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 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: 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: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.100 Biomarker group BEFREE Our study demonstrates that PRICKLE1 could act as a predisposing factor to human NTDs and further expands our knowledge of the role of PCP genes in the pathogenesis of these malformations. 21901791 2011
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.100 Biomarker group BEFREE Homozygous disruption of PCP genes in mice results in a spectrum of NTDs, including defects that affect the entire neural axis (craniorachischisis), cranial NTDs (exencephaly) and spina bifida. 21840926 2011
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
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.100 Biomarker group BEFREE We suggest that other PCP genes should be considered as candidates for a role in the etiology of human NTDs. 19129707 2009
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 Moreover, the Wnt/PCP-Jnk-dependent pathway plays an important role in taurine-mediated prevention of NTDs. 28718066 2017
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: 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: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.100 Biomarker group BEFREE Here, we summarize our current understanding of how PCP factors affect the pathogenesis of NTDs. 21864354 2011
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: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.090 AlteredExpression phenotype BEFREE Phosphoglucose isomerase/autocrine motility factor (PGI/AMF) is a housekeeping gene product present in all cells, is an essential enzyme of catabolic glycolysis and anabolic gluconeogenesis, and regulates tumor cell growth and metastasis. 17925402 2007
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.090 Biomarker phenotype BEFREE These results suggest for the first time that PGI/AMF is a key gene to both EMT in the initiating step of cancer metastasis and MET in the later stage of metastasis during breast cancer progression. 19531650 2009
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.090 Biomarker phenotype BEFREE Supported by enzymatic docking and in vitro experiments, PCP-1 showed efficiency to visualize MAO-A overexpressing cells and inhibit their growth and metastasis potential. 31621760 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.090 Biomarker phenotype BEFREE Mammalian PGI is a multi-functional protein which, besides its glycolytic function, can also act as a cytokine, growth factor and inducer of angiogenesis, and plays a role in tumour growth, development and metastasis formation. 20600070 2010
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.090 Biomarker phenotype BEFREE This newly characterized PARP-14 protein should assist in understanding the regulation of PGI/AMF intracellular function(s) and may provide a new therapeutic target for inhibition of PGI/AMF inducing tumor cell migration and invasion during metastasis. 17875708 2007
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.090 Biomarker phenotype BEFREE PGI is a multifunctional dimeric protein that extracellularly acts as a cytokine with properties that include autocrine motility factor (AMF) eliciting mitogenic, motogenic, differentiation functions and has been implicated in tumor progression and metastasis. 16126909 2005
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.090 Biomarker phenotype BEFREE Phosphoglucose isomerase/autocrine motility factor (PGI/AMF) is secreted by tumors and influences tumor growth and metastasis. 26936801 2016
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.090 Biomarker phenotype BEFREE Furthermore, CTHRC1 promotes GIST cell migration and invasion by activating Wnt/PCP-Rho signaling, suggesting that the CTHRC1-Wnt/PCP-Rho axis may be a new therapeutic target for interventions against GIST invasion and metastasis. 24726140 2014
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.090 Biomarker phenotype BEFREE Phosphoglucose isomerase/autocrine motility factor (PGI/AMF) plays an important role in glycolysis and gluconeogenesis and is associated with invasion and metastasis of cancer cells. 21389093 2011
CUI: C1535939
Disease: Pneumocystis jiroveci pneumonia
Pneumocystis jiroveci pneumonia
0.090 Biomarker disease BEFREE Our data suggest that core Frizzled/PCP factors, acting through RhoA and Rho kinase, regulate the function/activity of integrins and that integrins thus contribute to the complex interaction network of PCP signalling, cell adhesion and cytoskeletal elements required for a precise and synchronous 90° rotation movement. 31409231 2019
CUI: C1535939
Disease: Pneumocystis jiroveci pneumonia
Pneumocystis jiroveci pneumonia
0.090 Biomarker disease BEFREE A 10-year-old girl was referred to our hospital for the treatment of Pneumocystis Jirovecii Pneumonia (PCP: Pneumocystis pneumonia). 29138020 2018
CUI: C1535939
Disease: Pneumocystis jiroveci pneumonia
Pneumocystis jiroveci pneumonia
0.090 Biomarker disease BEFREE Pneumocystis pneumonia or PCP is caused by Pneumocystis jirovecii, an obligate parasite of the human lung. 15531210 2004