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: 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: rs121909342
rs121909342
Entrez Id: 1639
Gene Symbol: DCTN1
DCTN1
CUI: C1843315
Disease:
Neuronopathy, Distal Hereditary Motor, Type Viib 		0.800 GeneticVariation UNIPROT DCTN1 mutations in Perry syndrome. 19136952 2009
dbSNP: rs121909342
rs121909342
Entrez Id: 1639
Gene Symbol: DCTN1
DCTN1
CUI: C1843315
Disease:
Neuronopathy, Distal Hereditary Motor, Type Viib 		0.800 GeneticVariation UNIPROT Mutant dynactin in motor neuron disease. 12627231 2003
dbSNP: rs121909342
rs121909342
Entrez Id: 1639
Gene Symbol: DCTN1
DCTN1
CUI: C1843315
Disease:
Neuronopathy, Distal Hereditary Motor, Type Viib 		T 0.800 CausalMutation CLINVAR The dynactin p150 subunit: cell biology studies of sequence changes found in ALS/MND and Parkinsonian syndromes. 23143281 2013
dbSNP: rs121909342
rs121909342
Entrez Id: 1639
Gene Symbol: DCTN1
DCTN1
CUI: C1843315
Disease:
Neuronopathy, Distal Hereditary Motor, Type Viib 		T 0.800 CausalMutation CLINVAR Neurodegeneration mutations in dynactin impair dynein-dependent nuclear migration. 19279216 2009
dbSNP: rs121909342
rs121909342
Entrez Id: 1639
Gene Symbol: DCTN1
DCTN1
CUI: C1843315
Disease:
Neuronopathy, Distal Hereditary Motor, Type Viib 		T 0.800 CausalMutation CLINVAR Mutant dynactin in motor neuron disease. 12627231 2003
dbSNP: rs121909342
rs121909342
Entrez Id: 1639
Gene Symbol: DCTN1
DCTN1
CUI: C1843315
Disease:
Neuronopathy, Distal Hereditary Motor, Type Viib 		0.800 GeneticVariation UNIPROT A motor neuron disease-associated mutation in p150Glued perturbs dynactin function and induces protein aggregation. 16505168 2006
dbSNP: rs121909342
rs121909342
Entrez Id: 1639
Gene Symbol: DCTN1
DCTN1
CUI: C1843315
Disease:
Neuronopathy, Distal Hereditary Motor, Type Viib 		T 0.800 CausalMutation CLINVAR The G59S mutation in p150(glued) causes dysfunction of dynactin in mice. 18094236 2007
dbSNP: rs121909342
rs121909342
Entrez Id: 1639
Gene Symbol: DCTN1
DCTN1
CUI: C1843315
Disease:
Neuronopathy, Distal Hereditary Motor, Type Viib 		0.800 GeneticVariation UNIPROT Neurodegeneration mutations in dynactin impair dynein-dependent nuclear migration. 19279216 2009
dbSNP: rs121909342
rs121909342
Entrez Id: 1639
Gene Symbol: DCTN1
DCTN1
CUI: C1843315
Disease:
Neuronopathy, Distal Hereditary Motor, Type Viib 		0.800 GeneticVariation UNIPROT Tubulin-binding cofactor B is a direct interaction partner of the dynactin subunit p150(Glued). 22777741 2012
dbSNP: rs121909342
rs121909342
Entrez Id: 1639
Gene Symbol: DCTN1
DCTN1
CUI: C1843315
Disease:
Neuronopathy, Distal Hereditary Motor, Type Viib 		T 0.800 CausalMutation CLINVAR A motor neuron disease-associated mutation in p150Glued perturbs dynactin function and induces protein aggregation. 16505168 2006
dbSNP: rs121909342
rs121909342
Entrez Id: 1639
Gene Symbol: DCTN1
DCTN1
CUI: C1843315
Disease:
Neuronopathy, Distal Hereditary Motor, Type Viib 		T 0.800 CausalMutation CLINVAR Lysosomal proliferation and distal degeneration in motor neurons expressing the G59S mutation in the p150Glued subunit of dynactin. 18364389 2008
dbSNP: rs121909342
rs121909342
Entrez Id: 1639
Gene Symbol: DCTN1
DCTN1
CUI: C1868594
