SLC2A9, solute carrier family 2 member 9, 56606

N. diseases: 74; N. variants: 389
Disease: Renal hypouricemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		0.600 Biomarker disease BEFREE The currently known genes responsible for RHUC are SLC22A12 and SLC2A9. 31771519 2019
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		0.600 GeneticVariation disease BEFREE URAT1 and GLUT9 mutations in Spanish patients with renal hypouricemia. 29486147 2018
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		0.600 Biomarker disease BEFREE Urate transporter 1 (URAT1/SLC22A12), a urate transporter gene, is a causative gene for renal hypouricemia type 1. 26821810 2016
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		0.600 GeneticVariation disease BEFREE Functional studies were performed for these novel variants and for previously reported variants p.I118HfsX27, p.G216R and p.N333S in GLUT9 responsible for renal hypouricemia in three probands from Czech Republic and United Kingdom. 26500098 2016
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		0.600 Biomarker disease BEFREE We have previously reported that urate transporter 1 (URAT1/SLC22A12) and glucose transporter 9 (GLUT9/SLC2A9) are causative genes for renal hypouricemia type 1 (RHUC1) and renal hypouricemia type 2 (RHUC2), respectively. 24940677 2014
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		0.600 Biomarker disease BEFREE Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9 compound heterozygosity. 24397858 2014
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		0.600 GeneticVariation disease BEFREE Thus our report identifies two novel loss-of-function mutations (c.151delG in URAT1 and p.P516T in GLUT9) which cause RHUC and renal dysfunction in two independent RHUC pedigrees. 23043931 2013
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		0.600 GeneticVariation disease BEFREE We suggest that PRES is not due to severe hypouricemia caused by SLC2A9 mutation but is a manifestation of severe EIAKI associated with renal hypouricemia. 23525542 2013
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		0.600 GeneticVariation disease BEFREE Fourteen (82.4%) patients showed hypouricemia, and all of the patients with hypouricemia had either homozygous or compound heterozygous mutations in SLC22A12 or SLC2A9, which confirmed that all of them had renal hypouricemia. 24107611 2013
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		0.600 GermlineCausalMutation disease ORPHANET We have recently shown that loss-of-function homozygous mutations of another UA transporter, GLUT9, cause a severe type of hereditary renal hypouricemia with similar complications (RHUC2). 21810765 2012
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		0.600 GeneticVariation disease BEFREE Here, we report the case of a girl with severe RHU (serum urate: 5.9 μmol/L [0.1 mg/dL]) associated with recurrent EIARF in whom the disease was caused by a compound heterozygous mutation in SLC2A9, a nonsense mutation in the paternal allele (p.G207X in exon 7), and a large duplication (c.1-2981_1204+16502) in the maternal allele detected by reverse-transcription polymerase chain reaction (PCR), semiquantitative PCR, long PCR, and direct sequencing. 21536615 2011
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		0.600 GeneticVariation disease BEFREE Novel homozygous insertion in SLC2A9 gene caused renal hypouricemia. 21256783 2011
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		0.600 GeneticVariation disease BEFREE Our finding of the defects in SLC22A12 and SLC2A9 genes gives further evidence of the causative genes of primary renal hypouricemia and supports their important role in regulation of serum urate levels in humans. 22132965 2011
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		0.600 GeneticVariation disease BEFREE Pathogenic GLUT9 mutations causing renal hypouricemia type 2 (RHUC2). 22132964 2011
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		0.600 GeneticVariation disease BEFREE Recently, we described severe renal hypouricemia in Israeli patients with uric acid transporter GLUT9 (SLC2A9) loss-of-function mutations. 21148271 2011
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		0.600 Biomarker disease CTD_human Increased expression of SLC2A9 decreases urate excretion from the kidney. 22132990 2011
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		0.600 GeneticVariation disease BEFREE Homozygous SLC2A9 mutations cause severe renal hypouricemia. 19926891 2010
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		0.600 GermlineCausalMutation disease ORPHANET In conclusion, homozygous loss-of-function mutations of GLUT9 cause a total defect of uric acid absorption, leading to severe renal hypouricemia complicated by nephrolithiasis and exercise-induced acute renal failure. 19926891 2010
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		0.600 Biomarker disease BEFREE The in vivo role of GLUT9 is supported by the fact that a renal hypouricemia patient without any mutations in SLC22A12 was found to have a missense mutation in SLC2A9, which reduced urate transport activity in vitro. 18701466 2008
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		0.600 Biomarker disease CTD_human Mutations in the SLC2A9 gene cause hyperuricosuria and hyperuricemia in the dog. 18989453 2008