PRDM6, PR/SET domain 6, 93166

N. diseases: 48; N. variants: 13
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310753
Disease: PATENT DUCTUS ARTERIOSUS 3
PATENT DUCTUS ARTERIOSUS 3 		0.600 GeneticVariation disease UNIPROT Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus. 27181681 2016
CUI: C4310753
Disease: PATENT DUCTUS ARTERIOSUS 3
PATENT DUCTUS ARTERIOSUS 3 		0.600 CausalMutation disease CLINVAR
CUI: C4310753
Disease: PATENT DUCTUS ARTERIOSUS 3
PATENT DUCTUS ARTERIOSUS 3 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.410 GeneticVariation disease BEFREE Our findings identify PRDM6 mutations as underlying genetic causes of nonsyndromic isolated PDA in humans and implicates the wild-type protein in epigenetic regulation of ductus remodeling. 27181681 2016
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.410 Biomarker disease CTD_human
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.410 Biomarker disease HPO
CUI: C2936170
Disease: Patent Ductus Arteriosus Familial
Patent Ductus Arteriosus Familial 		0.300 Biomarker disease CTD_human
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.100 GeneticVariation group GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 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
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.100 GeneticVariation disease GWASCAT Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. 29212778 2018
CUI: C0002170
Disease: Alopecia
Alopecia 		0.100 GeneticVariation disease GWASCAT Genetic prediction of male pattern baldness. 28196072 2017
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. 27841878 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: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. 27841878 2017
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.100 GeneticVariation phenotype GWASCAT Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension. 27618447 2016
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.100 GeneticVariation phenotype GWASCAT Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation. 26390057 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.030 Biomarker group BEFREE We present PRISM, a tool for inferring the composition of epigenetically distinct subclones of a tumor solely from methylation patterns obtained by reduced representation bisulfite sequencing. 31510697 2019
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		0.030 Biomarker disease BEFREE The results of this study indicate that PRISM ChLIA s/co ratios >2·00 with IB indeterminate results predict exposure to HCV, particularly in the presence of putative risk factors for HCV infection. 28850195 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.030 Biomarker group BEFREE In a screen of 102 cell lines across 8,400 compounds, PRISM led to the identification of BRD-7880 as a potent and highly specific inhibitor of aurora kinases B and C. Cell line pools also efficiently formed tumors as xenografts, and PRISM recapitulated the expected pattern of erlotinib sensitivity in vivo. 26928769 2016
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		0.030 Biomarker disease BEFREE For these samples, detection at the HBsAg assay cutoff (sample-to-cutoff ratio, 1.0) corresponded to 206 copies/mL HBV DNA for the HBsAg Prototype 1 assay and 329 copies/mL for the PRISM HBsAg assay. 22321072 2012
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		0.030 Biomarker disease BEFREE The mean IWPs were Tigris HIV RNA 5.5 days, s 201 (1:6) HIV RNA 7.4 days, GenScreen Plus p24/anti-HIV 17.8 days, PRISM anti-HIV 19.0 days, Tigris HBV DNA 20.6 days, s 201 (1:6) HBV DNA 22.6 days, Bio-Rad hepatitis B surface antigen (HBsAg) 37.8 days, and PRISM HBsAg 35.5 days. 19389212 2009
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		0.030 Biomarker disease BEFREE Sensitivity of the recently licensed Abbott PRISM hepatitis B surface antigen (HBsAg) CLIA and minipool (MP) HBV NAT has been described as comparable and thus the need for HBV NAT has not been compelling. 18422847 2008
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		0.030 Biomarker disease BEFREE A semi-automated HCV extraction method was also implemented using the ABI PRISM 6100 Nucleic Acid PrepStation. 18551325 2008
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		0.030 GeneticVariation disease BEFREE Volunteer blood donations were screened, in parallel, for antibodies to hepatitis C virus (anti-HCV) and for human immunodeficiency virus (HIV)/HCV RNA using the Abbott PRISM HCV Chemiluminescent immunoassay (ChLIA) and the Chiron Procleix HIV-1/HCV RNA assays, respectively. 12823724 2003