|
CATARACT 4, MULTIPLE TYPES
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel CRYGD mutation (p.Trp43Arg) causing autosomal dominant congenital cataract in a Chinese family.
|
21031598 |
2011 |
|
CATARACT 4, MULTIPLE TYPES
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Conversion and compensatory evolution of the gamma-crystallin genes and identification of a cataractogenic mutation that reverses the sequence of the human CRYGD gene to an ancestral state.
|
17564961 |
2007 |
|
CATARACT 4, MULTIPLE TYPES
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Two affected siblings with nuclear cataract associated with a novel missense mutation in the CRYGD gene.
|
16943771 |
2006 |
|
CATARACT 4, MULTIPLE TYPES
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Decrease in protein solubility and cataract formation caused by the Pro23 to Thr mutation in human gamma D-crystallin.
|
15709761 |
2005 |
|
CATARACT 4, MULTIPLE TYPES
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts.
|
12676897 |
2003 |
|
CATARACT 4, MULTIPLE TYPES
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital cataracts.
|
12011157 |
2002 |
|
CATARACT 4, MULTIPLE TYPES
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Crystal cataracts: human genetic cataract caused by protein crystallization.
|
11371638 |
2001 |
|
CATARACT 4, MULTIPLE TYPES
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Link between a novel human gammaD-crystallin allele and a unique cataract phenotype explained by protein crystallography.
|
10915766 |
2000 |
|
CATARACT 4, MULTIPLE TYPES
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular basis of a progressive juvenile-onset hereditary cataract.
|
10688888 |
2000 |
|
CATARACT 4, MULTIPLE TYPES
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The gamma-crystallins and human cataracts: a puzzle made clearer.
|
10521291 |
1999 |
|
CATARACT 4, MULTIPLE TYPES
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Progressive juvenile-onset punctate cataracts caused by mutation of the gammaD-crystallin gene.
|
9927684 |
1999 |
|
CATARACT 4, MULTIPLE TYPES
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
CATARACT, CRYSTALLINE ACULEIFORM
|
|
0.700 |
CausalMutation
|
CLINVAR |
Targeted Exome Sequencing of Congenital Cataracts Related Genes: Broadening the Mutation Spectrum and Genotype-Phenotype Correlations in 27 Chinese Han Families.
|
28450710 |
2017 |
|
CATARACT, CRYSTALLINE ACULEIFORM
|
|
0.700 |
CausalMutation
|
CLINVAR |
The cataract-associated R14C mutant of human gamma D-crystallin shows a variety of intermolecular disulfide cross-links: a Raman spectroscopic study.
|
19382745 |
2009 |
|
CATARACT, CRYSTALLINE ACULEIFORM
|
|
0.700 |
CausalMutation
|
CLINVAR |
A novel gammaD-crystallin mutation causes mild changes in protein properties but leads to congenital coralliform cataract.
|
19668596 |
2009 |
|
CATARACT, CRYSTALLINE ACULEIFORM
|
|
0.700 |
CausalMutation
|
CLINVAR |
A missense mutation in the gammaD-crystallin gene CRYGD associated with autosomal dominant congenital cataract in a Chinese family.
|
16446699 |
2006 |
|
CATARACT, CRYSTALLINE ACULEIFORM
|
|
0.700 |
CausalMutation
|
CLINVAR |
Molecular basis of a progressive juvenile-onset hereditary cataract.
|
10688888 |
2000 |
|
Cataract
|
|
0.010 |
GeneticVariation
|
BEFREE |
The Arg14 to Cys (R14C) mutation in the human gammaD-crystallin (HGD) gene has been associated with a juvenile-onset hereditary cataract.We showed previously [Pande, A., et al.(2000) Proc.Natl.Acad.Sci.
|
19382745 |
2009 |