Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 Biomarker disease BEFREE GSD-Ib is caused by a deficiency of glucose-6-phosphate transporter (G6PT). 31705665 2020
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 GeneticVariation disease BEFREE Glycogen storage disease type Ib (GSD-Ib) is an inherited metabolic disorder caused by autosomal recessive mutations in SLC37A4 coding for the glucose-6-phosphate transporter. 31536830 2020
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 Biomarker disease BEFREE CRISPR/Cas9 genome editing of SLC37A4 gene elucidates the role of molecular markers of endoplasmic reticulum stress and apoptosis in renal involvement in glycogen storage disease type Ib. 30951856 2019
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 Biomarker disease BEFREE The safety and efficacy of several G6PT-expressing recombinant adeno-associated virus pseudotype 2/8 vectors have been examined in murine GSD-Ib. 29663270 2018
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 Biomarker disease BEFREE This study demonstrates that G6PT is essential for proliferation and differentiation of MSCs, providing important insights into the GSD-Ib phenotypes. 29238966 2018
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 Biomarker disease BEFREE G6PT deficiency is responsible for glycogen storage disease type Ib (GSD-Ib), an autosomal recessive disorder associated with both defective metabolic and myeloid phenotypes. 29719821 2018
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 Biomarker disease BEFREE The conditional mice we have generated represent an excellent tool to study the tissue-specific role of the G6PT gene and the mechanism of long-term complications in GSD1b. 29967951 2018
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 GeneticVariation disease BEFREE Genetic characterization of GSD I in Serbian population revealed unexpectedly high incidence of GSD Ib and 3 novel SLC37A4 variants. 28685844 2018
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 CausalMutation disease CLINVAR Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib. 28224773 2017
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 GeneticVariation disease BEFREE Nine different pathogenic SLC37A4 mutations were identified in the nine patients with GSD Ib. 28224773 2017
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 AlteredExpression disease BEFREE This study suggests that deficiencies in G6PT cause impairment in neutrophil adhesion and migration via aberrant expression of β2 integrins, and our finding should facilitate the development of novel therapies for GSD-Ib. 27864142 2017
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 Biomarker disease BEFREE Both vectors corrected hepatic G6PT deficiency in murine GSD-Ib but the G6PC promoter/enhancer was more efficacious. 28973635 2017
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 GeneticVariation disease CLINVAR Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib. 28224773 2017
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 CausalMutation disease CLINVAR Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing. 26913919 2016
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 CausalMutation disease CLINVAR Esophageal Stricture Secondary to Candidiasis in a Child with Glycogen Storage Disease 1b. 27066451 2016
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 Biomarker disease BEFREE Disorders of the glucose-6-phosphatase (G6Pase)/glucose-6-phosphate transporter (G6PT) complexes consist of three subtypes: glycogen storage disease type Ia (GSD-Ia), deficient in the liver/kidney/intestine-restricted G6Pase-α (or G6PC); GSD-Ib, deficient in a ubiquitously expressed G6PT (or SLC37A4); and G6Pase-β deficiency or severe congenital neutropenia syndrome type 4 (SCN4), deficient in the ubiquitously expressed G6Pase-β (or G6PC3). 25288127 2015
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 GeneticVariation disease CLINVAR Identification of glucose-6-phosphate transporter as a key regulator functioning at the autophagy initiation step. 25982172 2015
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 CausalMutation disease CLINVAR Molecular mechanisms of neutrophil dysfunction in glycogen storage disease type Ib. 24565827 2014
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 CausalMutation disease CLINVAR Involvement of endocrine system in a patient affected by glycogen storage disease 1b: speculation on the role of autoimmunity. 24646511 2014
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 GeneticVariation disease CLINVAR Molecular mechanisms of neutrophil dysfunction in glycogen storage disease type Ib. 24565827 2014
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 Biomarker disease BEFREE We now show that G6PT-deficient neutrophils from GSD-Ib patients are similarly impaired. 24565827 2014
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 GeneticVariation disease CLINVAR The SLC37 family of sugar-phosphate/phosphate exchangers. 24745989 2014
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 Biomarker disease GENOMICS_ENGLAND Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics. 25356975 2014
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 GeneticVariation disease CLINVAR Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin. 22899091 2013