eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| hyperuricemia | ||||
| Disease ID | 750 |
|---|---|
| Disease | hyperuricemia |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:22) C2062908 | acute gout C1963154 | renal failure C1963138 | hypertension C1565662 | acute renal insufficiency C1565489 | renal insufficiency C0948265 | metabolic syndrome C0748052 | erythrodermic psoriasis C0595916 | renal toxicity C0554309 | azotemia C0451641 | urolithiasis C0403719 | urate nephropathy C0403443 | familial nephropathy C0341697 | renal impairment C0238446 | tuberculous tenosynovitis C0028961 | oliguria C0025517 | metabolic disorders C0022660 | acute renal failure C0022658 | renal disease C0022658 | nephropathy C0022658 | kidney diseases C0020473 | hyperlipidemia C0011849 | diabetes mellitus |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:11) C0020538 | hypertension | 34 C0948265 | metabolic syndrome | 19 C0022658 | renal disease | 6 C0011849 | diabetes mellitus | 4 C0341697 | renal impairment | 3 C0022658 | nephropathy | 3 C0025517 | metabolic disorders | 3 C0035078 | renal failure | 3 C1565489 | renal insufficiency | 2 C0451641 | urolithiasis | 1 C0403719 | urate nephropathy | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:27) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs1137070 | 19915868 | 4128 | MAOA | umls:C0740394 | BeFree | We also found that MAOA enzyme activity by rs1137070 allele was associated with hyperuricemia and gout (P for trend = 1.53 x 10(-6) vs. wild-type allele). | 0.000271442 | 2010 | MAOA | X | 43744144 | T | C |
| rs12218 | 22768267 | 6288 | SAA1 | umls:C0740394 | BeFree | The rs12218 SNP in the SAA1 gene was associated with SUA levels in Chinese subjects, indicating that carriers of the T allele of rs12218 have a high risk of hyperuricemia. | 0.000271442 | 2012 | SAA1 | 11 | 18269774 | T | C |
| rs16874954 | 14709372 | 7941 | PLA2G7 | umls:C0740394 | BeFree | Multivariate logistic regression analysis with adjustment for age, body mass index, and the prevalence of smoking, hypertension, diabetes mellitus, and hyperuricemia revealed that three polymorphisms [994G --> T (Val279Phe) in the platelet-activating factor acetylhydrolase gene, 242C --> T (His72Tyr) in the NADH/NADPH oxidase p22 phox gene, and 1100C --> T in the apolipoprotein C-III gene] were significantly associated with CAD in men with hypercholesterolemia. | 0.000271442 | 2004 | NA | NA | NA | NA | NA |
| rs16874954 | 14709372 | 1666 | DECR1 | umls:C0740394 | BeFree | Multivariate logistic regression analysis with adjustment for age, body mass index, and the prevalence of smoking, hypertension, diabetes mellitus, and hyperuricemia revealed that three polymorphisms [994G --> T (Val279Phe) in the platelet-activating factor acetylhydrolase gene, 242C --> T (His72Tyr) in the NADH/NADPH oxidase p22 phox gene, and 1100C --> T in the apolipoprotein C-III gene] were significantly associated with CAD in men with hypercholesterolemia. | 0.000814326 | 2004 | NA | NA | NA | NA | NA |
| rs16874954 | 14709372 | 345 | APOC3 | umls:C0740394 | BeFree | Multivariate logistic regression analysis with adjustment for age, body mass index, and the prevalence of smoking, hypertension, diabetes mellitus, and hyperuricemia revealed that three polymorphisms [994G --> T (Val279Phe) in the platelet-activating factor acetylhydrolase gene, 242C --> T (His72Tyr) in the NADH/NADPH oxidase p22 phox gene, and 1100C --> T in the apolipoprotein C-III gene] were significantly associated with CAD in men with hypercholesterolemia. | 0.002909916 | 2004 | NA | NA | NA | NA | NA |
| rs16874954 | 14709372 | 1535 | CYBA | umls:C0740394 | BeFree | Multivariate logistic regression analysis with adjustment for age, body mass index, and the prevalence of smoking, hypertension, diabetes mellitus, and hyperuricemia revealed that three polymorphisms [994G --> T (Val279Phe) in the platelet-activating factor acetylhydrolase gene, 242C --> T (His72Tyr) in the NADH/NADPH oxidase p22 phox gene, and 1100C --> T in the apolipoprotein C-III gene] were significantly associated with CAD in men with hypercholesterolemia. | 0.000814326 | 2004 | NA | NA | NA | NA | NA |
