×
Entrez Id:
2703
Gene Symbol:
GJA8
GJA8
Nuclear non-senile cataract
0.420
GermlineCausalMutation
ORPHANET
Molecular genetics of congenital nuclear cataract.
24384146
2014
×
Entrez Id:
2703
Gene Symbol:
GJA8
GJA8
Nuclear non-senile cataract
0.420
GermlineCausalMutation
ORPHANET
A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract.
14627691
2003
×
Entrez Id:
1420
Gene Symbol:
CRYGC
CRYGC
Nuclear non-senile cataract
0.400
GermlineCausalMutation
ORPHANET
Molecular genetics of congenital nuclear cataract.
24384146
2014
×
Entrez Id:
1414
Gene Symbol:
CRYBB1
CRYBB1
Nuclear non-senile cataract
0.400
GermlineCausalMutation
ORPHANET
Molecular genetics of congenital nuclear cataract.
24384146
2014
×
Entrez Id:
4810
Gene Symbol:
NHS
NHS
Nuclear non-senile cataract
0.400
GermlineCausalMutation
ORPHANET
Exome sequencing of 18 Chinese families with congenital cataracts: a new sight of the NHS gene.
24968223
2014
×
Entrez Id:
4284
Gene Symbol:
MIP
MIP
Nuclear non-senile cataract
0.400
GermlineCausalMutation
ORPHANET
Molecular genetics of congenital nuclear cataract.
24384146
2014
×
Entrez Id:
4810
Gene Symbol:
NHS
NHS
Nuclear non-senile cataract
0.400
GermlineCausalMutation
ORPHANET
Molecular genetics of congenital nuclear cataract.
24384146
2014
×
Entrez Id:
1417
Gene Symbol:
CRYBB3
CRYBB3
Nuclear non-senile cataract
0.400
GermlineCausalMutation
ORPHANET
Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.
23508780
2013
×
Entrez Id:
631
Gene Symbol:
BFSP1
BFSP1
Nuclear non-senile cataract
0.400
GermlineCausalMutation
ORPHANET
A novel beaded filament structural protein 1 (BFSP1) gene mutation associated with autosomal dominant congenital cataract in a Chinese family.
24379646
2013
×
Entrez Id:
7466
Gene Symbol:
WFS1
WFS1
Nuclear non-senile cataract
0.400
GermlineCausalMutation
ORPHANET
Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans.
23531866
2013
×
Entrez Id:
4284
Gene Symbol:
MIP
MIP
Nuclear non-senile cataract
0.400
GermlineCausalMutation
ORPHANET
A novel mutation in the MIP gene is associated with autosomal dominant congenital nuclear cataract in a Chinese family.
21647270
2011
×
Entrez Id:
4284
Gene Symbol:
MIP
MIP
Nuclear non-senile cataract
0.400
GermlineCausalMutation
ORPHANET
A novel mutation in MIP associated with congenital nuclear cataract in a Chinese family.
21245956
2011
×
Entrez Id:
4810
Gene Symbol:
NHS
NHS
Nuclear non-senile cataract
0.400
GermlineCausalMutation
ORPHANET
X-linked cataract and Nance-Horan syndrome are allelic disorders.
19414485
2009
×
Entrez Id:
1414
Gene Symbol:
CRYBB1
CRYBB1
Nuclear non-senile cataract
0.400
GermlineCausalMutation
ORPHANET
A novel nonsense mutation in CRYBB1 associated with autosomal dominant congenital cataract.
18432316
2008
×
Entrez Id:
1420
Gene Symbol:
CRYGC
CRYGC
Nuclear non-senile cataract
0.400
GermlineCausalMutation
ORPHANET
A nonsense mutation in CRYGC associated with autosomal dominant congenital nuclear cataract in a Chinese family.
18618005
2008
×
Entrez Id:
1414
Gene Symbol:
CRYBB1
CRYBB1
Nuclear non-senile cataract
0.400
GermlineCausalMutation
ORPHANET
Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract.
17460281
2007
×
Entrez Id:
1417
Gene Symbol:
CRYBB3
CRYBB3
Nuclear non-senile cataract
0.400
GermlineCausalMutation
ORPHANET
Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families.
15914629
2005
×
Entrez Id:
1421
Gene Symbol:
CRYGD
CRYGD
Nuclear non-senile cataract
0.320
GermlineCausalMutation
ORPHANET
A Novel Insertion Variant of CRYGD Is Associated with Congenital Nuclear Cataract in a Chinese Family.
26147294
2015
×
Entrez Id:
1409
Gene Symbol:
CRYAA
CRYAA
Nuclear non-senile cataract
0.320
GermlineCausalMutation
ORPHANET
Molecular genetics of congenital nuclear cataract.
24384146
2014
×
Entrez Id:
1421
Gene Symbol:
CRYGD
CRYGD
Nuclear non-senile cataract
0.320
GermlineCausalMutation
ORPHANET
Molecular genetics of congenital nuclear cataract.
24384146
2014
×
Entrez Id:
1409
Gene Symbol:
CRYAA
CRYAA
Nuclear non-senile cataract
0.320
GermlineCausalMutation
ORPHANET
A R54L mutation of CRYAA associated with autosomal dominant nuclear cataracts in a Chinese family.
24074001
2013
×
Entrez Id:
1421
Gene Symbol:
CRYGD
CRYGD
Nuclear non-senile cataract
0.320
GermlineCausalMutation
ORPHANET
A novel CRYGD mutation (p.Trp43Arg) causing autosomal dominant congenital cataract in a Chinese family.
21031598
2011
×
Entrez Id:
1409
Gene Symbol:
CRYAA
CRYAA
Nuclear non-senile cataract
0.320
GermlineCausalMutation
ORPHANET
Mutation analysis of CRYAA, CRYGC, and CRYGD associated with autosomal dominant congenital cataract in Brazilian families.
19390652
2009
×
Entrez Id:
1410
Gene Symbol:
CRYAB
CRYAB
Nuclear non-senile cataract
0.310
GermlineCausalMutation
ORPHANET
Phenotypes of Recessive Pediatric Cataract in a Cohort of Children with Identified Homozygous Gene Mutations (An American Ophthalmological Society Thesis).
26622071
2015
×
Entrez Id:
1415
Gene Symbol:
CRYBB2
CRYBB2
Nuclear non-senile cataract
0.310
GermlineCausalMutation
ORPHANET
Molecular genetics of congenital nuclear cataract.
24384146
2014