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: C1858679
Disease: CATARACT, AUTOSOMAL DOMINANT
CATARACT, AUTOSOMAL DOMINANT 		0.900 GeneticVariation disease UNIPROT Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21q. 14512969 2003
CUI: C1858679
Disease: CATARACT, AUTOSOMAL DOMINANT
CATARACT, AUTOSOMAL DOMINANT 		0.900 GeneticVariation disease UNIPROT Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes. 23508780 2013
CUI: C1858679
Disease: CATARACT, AUTOSOMAL DOMINANT
CATARACT, AUTOSOMAL DOMINANT 		0.900 GeneticVariation disease UNIPROT Clinical variability of autosomal dominant cataract, microcornea and corneal opacity and novel mutation in the alpha A crystallin gene (CRYAA). 18302245 2008
CUI: C1858679
Disease: CATARACT, AUTOSOMAL DOMINANT
CATARACT, AUTOSOMAL DOMINANT 		0.900 GeneticVariation disease UNIPROT Congenital cataract and macular hypoplasia in humans associated with a de novo mutation in CRYAA and compound heterozygous mutations in P. 16453125 2006
CUI: C1858679
Disease: CATARACT, AUTOSOMAL DOMINANT
CATARACT, AUTOSOMAL DOMINANT 		0.900 GeneticVariation disease UNIPROT Structural and functional changes in the alpha A-crystallin R116C mutant in hereditary cataracts. 11123904 2000
CUI: C1858679
Disease: CATARACT, AUTOSOMAL DOMINANT
CATARACT, AUTOSOMAL DOMINANT 		0.900 GeneticVariation disease UNIPROT A novel mutation in AlphaA-crystallin (CRYAA) caused autosomal dominant congenital cataract in a large Chinese family. 18407550 2008
CUI: C1858679
Disease: CATARACT, AUTOSOMAL DOMINANT
CATARACT, AUTOSOMAL DOMINANT 		0.900 GeneticVariation disease UNIPROT Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA. 9467006 1998
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 GeneticVariation disease BEFREE A novel mutation in the CRYAA gene associated with congenital cataract and microphthalmia in a Chinese family. 30340470 2018
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 GeneticVariation disease BEFREE Mutation analyses of CC candidate genes by next-generation sequencing (NGS) and Sanger sequencing revealed a novel missense mutation in CRYBB2 (p.V146L) and a deletion mutation in CRYAA (p.116_118del). 29259299 2017
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 GeneticVariation disease BEFREE A novel disease-causing mutation, c.246_248delCGC (p.117delR), of the CRYAA gene has been identified in a Chinese family with autosomal-type perinuclear congenital cataracts. 25729975 2015
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 GeneticVariation disease BEFREE The c.61C>T (p.R21W) mutation in CRYAA has been previously reported in a family with congenital cataract and microcornea. 23441109 2013
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 GeneticVariation disease BEFREE The current study extends those findings to the following crystallin genes involved in some congenital cataracts: CRYAA (R116C), CRYAB (R120G), and CRYGC (T5P). 12601044 2003
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 GeneticVariation disease BEFREE Two mutations at arginine 21 in the N-terminal domain of αA-crystallin - αA-R21L and αA-R21W have been associated with congenital cataract. 29782825 2018
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 GeneticVariation disease BEFREE TA of CRYAB gene might increase congenital cataract risk in children, while GCG of CRYAA gene and GC of CRYAB gene might decrease congenital cataract risk in children. 28640093 2017
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 GeneticVariation disease CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549 2016
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 GeneticVariation disease BEFREE Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA. 9467006 1998
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 GeneticVariation disease BEFREE Congenital cataract and macular hypoplasia in humans associated with a de novo mutation in CRYAA and compound heterozygous mutations in P. 16453125 2006
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract 		0.520 GeneticVariation disease BEFREE To our knowledge, this is the first case to date in which an Arg116Cys mutation in the CRYAA gene was associated with nuclear cataract and iris coloboma. 17296897 2007
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract 		0.520 GeneticVariation disease BEFREE The rest one, a heterozygous c.34C>T (p.Arg12Cys) mutation in CRYAA, was identified in three patients from a family with nuclear cataract, microcornea with axial elongation. 21686328 2011
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 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