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:

rs121909342

Entrez Id:	1639
Gene Symbol:	DCTN1

DCTN1

CUI:	C1868594
Disease:

Perry Syndrome

0.700

CausalMutation

CLINVAR

The dynactin p150 subunit: cell biology studies of sequence changes found in ALS/MND and Parkinsonian syndromes.

23143281

2013

dbSNP:

rs121909342

Entrez Id:	1639
Gene Symbol:	DCTN1

DCTN1

CUI:	C4024896
Disease:

Motor neuron atrophy

0.010

GeneticVariation

BEFREE

A single amino acid change, G59S, in the conserved cytoskeletal-associated protein glycine-rich (CAP-Gly) domain of the p150(glued) subunit of dynactin can cause motor neuron degeneration in humans and mice, which resembles ALS (2, 5-8).

19279216

2009

dbSNP:

rs121909342

Entrez Id:	1639
Gene Symbol:	DCTN1

DCTN1

CUI:	C0085084
Disease:

Motor Neuron Disease

0.010

GeneticVariation

BEFREE

Recent studies showed that motor neuron disease-linked mutation, such as G59S mutation, could lead to dysfunction and protein aggregation of DCTN1.

31654383

2020

dbSNP:

rs121909343

Entrez Id:	1639
Gene Symbol:	DCTN1

DCTN1

CUI:	C1862939
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 1

0.700

GeneticVariation

UNIPROT

Heterozygous R1101K mutation of the DCTN1 gene in a family with ALS and FTD.

16240349

2005

dbSNP:

rs121909343

Entrez Id:	1639
Gene Symbol:	DCTN1

DCTN1

CUI:	C1862939
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 1

0.700

GeneticVariation

UNIPROT

Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS.

15326253

2004

dbSNP:

rs121909343

Entrez Id:	1639
Gene Symbol:	DCTN1

DCTN1

CUI:	C4016314
Disease:

AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO

0.700

SusceptibilityMutation

CLINVAR

dbSNP:

rs121909344

Entrez Id:	1639
Gene Symbol:	DCTN1

DCTN1

CUI:	C1862939
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 1

0.700

GeneticVariation

UNIPROT

Heterozygous R1101K mutation of the DCTN1 gene in a family with ALS and FTD.

16240349

2005

dbSNP:

rs121909344

Entrez Id:	1639
Gene Symbol:	DCTN1

DCTN1

CUI:	C1862939
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 1

0.700

GeneticVariation

UNIPROT

Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS.

15326253

2004

dbSNP:

rs121909344

Entrez Id:	1639
Gene Symbol:	DCTN1

DCTN1

CUI:	C1862939
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 1

0.700

GeneticVariation

UNIPROT

EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force.

21914052

2012

dbSNP:

rs121909344

Entrez Id:	1639
Gene Symbol:	DCTN1

DCTN1

CUI:	C1862939
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 1

0.700

GeneticVariation

UNIPROT

EFNS task force on management of amyotrophic lateral sclerosis: guidelines for diagnosing and clinical care of patients and relatives.

16324086

2005

dbSNP:

rs121909344

Entrez Id:	1639
Gene Symbol:	DCTN1

DCTN1

CUI:	C1862939
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 1

0.700

GeneticVariation

UNIPROT

Good practice in the management of amyotrophic lateral sclerosis: clinical guidelines. An evidence-based review with good practice points. EALSC Working Group.

17653917

2007

dbSNP:

rs121909344

Entrez Id:	1639
Gene Symbol:	DCTN1

DCTN1

CUI:	C0002736
Disease:

Amyotrophic Lateral Sclerosis

0.010

GeneticVariation

BEFREE

Heterozygous missense mutations of the DCTN1 gene were detected in one apparently sporadic case of ALS (T1249I), one individual with familial ALS (M571T), two patients with familial ALS, and two unaffected relatives in the same kindred (R785W).

15326253

2004

dbSNP:

rs121909345

Entrez Id:	1639
Gene Symbol:	DCTN1

DCTN1

CUI:	C1862939
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 1

0.700

GeneticVariation

UNIPROT

Heterozygous R1101K mutation of the DCTN1 gene in a family with ALS and FTD.

16240349

2005

dbSNP:

rs121909345

Entrez Id:	1639
Gene Symbol:	DCTN1

DCTN1

CUI:	C1862939
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 1

0.700

GeneticVariation

UNIPROT

Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS.

15326253

2004

dbSNP:

rs121909345

Entrez Id:	1639
Gene Symbol:	DCTN1

DCTN1

CUI:	C4016314
Disease:

AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO

0.700

SusceptibilityMutation

CLINVAR

dbSNP:

rs121909345

Entrez Id:	1639
Gene Symbol:	DCTN1

DCTN1

CUI:	C0002736
Disease:

Amyotrophic Lateral Sclerosis

0.010

GeneticVariation

BEFREE

The R1101K sequence alteration of the DCTN1 gene may predispose subjects to ALS and FTD.

16240349

2005

dbSNP:

rs121909345

Entrez Id:	1639
Gene Symbol:	DCTN1

DCTN1

CUI:	C0338451
Disease:

Frontotemporal dementia

0.010

GeneticVariation

BEFREE

The R1101K sequence alteration of the DCTN1 gene may predispose subjects to ALS and FTD.

16240349

2005

dbSNP:

rs12993079

Entrez Id:	1639
Gene Symbol:	DCTN1

DCTN1

CUI:	C0002736
Disease:

Amyotrophic Lateral Sclerosis

0.010

GeneticVariation

BEFREE

The authors find that the D90A and E100K SOD1 gene mutations found in some patients are not the exclusive cause of ALS in these pedigrees.

20460594

2010

dbSNP:

rs566433112

Entrez Id:	1639
Gene Symbol:	DCTN1

DCTN1

CUI:	C0038868
Disease:

Progressive supranuclear palsy

0.010

GeneticVariation

BEFREE

We have identified DCTN1 p.K56R in patients with PSP.

27132499

2016

dbSNP:

rs67586389

Entrez Id:	1639
Gene Symbol:	DCTN1

DCTN1

CUI:	C1868594
Disease:

Perry Syndrome

0.710

GeneticVariation

BEFREE

To test the hypothesis that the G71A mutation in the DCTN1 gene is sufficient to cause Perry syndrome, we generated DCTN1<sup>G71A</sup> transgenic mice.

29273399

2018

dbSNP:

rs67586389

Entrez Id:	1639
Gene Symbol:	DCTN1

DCTN1

CUI:	C1868594
Disease:

Perry Syndrome

0.710

CausalMutation

CLINVAR

dbSNP:

rs67586389

Entrez Id:	1639
Gene Symbol:	DCTN1

DCTN1

CUI:	C1868594
Disease:

Perry Syndrome

0.710

CausalMutation

CLINVAR

dbSNP:

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

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

Entrez Id:	1639
Gene Symbol:	DCTN1

DCTN1

CUI:	C1868594
Disease:

Perry Syndrome

0.810

GeneticVariation

UNIPROT

DCTN1 mutations in Perry syndrome.

19136952

2009