DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Pena-Shokeir syndrome type I ×

Variant: rs606231129 ×

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:

rs606231129

DOK7

CUI:	C1276035
Disease:	Pena-Shokeir syndrome type I

Pena-Shokeir syndrome type I

0.700

CausalMutation

CLINVAR

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

22661499

2012

dbSNP:

rs606231129

DOK7

CUI:	C1276035
Disease:	Pena-Shokeir syndrome type I

Pena-Shokeir syndrome type I

0.700

CausalMutation

CLINVAR

Extending the scope of diagnostic chromosome analysis: detection of single gene defects using high-resolution SNP microarrays.

21850686

2011

dbSNP:

rs606231129

DOK7

CUI:	C1276035
Disease:	Pena-Shokeir syndrome type I

Pena-Shokeir syndrome type I

0.700

CausalMutation

CLINVAR

Dok-7 mutations underlie a neuromuscular junction synaptopathy.

16917026

2006