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: C0740391
Disease: Middle Cerebral Artery Occlusion
Middle Cerebral Artery Occlusion
0.020 GeneticVariation disease BEFREE We established human neural stem cells (NSCs) encoding gene of choline acetyltransferase (F3.ChAT), an acetylcholine-synthesizing enzyme, and investigated whether infusion of the F3.ChAT cells attenuate the ischemia-reperfusion brain damage in a rat model of middle cerebral artery occlusion (MCAO). 31837389 2020
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.300 Biomarker disease BEFREE Protein concentrations and activities of ChAT and AChE were measured in CSF of 18 patients with mild AD prior to and after 3 months of treatment with galantamine (<i>n</i> = 12) or placebo (<i>n</i> = 6), followed by nine additional months of galantamine treatment in all patients. 31680850 2019
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.010 AlteredExpression disease BEFREE Data from the Repository for Molecular Brain Neoplasia Data (REMBRANDT) dataset also showed the co-expression of choline transporters, choline acetyltransferase, and vesicular acetylcholine transporters, suggesting that GBMs express all the proteins required for ACh synthesis and release. 31590360 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.070 Biomarker disease BEFREE In this "real-world" cohort that was systematically followed, the M-CHAT/F was less accurate in detecting ASD than in previous studies. 31562252 2019
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.020 GeneticVariation phenotype BEFREE However, it was recently reported that transgenic mice overexpressing a bacterial artificial chromosome containing choline acetyltransferase (ChAT) gene, for synthesizing the neurotransmitter acetylcholine, present with multiple vesicular acetylcholine transporter (VAChT) gene copies, resulting in altered cholinergic tone and accompanying behavioral abnormalities. 31506825 2019
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: 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: C0017606
Disease: Primary angle-closure glaucoma
Primary angle-closure glaucoma
0.020 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: C0265493
Disease: Cat eye syndrome
Cat eye syndrome
0.010 AlteredExpression disease BEFREE (3) CES significantly upregulated the expression of CHAT, nNOS and TH protein in colon of PD rats. 31220524 2019
CUI: C3887938
Disease: Deuteranomaly
Deuteranomaly
0.010 AlteredExpression disease BEFREE ChAT protein expression was reduced in the HPC of male poly I:C offspring, while CBD treated poly I:C offspring exhibited control-like ChAT levels. 31108177 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.070 AlteredExpression disease BEFREE The ML method was comparable to the M-CHAT-R with follow-up items in accuracy of ASD diagnosis while using fewer items. 30985384 2019
CUI: C0152020
Disease: Gastroparesis
Gastroparesis
0.010 Biomarker disease BEFREE In the present study, using a double-labeling immunofluorescence technique combined with confocal microscopy, we significantly extend our understanding of the SN-LH-DMV pathway by showing that (1) a considerable quantity of dopamine receptor 1 and 2 (D1 and D2) was expressed in the LH as well as the OX1R was expressed in the DMV; (2) Nearly all of the D1-immuoreactve (IR) neurons were also OXA-positive while only a few neurons express both D2 and OXA in the LH, and the DR-positive neurons were surrounded by the dopaminergic neural fibers; In the DMV, OX1R were colocalized with choline acetyltransferase (ChAT)-labeled motor neurons; (3) When the gastroparesis was induced by the destruction of dopaminergic neurons in the SN, the decreased expression of D1 and OXA was observed in the LH as well as the reduced OX1R and ChAT expression in the DMV. 30923496 2019
CUI: C0003578
Disease: Apnea
Apnea
0.180 GeneticVariation phenotype BEFREE Mutations in <i>CHAT</i>, encoding choline acetyltransferase, cause congenital myasthenic syndrome with episodic apnea (CMS-EA), a rare autosomal recessive disease characterized by respiratory insufficiency with cyanosis and apnea after infections, fever, vomiting, or excitement. 30914958 2019
CUI: C0010520
Disease: Cyanosis
Cyanosis
0.110 GeneticVariation phenotype BEFREE Mutations in <i>CHAT</i>, encoding choline acetyltransferase, cause congenital myasthenic syndrome with episodic apnea (CMS-EA), a rare autosomal recessive disease characterized by respiratory insufficiency with cyanosis and apnea after infections, fever, vomiting, or excitement. 30914958 2019
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure
0.030 GeneticVariation disease BEFREE Mutations in <i>CHAT</i>, encoding choline acetyltransferase, cause congenital myasthenic syndrome with episodic apnea (CMS-EA), a rare autosomal recessive disease characterized by respiratory insufficiency with cyanosis and apnea after infections, fever, vomiting, or excitement. 30914958 2019
CUI: C1963788
Disease: Peripheral nerve lesion
Peripheral nerve lesion
0.010 AlteredExpression disease BEFREE Muscle ciliary neurotrophic factor receptor α helps maintain choline acetyltransferase levels in denervated motor neurons following peripheral nerve lesion. 30902524 2019
CUI: C0024266
Disease: Lymphocytic Choriomeningitis
Lymphocytic Choriomeningitis
0.010 Biomarker disease BEFREE Here, we show that the enzyme choline acetyltransferase (ChAT), which catalyzes the rate-limiting step of ACh production, is robustly induced in both CD4<sup>+</sup> and CD8<sup>+</sup> T cells during lymphocytic choriomeningitis virus (LCMV) infection in an IL-21-dependent manner. 30733420 2019
Non-arthropod borne lymphocytic choriomeningitis
0.010 Biomarker disease BEFREE Here, we show that the enzyme choline acetyltransferase (ChAT), which catalyzes the rate-limiting step of ACh production, is robustly induced in both CD4<sup>+</sup> and CD8<sup>+</sup> T cells during lymphocytic choriomeningitis virus (LCMV) infection in an IL-21-dependent manner. 30733420 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.070 Biomarker disease 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: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.020 GeneticVariation disease 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: 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: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.070 Biomarker disease BEFREE The associations among M-CHAT-R/F-T scores, developmental performance at 24 and 30 months, and ASD diagnosis prediction at 36 months were examined. 30579261 2019
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
0.010 AlteredExpression disease BEFREE The treatment rats also had higher SDNN, SDANN, RMSSD and SDNNindx, lower LF/HF ratio, decreased TH expression and increased CHAT expression (p < 0.05 compared to the AF group). 30575932 2018
CUI: C0233794
Disease: Memory impairment
Memory impairment
0.050 GeneticVariation phenotype BEFREE These indicate that EE has an important effect on the improvement of working memory impairment and the underlying mechanism may involve in histones H3 acetylation at ChAT gene promoter regions in the prefrontal cortex. 30568864 2018
CUI: C0542476
Disease: Forgetful
Forgetful
0.020 GeneticVariation phenotype BEFREE These indicate that EE has an important effect on the improvement of working memory impairment and the underlying mechanism may involve in histones H3 acetylation at ChAT gene promoter regions in the prefrontal cortex. 30568864 2018