Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 285489
Gene Symbol: DOK7
DOK7 		0.910 Biomarker disease GENOMICS_ENGLAND Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder. 30266093 2018
Entrez Id: 285489
Gene Symbol: DOK7
DOK7 		0.910 CausalMutation disease CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
Entrez Id: 285489
Gene Symbol: DOK7
DOK7 		0.910 GeneticVariation disease BEFREE The muscle protein Dok-7 is essential for activation of the receptor kinase MuSK, which governs NMJ formation, and DOK7 mutations underlie familial limb-girdle myasthenia (DOK7 myasthenia), a neuromuscular disease characterized by small NMJs. 25237101 2014
Entrez Id: 285489
Gene Symbol: DOK7
DOK7 		0.910 Biomarker disease MGD Neuromuscular disease. DOK7 gene therapy benefits mouse models of diseases characterized by defects in the neuromuscular junction. 25237101 2014
Entrez Id: 285489
Gene Symbol: DOK7
DOK7 		0.910 CausalMutation disease CLINVAR Neuromuscular disease. DOK7 gene therapy benefits mouse models of diseases characterized by defects in the neuromuscular junction. 25237101 2014
Entrez Id: 285489
Gene Symbol: DOK7
DOK7 		0.910 CausalMutation disease CLINVAR Salbutamol therapy in congenital myasthenic syndrome due to DOK7 mutation. 23790237 2013
Entrez Id: 285489
Gene Symbol: DOK7
DOK7 		0.910 CausalMutation disease CLINVAR Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations. 23219351 2013
Entrez Id: 285489
Gene Symbol: DOK7
DOK7 		0.910 CausalMutation disease CLINVAR The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome. 22661499 2012
Entrez Id: 285489
Gene Symbol: DOK7
DOK7 		0.910 GeneticVariation disease UNIPROT The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome. 22661499 2012
Entrez Id: 285489
Gene Symbol: DOK7
DOK7 		0.910 CausalMutation disease CLINVAR Extending the scope of diagnostic chromosome analysis: detection of single gene defects using high-resolution SNP microarrays. 21850686 2011
Entrez Id: 285489
Gene Symbol: DOK7
DOK7 		0.910 CausalMutation disease CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333 2011
Entrez Id: 285489
Gene Symbol: DOK7
DOK7 		0.910 CausalMutation disease CLINVAR Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7. 20458068 2010
Entrez Id: 285489
Gene Symbol: DOK7
DOK7 		0.910 CausalMutation disease CLINVAR Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7. 20012313 2010
Entrez Id: 285489
Gene Symbol: DOK7
DOK7 		0.910 GeneticVariation disease UNIPROT Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7. 20012313 2010
Entrez Id: 285489
Gene Symbol: DOK7
DOK7 		0.910 GeneticVariation disease UNIPROT The cytoplasmic adaptor protein Dok7 activates the receptor tyrosine kinase MuSK via dimerization. 20603078 2010
Entrez Id: 285489
Gene Symbol: DOK7
DOK7 		0.910 CausalMutation disease CLINVAR Congenital stridor with feeding difficulty as a presenting symptom of Dok7 congenital myasthenic syndrome. 20554332 2010
Entrez Id: 285489
Gene Symbol: DOK7
DOK7 		0.910 CausalMutation disease CLINVAR Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations. 19837590 2009
Entrez Id: 285489
Gene Symbol: DOK7
DOK7 		0.910 Biomarker disease GENOMICS_ENGLAND Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients. 18626973 2008
Entrez Id: 285489
Gene Symbol: DOK7
DOK7 		0.910 GeneticVariation disease CLINVAR Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients. 18626973 2008
Entrez Id: 285489
Gene Symbol: DOK7
DOK7 		0.910 CausalMutation disease CLINVAR Mutations causing DOK7 congenital myasthenia ablate functional motifs in Dok-7. 18165682 2008
Entrez Id: 285489
Gene Symbol: DOK7
DOK7 		0.910 CausalMutation disease CLINVAR Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients. 18626973 2008
Entrez Id: 285489
Gene Symbol: DOK7
DOK7 		0.910 GeneticVariation disease UNIPROT Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes. 17439981 2007
Entrez Id: 285489
Gene Symbol: DOK7
DOK7 		0.910 CausalMutation disease CLINVAR Clinical features of the DOK7 neuromuscular junction synaptopathy. 17452375 2007
Entrez Id: 285489
Gene Symbol: DOK7
DOK7 		0.910 Biomarker disease GENOMICS_ENGLAND Dok-7 mutations underlie a neuromuscular junction synaptopathy. 16917026 2006
Entrez Id: 285489
Gene Symbol: DOK7
DOK7 		0.910 GeneticVariation disease UNIPROT Dok-7 mutations underlie a neuromuscular junction synaptopathy. 16917026 2006