CATARACT, COPPOCK-LIKE
|
0.820 |
CausalMutation
|
disease |
CLINVAR |
Novel mutations in CRYGC are associated with congenital cataracts in Chinese families.
|
28298635 |
2017 |
CATARACT, COPPOCK-LIKE
|
0.820 |
GermlineCausalMutation
|
disease |
ORPHANET |
A CRYGC gene mutation associated with autosomal dominant pulverulent cataract.
|
23954869 |
2013 |
CATARACT, COPPOCK-LIKE
|
0.820 |
CausalMutation
|
disease |
CLINVAR |
A novel nonsense mutation in CRYGC is associated with autosomal dominant congenital nuclear cataracts and microcornea.
|
19204787 |
2009 |
CATARACT, COPPOCK-LIKE
|
0.820 |
GeneticVariation
|
disease |
BEFREE |
The human lens crystallin gene CRYGC T5P is associated with Coppock-like cataract and has a phenotype of a dust-like opacity of the fetal lens nucleus and deep cortical region.
|
18926820 |
2008 |
CATARACT, COPPOCK-LIKE
|
0.820 |
Biomarker
|
disease |
MGD |
A 6-bp deletion in the Crygc gene leading to a nuclear and radial cataract in the mouse.
|
11773036 |
2002 |
CATARACT, COPPOCK-LIKE
|
0.820 |
GermlineCausalMutation
|
disease |
ORPHANET |
A 5-base insertion in the gammaC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract.
|
10914683 |
2000 |
CATARACT, COPPOCK-LIKE
|
0.820 |
GeneticVariation
|
disease |
BEFREE |
Further analysis of the original Coppock-like-cataract family identified a missense mutation in a highly conserved segment of exon 2 of CRYGC.
|
10521291 |
1999 |
CATARACT, COPPOCK-LIKE
|
0.820 |
Biomarker
|
disease |
CTD_human |
|
|
|
CATARACT 2, MULTIPLE TYPES
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.
|
24281366 |
2014 |
CATARACT 2, MULTIPLE TYPES
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
A novel mutation impairing the tertiary structure and stability of γC-crystallin (CRYGC) leads to cataract formation in humans and zebrafish lens.
|
22052681 |
2012 |
CATARACT 2, MULTIPLE TYPES
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
A nonsense mutation of CRYGC associated with autosomal dominant congenital nuclear cataracts and microcornea in a Chinese pedigree.
|
22876111 |
2012 |
CATARACT 2, MULTIPLE TYPES
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Crystallin gene mutations in Indian families with inherited pediatric cataract.
|
18587492 |
2008 |
CATARACT 2, MULTIPLE TYPES
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Alteration of protein-protein interactions of congenital cataract crystallin mutants.
|
12601044 |
2003 |
CATARACT 2, MULTIPLE TYPES
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital cataracts.
|
12011157 |
2002 |
CATARACT 2, MULTIPLE TYPES
|
0.800 |
Biomarker
|
disease |
MGD |
A 6-bp deletion in the Crygc gene leading to a nuclear and radial cataract in the mouse.
|
11773036 |
2002 |
CATARACT 2, MULTIPLE TYPES
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A 5-base insertion in the gammaC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract.
|
10914683 |
2000 |
CATARACT 2, MULTIPLE TYPES
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
A 5-base insertion in the gammaC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract.
|
10914683 |
2000 |
CATARACT 2, MULTIPLE TYPES
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
The gamma-crystallins and human cataracts: a puzzle made clearer.
|
10521291 |
1999 |
CATARACT 2, MULTIPLE TYPES
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
CATARACT 2, MULTIPLE TYPES
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Cataract
|
0.460 |
GeneticVariation
|
disease |
BEFREE |
Taken together, these results indicate that a novel γC-crystallin p.Gly129Cys mutation impaired the tertiary structure of the protein and caused cataract formation, which provides a new insight into how the mutation may affect the γC-crystallin structure, stability, and function.
|
22052681 |
2012 |
Cataract
|
0.460 |
GeneticVariation
|
disease |
BEFREE |
The p.R48H variation in γC-crystallin may disrupt the normal structure of lens and can cause cataract.
|
21423869 |
2011 |
Cataract
|
0.460 |
GeneticVariation
|
disease |
LHGDN |
The present study has identified a novel nonsense mutation in CRYGC associated with autosomal dominant cataracts and microcornea in a Chinese family.
|
19204787 |
2009 |
Cataract
|
0.460 |
GeneticVariation
|
disease |
BEFREE |
The present study has identified a novel nonsense mutation in CRYGC associated with autosomal dominant cataracts and microcornea in a Chinese family.
|
19204787 |
2009 |
Cataract
|
0.460 |
GeneticVariation
|
disease |
LHGDN |
A novel nonsense mutation in CRYGC was detected in a Chinese family with consistent autosomal dominant congenital nuclear cataract, providing clear evidence of a relationship between the genotype and the corresponding cataract phenotype.
|
18618005 |
2008 |