DISEASES

Disease-gene associations mined from literature

SearchDownloadsAbout

Human genes for Ritscher-Schinzel syndrome

Ritscher-Schinzel syndrome [DOID:0060565]

A syndrome characterized by craniofacial (prominent occiputal and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies.

Synonyms:  Ritscher-Schinzel syndrome,  DOID:0060565,  RitscherSchinzel syndrome,  Ritscher-Schinzel disease,  Ritscher-Schinzel 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.