CATARACT 20, MULTIPLE TYPES
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
CATARACT 20, MULTIPLE TYPES
|
0.900 |
Biomarker
|
disease |
CTD_human |
|
|
|
CATARACT 20, MULTIPLE TYPES
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
CATARACT 20, MULTIPLE TYPES
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Cataract
|
0.480 |
Biomarker
|
disease |
HPO |
|
|
|
Pseudoaphakia
|
0.400 |
Biomarker
|
disease |
HPO |
|
|
|
Congenital cataract
|
0.350 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
CATARACT 20, MULTIPLE TYPES
|
0.900 |
Biomarker
|
disease |
MGD |
A comparison of the dominant cataract and recessive specific-locus mutation rates induced by treatment of male mice with ethylnitrosourea.
|
6877261 |
1983 |
Congenital cataract
|
0.350 |
Biomarker
|
disease |
MGD |
A comparison of the dominant cataract and recessive specific-locus mutation rates induced by treatment of male mice with ethylnitrosourea.
|
6877261 |
1983 |
CATARACT 20, MULTIPLE TYPES
|
0.900 |
Biomarker
|
disease |
MGD |
Two new cataract loci, Ccw and To3, and further mapping of the Npp and Opj cataracts in the mouse.
|
8812411 |
1996 |
Congenital cataract
|
0.350 |
Biomarker
|
disease |
MGD |
Two new cataract loci, Ccw and To3, and further mapping of the Npp and Opj cataracts in the mouse.
|
8812411 |
1996 |
CATARACT 20, MULTIPLE TYPES
|
0.900 |
Biomarker
|
disease |
MGD |
A temperature-sensitive mutation of Crygs in the murine Opj cataract.
|
11121426 |
2001 |
Congenital cataract
|
0.350 |
Biomarker
|
disease |
MGD |
A temperature-sensitive mutation of Crygs in the murine Opj cataract.
|
11121426 |
2001 |
CATARACT 20, MULTIPLE TYPES
|
0.900 |
Biomarker
|
disease |
MGD |
The gamma S-crystallin gene is mutated in autosomal recessive cataract in mouse.
|
12079281 |
2002 |
Congenital cataract
|
0.350 |
Biomarker
|
disease |
MGD |
The gamma S-crystallin gene is mutated in autosomal recessive cataract in mouse.
|
12079281 |
2002 |
CATARACT 20, MULTIPLE TYPES
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans.
|
16141006 |
2005 |
Cataract
|
0.480 |
Biomarker
|
disease |
CTD_human |
This report is the first description of a mutation in CRYGS with autosomal dominant cataract in humans.
|
16141006 |
2005 |
Pseudoaphakia
|
0.400 |
Biomarker
|
disease |
CTD_human |
Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans.
|
16141006 |
2005 |
Lens Opacities
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans.
|
16141006 |
2005 |
Cataract, Central Saccular, With Sutural Opacities
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans.
|
16141006 |
2005 |
Cortical cataract
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans.
|
16141006 |
2005 |
CATARACT, AUTOSOMAL DOMINANT
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
This report is the first description of a mutation in CRYGS with autosomal dominant cataract in humans.
|
16141006 |
2005 |
Cataract, Central Saccular, With Sutural Opacities
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
Crystallin gene mutations in Indian families with inherited pediatric cataract.
|
18587492 |
2008 |
Cataract
|
0.480 |
AlteredExpression
|
disease |
BEFREE |
Removal of Hsf4 leads to cataract development in mice through down-regulation of gamma S-crystallin and Bfsp expression.
|
19224648 |
2009 |
Cataract
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
The G18V CRYGS mutation associated with human cataracts increases gammaS-crystallin sensitivity to thermal and chemical stress.
|
19558189 |
2009 |