CRYBA4, crystallin beta A4, 1413

N. diseases: 20; N. variants: 7
Disease: Congenital cataract ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.030 Biomarker disease BEFREE It is reported that several mutations in the acidic β-crystallin 4 (CRYBA4) are related to congenital cataracts. 31254514 2019
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.030 GeneticVariation disease BEFREE Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract. 28272538 2017
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.030 GeneticVariation disease BEFREE A missense mutation in CRYBA4 associated with congenital cataract and microcornea. 20577656 2010