CRYBB1, crystallin beta B1, 1414

N. diseases: 30; N. variants: 6
Disease: Embryonal nuclear cataract (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0158551
Disease: Embryonal nuclear cataract (disorder)
Embryonal nuclear cataract (disorder) 		0.420 GeneticVariation disease BEFREE The S228P mutation in βB1-crystallin has been linked to autosomal dominant congenital nuclear cataract. 27318838 2016
CUI: C0158551
Disease: Embryonal nuclear cataract (disorder)
Embryonal nuclear cataract (disorder) 		0.420 GeneticVariation disease BEFREE This study has identified a novel nonsense mutation in CRYBB1 (p.Q223X) associated with autosomal dominant congenital nuclear cataract. 18432316 2008
CUI: C0158551
Disease: Embryonal nuclear cataract (disorder)
Embryonal nuclear cataract (disorder) 		0.420 Biomarker disease GENOMICS_ENGLAND
CUI: C0158551
Disease: Embryonal nuclear cataract (disorder)
Embryonal nuclear cataract (disorder) 		0.420 Biomarker disease HPO