Cortical Cataract Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A cataract which affects the layer of the lens surrounding the nucleus, i.e., the lens cortex. It is identified by its unique wedge or spoke appearance. (Human Phenotype Ontology, HP_0100019)
External Link https://www.disgenet.org/browser/0/1/0/C0271160
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Genes

68 genes associated with the disease Cortical Cataract in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACE angiotensin I converting enzyme
AKR1B1 aldo-keto reductase family 1, member B1 (aldose reductase)
APP amyloid beta (A4) precursor protein
ASPG asparaginase
ATF3 activating transcription factor 3
BDNF brain-derived neurotrophic factor
BFSP1 beaded filament structural protein 1, filensin
BGLAP bone gamma-carboxyglutamate (gla) protein
BLM Bloom syndrome, RecQ helicase-like
C7ORF49 chromosome 7 open reading frame 49
CCL11 chemokine (C-C motif) ligand 11
CCN2 cellular communication network factor 2
CCNH cyclin H
CDK7 cyclin-dependent kinase 7
CRYAA crystallin, alpha A
CRYGS crystallin, gamma S
CTNND2 catenin (cadherin-associated protein), delta 2
CYBB cytochrome b-245, beta polypeptide
CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1
DDR1 discoidin domain receptor tyrosine kinase 1
EPHA2 EPH receptor A2
ERCC2 excision repair cross-complementation group 2
ERCC3 excision repair cross-complementation group 3
ERCC5 excision repair cross-complementation group 5
ERCC6 excision repair cross-complementation group 6
FKBP5 FK506 binding protein 5
FN1 fibronectin 1
GDF15 growth differentiation factor 15
GHSR growth hormone secretagogue receptor
GJA8 gap junction protein, alpha 8, 50kDa
GLB1 galactosidase, beta 1
GSTM1 glutathione S-transferase mu 1
GSTP1 glutathione S-transferase pi 1
GSTT1 glutathione S-transferase theta 1
GTF2H1 general transcription factor IIH, polypeptide 1, 62kDa
GTF2H2 general transcription factor IIH, polypeptide 2, 44kDa
GTF2H3 general transcription factor IIH, polypeptide 3, 34kDa
GTF2H4 general transcription factor IIH, polypeptide 4, 52kDa
GTF2H5 general transcription factor IIH, polypeptide 5
IFNG interferon, gamma
KLK3 kallikrein-related peptidase 3
LSS lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)
MAPK8 mitogen-activated protein kinase 8
MGAM maltase-glucoamylase
MIP major intrinsic protein of lens fiber
MUC4 mucin 4, cell surface associated
NFE2L2 nuclear factor, erythroid 2-like 2
NPEPPS aminopeptidase puromycin sensitive
OGG1 8-oxoguanine DNA glycosylase
P2RY12 purinergic receptor P2Y, G-protein coupled, 12
PAX6 paired box 6
PLAG1 pleiomorphic adenoma gene 1
POMC proopiomelanocortin
PROS1 protein S (alpha)
PSAT1 phosphoserine aminotransferase 1
RGN regucalcin
SDC1 syndecan 1
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
SI sucrase-isomaltase (alpha-glucosidase)
SLC16A3 solute carrier family 16 (monocarboxylate transporter), member 3
SLC16A4 solute carrier family 16, member 4
SST somatostatin
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
TGFB1 transforming growth factor, beta 1
TIMP1 TIMP metallopeptidase inhibitor 1
TNNI3 troponin I type 3 (cardiac)
VWF von Willebrand factor
WRN Werner syndrome, RecQ helicase-like