DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Pena-Shokeir syndrome type I ×

Variant: rs606231128 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs606231128

DOK7

CUI:	C1276035
Disease:	Pena-Shokeir syndrome type I

Pena-Shokeir syndrome type I

AGCCT

0.700

CausalMutation

CLINVAR

Neuromuscular disease. DOK7 gene therapy benefits mouse models of diseases characterized by defects in the neuromuscular junction.

25237101

2014

dbSNP:

rs606231128

DOK7

CUI:	C1276035
Disease:	Pena-Shokeir syndrome type I

Pena-Shokeir syndrome type I

AGCCT

0.700

CausalMutation

CLINVAR

Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations.

23219351

2013

dbSNP:

rs606231128

DOK7

CUI:	C1276035
Disease:	Pena-Shokeir syndrome type I

Pena-Shokeir syndrome type I

AGCCT

0.700

CausalMutation

CLINVAR

Salbutamol therapy in congenital myasthenic syndrome due to DOK7 mutation.

23790237

2013

dbSNP:

rs606231128

DOK7

CUI:	C1276035
Disease:	Pena-Shokeir syndrome type I

Pena-Shokeir syndrome type I

AGCCT

0.700

CausalMutation

CLINVAR

The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.

22661499

2012

dbSNP:

rs606231128

DOK7

CUI:	C1276035
Disease:	Pena-Shokeir syndrome type I

Pena-Shokeir syndrome type I

AGCCT

0.700

CausalMutation

CLINVAR

Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7.

20458068

2010

dbSNP:

rs606231128

DOK7

CUI:	C1276035
Disease:	Pena-Shokeir syndrome type I

Pena-Shokeir syndrome type I

AGCCT

0.700

CausalMutation

CLINVAR

Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7.

20012313

2010

dbSNP:

rs606231128

DOK7

CUI:	C1276035
Disease:	Pena-Shokeir syndrome type I

Pena-Shokeir syndrome type I

AGCCT

0.700

CausalMutation

CLINVAR

Mutations causing DOK7 congenital myasthenia ablate functional motifs in Dok-7.

18165682

2008

dbSNP:

rs606231128

DOK7

CUI:	C1276035
Disease:	Pena-Shokeir syndrome type I

Pena-Shokeir syndrome type I

AGCCT

0.700

CausalMutation

CLINVAR

Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients.

18626973

2008

dbSNP:

rs606231128

DOK7

CUI:	C1276035
Disease:	Pena-Shokeir syndrome type I

Pena-Shokeir syndrome type I

AGCCT

0.700

CausalMutation

CLINVAR

Clinical features of the DOK7 neuromuscular junction synaptopathy.

17452375

2007

dbSNP:

rs606231128

DOK7

CUI:	C1276035
Disease:	Pena-Shokeir syndrome type I

Pena-Shokeir syndrome type I

AGCCT

0.700

CausalMutation

CLINVAR

Dok-7 mutations underlie a neuromuscular junction synaptopathy.

16917026

2006

dbSNP:

rs606231128

DOK7

CUI:	C1276035
Disease:	Pena-Shokeir syndrome type I

Pena-Shokeir syndrome type I

AGCCT

0.700

CausalMutation

CLINVAR

Rheological aspects of red blood cell aggregation.

2261499

1990