DISEASES

Disease-gene associations mined from literature

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Human genes for cone-rod dystrophy 18

Cone-rod dystrophy 18 [DOID:0111024]

A cone-rod dystrophy that has_material_basis_in homozygous mutation in the RAB28 gene on chromosome 4p15.

Synonyms:  cone-rod dystrophy 18,  conerod dystrophy 18,  DOID:0111024,  CORD18

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.