactivating G6PC3 Gene Mutation; SCN4 Loss of Function Gene Mutation; Inactivating G6PC3 Mutation; G6PC3 Inactivating Mutation; UGRP Loss of Function Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the G6PC3 gene that either inhibits expression or results in the translation of an inactive glucose-6-phosphatase 3 protein.;

NCI Metathesaurus CUI : CL1662369;

Details

Origin ID

C179858;

UMLS CUI

C5552920;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
molecular_abnormality_involves_gene
- G6PC3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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