DISEASES

Disease-gene associations mined from literature

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Human genes for Coffin-Lowry syndrome

Coffin-Lowry syndrome [DOID:3783]

A syndrome that is characterized by skeletal malformations, growth retardation, hearing deficit, paroxysmal movement disorders, and cognitive impairment in affected males and some carrier females, and has_material_basis_in mutation in the RSK2 gene on chromosome Xp22.

Synonyms:  Coffin-Lowry syndrome,  CoffinLowry syndrome,  Coffin-Lowry disease,  Coffin-Lowry disorder,  Coffin-Lowry syndromes ...

Linkouts:  OMIM

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.