CHAT, choline O-acetyltransferase, 1103

N. diseases: 230; N. variants: 39
Disease: Familial infantile myasthenia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0393929
Disease: Familial infantile myasthenia
Familial infantile myasthenia 		0.910 GeneticVariation disease CLINVAR A rapid gene sequencing panel strategy to facilitate precision neonatal medicine. 28497657 2017
CUI: C0393929
Disease: Familial infantile myasthenia
Familial infantile myasthenia 		0.910 GeneticVariation disease CLINVAR Choline Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype-Phenotype Correlations. 26080897 2015
CUI: C0393929
Disease: Familial infantile myasthenia
Familial infantile myasthenia 		0.910 GeneticVariation disease CLINVAR Functional consequences and structural interpretation of mutations of human choline acetyltransferase. 21786365 2011
CUI: C0393929
Disease: Familial infantile myasthenia
Familial infantile myasthenia 		0.910 GeneticVariation disease BEFREE Clinical variability of CMS-EA (congenital myasthenic syndrome with episodic apnea) due to identical CHAT mutations in two infants. 15701560 2005
CUI: C0393929
Disease: Familial infantile myasthenia
Familial infantile myasthenia 		0.910 Biomarker disease GENOMICS_ENGLAND Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation. 12756141 2003
CUI: C0393929
Disease: Familial infantile myasthenia
Familial infantile myasthenia 		0.910 GeneticVariation disease UNIPROT Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation. 12756141 2003
CUI: C0393929
Disease: Familial infantile myasthenia
Familial infantile myasthenia 		0.910 Biomarker disease MGD Aberrant patterning of neuromuscular synapses in choline acetyltransferase-deficient mice. 12533614 2003
CUI: C0393929
Disease: Familial infantile myasthenia
Familial infantile myasthenia 		0.910 Biomarker disease MGD Roles of neurotransmitter in synapse formation: development of neuromuscular junctions lacking choline acetyltransferase. 12441053 2002
CUI: C0393929
Disease: Familial infantile myasthenia
Familial infantile myasthenia 		0.910 Biomarker disease GENOMICS_ENGLAND Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans. 11172068 2001
CUI: C0393929
Disease: Familial infantile myasthenia
Familial infantile myasthenia 		0.910 GeneticVariation disease UNIPROT Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans. 11172068 2001
CUI: C0393929
Disease: Familial infantile myasthenia
Familial infantile myasthenia 		0.910 CausalMutation disease CLINVAR
CUI: C0393929
Disease: Familial infantile myasthenia
Familial infantile myasthenia 		0.910 Biomarker disease CTD_human