DCTN1, dynactin subunit 1, 1639

N. diseases: 116; N. variants: 15
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.700 Biomarker disease GENOMICS_ENGLAND Genetic heterogeneity of motor neuropathies. 28251916 2017
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.700 Biomarker disease GENOMICS_ENGLAND Identification of Genetic Causes of Inherited Peripheral Neuropathies by Targeted Gene Panel Sequencing. 27025386 2016
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.700 CausalMutation disease CLINVAR Distal hereditary motor neuropathy type 7B with Dynactin 1 mutation. 27573046 2016
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		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: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		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: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.700 CausalMutation disease CLINVAR Neurodegeneration mutations in dynactin impair dynein-dependent nuclear migration. 19279216 2009
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.700 Biomarker disease GENOMICS_ENGLAND DCTN1 mutations in Perry syndrome. 19136952 2009
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		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: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.700 CausalMutation disease CLINVAR The G59S mutation in p150(glued) causes dysfunction of dynactin in mice. 18094236 2007
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.700 CausalMutation disease CLINVAR A motor neuron disease-associated mutation in p150Glued perturbs dynactin function and induces protein aggregation. 16505168 2006
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.700 GeneticVariation disease UNIPROT Heterozygous R1101K mutation of the DCTN1 gene in a family with ALS and FTD. 16240349 2005
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.700 GeneticVariation disease UNIPROT Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS. 15326253 2004
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.700 CausalMutation disease CLINVAR Mutant dynactin in motor neuron disease. 12627231 2003
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.700 Biomarker disease CTD_human
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.700 Biomarker disease GENOMICS_ENGLAND