Source: ORPHANET

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 A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract. 14627691

2003
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: 2700
Gene Symbol: GJA3
GJA3
CUI: C1112705
Disease: Nuclear non-senile cataract
Nuclear non-senile cataract 		0.300 GermlineCausalMutation ORPHANET Two novel mutations of connexin genes in Chinese families with autosomal dominant congenital nuclear cataract. 16234473

2005
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: 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: 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: 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: 1410
Gene Symbol: CRYAB
CRYAB
CUI: C1112705
Disease: Nuclear non-senile cataract
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: 1415
Gene Symbol: CRYBB2
CRYBB2
CUI: C1112705
Disease: Nuclear non-senile cataract
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: 2700
Gene Symbol: GJA3
GJA3
CUI: C1112705
Disease: Nuclear non-senile cataract
Nuclear non-senile cataract 		0.300 GermlineCausalMutation ORPHANET Mutation analysis of congenital cataract in a Chinese family identified a novel missense mutation in the connexin 46 gene (GJA3). 20431721

2010
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: 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: 2700
Gene Symbol: GJA3
GJA3
CUI: C1112705
Disease: Nuclear non-senile cataract
Nuclear non-senile cataract 		0.300 GermlineCausalMutation ORPHANET A novel mutation in the GJA3 (connexin46) gene is associated with autosomal dominant congenital nuclear cataract in a Chinese family. 21552498

2011
Entrez Id: 79443
Gene Symbol: FYCO1
FYCO1
CUI: C1112705
Disease: Nuclear non-senile cataract
Nuclear non-senile cataract 		0.300 GermlineCausalMutation ORPHANET Mutations in FYCO1 cause autosomal-recessive congenital cataracts. 21636066

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 the MIP gene is associated with autosomal dominant congenital nuclear cataract in a Chinese family. 21647270

2011
Entrez Id: 1411
Gene Symbol: CRYBA1
CRYBA1
CUI: C1112705
Disease: Nuclear non-senile cataract
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: 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: 1412
Gene Symbol: CRYBA2
CRYBA2
CUI: C1112705
Disease: Nuclear non-senile cataract
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: 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: 1969
Gene Symbol: EPHA2
EPHA2
CUI: C1112705
Disease: Nuclear non-senile cataract
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: 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: 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: 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: 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