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: C0026010
Disease: Microphthalmos
Microphthalmos 		0.010 GeneticVariation disease BEFREE A novel mutation in the CRYAA gene associated with congenital cataract and microphthalmia in a Chinese family. 30340470 2018
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.010 Biomarker group BEFREE The small heat shock proteins, especially HspB4 and HspB5 are promising protectants in neurodegenerative diseases. 29425965 2018
CUI: C0271160
Disease: Cortical cataract
Cortical cataract 		0.010 GeneticVariation disease BEFREE In 6 patients (4 patients with nuclear cataract and 2 with cortical cataract), sequence analysis of the exon 1 in the CRYAA gene showed a silent single nucleotide polymorphism [D2D] (CRYAA: C to T transition). 28146420 2017
CUI: C1861821
Disease: CATARACT, MARNER TYPE
CATARACT, MARNER TYPE 		0.010 GeneticVariation disease BEFREE A novel 3-base pair deletion of the CRYAA gene identified in a large Chinese pedigree featuring autosomal dominant congenital perinuclear cataract. 25729975 2015
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
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		0.010 GeneticVariation disease LHGDN Clinical variability of autosomal dominant cataract, microcornea and corneal opacity and novel mutation in the alpha A crystallin gene (CRYAA). 18302245 2008
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.010 GeneticVariation group BEFREE Our studies on candidate genes of eye diseases in the Chinese population in Hong Kong include MYOC and TISR for primary open angle glaucoma, RHO and RP1 for retinitis pigmentosa, ABCA4 and APOE for age-related macular degeneration, RB1 for retinoblastoma, APC for familial adenomatous polyposis with congenital hypertrophy of retinal pigment epithelium, BIGH3/TGFBI for corneal dystrophies, PAX6 for aniridia and Reiger syndrome, CRYAA and CRYBB2 for cataracts, and mtDNA for Leber hereditary optic neuropathy. 11857735 2002
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: 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: 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: 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: 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 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: 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
CUI: C0002418
Disease: Amblyopia
Amblyopia 		0.100 Biomarker phenotype HPO
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		0.100 Biomarker disease HPO
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.100 Biomarker disease HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker disease HPO
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 Biomarker disease HPO