DCTN1, dynactin subunit 1, 1639

N. diseases: 116; N. variants: 15
Disease: Neuronopathy, Distal Hereditary Motor, Type Viib ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1843315
Disease: Neuronopathy, Distal Hereditary Motor, Type Viib
Neuronopathy, Distal Hereditary Motor, Type Viib 		0.700 Biomarker disease GENOMICS_ENGLAND Genetic heterogeneity of motor neuropathies. 28251916 2017
CUI: C1843315
Disease: Neuronopathy, Distal Hereditary Motor, Type Viib
Neuronopathy, Distal Hereditary Motor, Type Viib 		0.700 Biomarker disease GENOMICS_ENGLAND Alteration of Motor Protein Expression Involved in Bidirectional Transport in Peripheral Blood Mononuclear Cells of Patients with Amyotrophic Lateral Sclerosis. 26954557 2016
CUI: C1843315
Disease: Neuronopathy, Distal Hereditary Motor, Type Viib
Neuronopathy, Distal Hereditary Motor, Type Viib 		0.700 CausalMutation disease CLINVAR Distal hereditary motor neuropathy type 7B with Dynactin 1 mutation. 27573046 2016
CUI: C1843315
Disease: Neuronopathy, Distal Hereditary Motor, Type Viib
Neuronopathy, Distal Hereditary Motor, Type Viib 		0.700 Biomarker disease GENOMICS_ENGLAND Identification of Genetic Causes of Inherited Peripheral Neuropathies by Targeted Gene Panel Sequencing. 27025386 2016
CUI: C1843315
Disease: Neuronopathy, Distal Hereditary Motor, Type Viib
Neuronopathy, Distal Hereditary Motor, Type Viib 		0.700 CausalMutation disease CLINVAR The dynactin p150 subunit: cell biology studies of sequence changes found in ALS/MND and Parkinsonian syndromes. 23143281 2013
CUI: C1843315
Disease: Neuronopathy, Distal Hereditary Motor, Type Viib
Neuronopathy, Distal Hereditary Motor, Type Viib 		0.700 GeneticVariation disease UNIPROT Tubulin-binding cofactor B is a direct interaction partner of the dynactin subunit p150(Glued). 22777741 2012
CUI: C1843315
Disease: Neuronopathy, Distal Hereditary Motor, Type Viib
Neuronopathy, Distal Hereditary Motor, Type Viib 		0.700 GeneticVariation disease UNIPROT DCTN1 mutations in Perry syndrome. 19136952 2009
CUI: C1843315
Disease: Neuronopathy, Distal Hereditary Motor, Type Viib
Neuronopathy, Distal Hereditary Motor, Type Viib 		0.700 Biomarker disease GENOMICS_ENGLAND DCTN1 mutations in Perry syndrome. 19136952 2009
CUI: C1843315
Disease: Neuronopathy, Distal Hereditary Motor, Type Viib
Neuronopathy, Distal Hereditary Motor, Type Viib 		0.700 CausalMutation disease CLINVAR Neurodegeneration mutations in dynactin impair dynein-dependent nuclear migration. 19279216 2009
CUI: C1843315
Disease: Neuronopathy, Distal Hereditary Motor, Type Viib
Neuronopathy, Distal Hereditary Motor, Type Viib 		0.700 GeneticVariation disease UNIPROT Neurodegeneration mutations in dynactin impair dynein-dependent nuclear migration. 19279216 2009
CUI: C1843315
Disease: Neuronopathy, Distal Hereditary Motor, Type Viib
Neuronopathy, Distal Hereditary Motor, Type Viib 		0.700 CausalMutation disease CLINVAR Lysosomal proliferation and distal degeneration in motor neurons expressing the G59S mutation in the p150Glued subunit of dynactin. 18364389 2008
CUI: C1843315
Disease: Neuronopathy, Distal Hereditary Motor, Type Viib
Neuronopathy, Distal Hereditary Motor, Type Viib 		0.700 CausalMutation disease CLINVAR The G59S mutation in p150(glued) causes dysfunction of dynactin in mice. 18094236 2007
CUI: C1843315
Disease: Neuronopathy, Distal Hereditary Motor, Type Viib
Neuronopathy, Distal Hereditary Motor, Type Viib 		0.700 GeneticVariation disease UNIPROT A motor neuron disease-associated mutation in p150Glued perturbs dynactin function and induces protein aggregation. 16505168 2006
CUI: C1843315
Disease: Neuronopathy, Distal Hereditary Motor, Type Viib
Neuronopathy, Distal Hereditary Motor, Type Viib 		0.700 CausalMutation disease CLINVAR A motor neuron disease-associated mutation in p150Glued perturbs dynactin function and induces protein aggregation. 16505168 2006
CUI: C1843315
Disease: Neuronopathy, Distal Hereditary Motor, Type Viib
Neuronopathy, Distal Hereditary Motor, Type Viib 		0.700 CausalMutation disease CLINVAR Mutant dynactin in motor neuron disease. 12627231 2003
CUI: C1843315
Disease: Neuronopathy, Distal Hereditary Motor, Type Viib
Neuronopathy, Distal Hereditary Motor, Type Viib 		0.700 GeneticVariation disease UNIPROT Mutant dynactin in motor neuron disease. 12627231 2003
CUI: C1843315
Disease: Neuronopathy, Distal Hereditary Motor, Type Viib
Neuronopathy, Distal Hereditary Motor, Type Viib 		0.700 Biomarker disease CTD_human
CUI: C1843315
Disease: Neuronopathy, Distal Hereditary Motor, Type Viib
Neuronopathy, Distal Hereditary Motor, Type Viib 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1843315
Disease: Neuronopathy, Distal Hereditary Motor, Type Viib
Neuronopathy, Distal Hereditary Motor, Type Viib 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1843315
Disease: Neuronopathy, Distal Hereditary Motor, Type Viib
Neuronopathy, Distal Hereditary Motor, Type Viib 		0.700 Biomarker disease GENOMICS_ENGLAND