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: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.300 Biomarker group CTD_human Resveratrol mitigates rat retinal ischemic injury: the roles of matrix metalloproteinase-9, inducible nitric oxide, and heme oxygenase-1. 23075401 2013
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders
0.100 Biomarker group HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.100 Biomarker group HPO
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
0.030 Biomarker group BEFREE Choline acetyltransferase-positive (ChAT<sup>+</sup>) neurons within the subventricular zone (SVZ) have been shown to promote neurogenesis after stroke in mice by secreting acetylcholine (ACh); however, the mechanisms remain unclear. 28551702 2017
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
0.030 Biomarker group BEFREE We conclude that ChAT<sup>+</sup> neurons in the SVZ may participate in stroke-induced neurogenesis, suggesting a new mechanism for neurogenesis after stroke. 27609645 2017
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
0.030 Biomarker group BEFREE This study focused on cholinergic, choline acetyltransferase (ChAT)-immunopositive, and tyrosine hydroxylase (TH)-containing neurons in association with the vasculature to explore the neurovascular complex of the AD brain affected by stroke. 28671120 2017
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.020 AlteredExpression group BEFREE Furthermore, the density of the cholinergic fibers at the surface of the longitudinal muscle was significantly reduced (DM: 24 ± 3%; p = 0.003, control: 41 ± 2%); however, western-blot analysis did not indicate a reduction in the expression of choline acetyltransferase (ChAT) in the DM group. 30500400 2019
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.020 Biomarker group BEFREE (iii) The numbers of nNOS, CHAT neurons and total neurons in proximal and distal colon were decreased significantly during the course of diabetes (P < 0.05). 19709371 2009
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases
0.020 GeneticVariation group BEFREE Choline acetyltransferase (ChAT) synthesizes the neurotransmitter acetylcholine in cholinergic neurons, and mutations of this enzyme are linked to the neuromuscular disorder congenital myasthenic syndrome (CMS). 29311808 2017
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases
0.020 GeneticVariation group BEFREE Decreases in ChAT activity are associated with a number of disease states, and mutations in ChAT cause congenital neuromuscular disorders. 15131697 2004
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.010 GeneticVariation group BEFREE This presentation focuses on the CMS caused by defects in choline acetyltransferase, novel fast-channel syndromes that hinder isomerization of the acetylcholine receptor from the closed to the open state, the consequences of deleterious mutations in the intermediate filament linker plectin, altered neuromuscular transmission in a centronuclear myopathy, and two recently identified CMS caused by congenital defects in glycosylation. 23278578 2012
CUI: C0004936
Disease: Mental disorders
Mental disorders
0.010 GeneticVariation group BEFREE Our results demonstrated that sequence variants of CHAT were associated with human cognitive ability in not only patients with psychiatric disorders but also normal healthy individuals. 26854842 2016
CUI: C0004941
Disease: Behavioral Symptoms
Behavioral Symptoms
0.010 AlteredExpression group BEFREE Finally, we tested the hypothesis that time-of-day differences in acetylcholinesterase and choline acetyltransferase expression and general neuronal activation (i.e., c-Fos expression) coincide with the behavioral symptoms. 21709248 2011
CUI: C0007682
Disease: CNS disorder
CNS disorder
0.010 Biomarker group BEFREE Since ChAT::Cre+ rats, used increasingly for understanding the biological basis of CNS disorders, utilize the mouse ChAT promotor to control Cre recombinase expression, we assessed for similar genotypical and phenotypical differences in such rats compared to wild-type siblings. 31506825 2019
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders
0.010 Biomarker group BEFREE Furthermore, these mice exhibited the impairment of long-term potentiation in hippocampal CA1 region, and the reduction of hippocampal adenosine-triphosphate content and of choline acetyltransferase-positive neurons in basal forebrain, possibly as pathogenetic factors contributing to the cognitive deficit. 21824606 2011
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms
0.010 AlteredExpression group BEFREE Compared with the expression in the normal lung tissues, the mRNA and protein expression of ChAT and ChoK increased in nine and 14 of the 18 lung tumors, respectively. 25591716 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 AlteredExpression group BEFREE We also detected high levels of choline acetyltransferase in these tumors, which suggests a common neural origin. 3390826 1988
CUI: C0220810
Disease: Congenital defects
Congenital defects
0.010 GeneticVariation group BEFREE This presentation focuses on the CMS caused by defects in choline acetyltransferase, novel fast-channel syndromes that hinder isomerization of the acetylcholine receptor from the closed to the open state, the consequences of deleterious mutations in the intermediate filament linker plectin, altered neuromuscular transmission in a centronuclear myopathy, and two recently identified CMS caused by congenital defects in glycosylation. 23278578 2012
CUI: C0221163
Disease: Motor Disorders
Motor Disorders
0.010 GeneticVariation group BEFREE Choline acetyltransferase structure reveals distribution of mutations that cause motor disorders. 15131697 2004
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.010 Biomarker group LHGDN Increased ChAT activity was found in CM nuclei in DLB + P compared with DLB - P. These findings show that significant thalamic presynaptic cholinergic deficits occur only in cases of combined cortical and subcortical neurodegeneration in which dementia developed after prolonged parkinsonism. 15913843 2006
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder
0.010 Biomarker group BEFREE Brief Report: Evaluation of the Short Quantitative Checklist for Autism in Toddlers (Q-CHAT-10) as a Brief Screen for Autism Spectrum Disorder in a High-Risk Sibling Cohort. 30694516 2019
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.010 Biomarker group BEFREE Choline acetyltransferase (ChAT) is the key enzyme responsible for the synthesis of the neurotransmitter acetylcholine and is reduced in various central neurodegenerative diseases. 7682855 1993
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 HPO
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