DISEASES

Disease-gene associations mined from literature

Literature associating BEST1 and cone dystrophy

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