DCTN4, dynactin subunit 4, 51164

N. diseases: 253; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.540 Biomarker disease CTD_human As part of the National Heart, Lung, and Blood Institute (NHLBI) Exome Sequencing Project (ESP), we used an extreme phenotype study design to discover that variants in DCTN4, encoding a dynactin protein, are associated with time to first P. aeruginosa airway infection, chronic P. aeruginosa infection and mucoid P. aeruginosa in individuals with cystic fibrosis. 22772370 2012
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.540 GeneticVariation disease BEFREE Our observations reinforce that DCTN4 missense variants, especially p.Tyr263Cys, may be involved in the pathogenesis of CPA in male CF. 25763772 2016
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.540 GermlineModifyingMutation disease ORPHANET As part of the National Heart, Lung, and Blood Institute (NHLBI) Exome Sequencing Project (ESP), we used an extreme phenotype study design to discover that variants in DCTN4, encoding a dynactin protein, are associated with time to first P. aeruginosa airway infection, chronic P. aeruginosa infection and mucoid P. aeruginosa in individuals with cystic fibrosis. 22772370 2012
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.540 GeneticVariation disease BEFREE For a fixed sample size, sequencing of individuals sampled from the tails of a phenotype distribution (i.e., extreme phenotypes design) maximizes power and this approach was recently validated empirically with the discovery of variants in DCTN4 that influence the natural history of P. aeruginosa airway infection in persons with cystic fibrosis (CF; MIM219700). 26047157 2015
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.540 Biomarker disease BEFREE Taken together, these results suggest that G3BP1, p62 and USP10 could be therapeutic targets for ubiquitinated protein aggregation disorders, including PD and CF. 31501480 2019
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.540 GeneticVariation disease BEFREE As part of the National Heart, Lung, and Blood Institute (NHLBI) Exome Sequencing Project (ESP), we used an extreme phenotype study design to discover that variants in DCTN4, encoding a dynactin protein, are associated with time to first P. aeruginosa airway infection, chronic P. aeruginosa infection and mucoid P. aeruginosa in individuals with cystic fibrosis. 22772370 2012
CUI: C0854135
Disease: Pseudomonas aeruginosa infection
Pseudomonas aeruginosa infection 		0.320 Biomarker disease CTD_human Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis. 22772370 2012
CUI: C0854135
Disease: Pseudomonas aeruginosa infection
Pseudomonas aeruginosa infection 		0.320 Biomarker disease BEFREE Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis. 22772370 2012
CUI: C0854135
Disease: Pseudomonas aeruginosa infection
Pseudomonas aeruginosa infection 		0.320 Biomarker disease BEFREE DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis. 25763772 2016
CUI: C0392164
Disease: Pulmonary Cystic Fibrosis
Pulmonary Cystic Fibrosis 		0.300 Biomarker disease CTD_human Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis. 22772370 2012
CUI: C1527396
Disease: Fibrocystic Disease of Pancreas
Fibrocystic Disease of Pancreas 		0.300 Biomarker disease CTD_human Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis. 22772370 2012
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma 		0.120 AlteredExpression disease BEFREE In addition one of two patients with cholangiocarcinoma expressed p62 in malignant bile duct epithelial cells. p62 expression was also detected in scattered cells in cirrhotic nodules in contrast to uniform expression in all cells in HCC nodules. 11549587 2001
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma 		0.120 AlteredExpression disease BEFREE Of 63 cholangiocarcinomas, 59 (95%) expressed p62 c-myc, 47 (75%) expressed p21 c-ras, and 46 (73%) expressed p190 c-erbB-2. 2574140 1989
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma 		0.120 GeneticVariation disease GWASCAT Genetic association analysis identifies variants associated with disease progression in primary sclerosing cholangitis. 28779025 2018
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		0.110 Biomarker disease HPO
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		0.110 Biomarker disease BEFREE In this study, we aimed to determine expressions of autophagy-related markers Beclin 1, microtubule-associated protein light chain 3 (LC3), and p62 in PQ-poisoned lungs and to explore the role of autophagy in pulmonary fibrosis induced by PQ. 30977401 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.100 AlteredExpression disease BEFREE Furthermore, the levels of p62 also significantly decreased, and the cathepsin D levels increased, accompanied by increased turnover of Aβ and APP in Se-yeast-treated AD mice. 30043821 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.100 Biomarker disease BEFREE p62, also known as sequestosome1, is a shuttle protein transporting polyubiquitinated proteins for both the proteasomal and lysosomal degradation. p62 is an integral component of inclusions in brains of various neurodegenerative disorders, including Alzheimer disease (AD) neurofibrillary tangles (NFTs) and Lewy bodies in Parkinson disease. 19557423 2009
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.100 Biomarker disease BEFREE Mutant ubiquitin and p62 immunoreactivity in cases of combined multiple system atrophy and Alzheimer's disease. 17237936 2007
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.100 AlteredExpression disease BEFREE Using a gene therapy approach, here we show that increasing brain p62 expression rescues cognitive deficits in APP/PS1 mice, a widely used animal model of AD. 27573878 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.100 AlteredExpression disease BEFREE Recent studies have demonstrated that the p62 gene expression and cytoplasmic p62 protein levels are significantly reduced in the frontal cortex of AD patients. 22138392 2012
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.100 AlteredExpression disease BEFREE The integrative approach uncovered novel miRNA-gene networks (e.g., miR-146 and miR-34 regulating p62 and Beclin1 in autophagy) that might give new insights into the complex regulatory mechanisms of gene expression in AD and cancer. 31608105 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.100 AlteredExpression disease BEFREE We found that the 8-month-old AD animals presented significantly higher deposition of Aβ(1-42) and expression of TFEB and its targeted proteins, such as LAMP-1 and cathepsin D, and autophagy-associated LC3-II and p62 in brain tissues than in others. 26368054 2015
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.100 AlteredExpression disease BEFREE Altogether, our results reveal that oxidative damage to the p62 promoter correlates with decreased expression of p62 and may contribute to age-associated neurodegenerative disease such as AD and others. 19071211 2009
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.100 Biomarker disease BEFREE Furthermore, p62 has recently been detected as a component of intracytoplasmic protein aggregates (inclusion bodies), which are hallmarks of a variety of chronic degenerative disorders, such as Parkinson's disease and Alzheimer's disease, but also of steatohepatitis. 15926199 2005