Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs751889864
rs751889864
MUSK ; LOC107987115
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.800 GeneticVariation UNIPROT

dbSNP: rs751889864
rs751889864
MUSK ; LOC107987115
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		C 0.800 CausalMutation CLINVAR

dbSNP: rs104894299
rs104894299
RAPSN
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		T 0.700 CausalMutation CLINVAR Use of next-generation sequencing as a diagnostic tool for congenital myasthenic syndrome. 25194721

2014
dbSNP: rs104894299
rs104894299
RAPSN
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		T 0.700 CausalMutation CLINVAR Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. 24319099

2014
dbSNP: rs104894299
rs104894299
RAPSN
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		T 0.700 CausalMutation CLINVAR Carrier testing for severe childhood recessive diseases by next-generation sequencing. 21228398

2011
dbSNP: rs104894299
rs104894299
RAPSN
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		T 0.700 CausalMutation CLINVAR Investigation for RAPSN and DOK-7 mutations in a cohort of seronegative myasthenia gravis patients. 21305573

2011
dbSNP: rs104894299
rs104894299
RAPSN
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		T 0.700 CausalMutation CLINVAR Identification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes. 20157724

2010
dbSNP: rs104894299
rs104894299
RAPSN
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		T 0.700 CausalMutation CLINVAR Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations. 16945936

2006
dbSNP: rs104894299
rs104894299
RAPSN
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		T 0.700 CausalMutation CLINVAR Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes. 14504330

2003
dbSNP: rs104894299
rs104894299
RAPSN
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		T 0.700 CausalMutation CLINVAR Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients. 12796535

2003
dbSNP: rs104894299
rs104894299
RAPSN
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		T 0.700 CausalMutation CLINVAR Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome. 11791205

2002
dbSNP: rs104894299
rs104894299
RAPSN
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs121909254
rs121909254
RAPSN
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		T 0.700 GeneticVariation CLINVAR Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients. 19620612

2009
dbSNP: rs121909254
rs121909254
RAPSN
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		T 0.700 GeneticVariation CLINVAR Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations. 17594401

2007
dbSNP: rs1479498379
rs1479498379
RAPSN
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1554757237
rs1554757237
MUSK
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555142603
rs1555142603
RAPSN
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1560224831
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
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
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
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
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
dbSNP: rs551423795
rs551423795
MUSK
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs606231128
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
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