CRYAA, crystallin alpha A, 1409

N. diseases: 40; N. variants: 18
Disease: CATARACT, AUTOSOMAL DOMINANT ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515624
rs397515624
Entrez Id: 1409;107987300
Gene Symbol: CRYAA;LOC107987300
CRYAA;LOC107987300
CUI: C1858679
Disease:
CATARACT, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes. 23508780 2013
dbSNP: rs397515624
rs397515624
Entrez Id: 1409;107987300
Gene Symbol: CRYAA;LOC107987300
CRYAA;LOC107987300
CUI: C1858679
Disease:
CATARACT, AUTOSOMAL DOMINANT 		T 0.800 CausalMutation CLINVAR Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes. 23508780 2013
dbSNP: rs397515624
rs397515624
Entrez Id: 1409;107987300
Gene Symbol: CRYAA;LOC107987300
CRYAA;LOC107987300
CUI: C1858679
Disease:
CATARACT, AUTOSOMAL DOMINANT 		T 0.800 CausalMutation CLINVAR Mutations in human αA-crystallin/sHSP affect subunit exchange interaction with αB-crystallin. 22347476 2012
dbSNP: rs397515624
rs397515624
Entrez Id: 1409;107987300
Gene Symbol: CRYAA;LOC107987300
CRYAA;LOC107987300
CUI: C1858679
Disease:
CATARACT, AUTOSOMAL DOMINANT 		T 0.800 CausalMutation CLINVAR Quaternary structural parameters of the congenital cataract causing mutants of αA-crystallin. 22045060 2012
dbSNP: rs397515624
rs397515624
Entrez Id: 1409;107987300
Gene Symbol: CRYAA;LOC107987300
CRYAA;LOC107987300
CUI: C1858679
Disease:
CATARACT, AUTOSOMAL DOMINANT 		T 0.800 CausalMutation CLINVAR Congenital cataract causing mutants of αA-crystallin/sHSP form aggregates and aggresomes degraded through ubiquitin-proteasome pathway. 22140512 2011
dbSNP: rs397515624
rs397515624
Entrez Id: 1409;107987300
Gene Symbol: CRYAA;LOC107987300
CRYAA;LOC107987300
CUI: C1858679
Disease:
CATARACT, AUTOSOMAL DOMINANT 		T 0.800 CausalMutation CLINVAR An alphaA-crystallin gene mutation, Arg12Cys, causing inherited cataract-microcornea exhibits an altered heat-shock response. 19503744 2009
dbSNP: rs397515624
rs397515624
Entrez Id: 1409;107987300
Gene Symbol: CRYAA;LOC107987300
CRYAA;LOC107987300
CUI: C1858679
Disease:
CATARACT, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT Clinical variability of autosomal dominant cataract, microcornea and corneal opacity and novel mutation in the alpha A crystallin gene (CRYAA). 18302245 2008
dbSNP: rs397515624
rs397515624
Entrez Id: 1409;107987300
Gene Symbol: CRYAA;LOC107987300
CRYAA;LOC107987300
CUI: C1858679
Disease:
CATARACT, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT A novel mutation in AlphaA-crystallin (CRYAA) caused autosomal dominant congenital cataract in a large Chinese family. 18407550 2008
dbSNP: rs397515624
rs397515624
Entrez Id: 1409;107987300
Gene Symbol: CRYAA;LOC107987300
CRYAA;LOC107987300
CUI: C1858679
Disease:
CATARACT, AUTOSOMAL DOMINANT 		T 0.800 CausalMutation CLINVAR Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8. 17724170 2007
dbSNP: rs397515624
rs397515624
Entrez Id: 1409;107987300
Gene Symbol: CRYAA;LOC107987300
CRYAA;LOC107987300
CUI: C1858679
Disease:
CATARACT, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT Congenital cataract and macular hypoplasia in humans associated with a de novo mutation in CRYAA and compound heterozygous mutations in P. 16453125 2006
dbSNP: rs397515624
rs397515624
Entrez Id: 1409;107987300
Gene Symbol: CRYAA;LOC107987300
CRYAA;LOC107987300
CUI: C1858679
Disease:
CATARACT, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21q. 14512969 2003
dbSNP: rs397515624
rs397515624
Entrez Id: 1409;107987300
Gene Symbol: CRYAA;LOC107987300
CRYAA;LOC107987300
CUI: C1858679
Disease:
CATARACT, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT Structural and functional changes in the alpha A-crystallin R116C mutant in hereditary cataracts. 11123904 2000
dbSNP: rs397515624
rs397515624
Entrez Id: 1409;107987300
Gene Symbol: CRYAA;LOC107987300
CRYAA;LOC107987300
CUI: C1858679
Disease:
CATARACT, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA. 9467006 1998