DCTN1, dynactin subunit 1, 1639

N. diseases: 116; N. variants: 15
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886039227
rs886039227
Entrez Id: 1639
Gene Symbol: DCTN1
DCTN1
CUI: C1868594
Disease:
Perry Syndrome 		0.820 GeneticVariation BEFREE Gene analysis identified a p.F52L mutation in DCTN1 and she was diagnosed with Perry syndrome. 29499916 2018
dbSNP: rs886039227
rs886039227
Entrez Id: 1639
Gene Symbol: DCTN1
DCTN1
CUI: C1868594
Disease:
Perry Syndrome 		0.820 GeneticVariation BEFREE To develop a novel model, we generated induced pluripotent stem cells (iPSCs) from a Perry syndrome patient with F52L mutation in DCTN1, and describe clinical and neuroimaging investigations. 27346608 2016
dbSNP: rs886039227
rs886039227
Entrez Id: 1639
Gene Symbol: DCTN1
DCTN1
CUI: C1868594
Disease:
Perry Syndrome 		0.820 GeneticVariation UNIPROT α-Tubulin Tyrosination and CLIP-170 Phosphorylation Regulate the Initiation of Dynein-Driven Transport in Neurons. 26972003 2016
dbSNP: rs886039227
rs886039227
Entrez Id: 1639
Gene Symbol: DCTN1
DCTN1
CUI: C1868594
Disease:
Perry Syndrome 		0.820 GeneticVariation UNIPROT A novel DCTN1 mutation with late-onset parkinsonism and frontotemporal atrophy. 24676999 2014
dbSNP: rs886039227
rs886039227
Entrez Id: 1639
Gene Symbol: DCTN1
DCTN1
CUI: C1868594
Disease:
Perry Syndrome 		0.820 GeneticVariation UNIPROT Dynactin functions as both a dynamic tether and brake during dynein-driven motility. 25185702 2014
dbSNP: rs886039227
rs886039227
Entrez Id: 1639
Gene Symbol: DCTN1
DCTN1
CUI: C1868594
Disease:
Perry Syndrome 		0.820 GeneticVariation UNIPROT Three families with Perry syndrome from distinct parts of the world. 24881494 2014
dbSNP: rs886039227
rs886039227
Entrez Id: 1639
Gene Symbol: DCTN1
DCTN1
CUI: C1868594
Disease:
Perry Syndrome 		0.820 GeneticVariation UNIPROT Dynactin subunit p150(Glued) is a neuron-specific anti-catastrophe factor. 23874158 2013
dbSNP: rs886039227
rs886039227
Entrez Id: 1639
Gene Symbol: DCTN1
DCTN1
CUI: C1868594
Disease:
Perry Syndrome 		0.820 GeneticVariation UNIPROT DCTN1 mutations in Perry syndrome. 19136952 2009
dbSNP: rs886039227
rs886039227
Entrez Id: 1639
Gene Symbol: DCTN1
DCTN1
CUI: C1868594
Disease:
Perry Syndrome 		C 0.820 CausalMutation CLINVAR
dbSNP: rs72466485
rs72466485
Entrez Id: 1639
Gene Symbol: DCTN1
DCTN1
CUI: C1868594
Disease:
Perry Syndrome 		0.810 GeneticVariation UNIPROT α-Tubulin Tyrosination and CLIP-170 Phosphorylation Regulate the Initiation of Dynein-Driven Transport in Neurons. 26972003 2016
dbSNP: rs72466485
rs72466485
Entrez Id: 1639
Gene Symbol: DCTN1
DCTN1
CUI: C1868594
Disease:
Perry Syndrome 		0.810 GeneticVariation UNIPROT Three families with Perry syndrome from distinct parts of the world. 24881494 2014
dbSNP: rs72466485
rs72466485
Entrez Id: 1639
Gene Symbol: DCTN1
DCTN1
CUI: C1868594
Disease:
Perry Syndrome 		0.810 GeneticVariation UNIPROT Dynactin functions as both a dynamic tether and brake during dynein-driven motility. 25185702 2014
dbSNP: rs72466485
rs72466485
Entrez Id: 1639
Gene Symbol: DCTN1
DCTN1
CUI: C1868594
Disease:
Perry Syndrome 		0.810 GeneticVariation UNIPROT A novel DCTN1 mutation with late-onset parkinsonism and frontotemporal atrophy. 24676999 2014
dbSNP: rs72466485
rs72466485
Entrez Id: 1639
Gene Symbol: DCTN1
DCTN1
CUI: C1868594
Disease:
Perry Syndrome 		0.810 GeneticVariation UNIPROT Dynactin subunit p150(Glued) is a neuron-specific anti-catastrophe factor. 23874158 2013
dbSNP: rs72466485
rs72466485
Entrez Id: 1639
Gene Symbol: DCTN1
DCTN1
CUI: C1868594
Disease:
Perry Syndrome 		0.810 GeneticVariation BEFREE Perry syndrome due to the DCTN1 G71R mutation: a distinctive levodopa responsive disorder with behavioral syndrome, vertical gaze palsy, and respiratory failure. 20437543 2010
dbSNP: rs72466485
rs72466485
Entrez Id: 1639
Gene Symbol: DCTN1
DCTN1
CUI: C1868594
Disease:
Perry Syndrome 		0.810 GeneticVariation UNIPROT DCTN1 mutations in Perry syndrome. 19136952 2009
dbSNP: rs72466485
rs72466485
Entrez Id: 1639
Gene Symbol: DCTN1
DCTN1
CUI: C1868594
Disease:
Perry Syndrome 		T 0.810 CausalMutation CLINVAR
dbSNP: rs121909342
rs121909342
Entrez Id: 1639
Gene Symbol: DCTN1
DCTN1
CUI: C1843315
Disease:
Neuronopathy, Distal Hereditary Motor, Type Viib 		T 0.800 CausalMutation CLINVAR Codon 59 appears to be the mutational hot spot in the DCTN1 gene, as all described dHMN7B patients to date have harbored an identical p.G59S mutation. 27573046 2016
dbSNP: rs72466486
rs72466486
Entrez Id: 1639
Gene Symbol: DCTN1
DCTN1
CUI: C1868594
Disease:
Perry Syndrome 		0.800 GeneticVariation UNIPROT α-Tubulin Tyrosination and CLIP-170 Phosphorylation Regulate the Initiation of Dynein-Driven Transport in Neurons. 26972003 2016
dbSNP: rs72466487
rs72466487
Entrez Id: 1639
Gene Symbol: DCTN1
DCTN1
CUI: C1868594
Disease:
Perry Syndrome 		0.800 GeneticVariation UNIPROT α-Tubulin Tyrosination and CLIP-170 Phosphorylation Regulate the Initiation of Dynein-Driven Transport in Neurons. 26972003 2016
dbSNP: rs886039229
rs886039229
Entrez Id: 1639
Gene Symbol: DCTN1
DCTN1
CUI: C1868594
Disease:
Perry Syndrome 		0.800 GeneticVariation UNIPROT α-Tubulin Tyrosination and CLIP-170 Phosphorylation Regulate the Initiation of Dynein-Driven Transport in Neurons. 26972003 2016
dbSNP: rs72466486
rs72466486
Entrez Id: 1639
Gene Symbol: DCTN1
DCTN1
CUI: C1868594
Disease:
Perry Syndrome 		0.800 GeneticVariation UNIPROT A novel DCTN1 mutation with late-onset parkinsonism and frontotemporal atrophy. 24676999 2014
dbSNP: rs72466486
rs72466486
Entrez Id: 1639
Gene Symbol: DCTN1
DCTN1
CUI: C1868594
Disease:
Perry Syndrome 		0.800 GeneticVariation UNIPROT Dynactin functions as both a dynamic tether and brake during dynein-driven motility. 25185702 2014
dbSNP: rs72466486
rs72466486
Entrez Id: 1639
Gene Symbol: DCTN1
DCTN1
CUI: C1868594
Disease:
Perry Syndrome 		0.800 GeneticVariation UNIPROT Three families with Perry syndrome from distinct parts of the world. 24881494 2014
dbSNP: rs72466487
rs72466487
Entrez Id: 1639
Gene Symbol: DCTN1
DCTN1
CUI: C1868594
Disease:
Perry Syndrome 		0.800 GeneticVariation UNIPROT A novel DCTN1 mutation with late-onset parkinsonism and frontotemporal atrophy. 24676999 2014