DisGeNET - a database of gene-disease associations

DCTN1, dynactin subunit 1, 1639

N. diseases: 116; N. variants: 15

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs886039229

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:

rs886039229

Entrez Id:	1639
Gene Symbol:	DCTN1

DCTN1

CUI:	C1868594
Disease:

Perry Syndrome

0.800

GeneticVariation

UNIPROT

Dynactin subunit p150(Glued) is a neuron-specific anti-catastrophe factor.

23874158

2013

dbSNP:

rs886039229

Entrez Id:	1639
Gene Symbol:	DCTN1

DCTN1

CUI:	C1868594
Disease:

Perry Syndrome

0.800

GeneticVariation

UNIPROT

DCTN1 mutations in Perry syndrome.

19136952

2009

dbSNP:

rs886039229

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:

rs886039229

Entrez Id:	1639
Gene Symbol:	DCTN1

DCTN1

CUI:	C1868594
Disease:

Perry Syndrome

0.800

CausalMutation

CLINVAR

dbSNP:

rs886039229

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:

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:

rs886039228

Entrez Id:	1639
Gene Symbol:	DCTN1

DCTN1

CUI:	C1868594
Disease:

Perry Syndrome

0.700

CausalMutation

CLINVAR

dbSNP:

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

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

Entrez Id:	1639
Gene Symbol:	DCTN1

DCTN1

CUI:	C1868594
Disease:

Perry Syndrome

0.820

CausalMutation

CLINVAR

dbSNP:

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

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

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

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

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

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

Entrez Id:	1639
Gene Symbol:	DCTN1

DCTN1

CUI:	C0242422
Disease:

Parkinsonian Disorders

0.020

GeneticVariation

BEFREE

A novel heterozygous mutation, DCTN1 c.156T>G, encoding p.Phe52Leu, segregates with parkinsonism in a Japanese family.

24676999

2014

dbSNP:

rs886039227

Entrez Id:	1639
Gene Symbol:	DCTN1

DCTN1

CUI:	C0242422
Disease:

Parkinsonian Disorders

0.020

GeneticVariation

BEFREE

A novel F52L DCTN1 mutation case of Perry syndrome is characterized by late-onset parkinsonism and frontotemporal atrophy.

29499916

2018

dbSNP:

rs886039227

Entrez Id:	1639
Gene Symbol:	DCTN1

DCTN1

CUI:	C0949664
Disease:

Tauopathies

0.010

GeneticVariation

BEFREE

In conjunction with long disease duration and aging, our findings suggest that the F52L DCTN1 mutation may evoke severe tauopathy and moderate α-synucleinopathy.

29499916

2018

dbSNP:

rs886039227

Entrez Id:	1639
Gene Symbol:	DCTN1

DCTN1

CUI:	C0038868
Disease:

Progressive supranuclear palsy

0.010

GeneticVariation

BEFREE

DCTN1 F52L mutation case of Perry syndrome with progressive supranuclear palsy-like tauopathy.

29499916

2018

dbSNP:

rs770153273

Entrez Id:	1639
Gene Symbol:	DCTN1

DCTN1

CUI:	C1145670
Disease:

Respiratory Failure

0.010

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:

rs770153273

Entrez Id:	1639
Gene Symbol:	DCTN1

DCTN1

CUI:	C0349251
Disease:

Behavioral syndrome associated with physiological disturbance and physical factors

0.010

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:

rs770153273

Entrez Id:	1639
Gene Symbol:	DCTN1

DCTN1

CUI:	C1868594
Disease:

Perry Syndrome

0.010

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:

rs72466496

Entrez Id:	1639
Gene Symbol:	DCTN1

DCTN1

CUI:	C4016314
Disease:

AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO

0.700

SusceptibilityMutation

CLINVAR