Disease:
Perry Syndrome 		T 0.700 CausalMutation CLINVAR The G59S mutation in p150(glued) causes dysfunction of dynactin in mice. 18094236 2007
dbSNP: rs121909342
rs121909342
Entrez Id: 1639
Gene Symbol: DCTN1
DCTN1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1 		T 0.700 CausalMutation CLINVAR A motor neuron disease-associated mutation in p150Glued perturbs dynactin function and induces protein aggregation. 16505168 2006
dbSNP: rs121909342
rs121909342
Entrez Id: 1639
Gene Symbol: DCTN1
DCTN1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1 		T 0.700 CausalMutation CLINVAR Distal hereditary motor neuropathy type 7B with Dynactin 1 mutation. 27573046 2016
dbSNP: rs121909342
rs121909342
Entrez Id: 1639
Gene Symbol: DCTN1
DCTN1
CUI: C1868594
Disease:
Perry Syndrome 		T 0.700 CausalMutation CLINVAR Lysosomal proliferation and distal degeneration in motor neurons expressing the G59S mutation in the p150Glued subunit of dynactin. 18364389 2008
dbSNP: rs121909342
rs121909342
Entrez Id: 1639
Gene Symbol: DCTN1
DCTN1
CUI: C1868594
Disease:
Perry Syndrome 		T 0.700 CausalMutation CLINVAR Mutant dynactin in motor neuron disease. 12627231 2003
dbSNP: rs121909342
rs121909342
Entrez Id: 1639
Gene Symbol: DCTN1
DCTN1
CUI: C1868594
Disease:
Perry Syndrome 		T 0.700 CausalMutation CLINVAR Neurodegeneration mutations in dynactin impair dynein-dependent nuclear migration. 19279216 2009
dbSNP: rs121909342
rs121909342
Entrez Id: 1639
Gene Symbol: DCTN1
DCTN1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1 		T 0.700 CausalMutation CLINVAR Neurodegeneration mutations in dynactin impair dynein-dependent nuclear migration. 19279216 2009
dbSNP: rs121909342
rs121909342
Entrez Id: 1639
Gene Symbol: DCTN1
DCTN1
CUI: C1868594
Disease:
Perry Syndrome 		T 0.700 CausalMutation CLINVAR A motor neuron disease-associated mutation in p150Glued perturbs dynactin function and induces protein aggregation. 16505168 2006
dbSNP: rs121909342
rs121909342
Entrez Id: 1639
Gene Symbol: DCTN1
DCTN1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1 		T 0.700 CausalMutation CLINVAR Lysosomal proliferation and distal degeneration in motor neurons expressing the G59S mutation in the p150Glued subunit of dynactin. 18364389 2008
dbSNP: rs121909342
rs121909342
Entrez Id: 1639
Gene Symbol: DCTN1
DCTN1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1 		T 0.700 CausalMutation CLINVAR Mutant dynactin in motor neuron disease. 12627231 2003
dbSNP: rs121909342
rs121909342
Entrez Id: 1639
Gene Symbol: DCTN1
DCTN1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1 		T 0.700 CausalMutation CLINVAR The G59S mutation in p150(glued) causes dysfunction of dynactin in mice. 18094236 2007
dbSNP: rs121909342
rs121909342
Entrez Id: 1639
Gene Symbol: DCTN1
DCTN1
CUI: C1868594
Disease:
Perry Syndrome 		T 0.700 CausalMutation CLINVAR Distal hereditary motor neuropathy type 7B with Dynactin 1 mutation. 27573046 2016
dbSNP: rs121909342
rs121909342
Entrez Id: 1639
Gene Symbol: DCTN1
DCTN1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1 		T 0.700 CausalMutation CLINVAR The dynactin p150 subunit: cell biology studies of sequence changes found in ALS/MND and Parkinsonian syndromes. 23143281 2013