×
Entrez Id:
2700
Gene Symbol:
GJA3
GJA3
0.010
GeneticVariation
disease
BEFREE
The GJA3 -p.Ile31Asn mutation was identified in a patient with bilateral microphthalmia, microcornea, and membranous cataract .
29461140
2018
×
Entrez Id:
1427
Gene Symbol:
CRYGS
CRYGS
0.400
Biomarker
disease
HPO
×
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:
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
Influence of aldose reductase on epithelial-to-mesenchymal transition signaling in lens epithelial cells.
28137510
2017
×
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:
1409
Gene Symbol:
CRYAA
CRYAA
0.300
Biomarker
disease
CTD_human
Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA.
9467006
1998
×
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:
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:
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:
1421
Gene Symbol:
CRYGD
CRYGD
0.300
Biomarker
disease
CTD_human
Progressive juvenile-onset punctate cataracts caused by mutation of the gammaD-crystallin gene.
9927684
1999
×
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:
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:
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:
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:
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:
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:
2703
Gene Symbol:
GJA8
GJA8
0.300
Biomarker
disease
CTD_human
"A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant ""zonular pulverulent"" cataract, on chromosome 1q."
9497259
1998
×
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:
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:
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
A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD.
9620774
1998
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
0.300
Biomarker
disease
CTD_human
Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy)
8317498
1993
×
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