Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs606231131
rs606231131
DOK7
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		TCTGG 0.700 CausalMutation CLINVAR The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome. 22661499

2012
dbSNP: rs606231131
rs606231131
DOK7
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		TCTGG 0.700 CausalMutation CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333

2011
dbSNP: rs606231131
rs606231131
DOK7
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		TCTGG 0.700 CausalMutation CLINVAR Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7. 20458068

2010
dbSNP: rs606231131
rs606231131
DOK7
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		TCTGG 0.700 CausalMutation CLINVAR Congenital stridor with feeding difficulty as a presenting symptom of Dok7 congenital myasthenic syndrome. 20554332

2010
dbSNP: rs606231131
rs606231131
DOK7
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		TCTGG 0.700 CausalMutation CLINVAR Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations. 19837590

2009
dbSNP: rs606231131
rs606231131
DOK7
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		TCTGG 0.700 CausalMutation CLINVAR Clinical features of the DOK7 neuromuscular junction synaptopathy. 17452375

2007
dbSNP: rs606231131
rs606231131
DOK7
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		TCTGG 0.700 CausalMutation CLINVAR Dok-7 mutations underlie a neuromuscular junction synaptopathy. 16917026

2006