RNF123, ring finger protein 123, 63891

N. diseases: 22; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.310 Biomarker disease PSYGENET To explore the status of this gene in the acute depressive state we have quantified the expression of RNF123 in the blood leukocytes (N=17), dorsolateral prefrontal and cingulate cortex (N=24) of patients with diagnosed depression and of matched controls. 23668904 2013
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.310 AlteredExpression disease BEFREE To explore the status of this gene in the acute depressive state we have quantified the expression of RNF123 in the blood leukocytes (N=17), dorsolateral prefrontal and cingulate cortex (N=24) of patients with diagnosed depression and of matched controls. 23668904 2013
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.310 Biomarker disease PSYGENET To explore the status of this gene in the acute depressive state we have quantified the expression of RNF123 in the blood leukocytes (N=17), dorsolateral prefrontal and cingulate cortex (N=24) of patients with diagnosed depression and of matched controls. 23668904 2013
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.310 AlteredExpression disease BEFREE To explore the status of this gene in the acute depressive state we have quantified the expression of RNF123 in the blood leukocytes (N=17), dorsolateral prefrontal and cingulate cortex (N=24) of patients with diagnosed depression and of matched controls. 23668904 2013
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.310 Biomarker disease PSYGENET Top-ranked endophenotypes included the Beck Depression Inventory, bilateral ventral diencephalon volume, and expression levels of the RNF123 transcript. 21982424 2012
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.310 Biomarker disease PSYGENET Top-ranked endophenotypes included the Beck Depression Inventory, bilateral ventral diencephalon volume, and expression levels of the RNF123 transcript. 21982424 2012
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: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.100 GeneticVariation phenotype GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.100 GeneticVariation phenotype GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.010 AlteredExpression disease BEFREE In the present study, KPC1 expression was heightened in left ventricular cardiomyocytes of patients with coronary heart disease (CHD), in I/R-myocardium in vivo and in hypoxia and reoxygenation (H/R)-induced cardiomyocytes in vitro. 31148189 2019
CUI: C0338106
Disease: Adenocarcinoma of colon
Adenocarcinoma of colon 		0.010 Biomarker disease BEFREE The effect of anti-PD-L1 mouse monoclonal (mAb) and a TGF-β type I receptor small molecule kinase inhibitor (LY364947) was evaluated in the highly immunogenic mouse MC38 colon adenocarcinoma and the poorly immunogenic mouse KPC1 pancreatic tumor model. 30959852 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 PosttranslationalModification group BEFREE These findings suggest the potential utility of KPC1 and its epigenetic regulation as theranostic targets.<i>Clin Cancer Res; 23(16); 4831-42.©2017 AACR</i>. 28389511 2017
CUI: C0025202
Disease: melanoma
melanoma 		0.010 AlteredExpression disease BEFREE The objective of this study was to investigate the mechanisms regulating KPC1 expression and its clinical impact in melanoma.<b>Experimental Design:</b> The clinical impact of KPC1 expression and its epigenetic regulation were assessed in large cohorts of clinically well-annotated melanoma tissues (tissue microarrays; <i>n</i> = 137, JWCI cohort; <i>n</i> = 40) and The Cancer Genome Atlas database (TCGA cohort, <i>n</i> = 370). 28389511 2017
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma 		0.010 AlteredExpression disease BEFREE Concordantly, KPC1 expression was downregulated in American Joint Committee on Cancer stage IV melanoma compared with early stages (stage I/II <i>P</i> = 0.013, stage III <i>P</i> = 0.004), and low KPC1 expression was significantly associated with poor overall survival in stage IV melanoma (<i>n</i> = 137; HR 1.810; <i>P</i> = 0.006). 28389511 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 PosttranslationalModification group BEFREE These findings suggest the potential utility of KPC1 and its epigenetic regulation as theranostic targets.<i>Clin Cancer Res; 23(16); 4831-42.©2017 AACR</i>. 28389511 2017
CUI: C1321872
Disease: Stage IV Skin Melanoma
Stage IV Skin Melanoma 		0.010 AlteredExpression disease BEFREE Concordantly, KPC1 expression was downregulated in American Joint Committee on Cancer stage IV melanoma compared with early stages (stage I/II <i>P</i> = 0.013, stage III <i>P</i> = 0.004), and low KPC1 expression was significantly associated with poor overall survival in stage IV melanoma (<i>n</i> = 137; HR 1.810; <i>P</i> = 0.006). 28389511 2017
CUI: C4520732
Disease: Stage IV Cutaneous Melanoma AJCC v6 and v7
Stage IV Cutaneous Melanoma AJCC v6 and v7 		0.010 AlteredExpression disease BEFREE Concordantly, KPC1 expression was downregulated in American Joint Committee on Cancer stage IV melanoma compared with early stages (stage I/II <i>P</i> = 0.013, stage III <i>P</i> = 0.004), and low KPC1 expression was significantly associated with poor overall survival in stage IV melanoma (<i>n</i> = 137; HR 1.810; <i>P</i> = 0.006). 28389511 2017
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 Biomarker disease BEFREE In humans, low expression of Kip1 ubiquitination-promoting complex 1 (KPC1), a ubiquitin ligase required for p105 to p50 processing, was shown to correlate with a reduction in p50 and glioblastoma incidence. 26663363 2016
CUI: C0042769
Disease: Virus Diseases
Virus Diseases 		0.010 Biomarker group BEFREE Knockdown or knockout of endogenous RNF123 potentiates IFN-β production triggered by SeV and EMCV, but not by the sensor of DNA viruses cGAS RNF123 associates with RIG-I and MDA5 in both endogenous and exogenous cases in a viral infection-inducible manner. 27312109 2016
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.010 Biomarker disease BEFREE In humans, low expression of Kip1 ubiquitination-promoting complex 1 (KPC1), a ubiquitin ligase required for p105 to p50 processing, was shown to correlate with a reduction in p50 and glioblastoma incidence. 26663363 2016
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 Biomarker disease BEFREE In humans, low expression of Kip1 ubiquitination-promoting complex 1 (KPC1), a ubiquitin ligase required for p105 to p50 processing, was shown to correlate with a reduction in p50 and glioblastoma incidence. 26663363 2016
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.010 Biomarker disease BEFREE In humans, low expression of Kip1 ubiquitination-promoting complex 1 (KPC1), a ubiquitin ligase required for p105 to p50 processing, was shown to correlate with a reduction in p50 and glioblastoma incidence. 26663363 2016
CUI: C0270458
Disease: Severe major depression with psychotic features
Severe major depression with psychotic features 		0.010 AlteredExpression disease BEFREE RNF123 was overexpressed by 45% in the cingulate cortex of patients with psychotic depression. 23668904 2013