Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 128866
Gene Symbol: CHMP4B
CHMP4B
CUI: C0858617
Disease: Posterior subcapsular cataract
Posterior subcapsular cataract 		0.400 GermlineCausalMutation ORPHANET CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q. 17701905

2007
Entrez Id: 1969
Gene Symbol: EPHA2
EPHA2
CUI: C0858617
Disease: Posterior subcapsular cataract
Posterior subcapsular cataract 		0.310 GermlineCausalMutation ORPHANET A novel p.R890C mutation in EPHA2 gene associated with progressive childhood posterior cataract in a Chinese family. 23447127

2013
Entrez Id: 5309
Gene Symbol: PITX3
PITX3
CUI: C0858617
Disease: Posterior subcapsular cataract
Posterior subcapsular cataract 		0.310 GermlineCausalMutation ORPHANET A novel 1-bp deletion in PITX3 causing congenital posterior polar cataract. 21633712

2011
Entrez Id: 1969
Gene Symbol: EPHA2
EPHA2
CUI: C0858617
Disease: Posterior subcapsular cataract
Posterior subcapsular cataract 		0.310 GermlineCausalMutation ORPHANET Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract. 19306328

2009
Entrez Id: 5309
Gene Symbol: PITX3
PITX3
CUI: C0858617
Disease: Posterior subcapsular cataract
Posterior subcapsular cataract 		0.310 GermlineCausalMutation ORPHANET The PITX3 gene in posterior polar congenital cataract in Australia. 16636655

2006
Entrez Id: 55229
Gene Symbol: PANK4
PANK4
CUI: C0858617
Disease: Posterior subcapsular cataract
Posterior subcapsular cataract 		0.300 GermlineCausalMutation ORPHANET A novel mutation of PANK4 causes autosomal dominant congenital posterior cataract. 30585370

2019
Entrez Id: 4284
Gene Symbol: MIP
MIP
CUI: C0858617
Disease: Posterior subcapsular cataract
Posterior subcapsular cataract 		0.300 GermlineCausalMutation ORPHANET A novel nonsense mutation in the MIP gene linked to congenital posterior polar cataracts in a Chinese family. 25803033

2015
Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB
CUI: C0858617
Disease: Posterior subcapsular cataract
Posterior subcapsular cataract 		0.300 GermlineCausalMutation ORPHANET A novel P20R mutation in the alpha-B crystallin gene causes autosomal dominant congenital posterior polar cataracts in a Chinese family. 25195561

2014
Entrez Id: 1411
Gene Symbol: CRYBA1
CRYBA1
CUI: C0858617
Disease: Posterior subcapsular cataract
Posterior subcapsular cataract 		0.300 GermlineCausalMutation ORPHANET A splice site mutation in CRYBA1/A3 causing autosomal dominant posterior polar cataract in a Chinese pedigree. 20142846

2010
Entrez Id: 2700
Gene Symbol: GJA3
GJA3
CUI: C0858617
Disease: Posterior subcapsular cataract
Posterior subcapsular cataract 		0.300 GermlineCausalMutation ORPHANET Molecular analysis of cataract families in India: new mutations in the CRYBB2 and GJA3 genes and rare polymorphisms. 21031021

2010
Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB
CUI: C0858617
Disease: Posterior subcapsular cataract
Posterior subcapsular cataract 		0.300 GermlineCausalMutation ORPHANET Identification of a CRYAB mutation associated with autosomal dominant posterior polar cataract in a Chinese family. 16877416

2006