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 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 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 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 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 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 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 BEFREE DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis. 25763772 2016
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: C0033817
Disease: Pseudomonas Infections
Pseudomonas Infections 		0.300 Biomarker group CTD_human Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis. 22772370 2012
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 GeneticVariation disease GWASCAT Genetic association analysis identifies variants associated with disease progression in primary sclerosing cholangitis. 28779025 2018
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: 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: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		0.110 Biomarker group BEFREE Consistently, genetic ablation of p62 suppressed breast cancer metastasis in both zebrafish embryo and immunodeficient mouse models, as well as decreased tumourigenicity in vivo. 28968743 2017
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		0.110 Biomarker group HPO
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		0.110 Biomarker disease HPO
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.100 Biomarker phenotype BEFREE The following clusters were found in the dendrogram: Nrf2 and p21 with ATP5B and GADPH in all the tissues and with NRF1 in all except the tumor tissues with metastasis; Bach1 with ATP5B and GAPDH in the tumor tissues; Keap1 with p62 in all the tissues, with LC3 in the tumor tissues and with NRF1 and HO1 in the tumor tissues with metastasis. 31796664 2020
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE Mechanistically, the Lmdd-MPFG vaccine activates the NF-κB pathway in the tumor-associated macrophages (TAMs) through the TLR2 and MyD88 pathway, and recruits p62 to activate the autophagy pathway. 31659256 2020
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: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.100 Biomarker disease BEFREE Our results suggest a difference in HR23B aggregation and co-localization pattern with DPRs, pTDP-43 and p62 between different brain areas from C9FTD/ALS cases. 30867060 2019
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.100 GeneticVariation disease BEFREE Previously, two ALS-FTLD-associated p62 mutant proteins within the Keap1 interacting region (KIR) of p62 were found to be associated with decreased Keap1-p62 binding and Nrf2 activation. 30954537 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 Biomarker group BEFREE The role of p62 in cancer is controversial. 30793399 2019