Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB
CUI: C1112705
Disease: Nuclear non-senile cataract
Nuclear non-senile cataract 		0.310 GermlineCausalMutation ORPHANET Molecular genetics of congenital nuclear cataract. 24384146

2014
Entrez Id: 1411
Gene Symbol: CRYBA1
CRYBA1
CUI: C1112705
Disease: Nuclear non-senile cataract
Nuclear non-senile cataract 		0.310 GermlineCausalMutation ORPHANET Molecular genetics of congenital nuclear cataract. 24384146

2014
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: 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: 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: 146862
Gene Symbol: UNC45B
UNC45B
CUI: C1112705
Disease: Nuclear non-senile cataract
Nuclear non-senile cataract 		0.300 GermlineCausalMutation ORPHANET The myosin chaperone UNC45B is involved in lens development and autosomal dominant juvenile cataract. 24549050

2014
Entrez Id: 79443
Gene Symbol: FYCO1
FYCO1
CUI: C1112705
Disease: Nuclear non-senile cataract
Nuclear non-senile cataract 		0.300 GermlineCausalMutation ORPHANET Molecular genetics of congenital nuclear cataract. 24384146

2014
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: 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: 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: 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