DISEASES

Disease-gene associations mined from literature

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Human genes for Nager acrofacial dysostosis

Nager acrofacial dysostosis [DOID:5768]

An acrofacial dysostosis characterized by underdeveloped cheek bones, very small lower jaw, cleft palate, defects in the middle ear, absent eyelashes, and a notch in the lower eyelids called a coloboma, in children.

Synonyms:  Nager acrofacial dysostosis,  DOID:5768,  Nager acrofacial dysostosises,  acrofacial dysostosis 1, Nager type,  AFD ...

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.