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: C0751396
Disease: Well Differentiated Oligodendroglioma
Well Differentiated Oligodendroglioma 		0.010 AlteredExpression disease BEFREE Relative to normal human brain, PAC1-R expression is significantly upregulated in glioma, particularly oligodendrogliomas. 10867818 2000
CUI: C0041912
Disease: Upper Respiratory Infections
Upper Respiratory Infections 		0.010 Biomarker group BEFREE Correlations were found between PACAP and PAC1 with the risk factors of smoke exposure, bed sharing, upper respiratory tract infection (URTI) and seasonal temperatures. 28392470 2017
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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 Biomarker phenotype BEFREE MiR-34c-3p suppresses the proliferation and invasion of non-small cell lung cancer (NSCLC) by inhibiting PAC1/MAPK pathway. 26261507 2015
CUI: C1519670
Disease: Tumor Angiogenesis
Tumor Angiogenesis 		0.010 Biomarker phenotype BEFREE When given to mice bearing subcutaneous or orthotopic xenograft, PAC-1 and WF-210 inhibited the tumor growth and tumor angiogenesis. 29269017 2018
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: C0038443
Disease: Stress, Psychological
Stress, Psychological 		0.010 Biomarker disease BEFREE In contrast, it is unclear if the PACAP-PAC1 receptor pathway has a role in human psychological stress responses, such as post-traumatic stress disorder (PTSD). 21350482 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: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.010 Biomarker disease BEFREE 4% of platelets was in activated state (evaluated in term of Annexin V and PAC-1 positivity) in RA patients at baseline, and that the 76% of platelets displayed mitochondrial hyperpolarization. 30524940 2018
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.020 Biomarker disease BEFREE These experiments demonstrate that GRK3 plays an important role in the homologous desensitization of retinoblastoma PAC(1) receptors, whereas PKC, but not PKA, contributes to the heterologous desensitization of retinoblastoma PAC(1) receptors. 11166332 2001
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.020 Biomarker disease BEFREE Three full-length cDNAs encoding functional splice variants of the pituitary adenylate cyclase-activating polypeptide (PACAP) type 1 receptor (PAC1) were isolated from Y-79 retinoblastoma cells and human cerebellum. 10583729 1999
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.020 Biomarker disease BEFREE These observations provide additional evidence for a role of PACAP and PAC1 R in the events determining the outcome of PCa. 16888207 2006
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.020 AlteredExpression disease BEFREE PAC1-R null isoform expression in human prostate cancer tissue. 16372333 2006
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.020 AlteredExpression disease BEFREE These results suggest that PAC(1) and VPAC(1) receptors regulate VEGF expression in lung cancer cells. 12409225 2002
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.020 AlteredExpression disease BEFREE Although mRNA for VPAC2-R is not common, VPAC1-R and PAC1-R mRNA is present in many lung cancer cell lines. 11193832 2000
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.030 AlteredExpression group BEFREE Finally, PAC-1 remains potent against vemurafenib-resistant A375VR cells in cell culture and synergizes with vemurafenib to exert antitumor effects on A375VR cell growth in vivo Collectively, our data suggest that inhibition of MAPK signaling combined with concurrent procaspase-3 activation is an effective strategy to enhance the antitumor activity of vemurafenib and mitigate the development of resistance.Mol Cancer Ther; 15(8); 1859-69.©2016 AACR. 27297867 2016
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.030 Biomarker group BEFREE Pac 1 binds to PI4K2A and disrupts the PKR/PI4K2A-associated lysosome complex, contributing to destabilization of cancer cell lysosomes and triggering cell death. 31554935 2020
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.030 Biomarker group BEFREE A weaker immunostaining of PAC1 receptors in normal tissue and a strong density of the three PACAP/VIP receptor subclasses in cancer tissue may be related to differential expression patterns during breast tumor progression but more samples need to be studied to validate this hypothesis. 16019382 2005