| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.170 | GeneticVariation | disease | BEFREE | Rett syndrome (RTT) is a pervasive developmental disorder caused by mutations in MECP2. | 30789962 | 2019 | ||||
|
0.170 | GeneticVariation | disease | BEFREE | Although abnormal regulation of neuronal genes due to mutant MeCP2 is thought to induce autistic behavior and impaired development in RTT patients, precise cellular mechanisms underlying the aberrant neural progression remain unclear. | 26012557 | 2015 | ||||
|
0.170 | GeneticVariation | disease | BEFREE | We used a battery of standardised measures of behaviour and functioning to test the following hypotheses: (1) autistic behaviour is prominent throughout childhood in RTT; (2) autistic features are more salient in individuals with milder presentation; (3) severity of autistic behaviour is associated with a wider range of behavioural problems; and (4) specific MECP2 mutations are linked to more severe autistic behaviour. | 21385260 | 2012 | ||||
|
0.170 | GeneticVariation | disease | 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 | ||||
|
0.170 | Biomarker | disease | BEFREE | We scanned methyl-CpG-binding protein 2 gene in 99 Italian patients with pervasive developmental disorder or with nonsyndromal mental retardation. | 19189931 | 2009 | ||||
|
0.170 | GeneticVariation | disease | BEFREE | Mutations in MECP2 gene account for approximately 80% of cases of Rett syndrome (RTT), an X-linked severe developmental disorder affecting young girls, as well as for most cases of Preserved Speech Variant (PSV), a mild RTT variant in which autistic behavior is common. | 12707946 | 2003 | ||||
|
0.170 | GeneticVariation | disease | 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 | ||||
|
0.170 | Biomarker | disease | HPO | |||||||
|
0.170 | CausalMutation | disease | CLINVAR |