CRYAA, crystallin alpha A, 1409

N. diseases: 40; N. variants: 18
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036646
Disease: Age-related cataract
Age-related cataract
0.030 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: C0036646
Disease: Age-related cataract
Age-related cataract
0.030 GeneticVariation disease BEFREE Polymorphism rs7278468 is associated with Age-related cataract through decreasing transcriptional activity of the CRYAA promoter. 26984531 2016
CUI: C0036646
Disease: Age-related cataract
Age-related cataract
0.030 PosttranslationalModification disease BEFREE DNA methylation was analyzed by pyrosequencing the CpG islands of the CRYAA promoter in the following groups: Age-Related Cataract (ARC) Nuclear Color (NC) 2-3; High-Myopic Cataract (HMC) NC2-3; ARC NC5-6; HMC NC5-6; and in young lenses graded NC1. 24312600 2013