rs121908978, SLC37A4

N. diseases: 1
Disease: Glucose-6-phosphate transport defect ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Glucose-6-phosphate transport defect
CUI: C0268146
Disease: Glucose-6-phosphate transport defect
0.800 GeneticVariation UNIPROT Allelic heterogeneity of glycogen storage disease type Ib in French patients: a study of 11 cases. 15669677 2004
Glucose-6-phosphate transport defect
CUI: C0268146
Disease: Glucose-6-phosphate transport defect
0.800 GeneticVariation UNIPROT Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene. 10482875 1999
Glucose-6-phosphate transport defect
CUI: C0268146
Disease: Glucose-6-phosphate transport defect
0.800 GeneticVariation UNIPROT 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
Glucose-6-phosphate transport defect
CUI: C0268146
Disease: Glucose-6-phosphate transport defect
0.800 GeneticVariation UNIPROT The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a. 10482962 1999
Glucose-6-phosphate transport defect
CUI: C0268146
Disease: Glucose-6-phosphate transport defect
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
Glucose-6-phosphate transport defect
CUI: C0268146
Disease: Glucose-6-phosphate transport defect
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
Glucose-6-phosphate transport defect
CUI: C0268146
Disease: Glucose-6-phosphate transport defect
0.800 GeneticVariation UNIPROT Novel missense mutation (Y24H) in the G6PT1 gene causing glycogen storage disease type 1b. 12409273 2002
Glucose-6-phosphate transport defect
CUI: C0268146
Disease: Glucose-6-phosphate transport defect
0.800 GeneticVariation UNIPROT 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
Glucose-6-phosphate transport defect
CUI: C0268146
Disease: Glucose-6-phosphate transport defect
0.800 GeneticVariation UNIPROT Structure and mutation analysis of the glycogen storage disease type 1b gene. 9781688 1998