SLC2A9, solute carrier family 2 member 9, 56606

N. diseases: 74; N. variants: 389
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 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
CUI: C0221333
Disease: Hypouricemia
Hypouricemia
0.180 Biomarker phenotype HPO
URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 2
0.100 GeneticVariation phenotype CLINVAR
CUI: C0268113
Disease: Familial juvenile gout
Familial juvenile gout
0.010 Biomarker disease BEFREE Familial juvenile gouty nephropathy (FJGN) is thought to develop as a result of an abnormality in the urate transporter. 12472777 2003
CUI: C0022660
Disease: Kidney Failure, Acute
Kidney Failure, Acute
0.070 Biomarker disease BEFREE Recent identification of the urate transporter in the kidney (URAT1, encoded by SLC22A12) led to the molecular elucidation of idiopathic renal hypouricemia, which is a predisposition toward exercise-induce acute renal failure. 15772829 2005
CUI: C3854173
Disease: Pre-renal acute kidney injury
Pre-renal acute kidney injury
0.050 Biomarker disease BEFREE Recent identification of the urate transporter in the kidney (URAT1, encoded by SLC22A12) led to the molecular elucidation of idiopathic renal hypouricemia, which is a predisposition toward exercise-induce acute renal failure. 15772829 2005
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.020 Biomarker group BEFREE Differential subcellular distribution of glucose transporters GLUT1-6 and GLUT9 in human cancer: ultrastructural localization of GLUT1 and GLUT5 in breast tumor tissues. 16523487 2006
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.020 Biomarker group BEFREE Differential subcellular distribution of glucose transporters GLUT1-6 and GLUT9 in human cancer: ultrastructural localization of GLUT1 and GLUT5 in breast tumor tissues. 16523487 2006
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.010 Biomarker group BEFREE Differential subcellular distribution of glucose transporters GLUT1-6 and GLUT9 in human cancer: ultrastructural localization of GLUT1 and GLUT5 in breast tumor tissues. 16523487 2006
CUI: C0018099
Disease: Gout
Gout
0.400 GeneticVariation disease GWASDB The GLUT9 gene is associated with serum uric acid levels in Sardinia and Chianti cohorts. 17997608 2007
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty
0.120 GeneticVariation disease GWASDB The GLUT9 gene is associated with serum uric acid levels in Sardinia and Chianti cohorts. 17997608 2007
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure)
0.100 GeneticVariation phenotype GWASCAT The GLUT9 gene is associated with serum uric acid levels in Sardinia and Chianti cohorts. 17997608 2007
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: 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
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia
0.500 Biomarker disease CTD_human The Dalmatian dog model of hyperuricosuria and hyperuricemia underscores the importance of SLC2A9 for uric acid transport in mammals. 18989453 2008
CUI: C0018099
Disease: Gout
Gout
0.400 Biomarker disease CTD_human SLC2A9 influences uric acid concentrations with pronounced sex-specific effects. 18327256 2008
CUI: C0018099
Disease: Gout
Gout
0.400 GeneticVariation disease GWASDB SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout. 18327257 2008
CUI: C0018099
Disease: Gout
Gout
0.400 GeneticVariation disease GWASDB Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study. 18834626 2008
CUI: C0018099
Disease: Gout
Gout
0.400 Biomarker disease CTD_human SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout. 18327257 2008
CUI: C0018099
Disease: Gout
Gout
0.400 GeneticVariation disease GWASDB Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia. 18179892 2008
CUI: C0018099
Disease: Gout
Gout
0.400 GeneticVariation disease GWASDB SLC2A9 influences uric acid concentrations with pronounced sex-specific effects. 18327256 2008
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty
0.120 GeneticVariation disease GWASDB SLC2A9 influences uric acid concentrations with pronounced sex-specific effects. 18327256 2008