Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1427
Gene Symbol: CRYGS
CRYGS 		0.400 Biomarker disease CTD_human Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans. 16141006 2005
Entrez Id: 1427
Gene Symbol: CRYGS
CRYGS 		0.400 Biomarker disease HPO
Entrez Id: 407006
Gene Symbol: MIR221
MIR221 		0.300 Biomarker disease CTD_human miR-221 promotes lens epithelial cells apoptosis through interacting with SIRT1 and E2F3. 30926320 2019
Entrez Id: 1421
Gene Symbol: CRYGD
CRYGD 		0.300 Biomarker disease CTD_human Dynamic disulfide exchange in a crystallin protein in the human eye lens promotes cataract-associated aggregation. 30242128 2018
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.300 Biomarker disease CTD_human Two Paired Box 6 mutations identified in Chinese patients with classic congenital aniridia and cataract. 30221735 2018
Entrez Id: 231
Gene Symbol: AKR1B1
AKR1B1 		0.300 Biomarker disease CTD_human Influence of aldose reductase on epithelial-to-mesenchymal transition signaling in lens epithelial cells. 28137510 2017
Entrez Id: 218
Gene Symbol: ALDH3A1
ALDH3A1 		0.300 Biomarker disease CTD_human Corneal haze phenotype in Aldh3a1-null mice: In vivo confocal microscopy and tissue imaging mass spectrometry. 28038895 2017
Entrez Id: 231
Gene Symbol: AKR1B1
AKR1B1 		0.300 Biomarker disease CTD_human Aldose reductase expression as a risk factor for cataract. 25541468 2015
Entrez Id: 9197
Gene Symbol: SLC33A1
SLC33A1 		0.300 Biomarker disease CTD_human Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin. 22243965 2012
Entrez Id: 23424
Gene Symbol: TDRD7
TDRD7 		0.300 Biomarker disease CTD_human Mutations in the RNA granule component TDRD7 cause cataract and glaucoma. 21436445 2011
Entrez Id: 57447
Gene Symbol: NDRG2
NDRG2 		0.300 Biomarker disease CTD_human Up-regulation of NDRG2 in senescent lens epithelial cells contributes to age-related cataract in human. 22043305 2011
Entrez Id: 231
Gene Symbol: AKR1B1
AKR1B1 		0.300 Biomarker disease CTD_human Aldose reductase-mediated induction of epithelium-to-mesenchymal transition (EMT) in lens. 21329682 2011
Entrez Id: 231
Gene Symbol: AKR1B1
AKR1B1 		0.300 Biomarker disease CTD_human Aldose reductase deficiency protects sugar-induced lens opacification in rats. 21376710 2011
Entrez Id: 7431
Gene Symbol: VIM
VIM 		0.300 Biomarker disease CTD_human Dominant cataract formation in association with a vimentin assembly disrupting mutation. 19126778 2009
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6 		0.300 Biomarker disease CTD_human Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation. 18628313 2008
Entrez Id: 8671
Gene Symbol: SLC4A4
SLC4A4 		0.300 Biomarker disease CTD_human G418-mediated ribosomal read-through of a nonsense mutation causing autosomal recessive proximal renal tubular acidosis. 18614622 2008
Entrez Id: 5309
Gene Symbol: PITX3
PITX3 		0.300 Biomarker disease CTD_human Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities. 16565358 2006
Entrez Id: 472
Gene Symbol: ATM
ATM 		0.300 Biomarker disease CTD_human The relative biological effectiveness of densely ionizing heavy-ion radiation for inducing ocular cataracts in wild type versus mice heterozygous for the ATM gene. 16799786 2006
Entrez Id: 490
Gene Symbol: ATP2B1
ATP2B1 		0.300 Biomarker disease CTD_human Changes in plasma membrane Ca2+ -ATPase expression and ATP content in lenses of hereditary cataract UPL rats. 15003327 2004
Entrez Id: 3982
Gene Symbol: LIM2
LIM2 		0.300 Biomarker disease CTD_human A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family. 11917274 2002
Entrez Id: 1420
Gene Symbol: CRYGC
CRYGC 		0.300 Biomarker disease CTD_human A 6-bp deletion in the Crygc gene leading to a nuclear and radial cataract in the mouse. 11773036 2002
Entrez Id: 1414
Gene Symbol: CRYBB1
CRYBB1 		0.300 Biomarker disease CTD_human A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q. 12360425 2002
Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB 		0.300 Biomarker disease CTD_human Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans. 11577372 2001
Entrez Id: 1420
Gene Symbol: CRYGC
CRYGC 		0.300 Biomarker disease CTD_human A 5-base insertion in the gammaC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract. 10914683 2000
Entrez Id: 4284
Gene Symbol: MIP
MIP 		0.300 Biomarker disease CTD_human Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q. 10802646 2000