Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.110 CausalMutation disease CLINVAR Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study. 27354166 2016
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.110 GeneticVariation disease CLINVAR Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study. 27354166 2016
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.110 GeneticVariation disease CLINVAR Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome. 24399845 2014
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.110 CausalMutation disease CLINVAR MECP2 duplication: possible cause of severe phenotype in females. 24458799 2014
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.110 CausalMutation disease CLINVAR Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome. 24399845 2014
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.110 GeneticVariation disease CLINVAR MECP2 duplication: possible cause of severe phenotype in females. 24458799 2014
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.110 CausalMutation disease CLINVAR Using a large international sample to investigate epilepsy in Rett syndrome. 23421866 2013
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.110 GeneticVariation disease CLINVAR Using a large international sample to investigate epilepsy in Rett syndrome. 23421866 2013
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.110 Biomarker disease BEFREE De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features. 20236124 2010
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.110 GeneticVariation disease CLINVAR Rett syndrome: revised diagnostic criteria and nomenclature. 21154482 2010
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.110 CausalMutation disease CLINVAR Rett syndrome: revised diagnostic criteria and nomenclature. 21154482 2010
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.110 GeneticVariation 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
0.110 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
0.110 CausalMutation disease CLINVAR MECP2 mutations in males. 17351020 2007
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.110 GeneticVariation disease CLINVAR MECP2 mutations in males. 17351020 2007
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.110 GeneticVariation disease CLINVAR Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2. 17267601 2007
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.110 CausalMutation disease CLINVAR Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2. 17267601 2007
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.110 CausalMutation disease CLINVAR Male Rett phenotypes in T158M and R294X MeCP2-mutations. 17236109 2006
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.110 CausalMutation disease CLINVAR Early progressive encephalopathy in boys and MECP2 mutations. 16832102 2006
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.110 GeneticVariation disease CLINVAR Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH. 16169931 2006
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.110 GeneticVariation disease CLINVAR Early progressive encephalopathy in boys and MECP2 mutations. 16832102 2006
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.110 CausalMutation disease CLINVAR Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH. 16169931 2006
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.110 GeneticVariation disease CLINVAR Male Rett phenotypes in T158M and R294X MeCP2-mutations. 17236109 2006
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.110 CausalMutation disease CLINVAR Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion. 15558314 2005
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.110 GeneticVariation disease CLINVAR Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion. 15558314 2005