CRYBB3, crystallin beta B3, 1417

N. diseases: 10; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009691
Disease: Congenital cataract
Congenital cataract
0.120 GeneticVariation disease BEFREE A Common Ancestral Mutation in CRYBB3 Identified in Multiple Consanguineous Families with Congenital Cataracts. 27326458 2016
CUI: C0009691
Disease: Congenital cataract
Congenital cataract
0.120 GeneticVariation disease CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549 2016
CUI: C0009691
Disease: Congenital cataract
Congenital cataract
0.120 CausalMutation disease CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549 2016
CUI: C0009691
Disease: Congenital cataract
Congenital cataract
0.120 GeneticVariation disease BEFREE For the first time, a mutation in CRYBB3 is reported in two consanguineous Pakistani families with autosomal recessive congenital cataracts. 15914629 2005