Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.300 Biomarker group CTD_human Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 28191889 2017
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.300 Biomarker disease CTD_human Progesterone resistance in PCOS endometrium: a microarray analysis in clomiphene citrate-treated and artificial menstrual cycles. 21411543 2011
CUI: C1136382
Disease: Sclerocystic Ovaries
Sclerocystic Ovaries 		0.300 Biomarker disease CTD_human Progesterone resistance in PCOS endometrium: a microarray analysis in clomiphene citrate-treated and artificial menstrual cycles. 21411543 2011
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 GWASCAT Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis. 31649266 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 GWASCAT Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits. 30194396 2018
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		0.130 GeneticVariation group BEFREE Replication of GWAS loci revealed the moderate effect of TNRC6B locus on susceptibility of Saudi women to develop uterine leiomyomas. 27987337 2017
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 GWASCAT 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 GWASDB A genome-wide association study identifies three loci associated with susceptibility to uterine fibroids. 21460842 2011
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.110 GeneticVariation disease GWASCAT Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci. 29892016 2018
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.110 Biomarker disease BEFREE Using a series of experiments in human prostate cancer cell lines, we validate the highest ranking prediction (TNRC6B) as a ceRNA of PTEN. 28798471 2017
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.110 Biomarker disease BEFREE Using a series of experiments in human prostate cancer cell lines, we validate the highest ranking prediction (TNRC6B) as a ceRNA of PTEN. 28798471 2017
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.110 GeneticVariation disease GWASDB Sequence variants at 22q13 are associated with prostate cancer risk. 19117981 2009
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.110 GeneticVariation disease GWASCAT Sequence variants at 22q13 are associated with prostate cancer risk. 19117981 2009
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: 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: C0428883
Disease: Diastolic blood pressure
Diastolic blood 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
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1305855
Disease: Body mass index
Body mass index 		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: C2242776
Disease: Plexiform leiomyoma
Plexiform leiomyoma 		0.100 GeneticVariation disease GWASCAT A Trans-Ethnic Genome-Wide Association Study of Uterine Fibroids. 31249589 2019
CUI: C2242776
Disease: Plexiform leiomyoma
Plexiform leiomyoma 		0.100 GeneticVariation disease GWASCAT Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis. 31649266 2019