DISEASES

Disease-gene associations mined from literature

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Human genes for MECP2 duplication syndrome

MECP2 duplication syndrome [DOID:0080713]

A syndrome that has_material_basis_in an extra copy of the MECP2 gene in each cell, occurs almost exclusively in males and that is characterized by delayed development of motor skills such as sitting and walking.

Synonyms:  MECP2 duplication syndrome,  DOID:0080713,  MECP2 duplication disease,  MECP2 duplication disorder

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.