|
Abnormal behavior
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
Mutations of the DCTN1 gene have been previously associated with amyotrophic lateral sclerosis and with Perry syndrome, a rare autosomal dominant disorder characterized by weight loss, parkinsonism, central hypoventilation, and psychiatric disturbances.
|
24343258 |
2014 |
|
Abnormal lower motor neuron morphology
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Abnormality of metabolism/homeostasis
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Agitation
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Agitation, CTCAE 3.0
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Agitation, CTCAE 5.0
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Alstrom Syndrome
|
0.010 |
Biomarker
|
disease |
BEFREE |
Human DCTN1: genomic structure and evaluation as a candidate for Alström syndrome.
|
9799602 |
1998 |
|
Amputation Stumps
|
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 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Missense mutations in a dynactin gene (DCTN1) encoding the p150(Glued) subunit of dynactin have been linked to both familial and sporadic ALS.
|
18305234 |
2008 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
GeneticVariation
|
disease |
ORPHANET |
Genetics of amyotrophic lateral sclerosis: an update.
|
23941283 |
2013 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Mutations in the p150 subunit of the axonal transport protein dynactin (DCTN1) have been reported in patients with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
|
17824900 |
2007 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Reduced levels of DCTN1 mRNA and protein have been found in sporadic amyotrophic lateral sclerosis (ALS) patients, and mutations have been associated with disease, but the role of this protein in disease pathogenesis is still unknown.
|
31291987 |
2019 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our results suggested that variants in DCTN1 are not common risk factors for Chinese sporadic ALS and that the frequency of variants of unknown significance in the cohort study was 0.39%.
|
28792508 |
2017 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This study suggests that pathogenic mutations in DCTN1 are rare and do not play a common role in the development of Parkinson disease, frontotemporal lobar degeneration, or amyotrophic lateral sclerosis.
|
19506225 |
2009 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the DCTN1 gene have been previously associated with amyotrophic lateral sclerosis and with Perry syndrome, a rare autosomal dominant disorder characterized by weight loss, parkinsonism, central hypoventilation, and psychiatric disturbances.
|
24343258 |
2014 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Variant filtering identified potentially deleterious mutations in three known disease genes: DCTN1, KIF5A and NEFH, which have been all associated with similar clinical presentations of amyotrophic lateral sclerosis, Parkinsonism and/or hereditary spastic paraplegia.
|
25957632 |
2015 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the Dynactin 1 (DCTN1) gene have been demonstrated to result in various neurodegenerative diseases, including distal hereditary motor neuropathy type 7B (dHMN7B), Perry syndrome, amyotrophic lateral sclerosis and amyotrophic lateral sclerosis‑frontotemporal dementia.
|
27573046 |
2016 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The R1101K sequence alteration of the DCTN1 gene may predispose subjects to ALS and FTD.
|
16240349 |
2005 |
|
Amyotrophic Lateral Sclerosis
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|
|
Amyotrophic Lateral Sclerosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Direct sequencing analyses were performed in 19 genes, including ALS/frontotemporal lobar degeneration (FTLD)-related genes (SOD2, SOD3, ALS2/alsin, SMN1, PGRN, ANG, VEGF, VCP, VAPB, DCTN1, CHMP2B, and TARDBP or TDP-43), tauopathy-related gene (GSK3beta), and parkinsonism-related genes (alpha-synuclein, LRRK2, parkin, DJ-1, PINK1, and ATP13A2).
|
18759352 |
2008 |
|
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 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
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 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Neurodegeneration mutations in dynactin impair dynein-dependent nuclear migration.
|
19279216 |
2009 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|