DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Pena-Shokeir syndrome type I ×

Variant: rs1560224831 ×

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:

rs1560224831

DOK7

CUI:	C1276035
Disease:	Pena-Shokeir syndrome type I

Pena-Shokeir syndrome type I

CCTCT

0.700

CausalMutation

CLINVAR

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

25237101

2014

dbSNP:

rs1560224831

DOK7

CUI:	C1276035
Disease:	Pena-Shokeir syndrome type I

Pena-Shokeir syndrome type I

CCTCT

0.700

CausalMutation

CLINVAR

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

22661499

2012

dbSNP:

rs1560224831

DOK7

CUI:	C1276035
Disease:	Pena-Shokeir syndrome type I

Pena-Shokeir syndrome type I

CCTCT

0.700

CausalMutation

CLINVAR

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

18165682

2008

dbSNP:

rs1560224831

DOK7

CUI:	C1276035
Disease:	Pena-Shokeir syndrome type I

Pena-Shokeir syndrome type I

CCTCT

0.700

CausalMutation

CLINVAR

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

18626973

2008

dbSNP:

rs1560224831

DOK7

CUI:	C1276035
Disease:	Pena-Shokeir syndrome type I

Pena-Shokeir syndrome type I

CCTCT

0.700

CausalMutation

CLINVAR

Dok-7 mutations underlie a neuromuscular junction synaptopathy.

16917026

2006