Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Rett Syndrome
|
0.870 | CausalMutation | CLINVAR | GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells. | 24916645 | 2015 | |||||
Rett Syndrome
|
0.870 | CausalMutation | CLINVAR | Rett syndrome mutations abolish the interaction of MeCP2 with the NCoR/SMRT co-repressor. | 23770565 | 2013 | |||||
Rett Syndrome
|
0.870 | CausalMutation | CLINVAR | MeCP2 deficiency is associated with impaired microtubule stability. | 23238081 | 2013 | |||||
Rett Syndrome
|
0.870 | CausalMutation | CLINVAR | Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations. | 21160487 | 2011 | |||||
Rett Syndrome
|
0.870 | CausalMutation | CLINVAR | Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation. | 21372149 | 2011 | |||||
Rett Syndrome
|
0.870 | CausalMutation | CLINVAR | MeCP2 deficiency downregulates specific nuclear proteins that could be partially recovered by valproic acid in vitro. | 20093853 | 2010 | |||||
Rett Syndrome
|
0.870 | CausalMutation | CLINVAR | Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms. | 17387578 | 2007 | |||||
Rett Syndrome
|
0.870 | CausalMutation | CLINVAR | Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients. | 16183801 | 2006 | |||||
Rett Syndrome
|
0.870 | CausalMutation | CLINVAR | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update. | 16473305 | 2006 | |||||
Rett Syndrome
|
0.870 | CausalMutation | CLINVAR | Influence of MECP2 gene mutation and X-chromosome inactivation on the Rett syndrome phenotype. | 15526954 | 2004 | |||||
Rett Syndrome
|
0.870 | CausalMutation | CLINVAR | Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome: a cohort of 171 cases. | 15173251 | 2004 | |||||
Rett Syndrome
|
0.870 | CausalMutation | CLINVAR | Mutations and polymorphisms in the human methyl CpG-binding protein MECP2. | 12872250 | 2003 | |||||
Rett Syndrome
|
0.870 | CausalMutation | CLINVAR | Gene expression patterns vary in clonal cell cultures from Rett syndrome females with eight different MECP2 mutations. | 12418965 | 2002 | |||||
Rett Syndrome
|
0.870 | CausalMutation | CLINVAR | DHPLC analysis of the MECP2 gene in Italian Rett patients. | 11462237 | 2001 | |||||
Rett Syndrome
|
0.870 | CausalMutation | CLINVAR | Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions. | 11241840 | 2001 | |||||
Rett Syndrome
|
0.870 | CausalMutation | CLINVAR | A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients. | 11214906 | 2001 | |||||
Rett Syndrome
|
0.870 | 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 | |||||
Rett Syndrome
|
0.870 | CausalMutation | CLINVAR | Functional consequences of Rett syndrome mutations on human MeCP2. | 11058114 | 2000 | |||||
Rett Syndrome
|
0.870 | CausalMutation | CLINVAR | Mutation screening in Rett syndrome patients. | 10745042 | 2000 | |||||
Rett Syndrome
|
0.870 | CausalMutation | CLINVAR | Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome. | 10991688 | 2000 | |||||
Rett Syndrome
|
0.870 | CausalMutation | CLINVAR | Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients. | 10814718 | 2000 | |||||
Rett Syndrome
|
0.870 | CausalMutation | CLINVAR | Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. | 10577905 | 1999 |