| rs189660050 | 21594610 | 124626 | ZPBP2 | umls:C0740394 | BeFree | ZPBP2 p.T69I was at the non-conserved region and was predicted to be benign by in silico analysis, whereas GPATCH8 p.A979P was at a highly conserved region and was predicted to be deleterious, which made p.A979P a conceivable candidate for juvenile-onset hyperuricemia. | 0.000271442 | 2011 | ZPBP2 | 17 | 39870781 | C | T |
| rs2231142 | 23238572 | 116085 | SLC22A12 | umls:C0740394 | 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)). | 0.011639663 | 2013 | ABCG2 | 4 | 88131171 | G | T |
| rs2231142 | 23493553 | 9429 | ABCG2 | umls:C0740394 | 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. | 0.013811198 | 2013 | ABCG2 | 4 | 88131171 | G | T |
| rs2231142 | 20421215 | 9429 | ABCG2 | umls:C0740394 | GAD | [The association of the causal ABCG2 rs2231142 variant with uric acid levels and gout was confirmed in a sample of Japanese ancestry. Our study emphasizes the importance of this common causal variant in a population with a high risk allele frequency, espec] | 0.013811198 | 2010 | ABCG2 | 4 | 88131171 | G | T |
| rs2231142 | 23238572 | 9429 | ABCG2 | umls:C0740394 | 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)). | 0.013811198 | 2013 | ABCG2 | 4 | 88131171 | G | T |
| rs386594564 | 14709372 | 7941 | PLA2G7 | umls:C0740394 | BeFree | Multivariate logistic regression analysis with adjustment for age, body mass index, and the prevalence of smoking, hypertension, diabetes mellitus, and hyperuricemia revealed that three polymorphisms [994G --> T (Val279Phe) in the platelet-activating factor acetylhydrolase gene, 242C --> T (His72Tyr) in the NADH/NADPH oxidase p22 phox gene, and 1100C --> T in the apolipoprotein C-III gene] were significantly associated with CAD in men with hypercholesterolemia. | 0.000271442 | 2004 | NA | NA | NA | NA | NA |
| rs386594564 | 14709372 | 1535 | CYBA | umls:C0740394 | BeFree | Multivariate logistic regression analysis with adjustment for age, body mass index, and the prevalence of smoking, hypertension, diabetes mellitus, and hyperuricemia revealed that three polymorphisms [994G --> T (Val279Phe) in the platelet-activating factor acetylhydrolase gene, 242C --> T (His72Tyr) in the NADH/NADPH oxidase p22 phox gene, and 1100C --> T in the apolipoprotein C-III gene] were significantly associated with CAD in men with hypercholesterolemia. | 0.000814326 | 2004 | NA | NA | NA | NA | NA |
| rs386594564 | 14709372 | 1666 | DECR1 | umls:C0740394 | BeFree | Multivariate logistic regression analysis with adjustment for age, body mass index, and the prevalence of smoking, hypertension, diabetes mellitus, and hyperuricemia revealed that three polymorphisms [994G --> T (Val279Phe) in the platelet-activating factor acetylhydrolase gene, 242C --> T (His72Tyr) in the NADH/NADPH oxidase p22 phox gene, and 1100C --> T in the apolipoprotein C-III gene] were significantly associated with CAD in men with hypercholesterolemia. | 0.000814326 | 2004 | NA | NA | NA | NA | NA |
| rs386594564 | 14709372 | 345 | APOC3 | umls:C0740394 | BeFree | Multivariate logistic regression analysis with adjustment for age, body mass index, and the prevalence of smoking, hypertension, diabetes mellitus, and hyperuricemia revealed that three polymorphisms [994G --> T (Val279Phe) in the platelet-activating factor acetylhydrolase gene, 242C --> T (His72Tyr) in the NADH/NADPH oxidase p22 phox gene, and 1100C --> T in the apolipoprotein C-III gene] were significantly associated with CAD in men with hypercholesterolemia. | 0.002909916 | 2004 | NA | NA | NA | NA | NA |
