SLC2A2, solute carrier family 2 member 2, 6514

N. diseases: 20; N. variants: 28
Disease: Fanconi-Bickel Syndrome ×
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909744
rs121909744
Entrez Id: 6514
Gene Symbol: SLC2A2
SLC2A2
CUI: C3495427
Disease:
Fanconi-Bickel Syndrome 		0.800 GeneticVariation UNIPROT Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome. 11044475 2000
dbSNP: rs121909744
rs121909744
Entrez Id: 6514
Gene Symbol: SLC2A2
SLC2A2
CUI: C3495427
Disease:
Fanconi-Bickel Syndrome 		0.800 GeneticVariation UNIPROT A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato-renal glycogenosis with Fanconi syndrome and low phosphorylase kinase activity. 10987651 1999
dbSNP: rs121909744
rs121909744
Entrez Id: 6514
Gene Symbol: SLC2A2
SLC2A2
CUI: C3495427
Disease:
Fanconi-Bickel Syndrome 		A 0.800 CausalMutation CLINVAR