Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 128866
Gene Symbol: CHMP4B
CHMP4B 		0.400 GermlineCausalMutation disease ORPHANET CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q. 17701905 2007
Entrez Id: 128866
Gene Symbol: CHMP4B
CHMP4B 		0.400 Biomarker disease HPO
Entrez Id: 5309
Gene Symbol: PITX3
PITX3 		0.310 GeneticVariation disease BEFREE A novel mutation in the OAR domain of PITX3 associated with congenital posterior subcapsular cataract. 30894134 2019
Entrez Id: 1969
Gene Symbol: EPHA2
EPHA2 		0.310 GeneticVariation disease BEFREE Our study presented the evidence for a novel EPHA2 kinase domain mutation that causes congenital posterior subcapsular cataracts. 31725171 2019
Entrez Id: 1969
Gene Symbol: EPHA2
EPHA2 		0.310 GermlineCausalMutation disease 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 		0.310 GermlineCausalMutation disease ORPHANET A novel 1-bp deletion in PITX3 causing congenital posterior polar cataract. 21633712 2011
Entrez Id: 1969
Gene Symbol: EPHA2
EPHA2 		0.310 GermlineCausalMutation disease ORPHANET Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract. 19306328 2009
Entrez Id: 5309
Gene Symbol: PITX3
PITX3 		0.310 GermlineCausalMutation disease ORPHANET The PITX3 gene in posterior polar congenital cataract in Australia. 16636655 2006
Entrez Id: 55229
Gene Symbol: PANK4
PANK4 		0.300 GermlineCausalMutation disease ORPHANET A novel mutation of PANK4 causes autosomal dominant congenital posterior cataract. 30585370 2019
Entrez Id: 4284
Gene Symbol: MIP
MIP 		0.300 GermlineCausalMutation disease 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 		0.300 GermlineCausalMutation disease 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 		0.300 GermlineCausalMutation disease 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 		0.300 GermlineCausalMutation disease 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 		0.300 GermlineCausalMutation disease ORPHANET Identification of a CRYAB mutation associated with autosomal dominant posterior polar cataract in a Chinese family. 16877416 2006
Entrez Id: 4942
Gene Symbol: OAT
OAT 		0.100 Biomarker disease HPO
Entrez Id: 83932
Gene Symbol: SPRTN
SPRTN 		0.100 Biomarker disease HPO
Entrez Id: 50939
Gene Symbol: IMPG2
IMPG2 		0.100 Biomarker disease HPO
Entrez Id: 79797
Gene Symbol: ZNF408
ZNF408 		0.100 Biomarker disease HPO
Entrez Id: 2703
Gene Symbol: GJA8
GJA8 		0.100 Biomarker disease HPO
Entrez Id: 7287
Gene Symbol: TULP1
TULP1 		0.100 Biomarker disease HPO
Entrez Id: 92840
Gene Symbol: REEP6
REEP6 		0.100 Biomarker disease HPO
Entrez Id: 80207
Gene Symbol: OPA3
OPA3 		0.100 Biomarker disease HPO
Entrez Id: 7399
Gene Symbol: USH2A
USH2A 		0.100 CausalMutation disease CLINVAR
Entrez Id: 4796
Gene Symbol: TONSL
TONSL 		0.100 Biomarker disease HPO
Entrez Id: 5949
Gene Symbol: RBP3
RBP3 		0.100 Biomarker disease HPO