Disease: ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057521153
rs1057521153
Entrez Id: 8292
Gene Symbol: COLQ
COLQ
CUI: C1864233
Disease:
ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder) 		0.700 GeneticVariation UNIPROT Clinical and molecular analysis of a novel COLQ missense mutation causing congenital myasthenic syndrome in a Syrian family. 24938146 2014
dbSNP: rs1057521153
rs1057521153
Entrez Id: 8292
Gene Symbol: COLQ
COLQ
CUI: C1864233
Disease:
ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder) 		0.700 GeneticVariation UNIPROT Three novel COLQ mutations and variation of phenotypic expressivity due to G240X. 11865139 2002
dbSNP: rs1057521153
rs1057521153
Entrez Id: 8292
Gene Symbol: COLQ
COLQ
CUI: C1864233
Disease:
ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder) 		0.700 GeneticVariation UNIPROT The spectrum of mutations causing end-plate acetylcholinesterase deficiency. 10665486 2000
dbSNP: rs1057521153
rs1057521153
Entrez Id: 8292
Gene Symbol: COLQ
COLQ
CUI: C1864233
Disease:
ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder) 		0.700 GeneticVariation UNIPROT Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic). 9758617 1998