DISEASES

Disease-gene associations mined from literature

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Literature associating RDH14 and Leber congenital amaurosis 13

RDH14 [ENSP00000370648]

Retinol dehydrogenase 14; Retinol dehydrogenase with a clear preference for NADP. Displays high activity towards 9-cis, 11-cis and all-trans-retinol. Shows a very weak activity towards 13-cis-retinol. Has no activity towards steroid; Belongs to the short-chain dehydrogenases/reductases (SDR) family.

Synonyms:  RDH14,  RDH14p,  hRDH14,  Q53RX3,  Q9HBH5 ...

Linkouts:  STRING  Pharos  UniProt

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.