DISEASES

Disease-gene associations mined from literature

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Human genes for severe congenital encephalopathy due to MECP2 mutation

Severe congenital encephalopathy due to MECP2 mutation [DOID:0111932]

A brain disease characterized by severe neonatal encephalopathy, developmental delay, and microcephaly that has_material_basis_in hemizygous mutation in MECP2 on chromosome Xq28.

Synonyms:  severe congenital encephalopathy due to MECP2 mutation,  DOID:0111932,  neonatal severe encephalopathy due to MECP2 mutations,  severe neonatal-onset encephalopathy with microcephaly,  severe neonatalonset encephalopathy with microcephaly ...

The disease-gene associations are derived from automatic text mining of the biomedical literature, manually curated database annotations, cancer mutation data, and genome-wide association studies. The confidence of each association is signified by stars, where ★★★★★ is the highest confidence and ★☆☆☆☆ is the lowest.

Developed by Sune Frankild, Alexander Junge, Albert Pallejà, Dhouha Grissa, Kalliopi Tsafou, and Lars Juhl Jensen from the Novo Nordisk Foundation Center for Protein Research.