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 Rapid detection of deletions in hotspot C-terminal segment region of MECP2 by routine PCR method: report of two classical Rett syndrome patients of Indian origin. 19371229 2009
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 GeneticVariation 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 Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. 18337588 2008
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 CausalMutation disease CLINVAR Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome. 10991688 2000
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 CausalMutation disease CLINVAR A 77-year-old woman and a preserved speech variant among the Danish Rett patients with mutations in MECP2. 11738879 2001
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 CausalMutation disease CLINVAR Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update. 16473305 2006
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 CausalMutation disease CLINVAR MeCP2 deficiency is associated with impaired microtubule stability. 23238081 2013
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 CausalMutation disease CLINVAR Activity-dependent phosphorylation of MeCP2 threonine 308 regulates interaction with NCoR. 23770587 2013
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 CausalMutation disease CLINVAR Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome. 14974082 2004
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 CausalMutation disease CLINVAR Genotype-phenotype correlation in Brazillian Rett syndrome patients. 19722030 2009
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 CausalMutation disease CLINVAR Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms. 17387578 2007
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 CausalMutation disease CLINVAR Altered microtubule dynamics and vesicular transport in mouse and human MeCP2-deficient astrocytes. 26604147 2016
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 CausalMutation disease CLINVAR Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients. 10814718 2000
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 GeneticVariation disease CLINVAR MECP2 gene mutations in non-syndromic X-linked mental retardation: phenotype-genotype correlation. 14598336 2003
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 Biomarker disease CTD_human
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 CausalMutation disease CLINVAR Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome. 11913567 2002
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 CausalMutation disease CLINVAR Preserved speech variants of the Rett syndrome: molecular and clinical analysis. 11746022 2001
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 CausalMutation disease CLINVAR Mutation analysis in Rett syndrome. 11960578 2001
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 GeneticVariation disease BEFREE Mutations in MECP2 exon 1 affecting the MeCP2_e1 isoform are relatively rare causes of RTT in females, and only one case of a male patient with MECP2-related severe neonatal encephalopathy caused by a mutation in MECP2 exon 1 has been reported. 29341476 2018
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 CausalMutation disease CLINVAR Subclinical inflammatory status in Rett syndrome. 24511209 2014
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 CausalMutation disease CLINVAR [Technic of the entire cochleogram for the study of the cochlea in guinea pigs]. 1241840 1975
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 CausalMutation disease CLINVAR Heterogeneity in residual function of MeCP2 carrying missense mutations in the methyl CpG binding domain. 12843318 2003
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 CausalMutation disease CLINVAR InterRett and RettBASE: International Rett Syndrome Association databases for Rett syndrome. 14649554 2003
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 CausalMutation disease CLINVAR Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions. 11241840 2001
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 CausalMutation disease CLINVAR Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. 10508514 1999