MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 664; N. variants: 387
Disease: Convulsions ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4048158
Disease: Convulsions
Convulsions 		0.310 Biomarker phenotype CTD_human Novel variants identified in methyl-CpG-binding domain genes in autistic individuals. 19921286 2010
CUI: C4048158
Disease: Convulsions
Convulsions 		0.310 GeneticVariation phenotype BEFREE Because most cases of RTT are caused by mutations in the MECP2 gene it is reasonable to assume that convulsions are based on common pathogenetic mechanisms and thus should have a similar response to antiepileptic drugs. 17178248 2007