Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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0.810 | GeneticVariation | UNIPROT | Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders. | 28348241 | 2017 |
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0.810 | GeneticVariation | UNIPROT | Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. | 25818041 | 2015 |
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0.810 | GeneticVariation | UNIPROT | Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. | 23519317 | 2013 |
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0.810 | GeneticVariation | UNIPROT | Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation. | 17296936 | 2007 |
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0.810 | GeneticVariation | UNIPROT | Rett syndrome in adolescent and adult females: clinical and molecular genetic findings. | 12966523 | 2003 |
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0.810 | GeneticVariation | UNIPROT | Mutation analysis of the MECP2 gene in patients with Rett syndrome. | 12567420 | 2003 |
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0.810 | GeneticVariation | UNIPROT | Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation. | 12966522 | 2003 |
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0.810 | GeneticVariation | UNIPROT | Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome. | 11376998 | 2001 |
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0.810 | GeneticVariation | UNIPROT | Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein. | 11283202 | 2001 |
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0.810 | GeneticVariation | UNIPROT | Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation. | 11706982 | 2001 |
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0.810 | GeneticVariation | UNIPROT | Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation. | 11738883 | 2001 |
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0.810 | GeneticVariation | UNIPROT | Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females. | 11269512 | 2001 |
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0.810 | GeneticVariation | UNIPROT | MeCP2 mutations in children with and without the phenotype of Rett syndrome. | 11402105 | 2001 |
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0.810 | GeneticVariation | UNIPROT | Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome. | 10991688 | 2000 |
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0.810 | GeneticVariation | UNIPROT | Mutations in the MECP2 gene in a cohort of girls with Rett syndrome. | 10991689 | 2000 |
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0.810 | GeneticVariation | UNIPROT | Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. | 10767337 | 2000 |
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0.810 | GeneticVariation | UNIPROT | Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome. | 10944854 | 2000 |
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0.810 | GeneticVariation | UNIPROT | Mutation screening in Rett syndrome patients. | 10745042 | 2000 |
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0.810 | GeneticVariation | UNIPROT | MECP2 mutations account for most cases of typical forms of Rett syndrome. | 10814719 | 2000 |
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0.810 | GeneticVariation | UNIPROT | Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms. | 11055898 | 2000 |
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0.810 | GeneticVariation | UNIPROT | Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. | 10508514 | 1999 |
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G | 0.810 | CausalMutation | CLINVAR |