Gene: DCTN1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886039227
rs886039227
DCTN1
0.820 GeneticVariation BEFREE Gene analysis identified a p.F52L mutation in DCTN1 and she was diagnosed with Perry syndrome. 29499916

2018
dbSNP: rs886039227
rs886039227
DCTN1
0.820 GeneticVariation BEFREE To develop a novel model, we generated induced pluripotent stem cells (iPSCs) from a Perry syndrome patient with F52L mutation in DCTN1, and describe clinical and neuroimaging investigations. 27346608

2016
dbSNP: rs886039227
rs886039227
DCTN1
0.820 GeneticVariation UNIPROT α-Tubulin Tyrosination and CLIP-170 Phosphorylation Regulate the Initiation of Dynein-Driven Transport in Neurons. 26972003

2016
dbSNP: rs886039227
rs886039227
DCTN1
0.820 GeneticVariation UNIPROT A novel DCTN1 mutation with late-onset parkinsonism and frontotemporal atrophy. 24676999

2014
dbSNP: rs886039227
rs886039227
DCTN1
0.820 GeneticVariation UNIPROT Dynactin functions as both a dynamic tether and brake during dynein-driven motility. 25185702

2014
dbSNP: rs886039227
rs886039227
DCTN1
0.820 GeneticVariation UNIPROT Three families with Perry syndrome from distinct parts of the world. 24881494

2014
dbSNP: rs886039227
rs886039227
DCTN1
0.820 GeneticVariation UNIPROT Dynactin subunit p150(Glued) is a neuron-specific anti-catastrophe factor. 23874158

2013
dbSNP: rs886039227
rs886039227
DCTN1
0.820 GeneticVariation UNIPROT DCTN1 mutations in Perry syndrome. 19136952

2009
dbSNP: rs886039227
rs886039227
DCTN1
C 0.820 CausalMutation CLINVAR

dbSNP: rs72466485
rs72466485
DCTN1
0.810 GeneticVariation UNIPROT α-Tubulin Tyrosination and CLIP-170 Phosphorylation Regulate the Initiation of Dynein-Driven Transport in Neurons. 26972003

2016
dbSNP: rs72466485
rs72466485
DCTN1
0.810 GeneticVariation UNIPROT Three families with Perry syndrome from distinct parts of the world. 24881494

2014
dbSNP: rs72466485
rs72466485
DCTN1
0.810 GeneticVariation UNIPROT Dynactin functions as both a dynamic tether and brake during dynein-driven motility. 25185702

2014
dbSNP: rs72466485
rs72466485
DCTN1
0.810 GeneticVariation UNIPROT A novel DCTN1 mutation with late-onset parkinsonism and frontotemporal atrophy. 24676999

2014
dbSNP: rs72466485
rs72466485
DCTN1
0.810 GeneticVariation UNIPROT Dynactin subunit p150(Glued) is a neuron-specific anti-catastrophe factor. 23874158

2013
dbSNP: rs72466485
rs72466485
DCTN1
0.810 GeneticVariation 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
dbSNP: rs72466485
rs72466485
DCTN1
0.810 GeneticVariation UNIPROT DCTN1 mutations in Perry syndrome. 19136952

2009
dbSNP: rs72466485
rs72466485
DCTN1
T 0.810 CausalMutation CLINVAR

dbSNP: rs72466486
rs72466486
DCTN1
0.800 GeneticVariation UNIPROT α-Tubulin Tyrosination and CLIP-170 Phosphorylation Regulate the Initiation of Dynein-Driven Transport in Neurons. 26972003

2016
dbSNP: rs72466487
rs72466487
DCTN1
0.800 GeneticVariation UNIPROT α-Tubulin Tyrosination and CLIP-170 Phosphorylation Regulate the Initiation of Dynein-Driven Transport in Neurons. 26972003

2016
dbSNP: rs886039229
rs886039229
DCTN1
0.800 GeneticVariation UNIPROT α-Tubulin Tyrosination and CLIP-170 Phosphorylation Regulate the Initiation of Dynein-Driven Transport in Neurons. 26972003

2016
dbSNP: rs72466486
rs72466486
DCTN1
0.800 GeneticVariation UNIPROT A novel DCTN1 mutation with late-onset parkinsonism and frontotemporal atrophy. 24676999

2014
dbSNP: rs72466486
rs72466486
DCTN1
0.800 GeneticVariation UNIPROT Dynactin functions as both a dynamic tether and brake during dynein-driven motility. 25185702

2014
dbSNP: rs72466486
rs72466486
DCTN1
0.800 GeneticVariation UNIPROT Three families with Perry syndrome from distinct parts of the world. 24881494

2014
dbSNP: rs72466487
rs72466487
DCTN1
0.800 GeneticVariation UNIPROT A novel DCTN1 mutation with late-onset parkinsonism and frontotemporal atrophy. 24676999

2014
dbSNP: rs72466487
rs72466487
DCTN1
0.800 GeneticVariation UNIPROT Dynactin functions as both a dynamic tether and brake during dynein-driven motility. 25185702

2014