Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1415
Gene Symbol: CRYBB2
CRYBB2
CUI: C0344523
Disease: Cataract, congenital, cerulean type 1
Cataract, congenital, cerulean type 1 		0.630 GermlineCausalMutation ORPHANET This is the first report of congenital cerulean cataract associated with a mutation in CRYBB2 in a Chinese family. 19321936

2009
Entrez Id: 1415
Gene Symbol: CRYBB2
CRYBB2
CUI: C0344523
Disease: Cataract, congenital, cerulean type 1
Cataract, congenital, cerulean type 1 		0.630 GermlineCausalMutation ORPHANET Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2. 9158139

1997