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 Biomarker disease CTD_human
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 HPO
CUI: C2936170
Disease: Patent Ductus Arteriosus Familial
Patent Ductus Arteriosus Familial
0.300 Biomarker disease CTD_human
CUI: C0002170
Disease: Alopecia
Alopecia
0.100 GeneticVariation disease GWASCAT Genetic prediction of male pattern baldness. 28196072 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: 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: 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: 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 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: 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
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: 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
Human immunodeficiency virus (HIV) II infection category B1
0.020 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
Human immunodeficiency virus (HIV) II infection category B1
0.020 Biomarker 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
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.010 Biomarker disease BEFREE This review represents the output of the collaborative group "PRISM", tasked with considering assay choices for assessment of attention and working memory in a transdiagnostic cohort of Alzheimer's disease and schizophrenia patients exhibiting symptomatic spectra of social withdrawal. 30399355 2019
CUI: C0003467
Disease: Anxiety
Anxiety
0.010 GeneticVariation disease BEFREE We explored the relationship of a visual measure of suffering, the PRISM-RII, with quality of life (QoL) and anxiety measures in IBS patients. 28744463 2017
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
0.010 Biomarker disease BEFREE The assessment tools included the following: (1) the PRISM-R2, yielding Self-Illness Separation (SIS) and Illness Perception Measure (IPM); (2) distress thermometer (DT), a measure of thyroid cancer-related distress; (3) posttraumatic growth inventory (PTGI); (4) 12-item Short-Form health survey (SF-12); and (5) the Supportive Care Needs Survey Short Form (SCNS-SF34). 29644472 2018
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.010 GeneticVariation disease BEFREE The operating temperature of a commercially available capillary electrophoresis instrument (ABI PRISM 310) was expanded by installation of a cheap in-house designed cooling system, thereby allowing us to perform automated SSCP analysis at 14-45 degrees C. We have used the method for detection of point mutations associated with the inherited cardiac disorders long QT syndrome (LQTS) and hypertrophic cardiomyopathy (HCM). 10220146 1999
CUI: C0007766
Disease: Intracranial Aneurysm
Intracranial Aneurysm
0.010 GeneticVariation disease BEFREE We found that the suggestive IA locus at 5q23.2 in PRDM6 was significantly associated with SBP in individuals of European descent (p(FIN)  =  3.01E-05, p(ICBP-GWAS)  =  0.0007, p(ALL)  =  8.13E-07). 22438818 2012
CUI: C0011206
Disease: Delirium
Delirium
0.010 GeneticVariation disease BEFREE Children who were more seriously ill, such as those in a pediatric ICU (PICU) and those with a high Pediatric Risk of Mortality II (PRISM II) score, and children who were mechanically ventilated were at greater risk for development of delirium. 29543606 2018
Diabetes Mellitus, Insulin-Dependent
0.010 GeneticVariation disease BEFREE Homogeneous groups of 70 patients with AITD, 70 with type 1 diabetes (T1D), 70 with both AITD and T1D (PGA), and 100 healthy controls were genotyped for the CTLA-4 CT60 and TNF-alpha-863 polymorphisms by minisequencing on an ABI PRISM-3100 genetic analyzer. 19530270 2009