Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		0.130 GeneticVariation group GWASCAT A Trans-Ethnic Genome-Wide Association Study of Uterine Fibroids. 31249589 2019
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		0.130 GeneticVariation group BEFREE Two SNPs, rs2280543 from BET1L (χ<sup>2</sup> = 18.3, OR = 0.64, P = 1.87 × 10<sup>-5</sup>) and rs12484776 from TNRC6B (χ<sup>2</sup> = 19.7, OR = 1.40, P = 8.91 × 10<sup>-6</sup>), were identified as significantly associated with the disease status of UL. 29743541 2018
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		0.130 GeneticVariation group BEFREE Meta-analysis showed a strong association at blocked early in transport 1 homolog (BET1L) rs2280543 for intramural UFs (meta-OR = 0.51, standard error (SE) = 0.14, Q = 0.590, I = 0, p = 2.48 × 10(-6)), which is stronger than the overall association with UF risk. 23892540 2013
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		0.130 Biomarker group BEFREE BET1L and TNRC6B associate with uterine fibroid risk among European Americans. 23604678 2013
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		0.130 GeneticVariation group GWASDB A genome-wide association study identifies three loci associated with susceptibility to uterine fibroids. 21460842 2011
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		0.130 GeneticVariation group GWASCAT A genome-wide association study identifies three loci associated with susceptibility to uterine fibroids. 21460842 2011
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.100 GeneticVariation phenotype GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C2242776
Disease: Plexiform leiomyoma
Plexiform leiomyoma 		0.100 GeneticVariation disease GWASCAT A Trans-Ethnic Genome-Wide Association Study of Uterine Fibroids. 31249589 2019
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count 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: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.100 GeneticVariation phenotype GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
CUI: C0574785
Disease: Lower Urinary Tract Symptoms
Lower Urinary Tract Symptoms 		0.100 GeneticVariation phenotype GWASCAT Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA. 30410027 2018
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		0.100 GeneticVariation disease GWASCAT Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA. 30410027 2018
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.100 GeneticVariation phenotype GWASDB A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects. 24026423 2014
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.100 GeneticVariation phenotype GWASCAT A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects. 24026423 2014
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.100 GeneticVariation phenotype GWASDB A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans. 22423221 2012
CUI: C2242776
Disease: Plexiform leiomyoma
Plexiform leiomyoma 		0.100 GeneticVariation disease GWASCAT A genome-wide association study identifies three loci associated with susceptibility to uterine fibroids. 21460842 2011
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.100 GeneticVariation phenotype GWASCAT A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. 19820697 2009
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.100 GeneticVariation phenotype GWASDB A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. 19820697 2009
CUI: C0023267
Disease: Fibroid Tumor
Fibroid Tumor 		0.010 GeneticVariation disease BEFREE Variants in BET1L and TNRC6B associate with increasing fibroid volume and fibroid type among European Americans. 23892540 2013