G6PC, glucose-6-phosphatase catalytic subunit, 2538

N. diseases: 132; N. variants: 61
Disease: Glycogen Storage Disease Type I ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555560149
rs1555560149
Entrez Id: 2538
Gene Symbol: G6PC
G6PC
CUI: C0017920
Disease:
Glycogen Storage Disease Type I 		0.700 GeneticVariation UNIPROT Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics. 25356975 2014
dbSNP: rs1555560149
rs1555560149
Entrez Id: 2538
Gene Symbol: G6PC
G6PC
CUI: C0017920
Disease:
Glycogen Storage Disease Type I 		0.700 GeneticVariation UNIPROT Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population. 15316959 2004
dbSNP: rs1555560149
rs1555560149
Entrez Id: 2538
Gene Symbol: G6PC
G6PC
CUI: C0017920
Disease:
Glycogen Storage Disease Type I 		0.700 GeneticVariation UNIPROT Glycogen storage disease type Ia in Argentina: two novel glucose-6-phosphatase mutations affecting protein stability. 15542400 2004
dbSNP: rs1555560149
rs1555560149
Entrez Id: 2538
Gene Symbol: G6PC
G6PC
CUI: C0017920
Disease:
Glycogen Storage Disease Type I 		0.700 GeneticVariation UNIPROT Mutation spectrum of the glucose-6-phosphatase gene and its implication in molecular diagnosis of Korean patients with glycogen storage disease type Ia. 15151508 2004
dbSNP: rs1555560149
rs1555560149
Entrez Id: 2538
Gene Symbol: G6PC
G6PC
CUI: C0017920
Disease:
Glycogen Storage Disease Type I 		0.700 GeneticVariation UNIPROT Glycogen storage disease type I: diagnosis and phenotype/genotype correlation. 12373566 2002
dbSNP: rs1555560149
rs1555560149
Entrez Id: 2538
Gene Symbol: G6PC
G6PC
CUI: C0017920
Disease:
Glycogen Storage Disease Type I 		0.700 GeneticVariation UNIPROT Identification of a novel missense mutation (T16A) in the glucose-6-phosphatase gene in a Taiwan Chinese patient with glycogen storage disease Ia (Von Gierke disease). 10738005 2000
dbSNP: rs1555560149
rs1555560149
Entrez Id: 2538
Gene Symbol: G6PC
G6PC
CUI: C0017920
Disease:
Glycogen Storage Disease Type I 		0.700 GeneticVariation UNIPROT Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype. 10960498 2000
dbSNP: rs1555560149
rs1555560149
Entrez Id: 2538
Gene Symbol: G6PC
G6PC
CUI: C0017920
Disease:
Glycogen Storage Disease Type I 		0.700 GeneticVariation UNIPROT Identification of mutations in the glucose-6-phosphatase gene in Czech and Slovak patients with glycogen storage disease type ia, including novel mutations K76N, V166A and 540del5. 10874313 2000
dbSNP: rs1555560149
rs1555560149
Entrez Id: 2538
Gene Symbol: G6PC
G6PC
CUI: C0017920
Disease:
Glycogen Storage Disease Type I 		0.700 GeneticVariation UNIPROT A novel missense mutation (H119L) identified in a Taiwan Chinese family with glycogen storage disease Ia (Von Gierke disease). 11058910 2000
dbSNP: rs1555560149
rs1555560149
Entrez Id: 2538
Gene Symbol: G6PC
G6PC
CUI: C0017920
Disease:
Glycogen Storage Disease Type I 		0.700 GeneticVariation UNIPROT Molecular genetic analysis of 40 patients with glycogen storage disease type Ia: 100% mutation detection rate and 5 novel mutations. 10612834 2000
dbSNP: rs1555560149
rs1555560149
Entrez Id: 2538
Gene Symbol: G6PC
G6PC
CUI: C0017920
Disease:
Glycogen Storage Disease Type I 		0.700 GeneticVariation UNIPROT Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells. 10748407 2000
dbSNP: rs1555560149
rs1555560149
Entrez Id: 2538
Gene Symbol: G6PC
G6PC
CUI: C0017920
Disease:
Glycogen Storage Disease Type I 		0.700 GeneticVariation UNIPROT Identification of three novel mutations (Q54P, W70X and T108I) in the glucose-6-phosphatase gene of patients with glycogen storage disease type Ia. Mutation in brief no. 256. Online. 10447271 1999
dbSNP: rs1555560149
rs1555560149
Entrez Id: 2538
Gene Symbol: G6PC
G6PC
CUI: C0017920
Disease:
Glycogen Storage Disease Type I 		0.700 GeneticVariation UNIPROT Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia. 10070617 1999
dbSNP: rs1555560149
rs1555560149
Entrez Id: 2538
Gene Symbol: G6PC
G6PC
CUI: C0017920
Disease:
Glycogen Storage Disease Type I 		0.700 GeneticVariation UNIPROT Molecular aspects of glycogen storage disease type Ia in Turkish patients: a novel mutation in the glucose-6-phosphatase gene. 9700612 1998
dbSNP: rs1555560149
rs1555560149
Entrez Id: 2538
Gene Symbol: G6PC
G6PC
CUI: C0017920
Disease:
Glycogen Storage Disease Type I 		0.700 GeneticVariation UNIPROT A novel mutation in a Brazilian patient with glycogen storage disease type 1a. 9700613 1998
dbSNP: rs1555560149
rs1555560149
Entrez Id: 2538
Gene Symbol: G6PC
G6PC
CUI: C0017920
Disease:
Glycogen Storage Disease Type I 		0.700 GeneticVariation UNIPROT Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies. 9332655 1997
dbSNP: rs1555560149
rs1555560149
Entrez Id: 2538
Gene Symbol: G6PC
G6PC
CUI: C0017920
Disease:
Glycogen Storage Disease Type I 		0.700 GeneticVariation UNIPROT Mutation analysis in 24 French patients with glycogen storage disease type 1a. 8733042 1996
dbSNP: rs1555560149
rs1555560149
Entrez Id: 2538
Gene Symbol: G6PC
G6PC
CUI: C0017920
Disease:
Glycogen Storage Disease Type I 		0.700 GeneticVariation UNIPROT Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type Ia. 7655466 1995
dbSNP: rs1555560149
rs1555560149
Entrez Id: 2538
Gene Symbol: G6PC
G6PC
CUI: C0017920
Disease:
Glycogen Storage Disease Type I 		0.700 GeneticVariation UNIPROT Characterization of the mutations in the glucose-6-phosphatase gene in Israeli patients with glycogen storage disease type 1a: R83C in six Jews and a novel V166G mutation in a Muslim Arab. 7623438 1995
dbSNP: rs1555560149
rs1555560149
Entrez Id: 2538
Gene Symbol: G6PC
G6PC
CUI: C0017920
Disease:
Glycogen Storage Disease Type I 		0.700 GeneticVariation UNIPROT Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus. 7573034 1995
dbSNP: rs1555560149
rs1555560149
Entrez Id: 2538
Gene Symbol: G6PC
G6PC
CUI: C0017920
Disease:
Glycogen Storage Disease Type I 		0.700 GeneticVariation UNIPROT Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a. 8182131 1994