|
CATARACT, AUTOSOMAL DOMINANT
|
0.900 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
CATARACT, AUTOSOMAL DOMINANT
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
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 |
|
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 |
|
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 |
|
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 |
|
CATARACT, AUTOSOMAL DOMINANT
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA.
|
9467006 |
1998 |
|
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 |
|
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 |
|
CATARACT, AUTOSOMAL DOMINANT
|
0.900 |
Biomarker
|
disease |
MGD |
Characterization of a new, dominant V124E mutation in the mouse alphaA-crystallin-encoding gene.
|
11687536 |
2001 |
|
CATARACT, AUTOSOMAL DOMINANT
|
0.900 |
Biomarker
|
disease |
MGD |
Chromosomal localization of a new mouse lens opacity gene (lop18)
|
8812430 |
1996 |
|
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 |
|
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 |
|
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 |
|
CATARACT, AUTOSOMAL DOMINANT
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract.
|
19182255 |
2009 |
|
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 |
|
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 |
|
CATARACT, AUTOSOMAL DOMINANT
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Differential binding of mutant (R116C) and wildtype alphaA crystallin to actin.
|
18085469 |
2007 |
|
CATARACT, AUTOSOMAL DOMINANT
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Effects of congenital cataract mutation R116H on alphaA-crystallin structure, function and stability.
|
20079887 |
2010 |
|
CATARACT, AUTOSOMAL DOMINANT
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.
|
17724170 |
2007 |
|
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 |
|
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 |
|
CATARACT, AUTOSOMAL DOMINANT
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Mutation of R116C results in highly oligomerized alpha A-crystallin with modified structure and defective chaperone-like function.
|
10684623 |
2000 |
|
CATARACT, AUTOSOMAL DOMINANT
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Mutations in human αA-crystallin/sHSP affect subunit exchange interaction with αB-crystallin.
|
22347476 |
2012 |
|
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 |