CRYAA, crystallin alpha A, 1409

N. diseases: 40; N. variants: 18
Disease: Bilateral cataracts (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		0.070 GeneticVariation disease BEFREE In this study, we screened for polymorphisms in crystallin alpha A (CRYAA) and alpha B (CRYAB) genes in 200 patients over 40 years of age, diagnosed with age-related cataract (ARC; nuclear and cortical cataracts). 28146420 2017
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		0.070 GeneticVariation disease BEFREE A R54L mutation of CRYAA associated with autosomal dominant nuclear cataracts in a Chinese family. 24074001 2013
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		0.070 GeneticVariation disease BEFREE A novel mutation in CRYAA is associated with autosomal dominant suture cataracts in a Chinese family. 23288997 2012
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		0.070 GeneticVariation disease BEFREE The present study identified a missense mutation (R116H) in the CRYAA gene that causes autosomal dominant congenital anterior polar cataracts in a Chinese family. 22065922 2011
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		0.070 GeneticVariation disease BEFREE This study identified a mutation in the CRYAA gene causing autosomal dominant nuclear cataracts and some patients show nystagmus or small blepharophimosis clinical features. 20465443 2010
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		0.070 GeneticVariation disease BEFREE It is expressed mainly in the lens - mutations in the Cryaa gene lead to recessive or dominant cataracts. 19007775 2009
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		0.070 GeneticVariation disease BEFREE Homologous recombination in embryonic stem cells was performed using a plasmid containing the C to T transition in exon 1 of the cryaa gene. alphaA-R49C heterozygosity led to early cataracts characterized by nuclear opacities. 18056999 2008