PGPEP1, pyroglutamyl-peptidase I, 54858

N. diseases: 116; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004936
Disease: Mental disorders
Mental disorders 		0.110 Biomarker group BEFREE Subsequently, we surveyed 900 Colorado PCPs to identify factors associated with PCP self-efficacy in management of mental illness and team-based care. 31492096 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.110 GeneticVariation group GWASCAT Interethnic analyses of blood pressure loci in populations of East Asian and European descent. 30487518 2018
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.110 Biomarker group BEFREE The preferential stimulation of Th17 differentiation by IP signaling may have important clinical implications as PGI(2) and its analogs are commonly used to treat human pulmonary hypertension. 22590492 2012
CUI: C0004936
Disease: Mental disorders
Mental disorders 		0.110 GeneticVariation group GWASCAT A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. 20889312 2010
CUI: C0004936
Disease: Mental disorders
Mental disorders 		0.110 GeneticVariation group GWASDB A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. 20889312 2010
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		0.110 GeneticVariation group GWASCAT A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. 20889312 2010
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		0.110 GeneticVariation group GWASDB A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. 20889312 2010
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		0.110 Biomarker group BEFREE Accumulating evidence shows that mGluR5 antagonists by themselves do not necessarily disrupt pre-pulse inhibition (PPI), but can exacerbate disruption of PPI caused by MK-801 and PCP, while positive modulation of this receptor has beneficial effects on these models of psychosis. 18063347 2008
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.100 GeneticVariation group GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.100 GeneticVariation group BEFREE In vertebrate embryos undergoing convergent extension (CE), the Planar Cell Polarity (PCP) pathway drives the elongation of the body axis and shapes the central nervous system, and mutations of the PCP genes predispose humans to various malformations including neural tube defects. 30579764 2019
CUI: C0149745
Disease: Oral Ulcer
Oral Ulcer 		0.100 GeneticVariation disease GWASCAT Genome wide analysis for mouth ulcers identifies associations at immune regulatory loci. 30837455 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: C0871470
Disease: Systolic Pressure
Systolic Pressure 		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: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.100 GeneticVariation group BEFREE Knockout mice that are heterozygotes of single PCP genes likely fail to produce NTD phenotypes, yet damaging variants detected in human NTDs are almost always heterozygous, suggesting that other deleterious interacting variants are likely to be present. 29618362 2018
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.100 Biomarker group BEFREE The Looptail (Lp) mutant mouse was the first mammalian mutant implicating a PCP gene (Vangl2) in the pathogenesis of NTD. 29063958 2018
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: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.100 Biomarker group BEFREE Moreover, the Wnt/PCP-Jnk-dependent pathway plays an important role in taurine-mediated prevention of NTDs. 28718066 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: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT Variants in the FTO and CDKAL1 loci have recessive effects on risk of obesity and type 2 diabetes, respectively. 26961502 2016
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study. 26426971 2015
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT Genetic studies of body mass index yield new insights for obesity biology. 25673413 2015
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.100 GeneticVariation group BEFREE These results demonstrate that PCP gene alterations contribute to the etiology of human NTDs. 24307374 2014
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.100 GeneticVariation group BEFREE Additionally, glypicans function in the planar cell polarity (PCP) pathway, and several PCP genes have been associated with NTDs. 23223018 2013