Gene: G6PC ×
Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2538
Gene Symbol: G6PC
G6PC 		0.700 CausalMutation disease CLINVAR Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control. 28397058 2017
Entrez Id: 2538
Gene Symbol: G6PC
G6PC 		0.700 CausalMutation disease CLINVAR Cataract and optic disk drusen in a patient with glycogenosis and di George syndrome: clinical and molecular report. 28659124 2017
Entrez Id: 2538
Gene Symbol: G6PC
G6PC 		0.700 CausalMutation disease CLINVAR Molecular analysis of glycogen storage disease type Ia in Iranian Azeri Turks: identification of a novel mutation. 28360385 2017
Entrez Id: 2538
Gene Symbol: G6PC
G6PC 		0.700 GeneticVariation disease CLINVAR Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control. 28397058 2017
Entrez Id: 2538
Gene Symbol: G6PC
G6PC 		0.700 GeneticVariation disease CLINVAR Regression of hepatocellular adenomas with strict dietary therapy in patients with glycogen storage disease type I. 25308557 2015
Entrez Id: 2538
Gene Symbol: G6PC
G6PC 		0.700 CausalMutation disease CLINVAR Regression of hepatocellular adenomas with strict dietary therapy in patients with glycogen storage disease type I. 25308557 2015
Entrez Id: 2538
Gene Symbol: G6PC
G6PC 		0.700 CausalMutation disease CLINVAR Three novel mutations of the G6PC gene identified in Chinese patients with glycogen storage disease type Ia. 24980439 2015
Entrez Id: 2538
Gene Symbol: G6PC
G6PC 		0.700 CausalMutation disease CLINVAR Disease variants in genomes of 44 centenarians. 25333069 2014
Entrez Id: 2538
Gene Symbol: G6PC
G6PC 		0.700 GeneticVariation disease CLINVAR Molecular mechanisms of neutrophil dysfunction in glycogen storage disease type Ib. 24565827 2014
Entrez Id: 2538
Gene Symbol: G6PC
G6PC 		0.700 CausalMutation disease CLINVAR Molecular mechanisms of neutrophil dysfunction in glycogen storage disease type Ib. 24565827 2014
Entrez Id: 2538
Gene Symbol: G6PC
G6PC 		0.700 CausalMutation disease CLINVAR Molecular characterization of hepatocellular adenomas developed in patients with glycogen storage disease type I. 23046672 2013
Entrez Id: 2538
Gene Symbol: G6PC
G6PC 		0.700 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: 2538
Gene Symbol: G6PC
G6PC 		0.700 CausalMutation disease CLINVAR Determining mutations in G6PC and SLC37A4 genes in a sample of Brazilian patients with glycogen storage disease types Ia and Ib. 24385852 2013
Entrez Id: 2538
Gene Symbol: G6PC
G6PC 		0.700 CausalMutation disease CLINVAR Rapid screening of 12 common mutations in Turkish GSD 1a patients using electronic DNA microarray. 23352793 2013
Entrez Id: 2538
Gene Symbol: G6PC
G6PC 		0.700 CausalMutation disease CLINVAR Current status of hepatic glycogen storage disease in Japan: clinical manifestations, treatments and long-term outcomes. 23486339 2013
Entrez Id: 2538
Gene Symbol: G6PC
G6PC 		0.700 CausalMutation disease CLINVAR Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin. 22899091 2013
Entrez Id: 2538
Gene Symbol: G6PC
G6PC 		0.700 CausalMutation disease CLINVAR Personalized genomic disease risk of volunteers. 24082139 2013
Entrez Id: 2538
Gene Symbol: G6PC
G6PC 		0.700 GeneticVariation disease CLINVAR Rapid screening of 12 common mutations in Turkish GSD 1a patients using electronic DNA microarray. 23352793 2013
Entrez Id: 2538
Gene Symbol: G6PC
G6PC 		0.700 GeneticVariation disease CLINVAR Molecular characterization of hepatocellular adenomas developed in patients with glycogen storage disease type I. 23046672 2013
Entrez Id: 2538
Gene Symbol: G6PC
G6PC 		0.700 CausalMutation disease CLINVAR Glycogen storage disease type Ia: linkage of glucose, glycogen, lactic acid, triglyceride, and uric acid metabolism. 23312056 2013
Entrez Id: 2538
Gene Symbol: G6PC
G6PC 		0.700 GeneticVariation disease CLINVAR New insights into the organisation and intracellular localisation of the two subunits of glucose-6-phosphatase. 21983240 2012
Entrez Id: 2538
Gene Symbol: G6PC
G6PC 		0.700 CausalMutation disease CLINVAR A novel type heterozygous mutation in the glucose-6-phosphatase gene in a Chinese patient with glycogen storage disease Ia. 23000067 2012
Entrez Id: 2538
Gene Symbol: G6PC
G6PC 		0.700 CausalMutation disease CLINVAR Glucose-6-phosphatase deficiency. 21599942 2011
Entrez Id: 2538
Gene Symbol: G6PC
G6PC 		0.700 CausalMutation disease CLINVAR Chromosomal and genetic alterations in human hepatocellular adenomas associated with type Ia glycogen storage disease. 19762333 2009
Entrez Id: 2538
Gene Symbol: G6PC
G6PC 		0.700 CausalMutation disease CLINVAR Emerging therapies for glycogen storage disease type I. 19541498 2009