Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
0.500 GeneticVariation disease BEFREE Common dysfunctional variants of ATP binding cassette subfamily G member 2 (Junior blood group) (ABCG2), a high-capacity urate transporter gene, that result in decreased urate excretion are major causes of hyperuricemia and gout. 28968913 2017
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
0.500 GeneticVariation disease LHGDN A new mutation in the HPRT gene has been determined in one patient with complete deficiency of erythrocyte activity, with hyperuricemia and gout but without Lesch-Nyhan disease. 16216473 2006
Entrez Id: 56606
Gene Symbol: SLC2A9
SLC2A9
0.500 GeneticVariation disease BEFREE Population-specific influence of SLC2A9 genotype on the acute hyperuricaemic response to a fructose load. 23349133 2013
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
0.500 GeneticVariation disease BEFREE A patient with hyperuricaemia and gouty arthritis due to a new variant of hypoxanthine-guanine phosphoribosyltransferase is described. 15334740 2004
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
0.500 GeneticVariation disease BEFREE A new mutation in the HPRT gene has been determined in one patient with complete deficiency of erythrocyte activity, with hyperuricemia and gout but without Lesch-Nyhan disease. 16216473 2006
Entrez Id: 56606
Gene Symbol: SLC2A9
SLC2A9
0.500 GeneticVariation disease BEFREE Complex analysis of urate transporters SLC2A9, SLC22A12 and functional characterization of non-synonymous allelic variants of GLUT9 in the Czech population: no evidence of effect on hyperuricemia and gout. 25268603 2014
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
0.500 GeneticVariation disease BEFREE In this study, we analyzed the ABCG2 gene in a hyperuricemia and gout cohort focusing on patients with pediatric-onset, i.e., before 18 years of age. 30894219 2019
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
0.500 GeneticVariation disease BEFREE Mutations in the HPRT gene cause a spectrum of diseases that ranges from hyperuricemia alone to hyperuricemia with profound neurological and behavioral dysfunction. 11336982 2001
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
0.500 GeneticVariation disease BEFREE Because ABCG2 dysfunctional diplotypes were commonly observed in both Caucasians (16.5%) and African-Americans (16.0%), the genotyping of the two ABCG2 dysfunctional variants is useful for evaluating individual differences in the ABCG2 dysfunction which affect the pharmacokinetics of substrate drugs and hyperuricemia risk in all three ethnic groups. 24869748 2014
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
0.500 GeneticVariation disease BEFREE Polymorphism of ABCG2 Gene in Hyperuricemia Patients of Han And Uygur Ethnicity with Phlegm/Non-Phlegm Block in Xinjiang, China. 30197413 2018
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
0.500 GeneticVariation disease GWASCAT Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population. 29124443 2018
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
0.500 GeneticVariation disease BEFREE Alleles of the TCTA repeat in the 3rd intron of the HPRT gene were found to be associated with primary hyperuricemia; consequently, these alleles may be considered risk factors for primary hyperuricemia. 22194167 2011
Entrez Id: 56606
Gene Symbol: SLC2A9
SLC2A9
0.500 GeneticVariation disease BEFREE The SLC2A9 mutation increases the risk for T2DM complicated HUA in Chinese population, which suggested that intron variants between two relatively conserved exons could also be associated with diseases. 30087870 2018
Entrez Id: 56606
Gene Symbol: SLC2A9
SLC2A9
0.500 GeneticVariation disease BEFREE The multidrug ATP-binding cassette, subfamily G, 2 (ABCG2) transporter was recently identified as an important human urate transporter, and a common mutation, a Gln to Lys substitution at position 141 (Q141K), was shown to cause hyperuricemia and gout. 23493553 2013
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
0.500 GeneticVariation disease BEFREE The strongest association was detected at SLC22A12 rs505802 for uric acid (p=2.4×10(-50)) and ABCG2 rs2231142 for hyperuricemia (p3.6×10(-10)). 23238572 2013
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
0.500 GeneticVariation disease BEFREE Therefore, ABCG2 dysfunction originating from common genetic variants has a much stronger impact on the progression of hyperuricemia than other familiar risks. 24909660 2014
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
0.500 GeneticVariation disease BEFREE The ABCG2 141K variant and the FCU contribute strongly but independently to hyperuricaemia. 26835700 2016
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
0.500 GeneticVariation disease BEFREE Three SNPs, URAT1 rs11231825, GLUT9 rs16890979 and ABCG2 rs2231142, previously associated in our population with hyperuricemia and gout, were analyzed in 27 patients with HPRT deficiency treated with allopurinol for at least 5 years. 29879316 2018
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
0.500 GeneticVariation disease LHGDN Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is an inborn error of purine metabolism responsible for Lesch-Nyhan Disease (LND) and its partial phenotypes, HPRT-related hyperuricemia with neurologic dysfunction (HRND) and hyperuricemia alone. 17454734 2007
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
0.500 GeneticVariation disease BEFREE Two missense mutations (T124P and D185G) were detected in patients with HRH (HPRT-related hyperuricemia). 17027311 2007
Entrez Id: 56606
Gene Symbol: SLC2A9
SLC2A9
0.500 GeneticVariation disease BEFREE Type 2 renal hyperuricemia (RHUC2) is caused by a mutation in the SLC2A9 gene, which encodes a high‑capacity glucose and urate transporter, glucose transporter (GLUT)9. 31638209 2019
Entrez Id: 56606
Gene Symbol: SLC2A9
SLC2A9
0.500 GeneticVariation disease BEFREE For rare variants, six single nucleotide variations (SNVs) p.T21I and p.G13D in SLC2A9, p.W50fs, p.Q382L, p.V547L and p.E458K in SLC22A12, occurred in totally six hypouricemia subjects and were absent in HUA and normal controls. 31131560 2019
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
0.500 GeneticVariation disease BEFREE Not only does the 141K polymorphism in ABCG2 lead to hyperuricemia through renal overload and renal underexcretion, but emerging evidence indicates that it also increases the risk of acute gout in the presence of hyperuricemia, early onset of gout, tophi formation, and a poor response to allopurinol. 28461764 2017
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
0.500 GeneticVariation disease BEFREE Predictors of ULT misuse included the percentage of patients having gout (1-10%: OR=5.40, p=0.047) or receiving ULT (greater than 10-20%: OR=20.02, p=0.001)among patients seen in clinic, attendance of rheumatology conferences (OR=2.55, p=0.017), and having a close relative with hyperuricemia or gout (OR=2.45, p=0.026). 30520504 2018
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
0.500 GeneticVariation disease BEFREE It was first identified that rs2054576 in ABCG2 is associated with hyperuricemia. 28776340 2017