| rs4673 | 14709372 | 1666 | DECR1 | umls:C0740394 | BeFree | Multivariate logistic regression analysis with adjustment for age, body mass index, and the prevalence of smoking, hypertension, diabetes mellitus, and hyperuricemia revealed that three polymorphisms [994G --> T (Val279Phe) in the platelet-activating factor acetylhydrolase gene, 242C --> T (His72Tyr) in the NADH/NADPH oxidase p22 phox gene, and 1100C --> T in the apolipoprotein C-III gene] were significantly associated with CAD in men with hypercholesterolemia. | 0.000814326 | 2004 | CYBA | 16 | 88646828 | A | G |
| rs4673 | 14709372 | 7941 | PLA2G7 | umls:C0740394 | BeFree | Multivariate logistic regression analysis with adjustment for age, body mass index, and the prevalence of smoking, hypertension, diabetes mellitus, and hyperuricemia revealed that three polymorphisms [994G --> T (Val279Phe) in the platelet-activating factor acetylhydrolase gene, 242C --> T (His72Tyr) in the NADH/NADPH oxidase p22 phox gene, and 1100C --> T in the apolipoprotein C-III gene] were significantly associated with CAD in men with hypercholesterolemia. | 0.000271442 | 2004 | CYBA | 16 | 88646828 | A | G |
| rs4673 | 14709372 | 1535 | CYBA | umls:C0740394 | BeFree | Multivariate logistic regression analysis with adjustment for age, body mass index, and the prevalence of smoking, hypertension, diabetes mellitus, and hyperuricemia revealed that three polymorphisms [994G --> T (Val279Phe) in the platelet-activating factor acetylhydrolase gene, 242C --> T (His72Tyr) in the NADH/NADPH oxidase p22 phox gene, and 1100C --> T in the apolipoprotein C-III gene] were significantly associated with CAD in men with hypercholesterolemia. | 0.000814326 | 2004 | CYBA | 16 | 88646828 | A | G |
| rs4673 | 14709372 | 345 | APOC3 | umls:C0740394 | BeFree | Multivariate logistic regression analysis with adjustment for age, body mass index, and the prevalence of smoking, hypertension, diabetes mellitus, and hyperuricemia revealed that three polymorphisms [994G --> T (Val279Phe) in the platelet-activating factor acetylhydrolase gene, 242C --> T (His72Tyr) in the NADH/NADPH oxidase p22 phox gene, and 1100C --> T in the apolipoprotein C-III gene] were significantly associated with CAD in men with hypercholesterolemia. | 0.002909916 | 2004 | CYBA | 16 | 88646828 | A | G |
| rs4994 | 23729572 | 155 | ADRB3 | umls:C0740394 | BeFree | Trp64Arg (rs4994) polymorphism of β3-adrenergic receptor gene is associated with hyperuricemia in a Chinese male population. | 0.003452799 | 2013 | ADRB3 | 8 | 37966280 | A | G |
| rs4994 | 20008926 | 155 | ADRB3 | umls:C0740394 | BeFree | Trp64Arg polymorphism of the ADRB3 gene predicts hyperuricemia risk in a population from southern Spain. | 0.003452799 | 2010 | ADRB3 | 8 | 37966280 | A | G |
| rs4994 | 17225053 | 155 | ADRB3 | umls:C0740394 | BeFree | The association between hyperuricemia and the Trp64Arg polymorphism of the beta-3 adrenergic receptor. | 0.003452799 | 2007 | ADRB3 | 8 | 37966280 | A | G |
| rs4994 | 21285172 | 155 | ADRB3 | umls:C0740394 | BeFree | The common polymorphism rs4994 [c. T387C, p. Trp64Arg (W64R)] of the lipolysis regulator beta-3-adrenergic receptor (ADRB3) was identified as a marker in the pathogenesis of hyperuricemia. | 0.003452799 | 2011 | ADRB3 | 8 | 37966280 | A | G |
| rs505802 | 23238572 | 9429 | ABCG2 | umls:C0740394 | 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)). | 0.013811198 | 2013 | SLC22A12 | 11 | 64589600 | T | C |
| rs505802 | 23238572 | 116085 | SLC22A12 | umls:C0740394 | 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)). | 0.011639663 | 2013 | SLC22A12 | 11 | 64589600 | T | C |
| rs5443 | 16707857 | 2784 | GNB3 | umls:C0740394 | BeFree | The C825T variant of the G-protein beta3 subunit (GNB3) gene has attracted renewed attention as a candidate gene for obesity, hypertension and hyperuricemia. | 0.002638474 | 2006 | GNB3;CDCA3 | 12 | 6845711 | C | T |
| rs6855911 | 20972595 | 56606 | SLC2A9 | umls:C0740394 | BeFree | The polymorphism rs6855911 in SLC2A9 may be a genetic marker to assess risk of hyperuricemia among Chinese male Han population. | 0.128729747 | 2011 | SLC2A9 | 4 | 9934286 | A | G |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
| Disease ID | 750 |
|---|---|
| Disease | hyperuricemia |
| Case | (Waiting for update.) |