DISEASES

Disease-gene associations mined from literature

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Literature associating PRPH2 and congenital stationary night blindness

PRPH2 [ENSP00000230381]

Peripherin 2 (retinal degeneration, slow); May function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. It is essential for disk morphogenesis; Belongs to the PRPH2/ROM1 family.

Synonyms:  PRPH2,  PRPH2p,  hPRPH2,  P23942,  CACD2 ...

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.