DISEASES

Disease-gene associations mined from literature

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Literature associating BEST1 and achromatopsia

BEST1 [ENSP00000399709]

Vitelliform macular dystrophy protein 2; Forms calcium-sensitive chloride channels. Highly permeable to bicarbonate; Bestrophins

Synonyms:  BEST1,  BEST1p,  hBEST1,  B7Z1N8,  B7Z3G2 ...

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.