MAOA, monoamine oxidase A, 4128

N. diseases: 300; N. variants: 15
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0796275
Disease: Brunner Syndrome
Brunner Syndrome 		0.910 Biomarker disease GENOMICS_ENGLAND New insights into Brunner syndrome and potential for targeted therapy. 25807999 2016
CUI: C0796275
Disease: Brunner Syndrome
Brunner Syndrome 		0.910 Biomarker disease GENOMICS_ENGLAND The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders. 27830117 2016
CUI: C0796275
Disease: Brunner Syndrome
Brunner Syndrome 		0.910 Biomarker disease GENOMICS_ENGLAND It is the case of the X-linked gene encoding monoamine oxidase A (MAOA), for which only one nonsense mutation has been identified in Brunner syndrome, characterized in a single family by mild non-dysmorphic ID and impulsive, violent and aggressive behaviors. 24169519 2014
CUI: C0796275
Disease: Brunner Syndrome
Brunner Syndrome 		0.910 GeneticVariation disease BEFREE It is the case of the X-linked gene encoding monoamine oxidase A (MAOA), for which only one nonsense mutation has been identified in Brunner syndrome, characterized in a single family by mild non-dysmorphic ID and impulsive, violent and aggressive behaviors. 24169519 2014
CUI: C0796275
Disease: Brunner Syndrome
Brunner Syndrome 		0.910 Biomarker disease GENOMICS_ENGLAND It is the case of the X-linked gene encoding monoamine oxidase A (MAOA), for which only one nonsense mutation has been identified in Brunner syndrome, characterized in a single family by mild non-dysmorphic ID and impulsive, violent and aggressive behaviors. 24169519 2014
CUI: C0796275
Disease: Brunner Syndrome
Brunner Syndrome 		0.910 GermlineCausalMutation disease ORPHANET It is the case of the X-linked gene encoding monoamine oxidase A (MAOA), for which only one nonsense mutation has been identified in Brunner syndrome, characterized in a single family by mild non-dysmorphic ID and impulsive, violent and aggressive behaviors. 24169519 2014
CUI: C0796275
Disease: Brunner Syndrome
Brunner Syndrome 		0.910 Biomarker disease MGD This mutation is analogous to the cause of a rare human disorder, Brunner syndrome, characterized by complete MAO A deficiency and impulsive aggressiveness. 18418249 2008
CUI: C0796275
Disease: Brunner Syndrome
Brunner Syndrome 		0.910 Biomarker disease MGD Aggressive behavior and altered amounts of brain serotonin and norepinephrine in mice lacking MAOA. 7792602 1995
CUI: C0796275
Disease: Brunner Syndrome
Brunner Syndrome 		0.910 GermlineCausalMutation disease ORPHANET Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A. 8211186 1993
CUI: C0796275
Disease: Brunner Syndrome
Brunner Syndrome 		0.910 GeneticVariation disease CLINVAR
CUI: C0796275
Disease: Brunner Syndrome
Brunner Syndrome 		0.910 Biomarker disease CTD_human
CUI: C0796275
Disease: Brunner Syndrome
Brunner Syndrome 		0.910 CausalMutation disease CLINVAR
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 AlteredExpression disease BEFREE Moreover, reduced MAOA expression may play a role in the mechanistic pathway linking SSRI exposure and behavioral deficits symptomatic of autism. 31170382 2020
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 AlteredExpression disease BEFREE These results suggest impaired MAO-A activity in the brain of subjects with autism, especially in children with autism. 28151561 2017
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 Biomarker disease BEFREE Interaction between MAOA and FOXP2 in association with autism and verbal communication in a Korean population. 24356376 2014
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 Biomarker disease CTD_human We replicated and extended a previously reported association between autism severity and a functional polymorphism in the monoamine oxidase A (MAOA) promoter region, MAOA-uVNTR, in a sample of 119 males, aged 2-13 years, with autism spectrum disorder from simplex families. 20573161 2011
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 GeneticVariation disease BEFREE However, the male children carrying 4 tandem repeats in the promoter region of the MAOA gene showed a two-fold higher risk of AU (or AU+ASD) than those carrying allele 3, adjusted for confounders (OR = 2.02, 95% CI = 1.12, 3.65, P = 0.02 for AU vs. TD, and OR = 2.05, 95% CI = 1.19, 3.53, P = 0.01 for ASD vs. TD). 21538940 2011
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 GeneticVariation disease BEFREE We replicated and extended a previously reported association between autism severity and a functional polymorphism in the monoamine oxidase A (MAOA) promoter region, MAOA-uVNTR, in a sample of 119 males, aged 2-13 years, with autism spectrum disorder from simplex families. 20573161 2011
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 GeneticVariation disease BEFREE In this study we genotyped the MAOA promoter polymorphism in a group of 29 males (age 2-3 years) with autism and a group of 39 healthy pediatric controls for whom brain MRI data was available. 18361446 2008
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 Biomarker disease CTD_human In this study we genotyped the MAOA promoter polymorphism in a group of 29 males (age 2-3 years) with autism and a group of 39 healthy pediatric controls for whom brain MRI data was available. 18361446 2008
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 GeneticVariation disease BEFREE Modifier effects in autism at the MAO-A and DBH loci. 15048649 2004
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 Biomarker disease CTD_human We conclude that functional MAOA-uVNTR alleles may act as a genetic modifier of the severity of autism in males. 12919132 2003
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 GeneticVariation disease BEFREE We conclude that functional MAOA-uVNTR alleles may act as a genetic modifier of the severity of autism in males. 12919132 2003
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 GeneticVariation disease BEFREE In the current study, we therefore examined, using the robust transmission disequilibrium test (TDT), possible preferential transmission of variants of a functional monoamine oxidase A (MAO A) promoter region polymorphism for linkage to autism. 11920849 2002
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 GeneticVariation disease BEFREE Negative results for transmission disequilibrium of polymorphisms of HTR2C and MAOA with autism were provided from German and Austrian families. 10374746 1999