DCTN1, dynactin subunit 1, 1639

N. diseases: 116; N. variants: 15
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 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 GENOMICS_ENGLAND Genetic heterogeneity of motor neuropathies. 28251916 2017
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 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 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 Biomarker disease GENOMICS_ENGLAND DCTN1 mutations in Perry syndrome. 19136952 2009
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 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 The G59S mutation in p150(glued) causes dysfunction of dynactin in mice. 18094236 2007
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
Amyotrophic Lateral Sclerosis, Familial 		0.300 Biomarker disease CTD_human
CUI: C1862941
Disease: Amyotrophic Lateral Sclerosis, Sporadic
Amyotrophic Lateral Sclerosis, Sporadic 		0.310 GeneticVariation disease BEFREE DCTN1 gene analysis in Chinese patients with sporadic amyotrophic lateral sclerosis. 28792508 2017
CUI: C1862941
Disease: Amyotrophic Lateral Sclerosis, Sporadic
Amyotrophic Lateral Sclerosis, Sporadic 		0.310 Biomarker disease CTD_human
CUI: C4016314
Disease: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO
AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO 		0.100 SusceptibilityMutation phenotype CLINVAR
CUI: C0003467
Disease: Anxiety
Anxiety 		0.100 Biomarker disease HPO
CUI: C0085632
Disease: Apathy
Apathy 		0.100 Biomarker phenotype HPO
CUI: C4522245
Disease: Atypical Spitz Nevus
Atypical Spitz Nevus 		0.010 Biomarker disease BEFREE STUMP un"stumped": anti-tumor response to anaplastic lymphoma kinase (ALK) inhibitor based targeted therapy in uterine inflammatory myofibroblastic tumor with myxoid features harboring DCTN1-ALK fusion. 26062823 2015
CUI: C0752097
Disease: Autosomal Dominant Juvenile Parkinson Disease
Autosomal Dominant Juvenile Parkinson Disease 		0.300 Biomarker disease CTD_human DCTN1 mutations in Perry syndrome. 19136952 2009
CUI: C0752098
Disease: Autosomal Dominant Parkinsonism
Autosomal Dominant Parkinsonism 		0.320 Biomarker disease CTD_human DCTN1 mutations in Perry syndrome. 19136952 2009
CUI: C0752098
Disease: Autosomal Dominant Parkinsonism
Autosomal Dominant Parkinsonism 		0.320 GeneticVariation disease BEFREE Perry syndrome is a rare form of autosomal dominant Parkinsonism with respiratory failure recently defined as being due to mutations in the DCTN1 gene. 20437543 2010
CUI: C0752098
Disease: Autosomal Dominant Parkinsonism
Autosomal Dominant Parkinsonism 		0.320 GeneticVariation disease BEFREE Perry syndrome (PS) caused by DCTN1 gene mutation is clinically characterized by autosomal dominant parkinsonism, depression, severe weight loss, and hypoventilation. 24484619 2014
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism 		0.300 Biomarker disease CTD_human DCTN1 mutations in Perry syndrome. 19136952 2009
CUI: C0349251
Disease: Behavioral syndrome associated with physiological disturbance and physical factors
Behavioral syndrome associated with physiological disturbance and physical factors 		0.010 GeneticVariation disease 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
CUI: C4011788
Disease: Behavioral variant of frontotemporal dementia
Behavioral variant of frontotemporal dementia 		0.010 GeneticVariation disease BEFREE Our study demonstrates that DCTN1 mutations should be searched for in patients with clinical PSP-like phenotypes and a behavioral variant of frontotemporal dementia, especially when a familial history of dementia, psychiatric disturbances, associated parkinsonism, or an autosomal dominant disorder is present. 24343258 2014
CUI: C0233565
Disease: Bradykinesia
Bradykinesia 		0.100 Biomarker phenotype HPO