DISEASES

Disease-gene associations mined from literature

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Human genes for Freeman-Sheldon syndrome

Freeman-Sheldon syndrome [DOID:0111604]

A distal arthrogryposis characterized by microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures.

Synonyms:  Freeman-Sheldon syndrome,  DOID:0111604,  FreemanSheldon syndrome,  Freeman-Sheldon disease,  Freeman-Sheldon 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.