DOK7, docking protein 7, 285489

N. diseases: 108; N. variants: 35
Disease: Congenital myasthenic syndrome ib ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118203994
rs118203994
Entrez Id: 285489
Gene Symbol: DOK7
DOK7
CUI: C1850792
Disease:
Congenital myasthenic syndrome ib 		0.800 GeneticVariation UNIPROT The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome. 22661499 2012
dbSNP: rs118203994
rs118203994
Entrez Id: 285489
Gene Symbol: DOK7
DOK7
CUI: C1850792
Disease:
Congenital myasthenic syndrome ib 		0.800 GeneticVariation UNIPROT Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7. 20012313 2010
dbSNP: rs118203994
rs118203994
Entrez Id: 285489
Gene Symbol: DOK7
DOK7
CUI: C1850792
Disease:
Congenital myasthenic syndrome ib 		0.800 GeneticVariation UNIPROT The cytoplasmic adaptor protein Dok7 activates the receptor tyrosine kinase MuSK via dimerization. 20603078 2010
dbSNP: rs118203994
rs118203994
Entrez Id: 285489
Gene Symbol: DOK7
DOK7
CUI: C1850792
Disease:
Congenital myasthenic syndrome ib 		0.800 GeneticVariation UNIPROT Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes. 17439981 2007
dbSNP: rs118203994
rs118203994
Entrez Id: 285489
Gene Symbol: DOK7
DOK7
CUI: C1850792
Disease:
Congenital myasthenic syndrome ib 		0.800 GeneticVariation UNIPROT Dok-7 mutations underlie a neuromuscular junction synaptopathy. 16917026 2006
dbSNP: rs118203994
rs118203994
Entrez Id: 285489
Gene Symbol: DOK7
DOK7
CUI: C1850792
Disease:
Congenital myasthenic syndrome ib 		C 0.800 CausalMutation CLINVAR