PSMG1, proteasome assembly chaperone 1, 8624

N. diseases: 97; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.310 Biomarker disease CTD_human Genome-wide association identifies multiple ulcerative colitis susceptibility loci. 20228799 2010
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.310 GeneticVariation disease BEFREE In the pediatric cohort the associations of TNFSF15, NKX2-3 with CD, and PTGER4, NKX2-3, ZNF365, IFNG, PSMG1 with UC, were confirmed. 21818367 2011
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.040 Biomarker disease BEFREE The neuroprotective effect via PAC-1 activation suggests a potentially novel pharmacological target for the treatment of schizophrenia, via neurogenesis normalization. 28125634 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.040 Biomarker disease BEFREE Mice lacking the gene encoding pituitary adenylate cyclase-activating polypeptide (PACAP) or its specific receptor, PAC1, show abnormal behaviors related to schizophrenia. 27383213 2016
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.040 GeneticVariation disease BEFREE In addition, an association between SNPs of the PACAP or PAC1 genes and schizophrenia has been reported. 19958095 2009
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.040 GeneticVariation disease BEFREE Here, we provide evidence that genetic variants of the genes encoding PACAP and its receptor, PAC1, are associated with schizophrenia. 17387318 2007
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome 		0.040 Biomarker disease BEFREE SIDS compared to non-SIDS had higher PACAP in the MBDR (p<0.05) and lower PAC1 in the medulla arcuate nucleus (p<0.001). 28392470 2017
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome 		0.040 Biomarker disease BEFREE These findings suggest that PAC1 plays the principal role in mediating the cardiorespiratory effects of PACAP in response to hypoxic stress during neonatal development and that defective PACAP signaling via PAC1 may contribute to the pathogenesis of SIDS. 30758978 2019
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome 		0.040 GeneticVariation disease BEFREE Overall, this study does not support a strong association between variants in the PAC1 gene and SIDS; however, a number of potential associations between race-specific variants and SIDS were identified that warrant targeted investigations in future studies. 23981011 2013
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome 		0.040 Biomarker disease BEFREE Pituitary adenylate cyclase activating polypeptide (PACAP) and its cognate receptor 1 (PAC1), have been implicated in the pathophysiology of the Sudden Infant Death Syndrome (SIDS). 28506824 2017
CUI: C0017638
Disease: Glioma
Glioma 		0.030 AlteredExpression disease BEFREE Relative to normal human brain, PAC1-R expression is significantly upregulated in glioma, particularly oligodendrogliomas. 10867818 2000
CUI: C0017638
Disease: Glioma
Glioma 		0.030 Biomarker disease BEFREE We investigated PAC-1 as a single agent and in combination with TMZ against glioma cells in culture and in orthotopic rodent models of glioma. 29113289 2017
CUI: C0017638
Disease: Glioma
Glioma 		0.030 Biomarker disease BEFREE Additionally, procaspase-3 expressing glioma and meningioma cell lines were sensitive to the apoptotic effects of PAC-1 at biologically relevant exposures achievable in cancer patients. 30859090 2019
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.030 Biomarker disease BEFREE These results provide evidence that the neurotrophic effects of PACAP-38 on human SH-SY5Y neuroblastoma cells are mediated by the PAC(1) receptor through a cAMP-dependent but PKA-independent mechanism, and furthermore suggest that this involves Epac-dependent activation of ERK as well as activation of the p38 MAP kinase signaling pathway. 17995938 2008
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.030 GeneticVariation disease BEFREE PAC1 receptor splice variants missing a 21 amino acid sequence in the amino terminal domain were found to be the major receptor variants in the neuroblastoma cell lines and also were highly expressed in embryonic brain compared to adult brain. 16226889 2006
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.030 AlteredExpression disease BEFREE Calmodulin interacts with PAC1 and VPAC2 receptors and regulates PACAP-induced FOS expression in human neuroblastoma cells. 19269029 2009
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.030 GeneticVariation disease BEFREE PAC1 receptor splice variants missing a 21 amino acid sequence in the amino terminal domain were found to be the major receptor variants in the neuroblastoma cell lines and also were highly expressed in embryonic brain compared to adult brain. 16226889 2006
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.030 AlteredExpression disease BEFREE Calmodulin interacts with PAC1 and VPAC2 receptors and regulates PACAP-induced FOS expression in human neuroblastoma cells. 19269029 2009
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.030 Biomarker disease BEFREE These results provide evidence that the neurotrophic effects of PACAP-38 on human SH-SY5Y neuroblastoma cells are mediated by the PAC(1) receptor through a cAMP-dependent but PKA-independent mechanism, and furthermore suggest that this involves Epac-dependent activation of ERK as well as activation of the p38 MAP kinase signaling pathway. 17995938 2008
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.030 AlteredExpression disease BEFREE Calmodulin interacts with PAC1 and VPAC2 receptors and regulates PACAP-induced FOS expression in human neuroblastoma cells. 19269029 2009
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.030 Biomarker disease BEFREE These results provide evidence that the neurotrophic effects of PACAP-38 on human SH-SY5Y neuroblastoma cells are mediated by the PAC(1) receptor through a cAMP-dependent but PKA-independent mechanism, and furthermore suggest that this involves Epac-dependent activation of ERK as well as activation of the p38 MAP kinase signaling pathway. 17995938 2008
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.030 GeneticVariation disease BEFREE PAC1 receptor splice variants missing a 21 amino acid sequence in the amino terminal domain were found to be the major receptor variants in the neuroblastoma cell lines and also were highly expressed in embryonic brain compared to adult brain. 16226889 2006
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.020 AlteredExpression disease BEFREE Real-time polymerase chain reaction (PCR) was used to examine the effects of haloperidol, olanzapine and amisulpride on the expression of genes coding PAC1/VPAC type receptors in the T98G glioblastoma cell line, as an example of an in vitro model of glial cells. 27900577 2017
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.020 Biomarker disease BEFREE Synergistic activity of PAC-1/TMZ in rodent models and the demonstration of feasibility of the combined regime in canine patients suggest potential for PAC-1 in the treatment of glioblastoma. 29113289 2017
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.020 AlteredExpression disease BEFREE Increased PAC-1 expression among patients with multiple myeloma on concurrent thalidomide and warfarin. 24030118 2013