Gene: TRAPPC4 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80356490
rs80356490
SLC37A4 ; TRAPPC4
0.800 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: rs121908980
rs121908980
SLC37A4 ; TRAPPC4
0.800 GeneticVariation 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
dbSNP: rs80356490
rs80356490
SLC37A4 ; TRAPPC4
0.800 GeneticVariation 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
dbSNP: rs121908980
rs121908980
SLC37A4 ; TRAPPC4
0.800 GeneticVariation UNIPROT Glycogen storage disease type Ib: the first case in Taiwan. 19579760

2009
dbSNP: rs80356490
rs80356490
SLC37A4 ; TRAPPC4
0.800 GeneticVariation UNIPROT Glycogen storage disease type Ib: the first case in Taiwan. 19579760

2009
dbSNP: rs80356490
rs80356490
SLC37A4 ; TRAPPC4
A 0.800 CausalMutation CLINVAR Functional analysis of mutations in the glucose-6-phosphate transporter that cause glycogen storage disease type Ib. 18835800

2008
dbSNP: rs121908980
rs121908980
SLC37A4 ; TRAPPC4
0.800 GeneticVariation UNIPROT A novel mutation (A148V) in the glucose 6-phosphate translocase (SLC37A4) gene in a Korean patient with glycogen storage disease type 1b. 15953877

2005
dbSNP: rs80356490
rs80356490
SLC37A4 ; TRAPPC4
0.800 GeneticVariation UNIPROT A novel mutation (A148V) in the glucose 6-phosphate translocase (SLC37A4) gene in a Korean patient with glycogen storage disease type 1b. 15953877

2005
dbSNP: rs121908980
rs121908980
SLC37A4 ; TRAPPC4
0.800 GeneticVariation UNIPROT Allelic heterogeneity of glycogen storage disease type Ib in French patients: a study of 11 cases. 15669677

2004
dbSNP: rs121908980
rs121908980
SLC37A4 ; TRAPPC4
0.800 GeneticVariation 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
dbSNP: rs80356490
rs80356490
SLC37A4 ; TRAPPC4
0.800 GeneticVariation UNIPROT Allelic heterogeneity of glycogen storage disease type Ib in French patients: a study of 11 cases. 15669677

2004
dbSNP: rs80356490
rs80356490
SLC37A4 ; TRAPPC4
0.800 GeneticVariation 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
dbSNP: rs121908980
rs121908980
SLC37A4 ; TRAPPC4
0.800 GeneticVariation UNIPROT Novel missense mutation (Y24H) in the G6PT1 gene causing glycogen storage disease type 1b. 12409273

2002
dbSNP: rs121908980
rs121908980
SLC37A4 ; TRAPPC4
0.800 GeneticVariation UNIPROT Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex. 11949931

2002
dbSNP: rs80356490
rs80356490
SLC37A4 ; TRAPPC4
A 0.800 CausalMutation CLINVAR Structure-function analysis of the glucose-6-phosphate transporter deficient in glycogen storage disease type Ib. 12444104

2002
dbSNP: rs80356490
rs80356490
SLC37A4 ; TRAPPC4
0.800 GeneticVariation UNIPROT Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex. 11949931

2002
dbSNP: rs80356490
rs80356490
SLC37A4 ; TRAPPC4
0.800 GeneticVariation UNIPROT Novel missense mutation (Y24H) in the G6PT1 gene causing glycogen storage disease type 1b. 12409273

2002
dbSNP: rs121908980
rs121908980
SLC37A4 ; TRAPPC4
0.800 GeneticVariation UNIPROT 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
dbSNP: rs121908980
rs121908980
SLC37A4 ; TRAPPC4
0.800 GeneticVariation UNIPROT Mutation analysis in glycogen storage disease type 1 non-a. 11071391

2000
dbSNP: rs121908980
rs121908980
SLC37A4 ; TRAPPC4
0.800 GeneticVariation 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
dbSNP: rs121908980
rs121908980
SLC37A4 ; TRAPPC4
0.800 GeneticVariation UNIPROT Glycogen storage disease type Ib without neutropenia. 10931421

2000
dbSNP: rs80356490
rs80356490
SLC37A4 ; TRAPPC4
A 0.800 CausalMutation CLINVAR Structural requirements for the stability and microsomal transport activity of the human glucose 6-phosphate transporter. 10940311

2000
dbSNP: rs80356490
rs80356490
SLC37A4 ; TRAPPC4
0.800 GeneticVariation UNIPROT Glycogen storage disease type Ib without neutropenia. 10931421

2000
dbSNP: rs80356490
rs80356490
SLC37A4 ; TRAPPC4
0.800 GeneticVariation UNIPROT 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
dbSNP: rs80356490
rs80356490
SLC37A4 ; TRAPPC4
0.800 GeneticVariation 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