CHAT, choline O-acetyltransferase, 1103

N. diseases: 230; N. variants: 39
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
CUI: C0036572
Disease: Seizures
Seizures 		0.410 Biomarker phenotype BEFREE A subset of PPT neurons exhibited reduced firing and hyperpolarization during seizures and stained positive for choline acetyltransferase. 30543800 2019
CUI: C0036572
Disease: Seizures
Seizures 		0.410 Biomarker phenotype CTD_human Our findings suggest that seizures caused cognitive dysfunction and a decrease of ChAT and AChE activities that might be related, at least in part, to the neurological problems presented by seizures induced by pilocarpine. 19941057 2010
CUI: C0036572
Disease: Seizures
Seizures 		0.410 Biomarker phenotype HPO
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.330 Biomarker disease BEFREE While more comprehensive studies are warranted to determine the precise contribution of ChAt mediated mechanisms in schizophrenia, our findings tentatively implicate a genetic influence of ChAt in the disorder's susceptibility and treatment. 17503482 2007
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.330 Biomarker disease PSYGENET While more comprehensive studies are warranted to determine the precise contribution of ChAt mediated mechanisms in schizophrenia, our findings tentatively implicate a genetic influence of ChAt in the disorder's susceptibility and treatment. 17503482 2007
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.330 Biomarker disease BEFREE In a previous postmortem study, we found a reduction in the density of striatal interneurons that stain immunohistochemically for choline acetyltransferase (ChAT) in schizophrenia. 16023618 2005
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.330 Biomarker disease PSYGENET In a previous postmortem study, we found a reduction in the density of striatal interneurons that stain immunohistochemically for choline acetyltransferase (ChAT) in schizophrenia. 16023618 2005
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.330 Biomarker disease BEFREE In addition, abnormalities of ChAT in the brain have been recently demonstrated in schizophrenia and sudden infant death syndrome. 10594838 1999
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma 		0.320 GeneticVariation disease BEFREE Genotype data of the 8 PACG single-nucleotide polymorphisms (SNPs) (rs11024102 at PLEKHA7, rs3753841 at COL11A1, rs1015213 located between PCMTD1 and ST18 on Chromosome 8q, rs3816415 at EPDR1, rs1258267 at CHAT, rs736893 at GLIS3, rs7494379 at FERMT2, and rs3739821 mapping in between DPM2 and FAM102A) were available. 31377279 2019
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma 		0.320 GeneticVariation disease BEFREE The SNP rs3753841 in COL11A1, rs1258267 in CHAT and rs736893 in GLIS3 are associated with PACG in northern Chinese people, and the association of genetic markers manifests a tendency of ethnic diversity. 30399154 2018
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma 		0.320 Biomarker disease CTD_human Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma. 27064256 2016
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.320 Biomarker disease PSYGENET While our data therefore do not seem to support a major role for CHAT genetic variation in geriatric depression and AD, there might be a minor contribution in geriatric patients with depression and late onset AD, in particular those carrying the APOEε4 genotype. 21507424 2011
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.320 GeneticVariation disease BEFREE While our data therefore do not seem to support a major role for CHAT genetic variation in geriatric depression and AD, there might be a minor contribution in geriatric patients with depression and late onset AD, in particular those carrying the APOEε4 genotype. 21507424 2011