DOK7, docking protein 7, 285489

N. diseases: 108; N. variants: 35
Disease: Congenital myasthenic syndrome ib ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1850792
Disease: Congenital myasthenic syndrome ib
Congenital myasthenic syndrome ib 		0.910 Biomarker disease GENOMICS_ENGLAND Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder. 30266093 2018
CUI: C1850792
Disease: Congenital myasthenic syndrome ib
Congenital myasthenic syndrome ib 		0.910 CausalMutation disease CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
CUI: C1850792
Disease: Congenital myasthenic syndrome ib
Congenital myasthenic syndrome ib 		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
CUI: C1850792
Disease: Congenital myasthenic syndrome ib
Congenital myasthenic syndrome ib 		0.910 Biomarker disease MGD Neuromuscular disease. DOK7 gene therapy benefits mouse models of diseases characterized by defects in the neuromuscular junction. 25237101 2014
CUI: C1850792
Disease: Congenital myasthenic syndrome ib
Congenital myasthenic syndrome ib 		0.910 CausalMutation disease CLINVAR Neuromuscular disease. DOK7 gene therapy benefits mouse models of diseases characterized by defects in the neuromuscular junction. 25237101 2014
CUI: C1850792
Disease: Congenital myasthenic syndrome ib
Congenital myasthenic syndrome ib 		0.910 CausalMutation disease CLINVAR Salbutamol therapy in congenital myasthenic syndrome due to DOK7 mutation. 23790237 2013
CUI: C1850792
Disease: Congenital myasthenic syndrome ib
Congenital myasthenic syndrome ib 		0.910 CausalMutation disease CLINVAR Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations. 23219351 2013
CUI: C1850792
Disease: Congenital myasthenic syndrome ib
Congenital myasthenic syndrome ib 		0.910 CausalMutation disease CLINVAR The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome. 22661499 2012
CUI: C1850792
Disease: Congenital myasthenic syndrome ib
Congenital myasthenic syndrome ib 		0.910 GeneticVariation disease UNIPROT The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome. 22661499 2012
CUI: C1850792
Disease: Congenital myasthenic syndrome ib
Congenital myasthenic syndrome ib 		0.910 CausalMutation disease CLINVAR Extending the scope of diagnostic chromosome analysis: detection of single gene defects using high-resolution SNP microarrays. 21850686 2011
CUI: C1850792
Disease: Congenital myasthenic syndrome ib
Congenital myasthenic syndrome ib 		0.910 CausalMutation disease CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333 2011
CUI: C1850792
Disease: Congenital myasthenic syndrome ib
Congenital myasthenic syndrome ib 		0.910 CausalMutation disease CLINVAR Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7. 20458068 2010
CUI: C1850792
Disease: Congenital myasthenic syndrome ib
Congenital myasthenic syndrome ib 		0.910 CausalMutation disease CLINVAR Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7. 20012313 2010
CUI: C1850792
Disease: Congenital myasthenic syndrome ib
Congenital myasthenic syndrome ib 		0.910 GeneticVariation disease UNIPROT Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7. 20012313 2010
CUI: C1850792
Disease: Congenital myasthenic syndrome ib
Congenital myasthenic syndrome ib 		0.910 GeneticVariation disease UNIPROT The cytoplasmic adaptor protein Dok7 activates the receptor tyrosine kinase MuSK via dimerization. 20603078 2010
CUI: C1850792
Disease: Congenital myasthenic syndrome ib
Congenital myasthenic syndrome ib 		0.910 CausalMutation disease CLINVAR Congenital stridor with feeding difficulty as a presenting symptom of Dok7 congenital myasthenic syndrome. 20554332 2010
CUI: C1850792
Disease: Congenital myasthenic syndrome ib
Congenital myasthenic syndrome ib 		0.910 CausalMutation disease CLINVAR Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations. 19837590 2009
CUI: C1850792
Disease: Congenital myasthenic syndrome ib
Congenital myasthenic syndrome ib 		0.910 Biomarker disease GENOMICS_ENGLAND Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients. 18626973 2008
CUI: C1850792
Disease: Congenital myasthenic syndrome ib
Congenital myasthenic syndrome ib 		0.910 GeneticVariation disease CLINVAR Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients. 18626973 2008
CUI: C1850792
Disease: Congenital myasthenic syndrome ib
Congenital myasthenic syndrome ib 		0.910 CausalMutation disease CLINVAR Mutations causing DOK7 congenital myasthenia ablate functional motifs in Dok-7. 18165682 2008
CUI: C1850792
Disease: Congenital myasthenic syndrome ib
Congenital myasthenic syndrome ib 		0.910 CausalMutation disease CLINVAR Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients. 18626973 2008
CUI: C1850792
Disease: Congenital myasthenic syndrome ib
Congenital myasthenic syndrome ib 		0.910 GeneticVariation disease UNIPROT Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes. 17439981 2007
CUI: C1850792
Disease: Congenital myasthenic syndrome ib
Congenital myasthenic syndrome ib 		0.910 CausalMutation disease CLINVAR Clinical features of the DOK7 neuromuscular junction synaptopathy. 17452375 2007
CUI: C1850792
Disease: Congenital myasthenic syndrome ib
Congenital myasthenic syndrome ib 		0.910 Biomarker disease GENOMICS_ENGLAND Dok-7 mutations underlie a neuromuscular junction synaptopathy. 16917026 2006
CUI: C1850792
Disease: Congenital myasthenic syndrome ib
Congenital myasthenic syndrome ib 		0.910 GeneticVariation disease UNIPROT Dok-7 mutations underlie a neuromuscular junction synaptopathy. 16917026 2006