DISEASES

Disease-gene associations mined from literature

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Literature associating NRL and achromatopsia

NRL [ENSP00000454062]

Neural retina-specific leucine zipper protein; Acts as a transcriptional activator which regulates the expression of several rod-specific genes, including RHO and PDE6B . Functions also as a transcriptional coactivator, stimulating transcription mediated by the transcription factor CRX and NR2E3 . Binds in a sequence-specific manner to the rhodopsin promoter .

Synonyms:  NRL,  H0YNW2,  P54845,  H0YNW2p,  hH0YNW2 ...

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.

Currently maintained by Qingyao Huang at Swiss Institute of Bioinformatics, University of Zurich. Licensed under CC BY 4.0.