Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2538
Gene Symbol: G6PC
G6PC
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia
0.700 CausalMutation 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
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia
0.700 CausalMutation 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
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia
0.700 CausalMutation 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
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia
0.700 GeneticVariation 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
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia
0.700 GeneticVariation 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
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia
0.700 CausalMutation 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
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia
0.700 CausalMutation 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
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia
0.700 CausalMutation CLINVAR Disease variants in genomes of 44 centenarians. 25333069

2014

Entrez Id: 2538
Gene Symbol: G6PC
G6PC
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia
0.700 GeneticVariation CLINVAR Molecular mechanisms of neutrophil dysfunction in glycogen storage disease type Ib. 24565827

2014

Entrez Id: 2538
Gene Symbol: G6PC
G6PC
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia
0.700 CausalMutation CLINVAR Molecular mechanisms of neutrophil dysfunction in glycogen storage disease type Ib. 24565827

2014

Entrez Id: 2538
Gene Symbol: G6PC
G6PC
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia
0.700 CausalMutation CLINVAR Molecular characterization of hepatocellular adenomas developed in patients with glycogen storage disease type I. 23046672

2013

Entrez Id: 2538
Gene Symbol: G6PC
G6PC
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia
0.700 GeneticVariation 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
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia
0.700 CausalMutation 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
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia
0.700 CausalMutation 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
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia
0.700 CausalMutation 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
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia
0.700 CausalMutation 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
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia
0.700 CausalMutation CLINVAR Personalized genomic disease risk of volunteers. 24082139

2013

Entrez Id: 2538
Gene Symbol: G6PC
G6PC
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia
0.700 GeneticVariation 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
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia
0.700 GeneticVariation CLINVAR Molecular characterization of hepatocellular adenomas developed in patients with glycogen storage disease type I. 23046672

2013

Entrez Id: 2538
Gene Symbol: G6PC
G6PC
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia
0.700 CausalMutation 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
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia
0.700 GeneticVariation 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
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia
0.700 CausalMutation 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
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia
0.700 CausalMutation CLINVAR Glucose-6-phosphatase deficiency. 21599942

2011

Entrez Id: 2538
Gene Symbol: G6PC
G6PC
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia
0.700 CausalMutation 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
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia
0.700 CausalMutation CLINVAR Emerging therapies for glycogen storage disease type I. 19541498

2009