Cataract, Zonular Pulverulent 1
|
0.930 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.
|
26694549 |
2016 |
Cataract, Zonular Pulverulent 1
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.
|
26694549 |
2016 |
Cataract, Zonular Pulverulent 1
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Structure-function correlation analysis of connexin50 missense mutations causing congenital cataract: electrostatic potential alteration could determine intracellular trafficking fate of mutants.
|
25003127 |
2014 |
Cataract, Zonular Pulverulent 1
|
0.930 |
GeneticVariation
|
disease |
BEFREE |
A novel connexin 50 gene (gap junction protein, alpha 8) mutation associated with congenital nuclear and zonular pulverulent cataract.
|
23592913 |
2013 |
Cataract, Zonular Pulverulent 1
|
0.930 |
GeneticVariation
|
disease |
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, Zonular Pulverulent 1
|
0.930 |
Biomarker
|
disease |
MGD |
Cataracts and microphthalmia caused by a Gja8 mutation in extracellular loop 2.
|
23300808 |
2012 |
Cataract, Zonular Pulverulent 1
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
Genetic linkage analyses and Cx50 mutation detection in a large multiplex Chinese family with hereditary nuclear cataract.
|
21174522 |
2011 |
Cataract, Zonular Pulverulent 1
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Different consequences of cataract-associated mutations at adjacent positions in the first extracellular boundary of connexin50.
|
21228318 |
2011 |
Cataract, Zonular Pulverulent 1
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
Another evidence for a D47N mutation in GJA8 associated with autosomal dominant congenital cataract.
|
21921990 |
2011 |
Cataract, Zonular Pulverulent 1
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts.
|
18006672 |
2008 |
Cataract, Zonular Pulverulent 1
|
0.930 |
Biomarker
|
disease |
RGD |
Microphthalmia and cataract in rats with a novel point mutation in connexin 50 - L7Q.
|
18470322 |
2008 |
Cataract, Zonular Pulverulent 1
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
A novel mutation in GJA8 associated with jellyfish-like cataract in a family of Indian origin.
|
18334946 |
2008 |
Cataract, Zonular Pulverulent 1
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea.
|
16604058 |
2006 |
Cataract, Zonular Pulverulent 1
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
Two novel mutations of connexin genes in Chinese families with autosomal dominant congenital nuclear cataract.
|
16234473 |
2005 |
Cataract, Zonular Pulverulent 1
|
0.930 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract.
|
14627691 |
2003 |
Cataract, Zonular Pulverulent 1
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract.
|
14627691 |
2003 |
Cataract, Zonular Pulverulent 1
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract.
|
11846744 |
2001 |
Cataract, Zonular Pulverulent 1
|
0.930 |
GeneticVariation
|
disease |
BEFREE |
Loci for autosomal dominant "zonular pulverulent" cataract have been mapped to chromosomes 1q (CZP1) and 13q (CZP3).
|
10205266 |
1999 |
Cataract, Zonular Pulverulent 1
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
"Connexin 50 mutation in a family with congenital ""zonular nuclear"" pulverulent cataract of Pakistani origin."
|
10480374 |
1999 |
Cataract, Zonular Pulverulent 1
|
0.930 |
GeneticVariation
|
disease |
BEFREE |
A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q.
|
9497259 |
1998 |
Cataract, Zonular Pulverulent 1
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
"A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant ""zonular pulverulent"" cataract, on chromosome 1q."
|
9497259 |
1998 |
Cataract, Zonular Pulverulent 1
|
0.930 |
Biomarker
|
disease |
MGD |
Targeted ablation of connexin50 in mice results in microphthalmia and zonular pulverulent cataracts.
|
9813099 |
1998 |
Cataract, Zonular Pulverulent 1
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Cataract, Zonular Pulverulent 1
|
0.930 |
Biomarker
|
disease |
CTD_human |
|
|
|
Cataract, Zonular Pulverulent 1
|
0.930 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|