Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C2609414
Disease: Acute kidney injury
Acute kidney injury 		0.400 Biomarker disease HPO
CUI: C0221333
Disease: Hypouricemia
Hypouricemia 		0.200 Biomarker phenotype HPO
CUI: C0022672
Disease: Acute Kidney Tubular Necrosis
Acute Kidney Tubular Necrosis 		0.100 Biomarker disease HPO
CUI: C0403719
Disease: Uric acid urolithiasis
Uric acid urolithiasis 		0.100 Biomarker disease HPO
CUI: C0558595
Disease: Uric acid renal calculus
Uric acid renal calculus 		0.100 Biomarker disease HPO
CUI: C0878672
Disease: Increased urinary urate
Increased urinary urate 		0.100 Biomarker phenotype HPO
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		0.800 GeneticVariation disease UNIPROT Molecular identification of a renal urate anion exchanger that regulates blood urate levels. 12024214 2002
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		0.800 CausalMutation disease CLINVAR Molecular identification of a renal urate anion exchanger that regulates blood urate levels. 12024214 2002
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		0.800 Biomarker disease CTD_human This is the first report of the 2 male siblings of familial renal hypouricemia complicated with exercise-induced ARF, with definite demonstration of genetic abnormality in the responsible gene (URAT1). 14655203 2003
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		0.800 CausalMutation disease CLINVAR This is the first report of the 2 male siblings of familial renal hypouricemia complicated with exercise-induced ARF, with definite demonstration of genetic abnormality in the responsible gene (URAT1). 14655203 2003
CUI: C2609414
Disease: Acute kidney injury
Acute kidney injury 		0.400 Biomarker disease CTD_human Two male siblings with hereditary renal hypouricemia and exercise-induced ARF. 14655203 2003
CUI: C0022660
Disease: Kidney Failure, Acute
Kidney Failure, Acute 		0.350 Biomarker disease CTD_human This is the first report of the 2 male siblings of familial renal hypouricemia complicated with exercise-induced ARF, with definite demonstration of genetic abnormality in the responsible gene (URAT1). 14655203 2003
CUI: C0022660
Disease: Kidney Failure, Acute
Kidney Failure, Acute 		0.350 GeneticVariation disease BEFREE This is the first report of the 2 male siblings of familial renal hypouricemia complicated with exercise-induced ARF, with definite demonstration of genetic abnormality in the responsible gene (URAT1). 14655203 2003
CUI: C1565662
Disease: Acute Kidney Insufficiency
Acute Kidney Insufficiency 		0.300 Biomarker disease CTD_human Two male siblings with hereditary renal hypouricemia and exercise-induced ARF. 14655203 2003
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		0.800 CausalMutation disease CLINVAR The SLC22A12 gene was sequenced in 32 unrelated idiopathic renal hypouricemia patients, and the relationships of serum urate levels, and CUA/creatinine clearance (Ccr) to SLC22A12 genotype were examined. 14694169 2004
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		0.800 GeneticVariation disease BEFREE The authors recently established that urate was reabsorbed via URAT1 on the tubular apical membrane and that mutations in SLC22A12 encoding URAT1 cause renal hypouricemia. 14694169 2004
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		0.800 GeneticVariation disease UNIPROT The SLC22A12 gene was sequenced in 32 unrelated idiopathic renal hypouricemia patients, and the relationships of serum urate levels, and CUA/creatinine clearance (Ccr) to SLC22A12 genotype were examined. 14694169 2004
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		0.800 Biomarker disease CTD_human The SLC22A12 gene was sequenced in 32 unrelated idiopathic renal hypouricemia patients, and the relationships of serum urate levels, and CUA/creatinine clearance (Ccr) to SLC22A12 genotype were examined. 14694169 2004
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		0.800 GeneticVariation disease CLINVAR The SLC22A12 gene was sequenced in 32 unrelated idiopathic renal hypouricemia patients, and the relationships of serum urate levels, and CUA/creatinine clearance (Ccr) to SLC22A12 genotype were examined. 14694169 2004
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		0.800 CausalMutation disease CLINVAR The W258X mutation in SLC22A12 is the predominant cause of Japanese renal hypouricemia. 15054642 2004
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		0.800 GeneticVariation disease BEFREE The W258X mutation in SLC22A12 is the predominant cause of Japanese renal hypouricemia. 15054642 2004
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.010 GeneticVariation disease BEFREE One family carrying no mutation in the UMOD gene showed no linkage to the medullary cystic kidney disease type 1 (MCKD1) locus, the genes of hepatocyte nuclear factor-1beta (HNF-1beta), or urate transporters URAT1 and hUAT. 15086896 2004
CUI: C2939174
Disease: Medullary cystic disease
Medullary cystic disease 		0.010 GeneticVariation disease BEFREE One family carrying no mutation in the UMOD gene showed no linkage to the medullary cystic kidney disease type 1 (MCKD1) locus, the genes of hepatocyte nuclear factor-1beta (HNF-1beta), or urate transporters URAT1 and hUAT. 15086896 2004
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		0.800 CausalMutation disease CLINVAR A high prevalence of renal hypouricemia caused by inactive SLC22A12 in Japanese. 15327384 2004