Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 92579
Gene Symbol: G6PC3
G6PC3
0.200 Biomarker disease BEFREE Importantly, genetic deficiencies in several metabolite repair enzymes lead to 'inborn errors of metabolite repair', such as L-2-hydroxyglutaric aciduria, D-2-hydroxyglutaric aciduria, 'ubiquitous glucose-6-phosphatase' (G6PC3) deficiency, the neutropenia present in Glycogen Storage Disease type Ib or defects in the enzymes that repair the hydrated forms of NADH or NADPH. 31691304 2020
Entrez Id: 92579
Gene Symbol: G6PC3
G6PC3
0.200 GeneticVariation disease BEFREE In conclusion, we show that the neutropenia in patients with G6PC3 or G6PT mutations is a metabolite-repair deficiency, caused by a failure to eliminate the nonclassical metabolite 1,5AG6P. 30626647 2019
Entrez Id: 92579
Gene Symbol: G6PC3
G6PC3
0.200 GeneticVariation disease BEFREE Phenotypic Heterogeneity of Neutropenia and Gastrointestinal Illness Associated with G6PC3 Founder Mutation. 27571123 2016
Entrez Id: 92579
Gene Symbol: G6PC3
G6PC3
0.200 Biomarker disease BEFREE Screening of all combined immune deficiencies with neutropenia may help to uncover the whole spectra of G6PC3 deficiency. 26479985 2015
Entrez Id: 92579
Gene Symbol: G6PC3
G6PC3
0.200 Biomarker disease BEFREE Glucose-6-phosphatase-β (G6Pase-β or G6PC3) deficiency is characterized by neutropenia and dysfunction in both neutrophils and macrophages. 25492228 2015
Entrez Id: 92579
Gene Symbol: G6PC3
G6PC3
0.200 Biomarker disease BEFREE The reported patient had binucleotide deletion mutation in G6PC3 and displayed the full spectrum of clinical manifestations associated with G6PC3 deficiency including neutropenia. 24796372 2014
Entrez Id: 92579
Gene Symbol: G6PC3
G6PC3
0.200 GeneticVariation disease BEFREE Mutations in G6PC3 have been identified as the cause of neutropenia in a minority of previously molecularly undefined cases. 23196894 2013
Entrez Id: 92579
Gene Symbol: G6PC3
G6PC3
0.200 Biomarker disease BEFREE G6PC3 deficiency can also result in isolated non-syndromic severe neutropenia. 23758768 2013
Entrez Id: 92579
Gene Symbol: G6PC3
G6PC3
0.200 GeneticVariation disease BEFREE A case of syndromic neutropenia and mutation in G6PC3. 21285905 2011
Entrez Id: 92579
Gene Symbol: G6PC3
G6PC3
0.200 GeneticVariation disease BEFREE Conventional dideoxy sequencing confirmed pathogenic mutations in SLC45A2, associated with OCA type 4 (OCA-4), and G6PC3, associated with neutropenia. 21677667 2011
Entrez Id: 92579
Gene Symbol: G6PC3
G6PC3
0.200 GeneticVariation disease BEFREE Two cases of syndromic neutropenia with a report of novel mutation in G6PC3. 21891829 2011
Entrez Id: 92579
Gene Symbol: G6PC3
G6PC3
0.200 AlteredExpression disease BEFREE Thus, myelokathexis associated with abnormally high neutrophil CXCR4 expression may contribute to neutropenia in G6PC3 deficiency and responds well to granulocyte colony-stimulating factor. 20616219 2010
Entrez Id: 92579
Gene Symbol: G6PC3
G6PC3
0.200 Biomarker disease BEFREE Enhanced neutrophil ER stress and apoptosis underlie neutropenia in G6PC3 deficiency, but the exact functional role of G6Pase-β in neutrophils remains unknown. 20498302 2010
Entrez Id: 92579
Gene Symbol: G6PC3
G6PC3
0.200 Biomarker disease BEFREE Inactivation of either G6PT or G6Pase-β increases neutrophil apoptosis, which underlies, at least in part, neutrophil loss (neutropenia) and dysfunction in GSD-Ib and G6Pase-β deficiency. 20975743 2010
Entrez Id: 92579
Gene Symbol: G6PC3
G6PC3
0.200 Biomarker disease LHGDN A syndrome with congenital neutropenia and mutations in G6PC3. 19118303 2009
Entrez Id: 92579
Gene Symbol: G6PC3
G6PC3
0.200 Biomarker disease HPO