CRYAA, crystallin alpha A, 1409

N. diseases: 40; N. variants: 18
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) 		0.010 GeneticVariation disease BEFREE This study identified a novel disease-causing mutation c.161 G > T (p.R54L) in CRYAA in a Chinese family with autosomal dominant nuclear cataracts, this is the first report relating a G > T mutation in CRYAA leading to congenital nuclear cataract. 24074001 2013