DOK7, docking protein 7, 285489

N. diseases: 108; N. variants: 35
Disease: Myasthenias ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0947912
Disease: Myasthenias
Myasthenias 		0.140 Biomarker disease BEFREE Here, we show in a mouse model of DOK7 myasthenia that therapeutic administration of an adeno-associated virus (AAV) vector encoding the human DOK7 gene resulted in an enlargement of NMJs and substantial increases in muscle strength and life span. 25237101 2014
CUI: C0947912
Disease: Myasthenias
Myasthenias 		0.140 Biomarker disease BEFREE We used albuterol, another sympathomimetic agent, to treat 3 patients with EP AChE deficiency and 15 with Dok-7 myasthenia. 21952943 2011
CUI: C0947912
Disease: Myasthenias
Myasthenias 		0.140 GeneticVariation disease BEFREE DOK7 mutations should be considered in patients with early-onset myopathy, even in the absence of symptoms suggesting a possible myasthenia. 20610155 2010
CUI: C0947912
Disease: Myasthenias
Myasthenias 		0.140 Biomarker disease BEFREE Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients. 18626973 2008
CUI: C0947912
Disease: Myasthenias
Myasthenias 		0.140 Biomarker disease HPO