DISEASES

Disease-gene associations mined from literature

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Human genes for acrofrontofacionasal dysostosis

Acrofrontofacionasal dysostosis [DOID:0060226]

A dysostosis characterized by intellectual disability, short stature, hypertelorism, broad notched nasal tip, cleft lip palate, postaxial camptobrachypolysyndactyly, fibular hypoplasia and anomalies of foot structure.

Synonyms:  acrofrontofacionasal dysostosis,  acrofrontofacionasal dysostosises,  DOID:0060226,  AFFN dysostosis,  Richieri-Costa-Colletto syndrome ...

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.