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: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.300 AlteredExpression disease BEFREE Levels of pentamers in the soluble fraction significantly correlated with a reduction in choline acetyltransferase activity in AD patients. 21683475 2012
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.300 GeneticVariation disease BEFREE Additionally, the gene choline O-acetyltransferase (CHAT) located on chromosome 10 was discussed for conveying risk towards AD, but the results are ambiguous. 21507424 2011
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.300 GeneticVariation disease BEFREE The ChAT rs3810950 A allele, which has been associated with increased risk for AD, was found to be associated with a decrease cognitive status evaluated by a five-component cognitive composite score [P = 0.03, regression coefficient -0.30, 95% confidence interval (CI) -0.57 to -0.02], and the rs3810950 and rs8178990 ancestral GC haplotype was also associated with better cross-sectional cognitive composite score (P = 0.04, regression coefficient 0.59, 95% CI 0.03 to 1.16). 21883924 2011
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.300 AlteredExpression disease BEFREE ChAT enzyme activity levels decreased significantly in the hippocampus of middle-aged 3xTg-AD mice compared to age-matched non-transgenic (or wild type) mice. 20937383 2011
CUI: C0022333
Disease: Jacksonian Seizure
Jacksonian Seizure 		0.300 Biomarker disease CTD_human Pilocarpine-induced seizures produce alterations on choline acetyltransferase and acetylcholinesterase activities and deficit memory in rats. 19941057 2010
CUI: C0149958
Disease: Complex partial seizures
Complex partial seizures 		0.300 Biomarker disease CTD_human Pilocarpine-induced seizures produce alterations on choline acetyltransferase and acetylcholinesterase activities and deficit memory in rats. 19941057 2010
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		0.300 Biomarker disease CTD_human Pilocarpine-induced seizures produce alterations on choline acetyltransferase and acetylcholinesterase activities and deficit memory in rats. 19941057 2010
CUI: C0234535
Disease: Clonic Seizures
Clonic Seizures 		0.300 Biomarker disease CTD_human Pilocarpine-induced seizures produce alterations on choline acetyltransferase and acetylcholinesterase activities and deficit memory in rats. 19941057 2010
CUI: C0270824
Disease: Visual seizure
Visual seizure 		0.300 Biomarker disease CTD_human Pilocarpine-induced seizures produce alterations on choline acetyltransferase and acetylcholinesterase activities and deficit memory in rats. 19941057 2010
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures 		0.300 Biomarker phenotype CTD_human Pilocarpine-induced seizures produce alterations on choline acetyltransferase and acetylcholinesterase activities and deficit memory in rats. 19941057 2010
CUI: C0270846
Disease: Epileptic drop attack
Epileptic drop attack 		0.300 Biomarker disease CTD_human Pilocarpine-induced seizures produce alterations on choline acetyltransferase and acetylcholinesterase activities and deficit memory in rats. 19941057 2010
CUI: C0422850
Disease: Seizures, Somatosensory
Seizures, Somatosensory 		0.300 Biomarker phenotype CTD_human Pilocarpine-induced seizures produce alterations on choline acetyltransferase and acetylcholinesterase activities and deficit memory in rats. 19941057 2010
CUI: C0422852
Disease: Seizures, Auditory
Seizures, Auditory 		0.300 Biomarker phenotype CTD_human Pilocarpine-induced seizures produce alterations on choline acetyltransferase and acetylcholinesterase activities and deficit memory in rats. 19941057 2010
CUI: C0422853
Disease: Olfactory seizure
Olfactory seizure 		0.300 Biomarker phenotype CTD_human Pilocarpine-induced seizures produce alterations on choline acetyltransferase and acetylcholinesterase activities and deficit memory in rats. 19941057 2010
CUI: C0422854
Disease: Gustatory seizure
Gustatory seizure 		0.300 Biomarker phenotype CTD_human Pilocarpine-induced seizures produce alterations on choline acetyltransferase and acetylcholinesterase activities and deficit memory in rats. 19941057 2010
CUI: C0422855
Disease: Vertiginous seizure
Vertiginous seizure 		0.300 Biomarker phenotype CTD_human Pilocarpine-induced seizures produce alterations on choline acetyltransferase and acetylcholinesterase activities and deficit memory in rats. 19941057 2010
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		0.300 Biomarker disease CTD_human Pilocarpine-induced seizures produce alterations on choline acetyltransferase and acetylcholinesterase activities and deficit memory in rats. 19941057 2010
CUI: C0751056
Disease: Non-epileptic convulsion
Non-epileptic convulsion 		0.300 Biomarker phenotype CTD_human Pilocarpine-induced seizures produce alterations on choline acetyltransferase and acetylcholinesterase activities and deficit memory in rats. 19941057 2010
CUI: C0751110
Disease: Single Seizure
Single Seizure 		0.300 Biomarker disease CTD_human Pilocarpine-induced seizures produce alterations on choline acetyltransferase and acetylcholinesterase activities and deficit memory in rats. 19941057 2010
CUI: C0751123
Disease: Atonic Absence Seizures
Atonic Absence Seizures 		0.300 Biomarker phenotype CTD_human Pilocarpine-induced seizures produce alterations on choline acetyltransferase and acetylcholinesterase activities and deficit memory in rats. 19941057 2010
CUI: C0751494
Disease: Convulsive Seizures
Convulsive Seizures 		0.300 Biomarker phenotype CTD_human Pilocarpine-induced seizures produce alterations on choline acetyltransferase and acetylcholinesterase activities and deficit memory in rats. 19941057 2010
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		0.300 Biomarker phenotype CTD_human Pilocarpine-induced seizures produce alterations on choline acetyltransferase and acetylcholinesterase activities and deficit memory in rats. 19941057 2010
CUI: C0751496
Disease: Seizures, Sensory
Seizures, Sensory 		0.300 Biomarker phenotype CTD_human Pilocarpine-induced seizures produce alterations on choline acetyltransferase and acetylcholinesterase activities and deficit memory in rats. 19941057 2010
CUI: C3495874
Disease: Nonepileptic Seizures
Nonepileptic Seizures 		0.300 Biomarker phenotype CTD_human Pilocarpine-induced seizures produce alterations on choline acetyltransferase and acetylcholinesterase activities and deficit memory in rats. 19941057 2010
CUI: C4048158
Disease: Convulsions
Convulsions 		0.300 Biomarker phenotype CTD_human Pilocarpine-induced seizures produce alterations on choline acetyltransferase and acetylcholinesterase activities and deficit memory in rats. 19941057 2010