Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1411
Gene Symbol: CRYBA1
CRYBA1
0.100 CausalMutation phenotype CLINVAR A novel splice site mutation of CRYBA3/A1 gene associated with congenital cataract in a Chinese family. 28149769 2017
Entrez Id: 1411
Gene Symbol: CRYBA1
CRYBA1
0.100 CausalMutation phenotype CLINVAR Human βA3/A1-crystallin splicing mutation causes cataracts by activating the unfolded protein response and inducing apoptosis in differentiating lens fiber cells. 26851658 2016
Entrez Id: 1411
Gene Symbol: CRYBA1
CRYBA1
0.100 CausalMutation phenotype CLINVAR βA3/A1-crystallin: more than a lens protein. 25461968 2015
Entrez Id: 1411
Gene Symbol: CRYBA1
CRYBA1
0.100 CausalMutation phenotype CLINVAR Congenital cataracts due to a novel 2‑bp deletion in CRYBA1/A3. 24926697 2014
Entrez Id: 1411
Gene Symbol: CRYBA1
CRYBA1
0.100 CausalMutation phenotype CLINVAR A recurrent mutation in CRYBA1 is associated with an autosomal dominant congenital nuclear cataract disease in a Chinese family. 21686330 2011
Entrez Id: 1411
Gene Symbol: CRYBA1
CRYBA1
0.100 CausalMutation phenotype CLINVAR Characterization of the G91del CRYBA1/3-crystallin protein: a cause of human inherited cataract. 15016766 2004