CRYBB2, crystallin beta B2, 1415

N. diseases: 49; N. variants: 12
Disease: CATARACT, AUTOSOMAL DOMINANT ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1858679
Disease: CATARACT, AUTOSOMAL DOMINANT
CATARACT, AUTOSOMAL DOMINANT 		0.040 GeneticVariation disease BEFREE A CRYBB2 mutation in a Taiwanese family with autosomal dominant cataract. 29395391 2019
CUI: C1858679
Disease: CATARACT, AUTOSOMAL DOMINANT
CATARACT, AUTOSOMAL DOMINANT 		0.040 GeneticVariation disease BEFREE A novel CRYBB2 missense mutation causing congenital autosomal dominant cataract in an Italian family. 22846113 2013
CUI: C1858679
Disease: CATARACT, AUTOSOMAL DOMINANT
CATARACT, AUTOSOMAL DOMINANT 		0.040 GeneticVariation disease BEFREE Identification of a novel CRYBB2 missense mutation causing congenital autosomal dominant cataract. 22312185 2012
CUI: C1858679
Disease: CATARACT, AUTOSOMAL DOMINANT
CATARACT, AUTOSOMAL DOMINANT 		0.040 GeneticVariation disease BEFREE Gene conversion mutation in crystallin, beta-B2 (CRYBB2) in a Chilean family with autosomal dominant cataract. 17234267 2007