Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.700 Biomarker CTD_human Males with MECP2 mutations present with a broad spectrum of phenotypes ranging from neonatal encephalopathy to nonsyndromic mental retardation (MR). 20098342

2010

Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.700 Biomarker 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

Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.700 Biomarker CTD_human MECP2 gene mutations may be considered a rare cause of MR in males although great phenotypic variation hinders genotype-phenotype correlation. 20098342

2010

Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.700 Biomarker GENOMICS_ENGLAND