|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
CATARACT, AUTOSOMAL DOMINANT
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Structural and functional changes in the alpha A-crystallin R116C mutant in hereditary cataracts.
|
11123904 |
2000 |
|
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 |
|
CATARACT, AUTOSOMAL DOMINANT
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
Microphthalmos
|
|
0.010 |
GeneticVariation
|
BEFREE |
New phenotype associated with an Arg116Cys mutation in the CRYAA gene: nuclear cataract, iris coloboma, and microphthalmia.
|
17296897 |
2007 |
|
Nuclear cataract
|
|
0.010 |
GeneticVariation
|
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 |
|
Congenital coloboma of iris
|
|
0.010 |
GeneticVariation
|
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 |
|
Coloboma of iris
|
|
0.010 |
GeneticVariation
|
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 |
|
Nuclear non-senile cataract
|
|
0.010 |
GeneticVariation
|
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 |
|
Congenital cataract
|
|
0.010 |
GeneticVariation
|
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 |