Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi
0.140 GeneticVariation disease BEFREE In addition, subjects carrying the minor AA genotype at rs12654812 (regulator of G protein signaling 14 (RGS14)) have higher susceptibility to nephrolithiasis (OR = 1.91, p = 0.0017). 31754202 2019
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis
0.140 GeneticVariation disease BEFREE In addition, subjects carrying the minor AA genotype at rs12654812 (regulator of G protein signaling 14 (RGS14)) have higher susceptibility to nephrolithiasis (OR = 1.91, p = 0.0017). 31754202 2019
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi
0.140 GeneticVariation disease BEFREE Our results suggest that the RGS14 polymorphism is involved in the etiology of nephrolithiasis and thus may be a genetic marker for nephrolithiasis. 29577426 2018
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis
0.140 GeneticVariation disease BEFREE Our results suggest that the RGS14 polymorphism is involved in the etiology of nephrolithiasis and thus may be a genetic marker for nephrolithiasis. 29577426 2018
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi
0.140 GeneticVariation disease GWASCAT Common and rare variants associated with kidney stones and biochemical traits. 26272126 2015
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi
0.140 GeneticVariation disease BEFREE We selected seven single-nucleotide polymorphisms (SNPs): rs12654812 and rs11746443 from 5q35.3 (RGS14-SLC34A1-PFN3-F12); rs12669187 and rs1000597 from 7p14.3 (INMT-FAM188B-AQP1); and rs7981733, rs1170155, and rs4142110 from 13q14.1 (DGKH (diacylglycerol kinase)), which were previously reported to be significantly associated with nephrolithiasis. rs12654812, rs12669187 and rs7981733 were significantly associated with nephrolithiasis after Bonferroni's correction (P=3.12 × 10(-3), odds ratio (OR)=1.43; P=6.40 × 10(-3), OR=1.57; and P=5.00 × 10(-3), OR=1.41, respectively). 23719187 2013
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis
0.140 GeneticVariation disease BEFREE We selected seven single-nucleotide polymorphisms (SNPs): rs12654812 and rs11746443 from 5q35.3 (RGS14-SLC34A1-PFN3-F12); rs12669187 and rs1000597 from 7p14.3 (INMT-FAM188B-AQP1); and rs7981733, rs1170155, and rs4142110 from 13q14.1 (DGKH (diacylglycerol kinase)), which were previously reported to be significantly associated with nephrolithiasis. rs12654812, rs12669187 and rs7981733 were significantly associated with nephrolithiasis after Bonferroni's correction (P=3.12 × 10(-3), odds ratio (OR)=1.43; P=6.40 × 10(-3), OR=1.57; and P=5.00 × 10(-3), OR=1.41, respectively). 23719187 2013
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi
0.140 GeneticVariation disease BEFREE Here we found three novel loci for nephrolithiasis: RGS14-SLC34A1-PFN3-F12 on 5q35.3 (rs11746443; P = 8.51×10⁻¹², odds ratio (OR) = 1.19), INMT-FAM188B-AQP1 on 7p14.3 (rs1000597; P = 2.16×10⁻¹⁴, OR = 1.22), and DGKH on 13q14.1 (rs4142110; P = 4.62×10⁻⁹, OR = 1.14). 22396660 2012
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis
0.140 GeneticVariation disease GWASCAT A genome-wide association study of nephrolithiasis in the Japanese population identifies novel susceptible Loci at 5q35.3, 7p14.3, and 13q14.1. 22396660 2012
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis
0.140 GeneticVariation disease BEFREE Here we found three novel loci for nephrolithiasis: RGS14-SLC34A1-PFN3-F12 on 5q35.3 (rs11746443; P = 8.51×10⁻¹², odds ratio (OR) = 1.19), INMT-FAM188B-AQP1 on 7p14.3 (rs1000597; P = 2.16×10⁻¹⁴, OR = 1.22), and DGKH on 13q14.1 (rs4142110; P = 4.62×10⁻⁹, OR = 1.14). 22396660 2012
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis
0.140 GeneticVariation disease GWASDB A genome-wide association study of nephrolithiasis in the Japanese population identifies novel susceptible Loci at 5q35.3, 7p14.3, and 13q14.1. 22396660 2012
CUI: C0005845
Disease: Blood urea nitrogen measurement
Blood urea nitrogen measurement
0.100 GeneticVariation phenotype GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
0.100 GeneticVariation disease GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0451641
Disease: Urolithiasis
Urolithiasis
0.100 GeneticVariation disease GWASCAT Novel Risk Loci Identified in a Genome-Wide Association Study of Urolithiasis in a Japanese Population. 30975718 2019
Fibroblast Growth Factor 23 Measurement
0.100 GeneticVariation phenotype GWASCAT Genetic Variants Associated with Circulating Fibroblast Growth Factor 23. 30217807 2018
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.100 GeneticVariation disease GWASCAT Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. 28067908 2017
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.100 GeneticVariation group GWASCAT Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. 28067908 2017
CUI: C0202159
Disease: Parathyroid hormone measurement
Parathyroid hormone measurement
0.100 GeneticVariation phenotype GWASCAT Genetic Variants Associated with Circulating Parathyroid Hormone. 27927781 2017
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure
0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement
0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.100 GeneticVariation disease GWASCAT Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. 26192919 2015
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.100 GeneticVariation disease GWASCAT Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. 26192919 2015
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.100 GeneticVariation group GWASCAT Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. 26192919 2015
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.100 GeneticVariation disease GWASCAT Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis. 24076602 2013