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 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 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 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 GeneticVariation disease CLINVAR
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 Biomarker disease CTD_human
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 CausalMutation disease CLINVAR
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 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 HPO
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
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 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 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 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 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 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 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 AlteredExpression disease BEFREE These results suggest impaired MAO-A activity in the brain of subjects with autism, especially in children with autism. 28151561 2017