DISEASES

Disease-gene associations mined from literature

SearchDownloadsAbout

Human genes for Joubert syndrome 9

Joubert syndrome 9 [DOID:0111004]

A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CC2D2A gene on chromosome 4p15.

Synonyms:  Joubert syndrome 9,  DOID:0111004,  JBTS9

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.