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 Biomarker disease CTD_human
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 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 Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. 10508514 1999
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 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 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 Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients. 10814718 2000
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 CausalMutation disease CLINVAR Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. 10767337 2000
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 CausalMutation disease CLINVAR Functional consequences of Rett syndrome mutations on human MeCP2. 11058114 2000
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 CausalMutation disease CLINVAR MECP2 mutation in male patients with non-specific X-linked mental retardation. 11007980 2000
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 CausalMutation disease CLINVAR Preserved speech variant is allelic of classic Rett syndrome. 10854091 2000
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 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 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 DHPLC analysis of the MECP2 gene in Italian Rett patients. 11462237 2001
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 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 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 Mutation analysis of the methyl-CpG-binding protein 2 gene (MECP2) in Rett patients with preserved speech. 11738864 2001
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 CausalMutation disease CLINVAR Molecular analysis of Japanese patients with Rett syndrome: Identification of five novel mutations and genotype-phenotype correlation. 11524741 2001
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 GeneticVariation disease UNIPROT MECP2 mutation in non-fatal, non-progressive encephalopathy in a male. 11238684 2001
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 CausalMutation disease CLINVAR Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation. 11738883 2001
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.720 GeneticVariation disease CLINVAR MECP2 is highly mutated in X-linked mental retardation. 11309367 2001