Blindness Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link http://ctdbase.org/detail.go?type=disease&acc=MESH:D001766
Similar Terms
Downloads & Tools

Genes

288 genes/proteins associated with the disease Blindness from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
LCA5 Leber congenital amaurosis 5 2.88009
RPE65 retinal pigment epithelium-specific protein 65kDa 2.88009
TNF tumor necrosis factor 2.26071
CASP3 caspase 3, apoptosis-related cysteine peptidase 2.22914
IL6 interleukin 6 2.22096
BAX BCL2-associated X protein 2.18927
AKT1 v-akt murine thymoma viral oncogene homolog 1 2.09568
IL1B interleukin 1, beta 2.04842
BCL2 B-cell CLL/lymphoma 2 2.01938
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1) 1.9864
CAT catalase 1.97097
CXCL8 chemokine (C-X-C motif) ligand 8 1.96891
BCL2L1 BCL2-like 1 1.9492
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 1.9296
CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4 1.92406
JUN jun proto-oncogene 1.92172
CCL2 chemokine (C-C motif) ligand 2 1.91619
GSTP1 glutathione S-transferase pi 1 1.87642
IL4 interleukin 4 1.86375
TP53 tumor protein p53 1.8608
VEGFA vascular endothelial growth factor A 1.85975
SOD2 superoxide dismutase 2, mitochondrial 1.84959
EGR1 early growth response 1 1.83574
MAPK1 mitogen-activated protein kinase 1 1.80303
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) 1.80057
PRL prolactin 1.79808
PARP1 poly (ADP-ribose) polymerase 1 1.77724
CASP8 caspase 8, apoptosis-related cysteine peptidase 1.7652
FAS Fas cell surface death receptor 1.75836
MAPK3 mitogen-activated protein kinase 3 1.74903
FOS FBJ murine osteosarcoma viral oncogene homolog 1.72821
RELA v-rel avian reticuloendotheliosis viral oncogene homolog A 1.69784
IFNG interferon, gamma 1.6789
CLU clusterin 1.67268
CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2 1.66684
EDN1 endothelin 1 1.66382
LEP leptin 1.66081
TH tyrosine hydroxylase 1.64595
NOS2 nitric oxide synthase 2, inducible 1.64393
MT1A metallothionein 1A 1.62153
GSTM1 glutathione S-transferase mu 1 1.60734
CYCS cytochrome c, somatic 1.60641
TGFB1 transforming growth factor, beta 1 1.59685
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) 1.59451
CASP9 caspase 9, apoptosis-related cysteine peptidase 1.58865
IL1A interleukin 1, alpha 1.58584
H2AFX H2A histone family, member X 1.58537
HMOX1 heme oxygenase 1 1.58374
SOD1 superoxide dismutase 1, soluble 1.579
SLC22A2 solute carrier family 22 (organic cation transporter), member 2 1.57186
SPP1 secreted phosphoprotein 1 1.56337
CCND1 cyclin D1 1.55772
CASP7 caspase 7, apoptosis-related cysteine peptidase 1.55599
UCP2 uncoupling protein 2 (mitochondrial, proton carrier) 1.54596
CTSD cathepsin D 1.54281
GSR glutathione reductase 1.52938
ALB albumin 1.52865
BNIP3 BCL2/adenovirus E1B 19kDa interacting protein 3 1.51355
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 1.50776
GCLC glutamate-cysteine ligase, catalytic subunit 1.50448
SRC SRC proto-oncogene, non-receptor tyrosine kinase 1.50146
BDNF brain-derived neurotrophic factor 1.49762
MYC v-myc avian myelocytomatosis viral oncogene homolog 1.49304
INS insulin 1.492
POMC proopiomelanocortin 1.48659
RRM2 ribonucleotide reductase M2 1.48428
IL10 interleukin 10 1.48273
IGF1 insulin-like growth factor 1 (somatomedin C) 1.4753
GSK3B glycogen synthase kinase 3 beta 1.47374
EDNRB endothelin receptor type B 1.47348
ICAM1 intercellular adhesion molecule 1 1.47296
DDIT3 DNA-damage-inducible transcript 3 1.46781
NUPR1 nuclear protein, transcriptional regulator, 1 1.46093
