DISEASES

Disease-gene associations mined from literature

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Human genes for X-linked cone-rod dystrophy 1

X-linked cone-rod dystrophy 1 [DOID:0111008]

A cone-rod dystrophy that has_material_basis_in mutation in an alternative terminal exon 15 of the RPGR gene on chromosome Xp11.

Synonyms:  X-linked cone-rod dystrophy 1,  DOID:0111008,  Xlinked conerod dystrophy 1,  COD1,  CORDX1 ...

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.