visual pathway disease Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
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Genes

326 genes co-occuring with the disease visual pathway disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
AQP4 aquaporin 4 2.58558
WFS1 Wolfram syndrome 1 (wolframin) 2.33188
OPA1 optic atrophy 1 (autosomal dominant) 2.12467
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) 2.07624
MFN2 mitofusin 2 1.84
MOG myelin oligodendrocyte glycoprotein 1.77451
MBP myelin basic protein 1.56267
TMEM126A transmembrane protein 126A 1.48911
MFN1 mitofusin 1 1.44123
NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa 1.38996
C12ORF65 chromosome 12 open reading frame 65 1.36161
NPTX2 neuronal pentraxin II 1.35158
IFNB1 interferon, beta 1, fibroblast 1.33065
BLOC1S6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin 1.2992
C19ORF12 chromosome 19 open reading frame 12 1.28217
CISD2 CDGSH iron sulfur domain 2 1.25254
GSAP gamma-secretase activating protein 1.22562
EIF2B4 eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa 1.21652
OPN4 opsin 4 1.20785
TST thiosulfate sulfurtransferase (rhodanese) 1.19186
DPYSL5 dihydropyrimidinase-like 5 1.16136
PDE5A phosphodiesterase 5A, cGMP-specific 1.0463
BTD biotinidase 0.986849
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) 0.982636
RHBDL1 rhomboid, veinlet-like 1 (Drosophila) 0.97212
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 0.968761
GNB1 guanine nucleotide binding protein (G protein), beta polypeptide 1 0.947435
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive) 0.936629
PARL presenilin associated, rhomboid-like 0.933727
EIF2B3 eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa 0.925865
MTPAP mitochondrial poly(A) polymerase 0.907731
HMGCLL1 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 0.905265
AP5Z1 adaptor-related protein complex 5, zeta 1 subunit 0.902389
MRPL47 mitochondrial ribosomal protein L47 0.886799
PANK2 pantothenate kinase 2 0.865912
CCNDBP1 cyclin D-type binding-protein 1 0.842573
TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast) 0.832329
FEM1C fem-1 homolog c (C. elegans) 0.823718
PRPS1 phosphoribosyl pyrophosphate synthetase 1 0.823308
IGLV1-40 immunoglobulin lambda variable 1-40 0.822897
MTRF1L mitochondrial translational release factor 1-like 0.813462
MTRF1 mitochondrial translational release factor 1 0.813462
AUH AU RNA binding protein/enoyl-CoA hydratase 0.806898
DNM1L dynamin 1-like 0.791311
SERAC1 serine active site containing 1 0.789262
MFRP membrane frizzled-related protein 0.776568
EIF2B5 eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa 0.775341
POU4F1 POU class 4 homeobox 1 0.75005
POLG polymerase (DNA directed), gamma 0.749644
TSEN54 TSEN54 tRNA splicing endonuclease subunit 0.745578
RARS2 arginyl-tRNA synthetase 2, mitochondrial 0.742329
ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 0.72612
IGLV1-44 immunoglobulin lambda variable 1-44 0.722886
EIF2B1 eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa 0.714408
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma 0.684292
C14ORF1 chromosome 14 open reading frame 1 0.683892
MFSD8 major facilitator superfamily domain containing 8 0.682294
SCAND2P SCAN domain containing 2 pseudogene 0.677504
BEX1 brain expressed, X-linked 1 0.673917
F5 coagulation factor V (proaccelerin, labile factor) 0.67312
CD4 CD4 molecule 0.658818
HLA-C major histocompatibility complex, class I, C 0.655254
CCDC50 coiled-coil domain containing 50 0.654067
KIAA0196 KIAA0196 0.649718
TFAM transcription factor A, mitochondrial 0.644586
TRAK2 trafficking protein, kinesin binding 2 0.638282
ZNF592 zinc finger protein 592 0.638282
NEFH neurofilament, heavy polypeptide 0.628065
SLC7A14 solute carrier family 7, member 14 0.624927
IER3IP1 immediate early response 3 interacting protein 1 0.621008
COX8A cytochrome c oxidase subunit VIIIA (ubiquitous) 0.620617
SPG11 spastic paraplegia 11 (autosomal recessive) 0.617094
