Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.400 GeneticVariation group BEFREE Rett syndrome (RTT) is a pervasive developmental disorder caused by mutations in MECP2. 30789962 2019
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.400 GeneticVariation group BEFREE Rett syndrome is an autism spectrum disorder resulting from defects in the gene encoding the methyl-CpG-binding protein 2 (MeCP2). 23392116 2013
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.400 GeneticVariation group BEFREE Oxidative damage has been reported in Rett syndrome (RTT), a pervasive development disorder mainly caused up to 95% of cases by mutations in the X-linked methyl-CpG binding protein 2 (MeCP2) gene. 23009927 2013
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.400 GeneticVariation group BEFREE The main cause of Rett syndrome (RTT), a pervasive development disorder almost exclusively affecting females, is a mutation in the methyl-CpG binding protein 2 (MeCP2) gene. 22758644 2012
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.400 Biomarker group CTD_human Crh and Oprm1 mediate anxiety-related behavior and social approach in a mouse model of MECP2 duplication syndrome. 22231481 2012
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.400 Biomarker group BEFREE MeCP2+/- mouse model of RTT reproduces auditory phenotypes associated with Rett syndrome and replicate select EEG endophenotypes of autism spectrum disorder. 22249109 2012
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.400 GeneticVariation group BEFREE Mutations in the MECP2 gene cause the autism spectrum disorder Rett syndrome (RTT). 22119903 2011
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.400 GeneticVariation group BEFREE Point mutations and genomic rearrangements in the MECP2 gene are the major cause of Rett syndrome (RTT), a pervasive developmental disorder affecting almost exclusively females. 21600714 2011
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.400 GeneticVariation group BEFREE Rett syndrome (RTT) is a neurodevelopmental autism spectrum disorder that affects girls due primarily to mutations in the gene encoding methyl-CpG binding protein 2 (MECP2). 21372149 2011
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.400 GeneticVariation group BEFREE Mutations in the X-linked MECP2 gene are the primary cause of the severe autism spectrum disorder RTT (Rett syndrome). 20298210 2010
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.400 GeneticVariation group BEFREE Rett syndrome (RTT) is an autism spectrum disorder that results from mutations in the transcriptional regulator methyl-CpG binding protein 2 (MECP2). 19628041 2009
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.400 Biomarker group BEFREE We scanned methyl-CpG-binding protein 2 gene in 99 Italian patients with pervasive developmental disorder or with nonsyndromal mental retardation. 19189931 2009
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.400 GeneticVariation group BEFREE Mutations in the human MECP2 gene cause the autism spectrum disorder Rett Syndrome. 18631120 2008
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.400 GeneticVariation group BEFREE Except for Rett syndrome--attributable in most affected individuals to mutations of the methyl-CpG-binding protein 2 (MeCP2) gene--the other PDD subtypes (autistic disorder, Asperger disorder, disintegrative disorder, and PDD Not Otherwise Specified [PDD-NOS]) are not linked to any particular genetic or nongenetic cause. 15121991 2004
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.400 GeneticVariation group BEFREE The methyl-CpG binding protein 2 (MeCP2) gene has recently been identified as the gene responsible for Rett syndrome (RS), a pervasive developmental disorder considered by many to be one of the autism spectrum disorders. 12555243 2003
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.400 GeneticVariation group BEFREE Furthermore, it has been demonstrated that Rett syndrome, which is categorized into pervasive developmental disorders the same as the autism spectrum disorders are, is associated with mutations in MECP2 gene. 12027529 2002
Entrez Id: 57496
Gene Symbol: MRTFB
MRTFB
0.310 GeneticVariation group BEFREE Further, nucleotide substitutions in the MKL1 and MKL2 genes are found in patients with schizophrenia and autism spectrum disorder, respectively. 29335431 2018
Entrez Id: 57496
Gene Symbol: MRTFB
MRTFB
0.310 Biomarker group CTD_human Linkage and candidate gene studies of autism spectrum disorders in European populations. 20442744 2010
Entrez Id: 1815
Gene Symbol: DRD4
DRD4
0.310 Biomarker group BEFREE DRD4 allelic variation may be a prognostic biomarker for challenging behaviors in children with autism spectrum disorder, but these exploratory findings remain tentative pending replication with larger independent samples. 20731709 2010
Entrez Id: 1815
Gene Symbol: DRD4
DRD4
0.310 Biomarker group CTD_human DRD4 allelic variation may be a prognostic biomarker for challenging behaviors in children with autism spectrum disorder, but these exploratory findings remain tentative pending replication with larger independent samples. 20731709 2010
Entrez Id: 414
Gene Symbol: ARSD
ARSD
0.100 Biomarker group BEFREE The aim of this study is to investigate the association between prematurity and diagnosis of neurodevelopmental disorders (ND) (attention deficit/hyperactivity disorder [ADHD] or autism spectrum disorder [ASD]) in Brazilian children and adolescents. 31552529 2020
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
0.100 Biomarker group BEFREE The loss of CNTNAP2 function leads to autism spectrum disorder in humans and to autistic behaviours in mice. 31653345 2020
Entrez Id: 414
Gene Symbol: ARSD
ARSD
0.100 GeneticVariation group BEFREE Familial disorders with onset in childhood (e.g., autism spectrum disorder [ASD]) are promising targets for presymptomatic prediction; however, little is known about parent perceptions of risk to their children in the presymptomatic period. 31764985 2020
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
0.100 GeneticVariation group BEFREE In addition, we showed that Fragile X Mental Retardation gene 1 (Fmr1), which is mutated in the autism spectrum disorder fragile X syndrome, is an important regulatory target for miR-129-5p. 30911036 2019
Entrez Id: 5021
Gene Symbol: OXTR
OXTR
0.100 GeneticVariation group BEFREE In adults, DNA methylation of the oxytocin receptor gene (OXTRm) is an epigenetic modification that is variable, predictive of gene expression, and has been linked to autism spectrum disorder and the neural response to social cues. 31125951 2019