Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.100 GeneticVariation group GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0236664
Disease: Alcohol-Related Disorders
Alcohol-Related Disorders 		0.100 GeneticVariation group GWASCAT Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families. 24962325 2014
CUI: C0236970
Disease: Alcohol-Induced Disorders
Alcohol-Induced Disorders 		0.100 GeneticVariation group GWASCAT Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families. 24962325 2014
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.010 Biomarker group BEFREE Recently, genomic analyses have identified ARL15 as a new candidate gene related to diabetes. 28322786 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 Biomarker group BEFREE Cross species comparative analysis with aCGH data of human cancer cell lines revealed known and candidate oncogenes (Mmp13, Slamf6, and Rreb1) and tumor suppressors (Wwox and Arfrp2). 18485879 2008
CUI: C0001925
Disease: Albuminuria
Albuminuria 		0.100 GeneticVariation phenotype GWASCAT Genetic Association of Albuminuria with Cardiometabolic Disease and Blood Pressure. 30220432 2018
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 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 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 Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis. 31015462 2019
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.100 GeneticVariation phenotype GWASCAT 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function. 28452372 2017
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 Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. 26831199 2016
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets. 28166213 2017
CUI: C0042834
Disease: Vital capacity
Vital capacity 		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: C0042834
Disease: Vital capacity
Vital capacity 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.100 GeneticVariation phenotype GWASCAT 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function. 28452372 2017
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.100 GeneticVariation phenotype GWASCAT Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. 26831199 2016
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.100 GeneticVariation phenotype GWASCAT Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity. 30670697 2019
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.100 GeneticVariation phenotype GWASCAT Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531 2018
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.100 GeneticVariation phenotype GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.100 GeneticVariation phenotype GWASCAT Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors. 30575882 2018
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.100 GeneticVariation phenotype GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016