DISEASES

Disease-gene associations mined from literature

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Human genes for Cole-Carpenter syndrome

Cole-Carpenter syndrome [DOID:0060438]

An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance.

Synonyms:  Cole-Carpenter syndrome,  ColeCarpenter syndrome,  Cole-Carpenter disease,  Cole-Carpenter disorder,  Cole-Carpenter syndromes ...

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.