Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2703
Gene Symbol: GJA8
GJA8
CUI: C1112705
Disease: Nuclear non-senile cataract
Nuclear non-senile cataract
0.420 GermlineCausalMutation ORPHANET Molecular genetics of congenital nuclear cataract. 24384146

2014

Entrez Id: 2703
Gene Symbol: GJA8
GJA8
CUI: C1112705
Disease: Nuclear non-senile cataract
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
CUI: C1112705
Disease: Nuclear non-senile cataract
Nuclear non-senile cataract
0.400 GermlineCausalMutation ORPHANET Molecular genetics of congenital nuclear cataract. 24384146

2014

Entrez Id: 1414
Gene Symbol: CRYBB1
CRYBB1
CUI: C1112705
Disease: Nuclear non-senile cataract
Nuclear non-senile cataract
0.400 GermlineCausalMutation ORPHANET Molecular genetics of congenital nuclear cataract. 24384146

2014

Entrez Id: 4810
Gene Symbol: NHS
NHS
CUI: C1112705
Disease: Nuclear non-senile cataract
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
CUI: C1112705
Disease: Nuclear non-senile cataract
Nuclear non-senile cataract
0.400 GermlineCausalMutation ORPHANET Molecular genetics of congenital nuclear cataract. 24384146

2014

Entrez Id: 4810
Gene Symbol: NHS
NHS
CUI: C1112705
Disease: Nuclear non-senile cataract
Nuclear non-senile cataract
0.400 GermlineCausalMutation ORPHANET Molecular genetics of congenital nuclear cataract. 24384146

2014

Entrez Id: 1417
Gene Symbol: CRYBB3
CRYBB3
CUI: C1112705
Disease: Nuclear non-senile cataract
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
CUI: C1112705
Disease: Nuclear non-senile cataract
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
CUI: C1112705
Disease: Nuclear non-senile cataract
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
CUI: C1112705
Disease: Nuclear non-senile cataract
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
CUI: C1112705
Disease: Nuclear non-senile cataract
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
CUI: C1112705
Disease: Nuclear non-senile cataract
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
CUI: C1112705
Disease: Nuclear non-senile cataract
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
CUI: C1112705
Disease: Nuclear non-senile cataract
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
CUI: C1112705
Disease: Nuclear non-senile cataract
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
CUI: C1112705
Disease: Nuclear non-senile cataract
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
CUI: C1112705
Disease: Nuclear non-senile cataract
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
CUI: C1112705
Disease: Nuclear non-senile cataract
Nuclear non-senile cataract
0.320 GermlineCausalMutation ORPHANET Molecular genetics of congenital nuclear cataract. 24384146

2014

Entrez Id: 1421
Gene Symbol: CRYGD
CRYGD
CUI: C1112705
Disease: Nuclear non-senile cataract
Nuclear non-senile cataract
0.320 GermlineCausalMutation ORPHANET Molecular genetics of congenital nuclear cataract. 24384146

2014

Entrez Id: 1409
Gene Symbol: CRYAA
CRYAA
CUI: C1112705
Disease: Nuclear non-senile cataract
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
CUI: C1112705
Disease: Nuclear non-senile cataract
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
CUI: C1112705
Disease: Nuclear non-senile cataract
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
CUI: C1112705
Disease: Nuclear non-senile cataract
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
CUI: C1112705
Disease: Nuclear non-senile cataract
Nuclear non-senile cataract
0.310 GermlineCausalMutation ORPHANET Molecular genetics of congenital nuclear cataract. 24384146

2014