DISEASES

Disease-gene associations mined from literature

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Human genes for Joubert syndrome 1

Joubert syndrome 1 [DOID:0110980]

A Joubert syndrome that has_material_basis_in homozygous mutation in the INPP5E gene on chromosome 9q34.

Synonyms:  Joubert syndrome 1,  DOID:0110980,  CORS1,  CPD4,  JBTS1 ...

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.