Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.400 GeneticVariation phenotype 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 		0.400 GeneticVariation phenotype CLINVAR Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2). 12615169 2003
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.400 GeneticVariation phenotype CLINVAR Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study. 27354166 2016
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.400 GeneticVariation phenotype CLINVAR Dissection of the methyl-CpG binding domain from the chromosomal protein MeCP2. 8177735 1993
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.400 GeneticVariation phenotype CLINVAR Functional consequences of Rett syndrome mutations on human MeCP2. 11058114 2000
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.400 GeneticVariation phenotype CLINVAR Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH. 16169931 2006
Entrez Id: 10943
Gene Symbol: MSL3
MSL3 		0.400 GeneticVariation phenotype CLINVAR The MSL complex: juggling RNA-protein interactions for dosage compensation and beyond. 25900149 2015
Entrez Id: 10943
Gene Symbol: MSL3
MSL3 		0.400 GeneticVariation phenotype CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719 2017
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.400 GeneticVariation phenotype CLINVAR Using a large international sample to investigate epilepsy in Rett syndrome. 23421866 2013
Entrez Id: 10943
Gene Symbol: MSL3
MSL3 		0.400 GeneticVariation phenotype CLINVAR The MRG domain mediates the functional integration of MSL3 into the dosage compensation complex. 15988010 2005
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.400 GeneticVariation phenotype CLINVAR MECP2 mutations in males. 17351020 2007
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.400 GeneticVariation phenotype CLINVAR Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion. 15558314 2005
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.400 GeneticVariation phenotype CLINVAR Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2. 17267601 2007
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.400 GeneticVariation phenotype CLINVAR Rett syndrome: revised diagnostic criteria and nomenclature. 21154482 2010
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.400 GeneticVariation phenotype CLINVAR MECP2 duplication: possible cause of severe phenotype in females. 24458799 2014
Entrez Id: 10943
Gene Symbol: MSL3
MSL3 		0.400 GeneticVariation phenotype CLINVAR A human protein complex homologous to the Drosophila MSL complex is responsible for the majority of histone H4 acetylation at lysine 16. 16227571 2005
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.400 GeneticVariation phenotype CLINVAR Epilepsy in a representative series of Rett syndrome. 11227330 2001
Entrez Id: 10943
Gene Symbol: MSL3
MSL3 		0.400 GeneticVariation phenotype CLINVAR Structural and biochemical studies on the chromo-barrel domain of male specific lethal 3 (MSL3) reveal a binding preference for mono- or dimethyllysine 20 on histone H4. 20943666 2010
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.400 GeneticVariation phenotype CLINVAR Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome. 15057977 2004
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.400 GeneticVariation phenotype CLINVAR Male Rett phenotypes in T158M and R294X MeCP2-mutations. 17236109 2006
Entrez Id: 10943
Gene Symbol: MSL3
MSL3 		0.400 GeneticVariation phenotype CLINVAR Mof-associated complexes have overlapping and unique roles in regulating pluripotency in embryonic stem cells and during differentiation. 24898753 2014
Entrez Id: 10943
Gene Symbol: MSL3
MSL3 		0.400 GeneticVariation phenotype CLINVAR Corecognition of DNA and a methylated histone tail by the MSL3 chromodomain. 20657587 2010
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.400 GeneticVariation phenotype CLINVAR Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. 18337588 2008
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.400 GeneticVariation phenotype 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 		0.400 GeneticVariation phenotype CLINVAR Early progressive encephalopathy in boys and MECP2 mutations. 16832102 2006