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
CUI: C0001857
Disease: AIDS related complex
AIDS related complex 		0.030 GeneticVariation disease BEFREE Thus, our data suggest that the T allele of rs7278468 in the CRYAA promoter is associated with ARC through increasing binding of KLF-10 and thus decreasing CRYAA transcription. 26984531 2016
CUI: C0001857
Disease: AIDS related complex
AIDS related complex 		0.030 PosttranslationalModification disease BEFREE CpG islands in lens epithelial CRYAA promoter in the HMC NC5-6 Group exhibited the highest methylation of all the groups, but no statistically significant differences were evident between the HMC NC2-3 and ARC NC2-3 Groups. 24312600 2013
CUI: C0001857
Disease: AIDS related complex
AIDS related complex 		0.030 Biomarker disease BEFREE To assess the potential contribution of epigenetic regulation of CRYAA genes relevant to ARC pathogenesis, we evaluated DNA methylation, a tissue-specific genetic modulation that affects gene expression. 22889833 2012
CUI: C0002418
Disease: Amblyopia
Amblyopia 		0.100 Biomarker phenotype HPO
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.300 Biomarker group CTD_human Posttranslational modification of differentially expressed mitochondrial proteins in the retina during early experimental autoimmune uveitis. 21850155 2011
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 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
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 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 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: C0086543
Disease: Cataract
Cataract 		0.500 GeneticVariation disease BEFREE A nonsense mutation in the CRYAA gene causes autosomal recessive cataract in one family. 11006246 2000
CUI: C0086543
Disease: Cataract
Cataract 		0.500 GeneticVariation disease LHGDN Cataract mutation P20S of alphaB-crystallin impairs chaperone activity of alphaA-crystallin and induces apoptosis of human lens epithelial cells. 18343237 2008
CUI: C0086543
Disease: Cataract
Cataract 		0.500 GeneticVariation disease BEFREE Mutations in GJA8 and CRYAA were identified in three families with cataract and microcornea. 21686328 2011
CUI: C0086543
Disease: Cataract
Cataract 		0.500 Biomarker disease BEFREE Blood was taken from the proband and his parents, genomic DNA was isolated and some candidate genes for cataract (CRYAA, CRYBB2, GJA8) or macular hypoplasia (OA1, P) or both (PAX6) were analyzed. 16453125 2006
CUI: C0086543
Disease: Cataract
Cataract 		0.500 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: C0086543
Disease: Cataract
Cataract 		0.500 GeneticVariation disease BEFREE Non-syndromic, hereditary human cataract development is linked to point mutations in the CRYAA and CRYAB genes which encode alphaA and alphaB-crystallin. 19860667 2009
CUI: C0086543
Disease: Cataract
Cataract 		0.500 GeneticVariation disease BEFREE The most promising compound improved lens transparency in the R49C cryAA and R120G cryAB mouse models of hereditary cataract. 26542570 2015
CUI: C0086543
Disease: Cataract
Cataract 		0.500 GeneticVariation disease LHGDN Recessive congenital total cataract with microcornea and heterozygote carrier signs caused by a novel missense CRYAA mutation (R54C). 17937925 2007
CUI: C0086543
Disease: Cataract
Cataract 		0.500 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: C0086543
Disease: Cataract
Cataract 		0.500 GeneticVariation disease BEFREE It is expressed mainly in the lens - mutations in the Cryaa gene lead to recessive or dominant cataracts. 19007775 2009