Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 CausalMutation disease 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
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 CausalMutation disease CLINVAR Variable phenotypic expression of a MECP2 mutation in a family. 20151026 2009
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 CausalMutation disease CLINVAR [Application of long range polymerase chain reaction and DNA direct sequencing in diagnosis of Rett syndrome]. 18021529 2007
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 GeneticVariation disease CLINVAR MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability. 26490184 2016
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 CausalMutation disease CLINVAR Functional analyses of MeCP2 mutations associated with Rett syndrome using transient expression systems. 11738866 2001
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 CausalMutation disease CLINVAR Using a large international sample to investigate epilepsy in Rett syndrome. 23421866 2013
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 CausalMutation disease CLINVAR MECP2 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome. 12325033 2002
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 CausalMutation disease CLINVAR MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features. 11245712 2001
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 CausalMutation disease CLINVAR Rett syndrome like phenotypes in the R255X Mecp2 mutant mouse are rescued by MECP2 transgene. 25634563 2015
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 CausalMutation disease CLINVAR Characterization of the MeCP2R168X knockin mouse model for Rett syndrome. 25541993 2014
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 CausalMutation disease CLINVAR Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. 10577905 1999
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 CausalMutation disease CLINVAR Apoptotic Activity of MeCP2 Is Enhanced by C-Terminal Truncating Mutations. 27442528 2016
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 CausalMutation disease CLINVAR Spontaneous recurrent mutations and a complex rearrangement in the MECP2 gene in the light of current models of mutagenesis. 22525432 2012
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 CausalMutation disease CLINVAR A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients. 11214906 2001
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 CausalMutation disease CLINVAR MeCP2 Rett mutations affect large scale chromatin organization. 21831886 2011
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 CausalMutation disease CLINVAR What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome? 22182064 2012
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 CausalMutation disease CLINVAR Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. 25473036 2014
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 CausalMutation disease CLINVAR Impact of Rett Syndrome Mutations on MeCP2 MBD Stability. 26418480 2015
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 CausalMutation disease CLINVAR From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2. 27929079 2016
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 CausalMutation disease CLINVAR [Analysis of the parental origin of MECP2 mutations in patients with Rett syndrome]. 20376788 2010
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 CausalMutation disease CLINVAR The molecular basis of variable phenotypic severity among common missense mutations causing Rett syndrome. 26647311 2016
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 CausalMutation disease CLINVAR DHPLC analysis of the MECP2 gene in Italian Rett patients. 11462237 2001
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 CausalMutation disease CLINVAR Effects of Rett syndrome mutations of the methyl-CpG binding domain of the transcriptional repressor MeCP2 on selectivity for association with methylated DNA. 10852707 2000
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 CausalMutation disease CLINVAR Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms. 15737703 2005
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 CausalMutation disease CLINVAR Rett syndrome mutations abolish the interaction of MeCP2 with the NCoR/SMRT co-repressor. 23770565 2013