|
Cataract, Zonular Pulverulent 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Alterations at Arg76 of human connexin 46, a residue associated with cataract formation, cause loss of gap junction formation but preserve hemichannel function.
|
30044662 |
2018 |
|
Cataract, Zonular Pulverulent 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Identification of a GJA3 Mutation in a Large Family with Bilateral Congenital Cataract.
|
26683566 |
2016 |
|
Cataract, Zonular Pulverulent 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Identification of a novel GJA3 mutation in congenital nuclear cataract.
|
25635993 |
2015 |
|
Cataract, Zonular Pulverulent 3
|
0.900 |
Biomarker
|
disease |
MGD |
Connexin46fs380 causes progressive cataracts.
|
25103261 |
2014 |
|
Cataract, Zonular Pulverulent 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Identification of a GJA3 mutation in a Chinese family with congenital nuclear cataract using exome sequencing.
|
24772942 |
2013 |
|
Cataract, Zonular Pulverulent 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Coralliform cataract caused by a novel connexin46 (GJA3) mutation in a Chinese family.
|
22312188 |
2012 |
|
Cataract, Zonular Pulverulent 3
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Coralliform cataract caused by a novel connexin46 (GJA3) mutation in a Chinese family.
|
22312188 |
2012 |
|
Cataract, Zonular Pulverulent 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
A novel GJA3 mutation associated with congenital nuclear pulverulent and posterior polar cataract in a Chinese family.
|
21681855 |
2011 |
|
Cataract, Zonular Pulverulent 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
A novel mutation in the GJA3 (connexin46) gene is associated with autosomal dominant congenital nuclear cataract in a Chinese family.
|
21552498 |
2011 |
|
Cataract, Zonular Pulverulent 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
A novel mutation in the connexin 46 (GJA3) gene associated with congenital cataract in a Chinese pedigree.
|
21647269 |
2011 |
|
Cataract, Zonular Pulverulent 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
A recurrent missense mutation in GJA3 associated with autosomal dominant cataract linked to chromosome 13q.
|
21897748 |
2011 |
|
Cataract, Zonular Pulverulent 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Mutation analysis of congenital cataract in a Chinese family identified a novel missense mutation in the connexin 46 gene (GJA3).
|
20431721 |
2010 |
|
Cataract, Zonular Pulverulent 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
A novel mutation in the connexin 46 (GJA3) gene associated with autosomal dominant congenital cataract in an Indian family.
|
17893674 |
2007 |
|
Cataract, Zonular Pulverulent 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
"A novel ""pearl box"" cataract associated with a mutation in the connexin 46 (GJA3) gene."
|
17615540 |
2007 |
|
Cataract, Zonular Pulverulent 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
"The congenital ""ant-egg"" cataract phenotype is caused by a missense mutation in connexin46."
|
16971895 |
2006 |
|
Cataract, Zonular Pulverulent 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
A novel mutation in the connexin 46 gene (GJA3) causes autosomal dominant zonular pulverulent cataract in a Hispanic family.
|
16885921 |
2006 |
|
Cataract, Zonular Pulverulent 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Novel mutations in GJA3 associated with autosomal dominant congenital cataract in the Indian population.
|
16254549 |
2005 |
|
Cataract, Zonular Pulverulent 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Two novel mutations of connexin genes in Chinese families with autosomal dominant congenital nuclear cataract.
|
16234473 |
2005 |
|
Cataract, Zonular Pulverulent 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance.
|
15286166 |
2004 |
|
Cataract, Zonular Pulverulent 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
A novel connexin46 (GJA3) mutation in autosomal dominant congenital nuclear pulverulent cataract.
|
15448617 |
2004 |
|
Cataract, Zonular Pulverulent 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
"A novel missense mutation in the gene for gap-junction protein alpha3 (GJA3) associated with autosomal dominant ""nuclear punctate"" cataracts linked to chromosome 13q."
|
15208569 |
2004 |
|
Cataract, Zonular Pulverulent 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
A novel mutation in GJA3 (connexin46) for autosomal dominant congenital nuclear pulverulent cataract.
|
14627959 |
2003 |
|
Cataract, Zonular Pulverulent 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3).
|
10746562 |
2000 |
|
Cataract, Zonular Pulverulent 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Connexin46 mutations in autosomal dominant congenital cataract.
|
10205266 |
1999 |
|
Cataract, Zonular Pulverulent 3
|
0.900 |
Biomarker
|
disease |
CTD_human |
|
|
|