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 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 CausalMutation disease CLINVAR 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 CausalMutation disease CLINVAR Quaternary structural parameters of the congenital cataract causing mutants of αA-crystallin. 22045060 2012
CUI: C1858679
Disease: CATARACT, AUTOSOMAL DOMINANT
CATARACT, AUTOSOMAL DOMINANT
0.900 CausalMutation disease CLINVAR Identification of the p. R116H mutation in a Chinese family with novel variable cataract phenotype: evidence for a mutational hot spot in αA-crystallin gene. 22216983 2012
CUI: C1858679
Disease: CATARACT, AUTOSOMAL DOMINANT
CATARACT, AUTOSOMAL DOMINANT
0.900 CausalMutation disease CLINVAR Mutations in human αA-crystallin/sHSP affect subunit exchange interaction with αB-crystallin. 22347476 2012
CUI: C1858679
Disease: CATARACT, AUTOSOMAL DOMINANT
CATARACT, AUTOSOMAL DOMINANT
0.900 CausalMutation disease CLINVAR Congenital cataract causing mutants of αA-crystallin/sHSP form aggregates and aggresomes degraded through ubiquitin-proteasome pathway. 22140512 2011
CUI: C1858679
Disease: CATARACT, AUTOSOMAL DOMINANT
CATARACT, AUTOSOMAL DOMINANT
0.900 CausalMutation disease CLINVAR Effects of congenital cataract mutation R116H on alphaA-crystallin structure, function and stability. 20079887 2010
CUI: C1858679
Disease: CATARACT, AUTOSOMAL DOMINANT
CATARACT, AUTOSOMAL DOMINANT
0.900 Biomarker disease MGD AlphaA-crystallin R49Cneo mutation influences the architecture of lens fiber cell membranes and causes posterior and nuclear cataracts in mice. 19619312 2009
CUI: C1858679
Disease: CATARACT, AUTOSOMAL DOMINANT
CATARACT, AUTOSOMAL DOMINANT
0.900 Biomarker disease GENOMICS_ENGLAND Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract. 19182255 2009
CUI: C1858679
Disease: CATARACT, AUTOSOMAL DOMINANT
CATARACT, AUTOSOMAL DOMINANT
0.900 CausalMutation disease CLINVAR An alphaA-crystallin gene mutation, Arg12Cys, causing inherited cataract-microcornea exhibits an altered heat-shock response. 19503744 2009
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 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 CausalMutation disease CLINVAR 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 Biomarker disease GENOMICS_ENGLAND 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 Biomarker disease MGD Mechanism of small heat shock protein function in vivo: a knock-in mouse model demonstrates that the R49C mutation in alpha A-crystallin enhances protein insolubility and cell death. 18056999 2008
CUI: C1858679
Disease: CATARACT, AUTOSOMAL DOMINANT
CATARACT, AUTOSOMAL DOMINANT
0.900 CausalMutation disease CLINVAR New phenotype associated with an Arg116Cys mutation in the CRYAA gene: nuclear cataract, iris coloboma, and microphthalmia. 17296897 2007
CUI: C1858679
Disease: CATARACT, AUTOSOMAL DOMINANT
CATARACT, AUTOSOMAL DOMINANT
0.900 CausalMutation disease CLINVAR Differential binding of mutant (R116C) and wildtype alphaA crystallin to actin. 18085469 2007
CUI: C1858679
Disease: CATARACT, AUTOSOMAL DOMINANT
CATARACT, AUTOSOMAL DOMINANT
0.900 CausalMutation disease CLINVAR Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8. 17724170 2007
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 CausalMutation disease CLINVAR A novel fan-shaped cataract-microcornea syndrome caused by a mutation of CRYAA in an Indian family. 16735993 2006
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 Biomarker disease MGD Reduced survival of lens epithelial cells in the alphaA-crystallin-knockout mouse. 12584250 2003
CUI: C1858679
Disease: CATARACT, AUTOSOMAL DOMINANT
CATARACT, AUTOSOMAL DOMINANT
0.900 Biomarker disease MGD Characterization of a new, dominant V124E mutation in the mouse alphaA-crystallin-encoding gene. 11687536 2001
CUI: C1858679
Disease: CATARACT, AUTOSOMAL DOMINANT
CATARACT, AUTOSOMAL DOMINANT
0.900 CausalMutation disease CLINVAR 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 Structural and functional changes in the alpha A-crystallin R116C mutant in hereditary cataracts. 11123904 2000