DISEASES

Disease-gene associations mined from literature

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Literature associating PDE6C and congenital stationary night blindness

PDE6C [ENSP00000360502]

Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha; As cone-specific cGMP phosphodiesterase, it plays an essential role in light detection and cone phototransduction by rapidly decreasing intracellular levels of cGMP; Phosphodiesterases

Synonyms:  PDE6C,  PDE6Cp,  hPDE6C,  P51160,  PDE6C-001 ...

Linkouts:  STRING  Pharos  UniProt  OMIM

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.