DISEASES

Disease-gene associations mined from literature

SearchDownloadsAbout

Human genes for cone-rod dystrophy 19

Cone-rod dystrophy 19 [DOID:0111025]

A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the TTLL5 gene on chromosome 14q24.

Synonyms:  cone-rod dystrophy 19,  conerod dystrophy 19,  DOID:0111025,  CORD19

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.