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: rs758131044
rs758131044
Entrez Id: 285489;105374355
Gene Symbol: DOK7;LOC105374355
DOK7;LOC105374355
CUI: C1850792
Disease:
Congenital myasthenic syndrome ib 		A 0.800 CausalMutation CLINVAR The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome. 22661499 2012
dbSNP: rs758131044
rs758131044
Entrez Id: 285489;105374355
Gene Symbol: DOK7;LOC105374355
DOK7;LOC105374355
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: rs758131044
rs758131044
Entrez Id: 285489;105374355
Gene Symbol: DOK7;LOC105374355
DOK7;LOC105374355
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: rs758131044
rs758131044
Entrez Id: 285489;105374355
Gene Symbol: DOK7;LOC105374355
DOK7;LOC105374355
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 Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes. 17439981 2007
dbSNP: rs758131044
rs758131044
Entrez Id: 285489;105374355
Gene Symbol: DOK7;LOC105374355
DOK7;LOC105374355
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: rs758131044
rs758131044
Entrez Id: 285489;105374355
Gene Symbol: DOK7;LOC105374355
DOK7;LOC105374355
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
dbSNP: rs761899995
rs761899995
Entrez Id: 285489
Gene Symbol: DOK7
DOK7
CUI: C1850792
Disease:
Congenital myasthenic syndrome ib 		CG 0.700 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
dbSNP: rs797045040
rs797045040
Entrez Id: 285489
Gene Symbol: DOK7
DOK7
CUI: C1850792
Disease:
Congenital myasthenic syndrome ib 		GTCCAGTCTGT 0.700 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
dbSNP: rs1560224831
rs1560224831
Entrez Id: 285489
Gene Symbol: DOK7
DOK7
CUI: C1850792
Disease:
Congenital myasthenic syndrome ib 		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: rs606231128
rs606231128
Entrez Id: 285489
Gene Symbol: DOK7
DOK7
CUI: C1850792
Disease:
Congenital myasthenic syndrome ib 		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
Entrez Id: 285489
Gene Symbol: DOK7
DOK7
CUI: C1850792
Disease:
Congenital myasthenic syndrome ib 		AGCCT 0.700 CausalMutation CLINVAR Salbutamol therapy in congenital myasthenic syndrome due to DOK7 mutation. 23790237 2013
dbSNP: rs606231128
rs606231128
Entrez Id: 285489
Gene Symbol: DOK7
DOK7
CUI: C1850792
Disease:
Congenital myasthenic syndrome ib 		AGCCT 0.700 CausalMutation CLINVAR Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations. 23219351 2013
dbSNP: rs1286619522
rs1286619522
Entrez Id: 285489;105374355
Gene Symbol: DOK7;LOC105374355
DOK7;LOC105374355
CUI: C1850792
Disease:
Congenital myasthenic syndrome ib 		0.700 GeneticVariation UNIPROT The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome. 22661499 2012
dbSNP: rs1429428597
rs1429428597
Entrez Id: 285489;105374355
Gene Symbol: DOK7;LOC105374355
DOK7;LOC105374355
CUI: C1850792
Disease:
Congenital myasthenic syndrome ib 		0.700 GeneticVariation UNIPROT The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome. 22661499 2012
dbSNP: rs1560224831
rs1560224831
Entrez Id: 285489
Gene Symbol: DOK7
DOK7
CUI: C1850792
Disease:
Congenital myasthenic syndrome ib 		CCTCT 0.700 CausalMutation CLINVAR The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome. 22661499 2012
dbSNP: rs571769859
rs571769859
Entrez Id: 285489;105374355
Gene Symbol: DOK7;LOC105374355
DOK7;LOC105374355
CUI: C1850792
Disease:
Congenital myasthenic syndrome ib 		0.700 GeneticVariation UNIPROT The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome. 22661499 2012
dbSNP: rs606231128
rs606231128
Entrez Id: 285489
Gene Symbol: DOK7
DOK7
CUI: C1850792
Disease:
Congenital myasthenic syndrome ib 		AGCCT 0.700 CausalMutation CLINVAR The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome. 22661499 2012
dbSNP: rs606231129
rs606231129
Entrez Id: 285489
Gene Symbol: DOK7
DOK7
CUI: C1850792
Disease:
Congenital myasthenic syndrome ib 		GC 0.700 CausalMutation CLINVAR The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome. 22661499 2012
dbSNP: rs606231131
rs606231131
Entrez Id: 285489
Gene Symbol: DOK7
DOK7
CUI: C1850792
Disease:
Congenital myasthenic syndrome ib 		TCTGG 0.700 CausalMutation CLINVAR The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome. 22661499 2012