SLC2A9, solute carrier family 2 member 9, 56606

N. diseases: 74; N. variants: 389
Disease: Hypouricemia, Renal, 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs776127501
rs776127501
Entrez Id: 56606
Gene Symbol: SLC2A9
SLC2A9
CUI: C2677549
Disease:
Hypouricemia, Renal, 2 		0.800 GeneticVariation UNIPROT Two novel homozygous SLC2A9 mutations cause renal hypouricemia type 2. 21810765 2012
dbSNP: rs776127501
rs776127501
Entrez Id: 56606
Gene Symbol: SLC2A9
SLC2A9
CUI: C2677549
Disease:
Hypouricemia, Renal, 2 		0.800 GeneticVariation UNIPROT Homozygous SLC2A9 mutations cause severe renal hypouricemia. 19926891 2010
dbSNP: rs776127501
rs776127501
Entrez Id: 56606
Gene Symbol: SLC2A9
SLC2A9
CUI: C2677549
Disease:
Hypouricemia, Renal, 2 		0.800 GeneticVariation UNIPROT Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia. 19026395 2008
dbSNP: rs776127501
rs776127501
Entrez Id: 56606
Gene Symbol: SLC2A9
SLC2A9
CUI: C2677549
Disease:
Hypouricemia, Renal, 2 		A 0.800 CausalMutation CLINVAR