Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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0.800 | GeneticVariation | UNIPROT | Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation. | 17296936 | 2007 |
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0.800 | GeneticVariation | UNIPROT | A novel familial MECP2 mutation in a young boy: clinical and molecular findings. | 16966553 | 2006 |
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0.800 | GeneticVariation | UNIPROT | Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2). | 12615169 | 2003 |
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0.800 | GeneticVariation | UNIPROT | A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome. | 11885030 | 2002 |
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|
0.800 | GeneticVariation | UNIPROT | A Rett syndrome MECP2 mutation that causes mental retardation in men. | 11805248 | 2002 |
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0.800 | GeneticVariation | UNIPROT | MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution. | 12161600 | 2002 |
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|
0.800 | GeneticVariation | UNIPROT | Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening? | 12325019 | 2002 |
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|
0.800 | GeneticVariation | UNIPROT | MECP2 is highly mutated in X-linked mental retardation. | 11309367 | 2001 |
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|
0.800 | GeneticVariation | UNIPROT | MECP2 mutation in male patients with non-specific X-linked mental retardation. | 11007980 | 2000 |
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|
0.800 | GeneticVariation | UNIPROT | A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males. | 10986043 | 2000 |
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|
A | 0.800 | CausalMutation | CLINVAR |