SLC2A9, solute carrier family 2 member 9, 56606

N. diseases: 74; N. variants: 389
Disease: Hypouricemia, Renal, 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2677549
Disease: Hypouricemia, Renal, 2
Hypouricemia, Renal, 2 		0.720 GeneticVariation disease BEFREE In conclusion, to the best of our knowledge, this is the first report of a RHUC2 patient with a GLUT9 mutation, p.W286X, which may be a pathogenic mutation of RHUC2. 31638209 2019
CUI: C2677549
Disease: Hypouricemia, Renal, 2
Hypouricemia, Renal, 2 		0.720 Biomarker disease GENOMICS_ENGLAND This is the second report indicating RHUC2 patient due to GLUT9 mutation R380W. 24940677 2014
CUI: C2677549
Disease: Hypouricemia, Renal, 2
Hypouricemia, Renal, 2 		0.720 GeneticVariation disease BEFREE This is the second report indicating RHUC2 patient due to GLUT9 mutation R380W. 24940677 2014
CUI: C2677549
Disease: Hypouricemia, Renal, 2
Hypouricemia, Renal, 2 		0.720 Biomarker disease GENOMICS_ENGLAND Two novel homozygous SLC2A9 mutations cause renal hypouricemia type 2. 21810765 2012
CUI: C2677549
Disease: Hypouricemia, Renal, 2
Hypouricemia, Renal, 2 		0.720 GeneticVariation disease UNIPROT Two novel homozygous SLC2A9 mutations cause renal hypouricemia type 2. 21810765 2012
CUI: C2677549
Disease: Hypouricemia, Renal, 2
Hypouricemia, Renal, 2 		0.720 GeneticVariation disease UNIPROT Homozygous SLC2A9 mutations cause severe renal hypouricemia. 19926891 2010
CUI: C2677549
Disease: Hypouricemia, Renal, 2
Hypouricemia, Renal, 2 		0.720 GeneticVariation disease UNIPROT Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia. 19026395 2008
CUI: C2677549
Disease: Hypouricemia, Renal, 2
Hypouricemia, Renal, 2 		0.720 Biomarker disease GENOMICS_ENGLAND
CUI: C2677549
Disease: Hypouricemia, Renal, 2
Hypouricemia, Renal, 2 		0.720 CausalMutation disease CLINVAR
CUI: C2677549
Disease: Hypouricemia, Renal, 2
Hypouricemia, Renal, 2 		0.720 Biomarker disease CTD_human