Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1414
Gene Symbol: CRYBB1
CRYBB1
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract 		0.400 GermlineCausalMutation ORPHANET Molecular genetics of congenital nuclear cataract. 24384146

2014
Entrez Id: 1414
Gene Symbol: CRYBB1
CRYBB1
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract 		0.400 GermlineCausalMutation ORPHANET A novel nonsense mutation in CRYBB1 associated with autosomal dominant congenital cataract. 18432316

2008
Entrez Id: 1414
Gene Symbol: CRYBB1
CRYBB1
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract 		0.400 GermlineCausalMutation ORPHANET Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract. 17460281

2007