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha 1.4575
GPT glutamic-pyruvate transaminase (alanine aminotransferase) 1.44355
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) 1.43401
MAPK8 mitogen-activated protein kinase 8 1.4332
COL1A1 collagen, type I, alpha 1 1.42994
PPARG peroxisome proliferator-activated receptor gamma 1.42885
SCD stearoyl-CoA desaturase (delta-9-desaturase) 1.42859
VCAM1 vascular cell adhesion molecule 1 1.42804
TAGLN transgelin 1.42642
NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha 1.42293
GFAP glial fibrillary acidic protein 1.41748
NES nestin 1.40732
ATF3 activating transcription factor 3 1.40568
PER1 period circadian clock 1 1.40429
MTOR mechanistic target of rapamycin (serine/threonine kinase) 1.39924
GSTT1 glutathione S-transferase theta 1 1.38891
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b 1.38641
GPX1 glutathione peroxidase 1 1.38527
EPO erythropoietin 1.38441
CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1 1.38441
MKI67 marker of proliferation Ki-67 1.38156
RAC1 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) 1.37846
GAPDH glyceraldehyde-3-phosphate dehydrogenase 1.3716
CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1 1.37018
FOSL2 FOS-like antigen 2 1.36905
ABCC3 ATP-binding cassette, sub-family C (CFTR/MRP), member 3 1.36763
CXCL1 chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha) 1.36677
TLR4 toll-like receptor 4 1.36619
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) 1.36504
KRT8 keratin 8, type II 1.36304
SLC30A1 solute carrier family 30 (zinc transporter), member 1 1.35821
NPY neuropeptide Y 1.35386
CEBPB CCAAT/enhancer binding protein (C/EBP), beta 1.35271
NOS3 nitric oxide synthase 3 (endothelial cell) 1.35271
EGFR epidermal growth factor receptor 1.35271
MAOA monoamine oxidase A 1.34869
ALDH1A1 aldehyde dehydrogenase 1 family, member A1 1.34459
DUSP1 dual specificity phosphatase 1 1.34198
MMP13 matrix metallopeptidase 13 1.33966
ATP1A1 ATPase, Na+/K+ transporting, alpha 1 polypeptide 1.33494
NQO1 NAD(P)H dehydrogenase, quinone 1 1.33494
TNFSF10 tumor necrosis factor (ligand) superfamily, member 10 1.33169
IGFBP1 insulin-like growth factor binding protein 1 1.3311
HSPB1 heat shock 27kDa protein 1 1.33052
ATM ATM serine/threonine kinase 1.32428
FOXO1 forkhead box O1 1.3228
ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 1.32251
TF transferrin 1.32103
GUCY1B3 guanylate cyclase 1, soluble, beta 3 1.32074
CD44 CD44 molecule (Indian blood group) 1.31927
APP amyloid beta (A4) precursor protein 1.30451
DRD2 dopamine receptor D2 1.30238
INHBA inhibin, beta A 1.30177
PDIA3 protein disulfide isomerase family A, member 3 1.29502
FN1 fibronectin 1 1.2941
MAPK10 mitogen-activated protein kinase 10 1.29225
HSPD1 heat shock 60kDa protein 1 (chaperonin) 1.28272
G6PC glucose-6-phosphatase, catalytic subunit 1.27966
CYP2C9 cytochrome P450, family 2, subfamily C, polypeptide 9 1.27813
MPO myeloperoxidase 1.27286
RGS2 regulator of G-protein signaling 2 1.26329
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1 1.26205
CASP6 caspase 6, apoptosis-related cysteine peptidase 1.26144
PPARA peroxisome proliferator-activated receptor alpha 1.26083
INA internexin neuronal intermediate filament protein, alpha 1.26052
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1 1.25525
PLAT plasminogen activator, tissue 1.2509
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) 1.24905
ANXA5 annexin A5 1.24781
CCNG1 cyclin G1 1.24401
MAP2 microtubule-associated protein 2 1.24244
