DISEASES

Disease-gene associations mined from literature

SearchDownloadsAbout

Human genes for Joubert syndrome 22

Joubert syndrome 22 [DOID:0110991]

A Joubert syndrome that has_material_basis_in homozygous mutation in the PDE6D gene on chromosome 2q37.

Synonyms:  Joubert syndrome 22,  DOID:0110991,  JBTS22

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.