×
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:
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:
1409
Gene Symbol:
CRYAA
CRYAA
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:
1410
Gene Symbol:
CRYAB
CRYAB
Nuclear non-senile cataract
0.310
GermlineCausalMutation
ORPHANET
Molecular genetics of congenital nuclear cataract.
24384146
2014
×
Entrez Id:
1410
Gene Symbol:
CRYAB
CRYAB
Nuclear non-senile cataract
0.310
GermlineCausalMutation
ORPHANET
A novel mutation in CRYAB associated with autosomal dominant congenital nuclear cataract in a Chinese family.
19597569
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:
1411
Gene Symbol:
CRYBA1
CRYBA1
Nuclear non-senile cataract
0.310
GermlineCausalMutation
ORPHANET
Molecular genetics of congenital nuclear cataract.
24384146
2014
×
Entrez Id:
1411
Gene Symbol:
CRYBA1
CRYBA1
Nuclear non-senile cataract
0.310
GermlineCausalMutation
ORPHANET
A recurrent mutation in CRYBA1 is associated with an autosomal dominant congenital nuclear cataract disease in a Chinese family.
21686330
2011
×
Entrez Id:
1412
Gene Symbol:
CRYBA2
CRYBA2
Nuclear non-senile cataract
0.300
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:
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:
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:
1414
Gene Symbol:
CRYBB1
CRYBB1
Nuclear non-senile cataract
0.400
GermlineCausalMutation
ORPHANET
Molecular genetics of congenital nuclear cataract.
24384146
2014
×
Entrez Id:
1415
Gene Symbol:
CRYBB2
CRYBB2
Nuclear non-senile cataract
0.310
GermlineCausalMutation
ORPHANET
Molecular genetics of congenital nuclear cataract.
24384146
2014
×
Entrez Id:
1415
Gene Symbol:
CRYBB2
CRYBB2
Nuclear non-senile cataract
0.310
GermlineCausalMutation
ORPHANET
Mutation analysis of congenital cataract in a Basotho family identified a new missense allele in CRYBB2.
19649175
2009
×
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:
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:
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:
1420
Gene Symbol:
CRYGC
CRYGC
Nuclear non-senile cataract
0.400
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
A Novel Insertion Variant of CRYGD Is Associated with Congenital Nuclear Cataract in a Chinese Family.
26147294
2015
×
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:
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:
1969
Gene Symbol:
EPHA2
EPHA2
Nuclear non-senile cataract
0.310
GermlineCausalMutation
ORPHANET
Mutations in the EPHA2 gene are a major contributor to inherited cataracts in South-Eastern Australia.
24014202
2013
×
Entrez Id:
79443
Gene Symbol:
FYCO1
FYCO1
Nuclear non-senile cataract
0.300
GermlineCausalMutation
ORPHANET
Molecular genetics of congenital nuclear cataract.
24384146
2014
×
Entrez Id:
79443
Gene Symbol:
FYCO1
FYCO1
Nuclear non-senile cataract
0.300
GermlineCausalMutation
ORPHANET
Mutations in FYCO1 cause autosomal-recessive congenital cataracts.
21636066
2011