Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		0.010 Biomarker disease BEFREE However, the majority of TNRC6b and all TNRC6c mutants die within 24h after birth, the latter with respiratory failure. 28811219 2017
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.010 GeneticVariation disease BEFREE We found nine statistically significant associations with CLL risk after FDR correction, seven in miRNA processing genes (rs3805500 and rs6877842 in DROSHA, rs1057035 in DICER1, rs17676986 in SND1, rs9611280 in TNRC6B, rs784567 in TRBP and rs11866002 in CNOT1) and two in pre-miRNAs (rs11614913 in miR196a2 and rs2114358 in miR1206). 25793711 2015
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.010 GeneticVariation disease BEFREE We did not identify a significant association of TNRC6B mutations with ASD. 25228304 2014
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
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.020 GeneticVariation disease BEFREE Six miR-SNPs in miRNA processing machinery genes, including Dicer (rs3742330), RAN (rs14035), XPO5 (rs11077), TNRC6B (rs9623117), GEMIN3 (rs197412), and GEMIN4 (rs2740348), were evaluated for their association with esophageal squamous cell carcinoma (ESCC). 29226993 2018
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.020 GeneticVariation disease BEFREE Our results suggest that the trinucleotide repeat containing 6B mutation may be a candidate predisposing gene in esophageal squamous cell carcinoma. 28459198 2017
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
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci. 30108127 2018
CUI: C2242776
Disease: Plexiform leiomyoma
Plexiform leiomyoma 		0.100 GeneticVariation disease GWASCAT Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits. 30194396 2018
CUI: C4317009
Disease: Diverticular Diseases
Diverticular Diseases 		0.100 GeneticVariation group GWASCAT Genome-wide association analyses identify 39 new susceptibility loci for diverticular disease. 30177863 2018
CUI: C0008810
Disease: Circadian Rhythms
Circadian Rhythms 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association analysis of insomnia complaints identifies risk genes and genetic overlap with psychiatric and metabolic traits. 28604731 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.100 GeneticVariation disease GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2017
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association study identifies 112 new loci for body mass index in the Japanese population. 28892062 2017
CUI: C0008810
Disease: Circadian Rhythms
Circadian Rhythms 		0.100 GeneticVariation phenotype GWASCAT Genome-Wide Association Analyses in 128,266 Individuals Identifies New Morningness and Sleep Duration Loci. 27494321 2016
CUI: C0008810
Disease: Circadian Rhythms
Circadian Rhythms 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association analysis identifies novel loci for chronotype in 100,420 individuals from the UK Biobank. 26955885 2016
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016