Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
0.120 GeneticVariation group BEFREE In the discovery phase, 28 variants within 4 loci (chromosome [chr] 2 with 8 variants including rs3770636 in the LDL receptor related protein 2 gene locus, on chr 5 with 2 variants including rs270184, chr 17 with 15 variants including rs3785837 in the BCAS3 gene locus, and chr 18 with 3 variants including rs74183647 in the nuclear factor of -activated T-cells 1 gene locus) reached the suggestive level of p < 1 × 10-6 in association with eGFR and SCr, and 2 variants on chr 4 (including rs78351985 in the microsomal triglyceride transfer protein gene locus) fulfilled the suggestive level in association with the risk of CKD. 29779033 2018
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
0.120 GeneticVariation group GWASDB Genome-wide association and functional follow-up reveals new loci for kidney function. 22479191 2012
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
0.120 GeneticVariation group BEFREE Follow-up of the 23 new genome-wide-significant loci (P < 5 x 10(-8)) in 22,982 replication samples identified 13 new loci affecting renal function and CKD (in or near LASS2, GCKR, ALMS1, TFDP2, DAB2, SLC34A1, VEGFA, PRKAG2, PIP5K1B, ATXN2, DACH1, UBE2Q2 and SLC7A9) and 7 loci suspected to affect creatinine production and secretion (CPS1, SLC22A2, TMEM60, WDR37, SLC6A13, WDR72 and BCAS3). 20383146 2010
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
0.120 GeneticVariation group GWASDB New loci associated with kidney function and chronic kidney disease. 20383146 2010
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: C0005890
Disease: Body Height
Body Height
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.100 GeneticVariation group GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 GeneticVariation disease GWASCAT Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program. 31451708 2019
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.100 GeneticVariation group GWASCAT Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program. 31451708 2019
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function
0.100 GeneticVariation phenotype GWASCAT New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries. 30804560 2019
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
0.100 GeneticVariation phenotype GWASCAT Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program. 31451708 2019
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
0.100 GeneticVariation phenotype GWASCAT Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies. 30604766 2019
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
0.100 GeneticVariation phenotype GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
0.100 GeneticVariation phenotype GWASCAT Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis. 31015462 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: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure)
0.100 GeneticVariation phenotype GWASCAT Genome-wide meta-analysis identifies multiple novel loci associated with serum uric acid levels in Japanese individuals. 30993211 2019
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure)
0.100 GeneticVariation phenotype GWASCAT Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels. 31578528 2019
Red cell distribution width determination
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
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.100 GeneticVariation phenotype GWASCAT Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. 30578418 2019
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
RDW - Red blood cell distribution width result
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0005845
Disease: Blood urea nitrogen measurement
Blood urea nitrogen measurement
0.100 GeneticVariation phenotype GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
0.100 GeneticVariation phenotype GWASCAT Genome-Wide Association Study of Renal Function Traits: Results from the Japan Multi-Institutional Collaborative Cohort Study. 29779033 2018