CRH corticotropin releasing hormone 1.23837
RXRG retinoid X receptor, gamma 1.23712
IRS1 insulin receptor substrate 1 1.23648
MT1X metallothionein 1X 1.23424
GADD45A growth arrest and DNA-damage-inducible, alpha 1.23265
PPP1R1B protein phosphatase 1, regulatory (inhibitor) subunit 1B 1.22599
EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1 1.22016
GSTO1 glutathione S-transferase omega 1 1.21791
CAMK2A calcium/calmodulin-dependent protein kinase II alpha 1.21534
CRYAB crystallin, alpha B 1.21304
SNCA synuclein, alpha (non A4 component of amyloid precursor) 1.21304
BAG3 BCL2-associated athanogene 3 1.21271
MSH2 mutS homolog 2 1.21271
PRKAA1 protein kinase, AMP-activated, alpha 1 catalytic subunit 1.21271
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4 1.21011
ACO2 aconitase 2, mitochondrial 1.20493
BTG2 BTG family, member 2 1.20097
VLDLR very low density lipoprotein receptor 1.19999
MAPK9 mitogen-activated protein kinase 9 1.19542
CCL3 chemokine (C-C motif) ligand 3 1.19312
CD14 CD14 molecule 1.19246
S100A4 S100 calcium binding protein A4 1.19014
GSTA2 glutathione S-transferase alpha 2 1.18948
IGF1R insulin-like growth factor 1 receptor 1.18915
HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase 1.18456
RPS6KB1 ribosomal protein S6 kinase, 70kDa, polypeptide 1 1.18293
HBB hemoglobin, beta 1.18293
ORM1 orosomucoid 1 1.18293
SQSTM1 sequestosome 1 1.18293
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor) 1.18226
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic) 1.18226
CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6 1.18226
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1 1.17959
NR1I2 nuclear receptor subfamily 1, group I, member 2 1.1786
TNFRSF10B tumor necrosis factor receptor superfamily, member 10b 1.17794
MAPK14 mitogen-activated protein kinase 14 1.17431
IL2 interleukin 2 1.17399
MSMO1 methylsterol monooxygenase 1 1.17366
MAP1LC3B microtubule-associated protein 1 light chain 3 beta 1.167
GSTA4 glutathione S-transferase alpha 4 1.16567
REN renin 1.16434
NOS1 nitric oxide synthase 1 (neuronal) 1.16269
ACTG2 actin, gamma 2, smooth muscle, enteric 1.16236
CEBPA CCAAT/enhancer binding protein (C/EBP), alpha 1.16104
NFE2L2 nuclear factor, erythroid 2-like 2 1.16035
FLT1 fms-related tyrosine kinase 1 1.15797
MT2A metallothionein 2A 1.15661
GNAI2 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 1.15526
ABCC1 ATP-binding cassette, sub-family C (CFTR/MRP), member 1 1.15526
CTSL cathepsin L 1.15357
OAT ornithine aminotransferase 1.15357
CDK1 cyclin-dependent kinase 1 1.1529
BIRC3 baculoviral IAP repeat containing 3 1.15223
BMP4 bone morphogenetic protein 4 1.15156
FDFT1 farnesyl-diphosphate farnesyltransferase 1 1.14954
CYP2C8 cytochrome P450, family 2, subfamily C, polypeptide 8 1.14954
SQLE squalene epoxidase 1.14713
PDK4 pyruvate dehydrogenase kinase, isozyme 4 1.14507
IGFBP5 insulin-like growth factor binding protein 5 1.14302
ALAS2 5'-aminolevulinate synthase 2 1.14166
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa 1.13793
MAP2K1 mitogen-activated protein kinase kinase 1 1.13621
NGF nerve growth factor (beta polypeptide) 1.13621
S100A11 S100 calcium binding protein A11 1.13518
CASP2 caspase 2, apoptosis-related cysteine peptidase 1.13279
ADIPOR2 adiponectin receptor 2 1.12872
CALR calreticulin 1.12872
CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1 1.1253
TNFAIP3 tumor necrosis factor, alpha-induced protein 3 1.12495
G6PD glucose-6-phosphate dehydrogenase 1.12254
APOE apolipoprotein E 1.1198
DUSP4 dual specificity phosphatase 4 1.11945
