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 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: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.310 Biomarker disease CTD_human Genome-wide association identifies multiple ulcerative colitis susceptibility loci. 20228799 2010
CUI: C0005890
Disease: Body Height
Body Height
0.100 GeneticVariation phenotype GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340 2019
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders
0.050 Biomarker group BEFREE Our results demonstrate that the repetitive electrical stimulation model can simulate the allodynia during the migraine chronification, and PACAP plays a role in the pathogenesis of migraine potentially via PAC1 receptor. 30799680 2019
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders
0.050 Biomarker group BEFREE The selective increase in pituitary adenylate cyclase-activating polypeptide-related receptors suggests that the PAC1 receptor pathway is a novel target for the treatment of migraine. 28776455 2018
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders
0.050 Biomarker group BEFREE In the present review we summarize the protective effects of PACAP in ischemia, especially in neuronal ischemic injuries, and discuss possible points to consider when developing strategies in migraine therapy interfering with the PACAP/PAC1 receptor system. 29500688 2018
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders
0.050 AlteredExpression group BEFREE The expression of PAC1 receptors and the high potency of PACAP to induce MMA vasodilation are consistent with their potential roles in the etiology of migraine. 22766684 2012
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders
0.050 Biomarker group BEFREE We pharmacologically characterized pituitary adenylate cyclase-activating polypeptides (PACAPs), vasoactive intestinal peptide (VIP) and the VPAC(1), VPAC(2) and PAC(1) receptors in human meningeal (for their role in migraine) and coronary (for potential side effects) arteries. 20974589 2011
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.040 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: C0027651
Disease: Neoplasms
Neoplasms
0.040 GeneticVariation group BEFREE Based on these findings a decrease or lack of the PAC1 receptor/PACAP signalling might have an influence on tumour growth and/or differentiation. 31788045 2019
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: C0027651
Disease: Neoplasms
Neoplasms
0.040 Biomarker group 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: 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: 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 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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.040 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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.040 AlteredExpression group BEFREE Therefore, the aim of the present study was to investigate expression of PACAP and its PAC1 receptor in human thyroid papillary carcinoma, the most common endocrine malignant tumor. 27566169 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 AlteredExpression group BEFREE Both IL-2 vectors exerted significant tumor growth delay; however, attempts to further enhance antitumor activity of the IL-2 vectors by combining with the proapoptotic drug procaspase activating compound 1 (PAC1) were unsuccessful. 27151235 2016
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: 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: 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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.040 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
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 AlteredExpression group BEFREE The expression analysis of the DSCR2 gene in different human tumour derived cell lines indicates that the gene is expressed in all proliferating cell lines tested. 10872820 2000
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