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: rs121909747
rs121909747
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: rs28928874
rs28928874
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: rs121909747
rs121909747
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: rs28928874
rs28928874
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
dbSNP: rs121909747
rs121909747
Entrez Id: 6514
Gene Symbol: SLC2A2
SLC2A2
CUI: C3495427
Disease:
Fanconi-Bickel Syndrome 		G 0.800 CausalMutation CLINVAR
dbSNP: rs28928874
rs28928874
Entrez Id: 6514
Gene Symbol: SLC2A2
SLC2A2
CUI: C3495427
Disease:
Fanconi-Bickel Syndrome 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121909743
rs121909743
Entrez Id: 6514
Gene Symbol: SLC2A2
SLC2A2
CUI: C3495427
Disease:
Fanconi-Bickel Syndrome 		A 0.700 CausalMutation CLINVAR Fanconi-Bickel syndrome in two Palestinian children: marked phenotypic variability with identical mutation. 27487919 2016
dbSNP: rs121909743
rs121909743
Entrez Id: 6514
Gene Symbol: SLC2A2
SLC2A2
CUI: C3495427
Disease:
Fanconi-Bickel Syndrome 		A 0.700 CausalMutation CLINVAR Phenotypic variability in patients with fanconi-bickel syndrome with identical mutations. 24718840 2015
dbSNP: rs1560033414
rs1560033414
Entrez Id: 6514
Gene Symbol: SLC2A2
SLC2A2
CUI: C3495427
Disease:
Fanconi-Bickel Syndrome 		TA 0.700 CausalMutation CLINVAR [SLC2A2 gene analysis in three Chinese children with Fanconi-Bickel syndrome]. 25919556 2015
dbSNP: rs121909743
rs121909743
Entrez Id: 6514
Gene Symbol: SLC2A2
SLC2A2
CUI: C3495427
Disease:
Fanconi-Bickel Syndrome 		A 0.700 CausalMutation CLINVAR Two cases of Fanconi-Bickel syndrome: first report from China with novel mutations of SLC2A2 gene. 22145468 2011
dbSNP: rs121909743
rs121909743
Entrez Id: 6514
Gene Symbol: SLC2A2
SLC2A2
CUI: C3495427
Disease:
Fanconi-Bickel Syndrome 		A 0.700 CausalMutation CLINVAR The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome. 11810292 2002
dbSNP: rs1114167428
rs1114167428
Entrez Id: 6514
Gene Symbol: SLC2A2
SLC2A2
CUI: C3495427
Disease:
Fanconi-Bickel Syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121909742
rs121909742
Entrez Id: 6514
Gene Symbol: SLC2A2
SLC2A2
CUI: C3495427
Disease:
Fanconi-Bickel Syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121909745
rs121909745
Entrez Id: 6514
Gene Symbol: SLC2A2
SLC2A2
CUI: C3495427
Disease:
Fanconi-Bickel Syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121909746
rs121909746
Entrez Id: 6514
Gene Symbol: SLC2A2
SLC2A2
CUI: C3495427
Disease:
Fanconi-Bickel Syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1553784980
rs1553784980
Entrez Id: 6514
Gene Symbol: SLC2A2
SLC2A2
CUI: C3495427
Disease:
Fanconi-Bickel Syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1553785033
rs1553785033
Entrez Id: 6514
Gene Symbol: SLC2A2
SLC2A2
CUI: C3495427
Disease:
Fanconi-Bickel Syndrome 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1553785722
rs1553785722
Entrez Id: 6514
Gene Symbol: SLC2A2
SLC2A2
CUI: C3495427
Disease:
Fanconi-Bickel Syndrome 		TA 0.700 CausalMutation CLINVAR
dbSNP: rs1553786361
rs1553786361
Entrez Id: 6514
Gene Symbol: SLC2A2
SLC2A2
CUI: C3495427
Disease:
Fanconi-Bickel Syndrome 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1560035336
rs1560035336
Entrez Id: 6514
Gene Symbol: SLC2A2
SLC2A2
CUI: C3495427
Disease:
Fanconi-Bickel Syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs769888108
rs769888108
Entrez Id: 6514
Gene Symbol: SLC2A2
SLC2A2
CUI: C3495427
Disease:
Fanconi-Bickel Syndrome 		A 0.700 CausalMutation CLINVAR