MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 90; N. variants: 362
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.500 Biomarker disease CTD_human We evaluated 226 autistic individuals for alterations in the four genes most homologous to MECP2: MBD1, MBD2, MBD3, and MBD4. 19921286 2010
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.500 Biomarker disease CTD_human Identifying autism loci and genes by tracing recent shared ancestry. 18621663 2008
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.500 Biomarker disease CTD_human These mutations suggest that a possible association between MECP2 mutations and autism may warrant further study. 15211631 2004