Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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A | 0.900 | CausalMutation | CLINVAR | Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. | 10508514 | 1999 |
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A | 0.900 | CausalMutation | CLINVAR | MECP2 mutations account for most cases of typical forms of Rett syndrome. | 10814719 | 2000 |
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A | 0.900 | CausalMutation | CLINVAR | 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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A | 0.900 | CausalMutation | CLINVAR | Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome. | 10944854 | 2000 |
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A | 0.900 | CausalMutation | CLINVAR | Functional consequences of Rett syndrome mutations on human MeCP2. | 11058114 | 2000 |
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A | 0.900 | CausalMutation | CLINVAR | 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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A | 0.900 | CausalMutation | CLINVAR | Mutation screening in Rett syndrome patients. | 10745042 | 2000 |
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A | 0.900 | GeneticVariation | CLINVAR | Chronic osteomyelitis in patients with sickle cell disease. | 10944834 | 2000 |
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A | 0.900 | CausalMutation | CLINVAR | Mutations in the MECP2 gene in a cohort of girls with Rett syndrome. | 10991689 | 2000 |
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A | 0.900 | CausalMutation | CLINVAR | Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome. | 10991688 | 2000 |
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A | 0.900 | CausalMutation | CLINVAR | The authors also report the identification of MeCP2 mutations in two males; a Klinefelter's male with classic RTT (T158M) and a hemizygous male infant with a Xq27-28 inversion and a novel 32 bp frameshift deletion [1154(del32)]. | 11402105 | 2001 |
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A | 0.900 | CausalMutation | CLINVAR | Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation. | 11738883 | 2001 |
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A | 0.900 | CausalMutation | CLINVAR | Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females. | 11269512 | 2001 |
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A | 0.900 | CausalMutation | CLINVAR | Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions. | 11241840 | 2001 |
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A | 0.900 | CausalMutation | CLINVAR | Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome. | 11376998 | 2001 |
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A | 0.900 | CausalMutation | CLINVAR | Mutation analysis of the MECP2 gene in patients with Rett syndrome. | 12567420 | 2003 |
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A | 0.900 | CausalMutation | CLINVAR | Mutations and polymorphisms in the human methyl CpG-binding protein MECP2. | 12872250 | 2003 |
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A | 0.900 | CausalMutation | CLINVAR | Rett syndrome in adolescent and adult females: clinical and molecular genetic findings. | 12966523 | 2003 |
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A | 0.900 | GeneticVariation | CLINVAR | Prenatal diagnosis in Rett syndrome. | 12065946 | 2003 |
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A | 0.900 | CausalMutation | CLINVAR | Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome. | 15057977 | 2004 |
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A | 0.900 | CausalMutation | CLINVAR | Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients. | 16183801 | 2006 |
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A | 0.900 | CausalMutation | CLINVAR | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update. | 16473305 | 2006 |
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A | 0.900 | CausalMutation | CLINVAR | Rett syndrome: North American database. | 18174548 | 2007 |
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A | 0.900 | GeneticVariation | CLINVAR | MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome. | 17089071 | 2007 |
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A | 0.900 | GeneticVariation | CLINVAR | Homozygosity for MECP2 gene in a girl with classical Rett syndrome. | 17881312 | 2008 |