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 GeneticVariation disease BEFREE Glycogen storage disease type I (GSD-I) is a kind of human genetic disorders and is caused by the deficiency of a microsomal protein, glucose-6-phosphatase-α (G6Pase-α) or glucose-6-phosphate transporter (G6PT) responsible for glucose homeostasis, leading to GSD-Ia or GSD-Ib, respectively. 19756389 2009
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 GeneticVariation disease CLINVAR Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients. 10923042 2000
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 GeneticVariation disease BEFREE Genetic testing of glycogen storage disease type Ib in Japan: five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R. 15059622 2004
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
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 GeneticVariation disease UNIPROT Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11. 9675154 1998
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 GeneticVariation disease CLINVAR Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c. 10518030 1999
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 GeneticVariation disease CLINVAR A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic. 9758626 1998
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 GeneticVariation disease UNIPROT Neutropenia had been observed since 6 months of age, but the diagnosis of GSD Ib was established only at 18 months of age two mutations (c.354_355insC (p. W118fsX12) and c.736T>C (p.W246R)) were detected on his SLC37A4 gene. 19579760 2009
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 GeneticVariation disease CLINVAR Myasthenia gravis in a patient affected by glycogen storage disease type Ib: a further manifestation of an increased risk for autoimmune disorders? 18437526 2008
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 GeneticVariation disease UNIPROT Genetic testing of glycogen storage disease type Ib in Japan: five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R. 15059622 2004
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 GeneticVariation disease UNIPROT Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene. 10482875 1999
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 GeneticVariation disease UNIPROT A novel missense mutation (P191L) in the glucose-6-phosphate translocase gene identified in a Chinese family with glycogen storage disease 1b. 10874322 2000
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 GeneticVariation disease UNIPROT Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c. 10518030 1999
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 GeneticVariation disease BEFREE Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib. 9428641 1997
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 GeneticVariation disease UNIPROT Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib. 9428641 1997
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 GeneticVariation disease CLINVAR The glucose-6-phosphate transporter is a phosphate-linked antiporter deficient in glycogen storage disease type Ib and Ic. 18337460 2008
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 GeneticVariation disease UNIPROT Mutation analysis in glycogen storage disease type 1 non-a. 11071391 2000
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 GeneticVariation disease UNIPROT The two major subtypes are GSD-Ia (MIM232200), caused by a deficiency of glucose-6-phosphatase (G6Pase), and GSD-Ib (MIM232220), caused by a deficiency in the glucose-6-phosphate transporter (G6PT). 11949931 2002
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 GeneticVariation disease CLINVAR The two major subtypes are GSD-Ia (MIM232200), caused by a deficiency of glucose-6-phosphatase (G6Pase), and GSD-Ib (MIM232220), caused by a deficiency in the glucose-6-phosphate transporter (G6PT). 11949931 2002
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 GeneticVariation disease CLINVAR Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I. 17307551 2007
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 GeneticVariation disease UNIPROT A novel mutation in SLC37A4 gene in a Sri Lankan boy with glycogen storage disease type Ib associated with very early onset neutropenia. 21629566 2011
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 GeneticVariation disease UNIPROT Structure and mutation analysis of the glycogen storage disease type 1b gene. 9781688 1998
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 GeneticVariation disease CLINVAR Structural requirements for the stability and microsomal transport activity of the human glucose 6-phosphate transporter. 10940311 2000
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 GeneticVariation disease CLINVAR Since these patients, and the four type Ic patients from two families previously studied, shared several mutations with GSD Ib patients, we conclude that their basic defect is in the putative glucose 6-phosphate translocase and that they should be reclassified as GSD Ib. 10482962 1999
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		0.800 GeneticVariation disease BEFREE Genomic structure of the human glucose 6-phosphate translocase gene and novel mutations in the gene of a Japanese patient with glycogen storage disease type Ib. 9856496 1998