DisGeNET - a database of gene-disease associations

Perry Syndrome, C1868594

Variant: rs121909342 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121909342

DCTN1

0.700

CausalMutation

CLINVAR

Distal hereditary motor neuropathy type 7B with Dynactin 1 mutation.

27573046

2016

dbSNP:

rs121909342

DCTN1

0.700

CausalMutation

CLINVAR

The dynactin p150 subunit: cell biology studies of sequence changes found in ALS/MND and Parkinsonian syndromes.

23143281

2013

dbSNP:

rs121909342

DCTN1

0.700

CausalMutation

CLINVAR

Neurodegeneration mutations in dynactin impair dynein-dependent nuclear migration.

19279216

2009

dbSNP:

rs121909342

DCTN1

0.700

CausalMutation

CLINVAR

Lysosomal proliferation and distal degeneration in motor neurons expressing the G59S mutation in the p150Glued subunit of dynactin.

18364389

2008

dbSNP:

rs121909342

DCTN1

0.700

CausalMutation

CLINVAR

The G59S mutation in p150(glued) causes dysfunction of dynactin in mice.

18094236

2007

dbSNP:

rs121909342

DCTN1

0.700

CausalMutation

CLINVAR

A motor neuron disease-associated mutation in p150Glued perturbs dynactin function and induces protein aggregation.

16505168

2006

dbSNP:

rs121909342

DCTN1

0.700

CausalMutation

CLINVAR

Mutant dynactin in motor neuron disease.

12627231

2003