MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 90; N. variants: 362
Disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1968556
Disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS 		0.720 Biomarker disease GENOMICS_ENGLAND Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features. 29618507 2018
CUI: C1968556
Disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS 		0.720 GermlineCausalMutation disease ORPHANET Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure. 18477000 2008
CUI: C1968556
Disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS 		0.720 GeneticVariation disease UNIPROT MECP2 mutation in non-fatal, non-progressive encephalopathy in a male. 11238684 2001
CUI: C1968556
Disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS 		0.720 Biomarker disease CTD_human