DCTN4, dynactin subunit 4, 51164

N. diseases: 253; N. variants: 4
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs7731017
rs7731017
Entrez Id: 51164
Gene Symbol: DCTN4
DCTN4
CUI: C0206698
Disease:
Cholangiocarcinoma
G 0.700 GeneticVariation GWASCAT Genetic association analysis identifies variants associated with disease progression in primary sclerosing cholangitis. 28779025 2018
dbSNP: rs7731017
rs7731017
Entrez Id: 51164
Gene Symbol: DCTN4
DCTN4
CUI: C0008313
Disease:
Cholangitis, Sclerosing
G 0.700 GeneticVariation GWASCAT Genetic association analysis identifies variants associated with disease progression in primary sclerosing cholangitis. 28779025 2018
dbSNP: rs35772018
rs35772018
Entrez Id: 51164
Gene Symbol: DCTN4
DCTN4
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
C 0.700 GeneticVariation GWASCAT Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. 28604730 2017
dbSNP: rs144113005
rs144113005
Entrez Id: 51164
Gene Symbol: DCTN4
DCTN4
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis
0.030 GeneticVariation BEFREE In agreement, the hSOD1 G93A mouse model reveals that ALS-resistant CrMNs accumulate less insoluble hSOD1 and p62-containing inclusions than SpMNs. 31157617 2019
dbSNP: rs144113005
rs144113005
Entrez Id: 51164
Gene Symbol: DCTN4
DCTN4
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis
0.030 GeneticVariation BEFREE In the present study, we investigated the effect of simvastatin on NSC34cells stably transfected with the G93A mutation in human SOD1 (NSC34-hSOD1G93A cells), a recognized in vitro model of ALS. 31051215 2019
dbSNP: rs144113005
rs144113005
Entrez Id: 51164
Gene Symbol: DCTN4
DCTN4
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis
0.030 GeneticVariation BEFREE Trehalose decreases mutant SOD1 expression and alleviates motor deficiency in early but not end-stage amyotrophic lateral sclerosis in a SOD1-G93A mouse model. 25841320 2015
dbSNP: rs35772018
rs35772018
Entrez Id: 51164
Gene Symbol: DCTN4
DCTN4
CUI: C0010674
Disease:
Cystic Fibrosis
0.010 GeneticVariation BEFREE Our observations reinforce that DCTN4 missense variants, especially p.Tyr263Cys, may be involved in the pathogenesis of CPA in male CF. 25763772 2016
dbSNP: rs371557337
rs371557337
Entrez Id: 51164
Gene Symbol: DCTN4
DCTN4
CUI: C0002726
Disease:
Amyloidosis
0.010 GeneticVariation BEFREE Overall, our in vitro and in vivo studies establish an association between TTR V30M aggregates and autophagy impairment and suggest the use of autophagy modulators as an additional and alternative therapeutic approach for the treatment of TTR V30M-related amyloidosis. 27382986 2016
dbSNP: rs371557337
rs371557337
Entrez Id: 51164
Gene Symbol: DCTN4
DCTN4
CUI: C0524851
Disease:
Neurodegenerative Disorders
0.010 GeneticVariation BEFREE In the present study we aimed to study TTR V30M aggregates effect in autophagy, a cellular mechanism crucial for cell survival that has been implicated in the development of several neurodegenerative diseases. 27382986 2016