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: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 Biomarker group CTD_human Males with MECP2 mutations present with a broad spectrum of phenotypes ranging from neonatal encephalopathy to nonsyndromic mental retardation (MR). 20098342 2010
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 Biomarker group CTD_human Misregulation of the methyl-CpG-binding protein 2 (MECP2) gene has been found to cause a myriad of neurological disorders including autism, mental retardation, seizures, learning disabilities, and Rett syndrome. 19921286 2010