NAT8L, N-acetyltransferase 8 like, 339983

N. diseases: 32; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3279716
Disease: N-ACETYLASPARTATE DEFICIENCY
N-ACETYLASPARTATE DEFICIENCY 		0.300 Biomarker disease GENOMICS_ENGLAND Molecular identification of aspartate N-acetyltransferase and its mutation in hypoacetylaspartia. 19807691 2009
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		0.100 Biomarker phenotype HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0038271
Disease: Stereotyped Behavior
Stereotyped Behavior 		0.100 Biomarker disease HPO
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		0.100 Biomarker phenotype HPO
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		0.100 Biomarker phenotype HPO
CUI: C0262630
Disease: Reduced concentration span
Reduced concentration span 		0.100 Biomarker phenotype HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker phenotype HPO
CUI: C0427190
Disease: Ataxia, Truncal
Ataxia, Truncal 		0.100 Biomarker phenotype HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C1262477
Disease: Weight decreased
Weight decreased 		0.100 Biomarker phenotype HPO
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.100 Biomarker phenotype HPO
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		0.020 Biomarker group BEFREE We previously identified Shati/Nat8l, an N-acetyltransferase, in the brain using an animal model of psychosis. 31520691 2019
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		0.020 Biomarker disease BEFREE In this study, we revealed the involvement of Shati/Nat8l in the vulnerability to major depression. 31520691 2019
CUI: C0349204
Disease: Nonorganic psychosis
Nonorganic psychosis 		0.020 Biomarker disease BEFREE We previously identified Shati/Nat8l, an N-acetyltransferase, in the brain using an animal model of psychosis. 31520691 2019
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.020 Biomarker disease BEFREE In this study, we revealed the involvement of Shati/Nat8l in the vulnerability to major depression. 31520691 2019
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		0.020 Biomarker group BEFREE We have previously identified Shati/Nat8l, an N-acetyltransferase, in the brain using an animal model of psychosis. 29020418 2017
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		0.020 AlteredExpression disease BEFREE Our findings indicate that the striatal expression of N-acetylaspartate synthetase Shati/Nat8l plays a role in major depressive disorder via the metabotropic glutamate receptor 3-mediated functional control of the serotonergic neuronal system. 29020418 2017
CUI: C0349204
Disease: Nonorganic psychosis
Nonorganic psychosis 		0.020 Biomarker disease BEFREE We have previously identified Shati/Nat8l, an N-acetyltransferase, in the brain using an animal model of psychosis. 29020418 2017
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.020 AlteredExpression disease BEFREE Our findings indicate that the striatal expression of N-acetylaspartate synthetase Shati/Nat8l plays a role in major depressive disorder via the metabotropic glutamate receptor 3-mediated functional control of the serotonergic neuronal system. 29020418 2017
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.010 Biomarker disease BEFREE Taken together, Shati/Nat8l in the striatum has an important role in the vulnerability to depression onsets by regulating the origin of serotonergic neuronal system via GABAergic projection neuron in the dorsal raphe from the dorsal striatum. 31520691 2019
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.010 Biomarker disease BEFREE Taken together, Shati/Nat8l in the striatum has an important role in the vulnerability to depression onsets by regulating the origin of serotonergic neuronal system via GABAergic projection neuron in the dorsal raphe from the dorsal striatum. 31520691 2019