CHAT, choline O-acetyltransferase, 1103

N. diseases: 230; N. variants: 39
Disease: Myasthenic Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0549225
Disease: Myasthenic Syndrome
Myasthenic Syndrome 		0.020 GeneticVariation disease BEFREE Choline acetyltransferase mutations in myasthenic syndrome due to deficient acetylcholine resynthesis. 12548525 2003
CUI: C0549225
Disease: Myasthenic Syndrome
Myasthenic Syndrome 		0.020 GeneticVariation disease BEFREE Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans. 11172068 2001