CRYBA1, crystallin beta A1, 1411

N. diseases: 20; N. variants: 6
Disease: Cataract, Congenital Zonular, with Sutural Opacities ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1833229
Disease: Cataract, Congenital Zonular, with Sutural Opacities
Cataract, Congenital Zonular, with Sutural Opacities 		0.800 Biomarker disease GENOMICS_ENGLAND Establishment of a recessive mutant small-eye rat with lens involution and retinal detachment associated with partial deletion and rearrangement of the Cryba1 gene. 26303524 2015
CUI: C1833229
Disease: Cataract, Congenital Zonular, with Sutural Opacities
Cataract, Congenital Zonular, with Sutural Opacities 		0.800 CausalMutation disease CLINVAR Congenital polymorphic cataract associated with a G to A splice site mutation in the human beta-crystallin gene CRYβA3/A1. 22919269 2012
CUI: C1833229
Disease: Cataract, Congenital Zonular, with Sutural Opacities
Cataract, Congenital Zonular, with Sutural Opacities 		0.800 CausalMutation disease CLINVAR A G→T splice site mutation of CRYBA1/A3 associated with autosomal dominant suture cataracts in a Chinese family. 21850182 2011
CUI: C1833229
Disease: Cataract, Congenital Zonular, with Sutural Opacities
Cataract, Congenital Zonular, with Sutural Opacities 		0.800 CausalMutation disease CLINVAR A splice site mutation in CRYBA1/A3 causing autosomal dominant posterior polar cataract in a Chinese pedigree. 20142846 2010
CUI: C1833229
Disease: Cataract, Congenital Zonular, with Sutural Opacities
Cataract, Congenital Zonular, with Sutural Opacities 		0.800 GeneticVariation disease CLINVAR A deletion mutation in the betaA1/A3 crystallin gene ( CRYBA1/A3) is associated with autosomal dominant congenital nuclear cataract in a Chinese family. 14598164 2004
CUI: C1833229
Disease: Cataract, Congenital Zonular, with Sutural Opacities
Cataract, Congenital Zonular, with Sutural Opacities 		0.800 Biomarker disease GENOMICS_ENGLAND A deletion mutation in the betaA1/A3 crystallin gene ( CRYBA1/A3) is associated with autosomal dominant congenital nuclear cataract in a Chinese family. 14598164 2004
CUI: C1833229
Disease: Cataract, Congenital Zonular, with Sutural Opacities
Cataract, Congenital Zonular, with Sutural Opacities 		0.800 Biomarker disease MGD Mutation in the betaA3/A1-crystallin encoding gene Cryba1 causes a dominant cataract in the mouse. 10585769 1999
CUI: C1833229
Disease: Cataract, Congenital Zonular, with Sutural Opacities
Cataract, Congenital Zonular, with Sutural Opacities 		0.800 CausalMutation disease CLINVAR Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the betaA3/A1-crystallin gene. 9788845 1998
CUI: C1833229
Disease: Cataract, Congenital Zonular, with Sutural Opacities
Cataract, Congenital Zonular, with Sutural Opacities 		0.800 GeneticVariation disease CLINVAR Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the betaA3/A1-crystallin gene. 9788845 1998
CUI: C1833229
Disease: Cataract, Congenital Zonular, with Sutural Opacities
Cataract, Congenital Zonular, with Sutural Opacities 		0.800 Biomarker disease CTD_human
CUI: C1833229
Disease: Cataract, Congenital Zonular, with Sutural Opacities
Cataract, Congenital Zonular, with Sutural Opacities 		0.800 Biomarker disease GENOMICS_ENGLAND