Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1
0.600 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1
0.600 GeneticVariation disease CLINVAR
URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1
0.600 Biomarker disease GENOMICS_ENGLAND
URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1
0.600 Biomarker disease CTD_human
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia
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
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia
0.500 Biomarker disease BEFREE This essentially includes our recent findings, as we serendipitously identified febuxostat, a well-used agent for hyperuricemia as a strong ABCG2 inhibitor, that possesses some promising potentials. 30890942 2019
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia
0.500 Biomarker disease BEFREE Accumulating evidence demonstrates that congenital dysfunction of ABCG2 is an important genetic risk factor in gout and hyperuricemia; recent studies suggest the clinical significance of both common and rare variants of ABCG2. 31003562 2019
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia
0.500 Biomarker disease BEFREE We concluded that ABCG2 gene contributed to hyperuricemia but also gout, and that it was involved in the inflammation dysregulation via augmented IL-8 release in EC. 29453348 2018
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia
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
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia
0.500 GeneticVariation disease GWASCAT Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population. 29124443 2018
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia
0.500 AlteredExpression disease BEFREE Furthermore, the possibility of treating gout and hyperuricemia by upregulating intestinal ABCG2 expression is examined. 29264928 2018
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia
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
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia
0.500 AlteredExpression disease BEFREE Plasma membrane expression of breast cancer resistance protein (BCRP), a uric acid efflux transporter, was decreased under hyperuricemia, though the total cellular expression of BCRP remained constant. 29317200 2018
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia
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
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia
0.500 GeneticVariation disease BEFREE Adenosine 5'-triphosphate-binding cassette subfamily G member 2 (ABCG2) is a urate transporter, and common dysfunctional variants of ABCG2, non-functional Q126X (rs72552713) and semi-functional Q141K (rs2231142), are risk factors for hyperuricemia and gout. 29342419 2018
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia
0.500 GeneticVariation disease GWASCAT ABCG2 contributes to the development of gout and hyperuricemia in a genome-wide association study. 29453348 2018
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia
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
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia
0.500 Biomarker disease BEFREE Key findings include the reporting of 28 urate-associated loci, the discovery that ABCG2 plays a central role on extra-renal uric acid excretion, the identification of genes associated with development of gout in the context of hyperuricaemia, recognition that ABCG2 variants influence allopurinol response, and the impact of HLA-B*5801 testing in reducing the prevalence of allopurinol hypersensitivity in high-risk populations. 28566086 2017
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia
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
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia
0.500 GeneticVariation disease BEFREE It was first identified that rs2054576 in ABCG2 is associated with hyperuricemia. 28776340 2017
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia
0.500 Biomarker disease BEFREE <i>Cichorium intybus</i> L. promotes intestinal uric acid excretion by modulating ABCG2 in experimental hyperuricemia. 28630638 2017
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia
0.500 GeneticVariation disease BEFREE Previous genome-wide association studies have found that the ABCG2 single nucleotide polymorphism (SNP) rs2231142 is an important genetic factor for increased uric acid (UA) levels, and the degree of association between rs2231142 and hyperuricemia is affected by both sex and ethnicity. 26792383 2017
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia
0.500 Biomarker disease BEFREE ABCG2 and a novel gene, SLC17A4, contributed to the development of gout from hyperuricemia (OR = 1.56, P<sub>FDR</sub> = 3.68E-09; OR = 1.27, P<sub>FDR</sub> = 0.013, respectively). 28252667 2017
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia
0.500 GeneticVariation disease BEFREE The ABCG2 141K variant and the FCU contribute strongly but independently to hyperuricaemia. 26835700 2016
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia
0.500 Biomarker disease BEFREE Two important pathways determining hyperuricemia have been confirmed (renal and gut excretion of uric acid with glycolysis now firmly implicated).Major urate loci are SLC2A9 and ABCG2. 25889045 2015