XDH xanthine dehydrogenase 1.11466
ITGA5 integrin, alpha 5 (fibronectin receptor, alpha polypeptide) 1.11325
CYBA cytochrome b-245, alpha polypeptide 1.11325
COX3 1.10424
MAP2K2 mitogen-activated protein kinase kinase 2 1.10388
KCNH2 potassium channel, voltage gated eag related subfamily H, member 2 1.10282
GH1 growth hormone 1 1.10211
GLRX glutaredoxin (thioltransferase) 1.10175
CYP3A5 cytochrome P450, family 3, subfamily A, polypeptide 5 1.10033
ANGPTL4 angiopoietin-like 4 1.09857
CCNB1 cyclin B1 1.09822
STAR steroidogenic acute regulatory protein 1.09646
ANXA1 annexin A1 1.09471
SIRT3 sirtuin 3 1.09366
SERPINB1 serpin peptidase inhibitor, clade B (ovalbumin), member 1 1.09332
MGST1 microsomal glutathione S-transferase 1 1.09297
ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group) 1.09119
INSIG1 insulin induced gene 1 1.08762
LPL lipoprotein lipase 1.08619
CDH1 cadherin 1, type 1, E-cadherin (epithelial) 1.08619
BRCA1 breast cancer 1, early onset 1.08584
HSPA1B heat shock 70kDa protein 1B 1.08584
GSTA1 glutathione S-transferase alpha 1 1.08513
FYN FYN proto-oncogene, Src family tyrosine kinase 1.08478
DRD1 dopamine receptor D1 1.08407
CYP2B6 cytochrome P450, family 2, subfamily B, polypeptide 6 1.08231
TUBA1A tubulin, alpha 1a 1.08196
CXCL10 chemokine (C-X-C motif) ligand 10 1.08019
TRPV2 transient receptor potential cation channel, subfamily V, member 2 1.0784
PLG plasminogen 1.07696
CCNE1 cyclin E1 1.07518
CD151 CD151 molecule (Raph blood group) 1.07411
GDNF glial cell derived neurotrophic factor 1.07411
PCK1 phosphoenolpyruvate carboxykinase 1 (soluble) 1.07376
F3 coagulation factor III (thromboplastin, tissue factor) 1.07199
TRIB3 tribbles pseudokinase 3 1.06698
LCN2 lipocalin 2 1.06552
ATP5D ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit 1.06515
MGMT O-6-methylguanine-DNA methyltransferase 1.06406
CDC42 cell division cycle 42 1.0637
GSTM3 glutathione S-transferase mu 3 (brain) 1.0637
MT3 metallothionein 3 1.06116
NFE2L1 nuclear factor, erythroid 2-like 1 1.06008
CPT1A carnitine palmitoyltransferase 1A (liver) 1.059
MYH7 myosin, heavy chain 7, cardiac muscle, beta 1.05386
DDIT4 DNA-damage-inducible transcript 4 1.05237
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) 1.05163
TPI1 triosephosphate isomerase 1 1.05126
MMP3 matrix metallopeptidase 3 1.04941
CSF2 colony stimulating factor 2 (granulocyte-macrophage) 1.04941
H6PD hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) 1.04721
CYP26A1 cytochrome P450, family 26, subfamily A, polypeptide 1 1.04647
CDC25B cell division cycle 25B 1.04427
EHHADH enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase 1.03901
CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1 1.03901
SHMT2 serine hydroxymethyltransferase 2 (mitochondrial) 1.03493
BHLHE40 basic helix-loop-helix family, member e40 1.03456
MMP9 matrix metallopeptidase 9 1.03419
SRGN serglycin 1.03046
F2 coagulation factor II (thrombin) 1.03046
TYMS thymidylate synthetase 1.02746
B2M beta-2-microglobulin 1.02522
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1 1.02522
NAMPT nicotinamide phosphoribosyltransferase 1.02336
NRP1 neuropilin 1 1.02299
SLC10A1 solute carrier family 10 (sodium/bile acid cotransporter), member 1 1.02299
LOXL1 lysyl oxidase-like 1 1.02299
IGFBP3 insulin-like growth factor binding protein 3 1.02003
HSP90AB1 heat shock protein 90kDa alpha (cytosolic), class B member 1 1.01663
TDO2 tryptophan 2,3-dioxygenase 1.01512
FMO1 flavin containing monooxygenase 1 1.01212
HPS1 Hermansky-Pudlak syndrome 1 1.01025