Familial infantile myasthenia
|
0.910 |
GeneticVariation
|
disease |
CLINVAR |
Functional consequences and structural interpretation of mutations of human choline acetyltransferase.
|
21786365 |
2011 |
Familial infantile myasthenia
|
0.910 |
GeneticVariation
|
disease |
CLINVAR |
Choline Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype-Phenotype Correlations.
|
26080897 |
2015 |
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 |
Familial infantile myasthenia
|
0.910 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans.
|
11172068 |
2001 |
Familial infantile myasthenia
|
0.910 |
GeneticVariation
|
disease |
UNIPROT |
Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation.
|
12756141 |
2003 |
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 |
Familial infantile myasthenia
|
0.910 |
GeneticVariation
|
disease |
UNIPROT |
Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans.
|
11172068 |
2001 |
Familial infantile myasthenia
|
0.910 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Familial infantile myasthenia
|
0.910 |
Biomarker
|
disease |
MGD |
Roles of neurotransmitter in synapse formation: development of neuromuscular junctions lacking choline acetyltransferase.
|
12441053 |
2002 |
Familial infantile myasthenia
|
0.910 |
Biomarker
|
disease |
MGD |
Aberrant patterning of neuromuscular synapses in choline acetyltransferase-deficient mice.
|
12533614 |
2003 |
Familial infantile myasthenia
|
0.910 |
Biomarker
|
disease |
CTD_human |
|
|
|
Familial infantile myasthenia
|
0.910 |
GeneticVariation
|
disease |
CLINVAR |
A rapid gene sequencing panel strategy to facilitate precision neonatal medicine.
|
28497657 |
2017 |
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 |
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 |
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 |
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 |
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 |
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 |
Mental Depression
|
0.320 |
GeneticVariation
|
disease |
BEFREE |
Moreover, the ChAT polymorphism associated significant to depression.
|
18603262 |
2009 |
Mental Depression
|
0.320 |
Biomarker
|
disease |
PSYGENET |
Moreover, the ChAT polymorphism associated significant to depression.
|
18603262 |
2009 |
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 |
Depressive disorder
|
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 |
Depressive disorder
|
0.320 |
GeneticVariation
|
disease |
BEFREE |
Moreover, the ChAT polymorphism associated significant to depression.
|
18603262 |
2009 |
Depressive disorder
|
0.320 |
Biomarker
|
disease |
PSYGENET |
Moreover, the ChAT polymorphism associated significant to depression.
|
18603262 |
2009 |
Depressive disorder
|
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 |