rs786204740, 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
0.700 GeneticVariation CLINVAR Homology modeling of the human microsomal glucose 6-phosphate transporter explains the mutations that cause the glycogen storage disease type Ib. 15260472 2004
Glucose-6-phosphate transport defect
CUI: C0268146
Disease: Glucose-6-phosphate transport defect
0.700 GeneticVariation CLINVAR Glycogen storage disease type I: diagnosis and phenotype/genotype correlation. 12373566 2002
Glucose-6-phosphate transport defect
CUI: C0268146
Disease: Glucose-6-phosphate transport defect
0.700 GeneticVariation CLINVAR Structure-function analysis of the glucose-6-phosphate transporter deficient in glycogen storage disease type Ib. 12444104 2002
Glucose-6-phosphate transport defect
CUI: C0268146
Disease: Glucose-6-phosphate transport defect
0.700 GeneticVariation CLINVAR The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a. 10482962 1999