CLCN7 chloride channel, voltage-sensitive 7 0.616703
GALC galactosylceramidase 0.616312
MTHFR methylenetetrahydrofolate reductase (NAD(P)H) 0.615921
ISL2 ISL LIM homeobox 2 0.612401
C10ORF2 chromosome 10 open reading frame 2 0.61162
SLC25A40 solute carrier family 25, member 40 0.605372
NR2F1 nuclear receptor subfamily 2, group F, member 1 0.60108
ZFYVE26 zinc finger, FYVE domain containing 26 0.6003
LRPPRC leucine-rich pentatricopeptide repeat containing 0.598351
CYB5B cytochrome b5 type B (outer mitochondrial membrane) 0.596402
GCNT2 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) 0.594454
NMNAT1 nicotinamide nucleotide adenylyltransferase 1 0.588612
AAAS achalasia, adrenocortical insufficiency, alacrimia 0.588612
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent) 0.585497
AVP arginine vasopressin 0.566054
SLIRP SRA stem-loop interacting RNA binding protein 0.562946
MAG myelin associated glycoprotein 0.562558
SURF1 surfeit 1 0.561392
BOLA3 bolA family member 3 0.550522
TNFRSF1B tumor necrosis factor receptor superfamily, member 1B 0.550134
NPS neuropeptide S 0.546644
PROS1 protein S (alpha) 0.541992
TSHZ3 teashirt zinc finger homeobox 3 0.540055
CRYZ crystallin, zeta (quinone reductase) 0.536957
TRAPPC10 trafficking protein particle complex 10 0.530381
DGKG diacylglycerol kinase, gamma 90kDa 0.528449
CNTF ciliary neurotrophic factor 0.52729
MYOC myocilin, trabecular meshwork inducible glucocorticoid response 0.52343
SLC33A1 solute carrier family 33 (acetyl-CoA transporter), member 1 0.517649
GFAP glial fibrillary acidic protein 0.517649
NMNAT3 nicotinamide nucleotide adenylyltransferase 3 0.513802
PRKY protein kinase, Y-linked, pseudogene 0.510728
VRK1 vaccinia related kinase 1 0.509576
SIL1 SIL1 nucleotide exchange factor 0.508424
CRP C-reactive protein, pentraxin-related 0.506507
OSTM1 osteopetrosis associated transmembrane protein 1 0.503441
INS insulin 0.503058
HLA-DRB5 major histocompatibility complex, class II, DR beta 5 0.497321
PEX1 peroxisomal biogenesis factor 1 0.495411
FIS1 fission 1 (mitochondrial outer membrane) homolog (S. cerevisiae) 0.493122
DPM2 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit 0.490454
POMC proopiomelanocortin 0.48893
UPB1 ureidopropionase, beta 0.487788
APPL1 adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 0.482844
CAST calpastatin 0.482084
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria 0.479047
RHOT1 ras homolog family member T1 0.479047
PEX26 peroxisomal biogenesis factor 26 0.478289
SIRT1 sirtuin 1 0.476772
AIF1 allograft inflammatory factor 1 0.475634
SOD2 superoxide dismutase 2, mitochondrial 0.475255
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp) 0.472604
DOCK7 dedicator of cytokinesis 7 0.469576
NBAS neuroblastoma amplified sequence 0.469576
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family) 0.469197
URI1 URI1, prefoldin-like chaperone 0.466928
NDC1 NDC1 transmembrane nucleoporin 0.464283
SPRED1 sprouty-related, EVH1 domain containing 1 0.463905
ZFYVE27 zinc finger, FYVE domain containing 27 0.453716
CLIP1 CAP-GLY domain containing linker protein 1 0.449194
DPM3 dolichyl-phosphate mannosyltransferase polypeptide 3 0.447311
RCVRN recoverin 0.446558
DNAJC19 DnaJ (Hsp40) homolog, subfamily C, member 19 0.445052
CRLF1 cytokine receptor-like factor 1 0.443171
DNM1 dynamin 1 0.44129
PRKX protein kinase, X-linked 0.432646
PTGDS prostaglandin D2 synthase 21kDa (brain) 0.430017
KIF5A kinesin family member 5A 0.428891
TSFM Ts translation elongation factor, mitochondrial 0.42664
EIF2B2 eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa 0.425139
SPG21 spastic paraplegia 21 (autosomal recessive, Mast syndrome) 0.424014
OPTN optineurin 0.420266
ETF1 eukaryotic translation termination factor 1 0.420266
DGKQ diacylglycerol kinase, theta 110kDa 0.416896
ASPA aspartoacylase 0.41465
SAG S-antigen; retina and pineal gland (arrestin) 0.410909
SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1 0.408666
CROT carnitine O-octanoyltransferase 0.407172
CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant 0.405678
PITX1 paired-like homeodomain 1 0.405678
IMPG1 interphotoreceptor matrix proteoglycan 1 0.400453
ERLIN2 ER lipid raft associated 2 0.40008
ATP5E ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit 0.398962
CLN5 ceroid-lipofuscinosis, neuronal 5 0.397098
CAT catalase 0.390769
SRD5A3 steroid 5 alpha-reductase 3 0.387794
CD79A CD79a molecule, immunoglobulin-associated alpha 0.381852
GPR15 G protein-coupled receptor 15 0.380368
LAMA3 laminin, alpha 3 0.380368
CASP2 caspase 2, apoptosis-related cysteine peptidase 0.379626
ACE angiotensin I converting enzyme 0.378514
EDA ectodysplasin A 0.369258
ATCAY ataxia, cerebellar, Cayman type 0.368888
RANGRF RAN guanine nucleotide release factor 0.36704
HLCS holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) 0.364085
GLRX5 glutaredoxin 5 0.362239
TKT transketolase 0.361502
IFNA10 interferon, alpha 10 0.358551
ALB albumin 0.357077
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit 0.353395
DGKA diacylglycerol kinase, alpha 80kDa 0.345675
F2 coagulation factor II (thrombin) 0.34384
GDAP1 ganglioside induced differentiation associated protein 1 0.342372
NYX nyctalopin 0.342006
DOCK3 dedicator of cytokinesis 3 0.338707
TPP1 tripeptidyl peptidase I 0.337975
GLB1 galactosidase, beta 1 0.337608
SLC19A2 solute carrier family 19 (thiamine transporter), member 2 0.337608
CLDN11 claudin 11 0.331756
PPT1 palmitoyl-protein thioesterase 1 0.331391
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic) 0.32701
YME1L1 YME1-like 1 ATPase 0.326646
PRLH prolactin releasing hormone 0.325916
FXN frataxin 0.316819
GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3 0.314278
NF1 neurofibromin 1 0.313915
RTKN rhotekin 0.313189
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1 0.31029
BEX2 brain expressed X-linked 2 0.309204
TNF tumor necrosis factor 0.308842
LETM1 leucine zipper-EF-hand containing transmembrane protein 1 0.307757
LIAS lipoic acid synthetase 0.303781
NDUFA5 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 0.30342
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase 0.303059
CCR5 chemokine (C-C motif) receptor 5 (gene/pseudogene) 0.302337
PLP1 proteolipid protein 1 0.301976
TIMM13 translocase of inner mitochondrial membrane 13 homolog (yeast) 0.299812
PRNP prion protein 0.294053
IMMT inner membrane protein, mitochondrial 0.293694
NFKBIL1 nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1 0.292257
KCNH6 potassium channel, voltage gated eag related subfamily H, member 6 0.29118
TMEM70 transmembrane protein 70 0.289386
PRICKLE1 prickle homolog 1 (Drosophila) 0.287593
GCSH glycine cleavage system protein H (aminomethyl carrier) 0.283655
MOBP myelin-associated oligodendrocyte basic protein 0.283297
NDUFV2 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa 0.281868
POLG2 polymerase (DNA directed), gamma 2, accessory subunit 0.277227
IK IK cytokine, down-regulator of HLA II 0.277227
GAD2 glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) 0.276158
REEP1 receptor accessory protein 1 0.274021
FLNA filamin A, alpha 0.273308
CS citrate synthase 0.272597
SACS sacsin molecular chaperone 0.269753
CISD1 CDGSH iron sulfur domain 1 0.268332
BNIP3L BCL2/adenovirus E1B 19kDa interacting protein 3-like 0.265707
RBM10 RNA binding motif protein 10 0.265494
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 0.262306
SEMA6A sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A 0.262306
PRL prolactin 0.259124
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 0.258417
SPAST spastin 0.257005
HSPG2 heparan sulfate proteoglycan 2 0.255946
BDNF brain-derived neurotrophic factor 0.254536
CLEC3A C-type lectin domain family 3, member A 0.253831
VEGFA vascular endothelial growth factor A 0.253127
COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor 0.252422
CLEC2B C-type lectin domain family 2, member B 0.249257
HNMT histamine N-methyltransferase 0.249257
HCRT hypocretin (orexin) neuropeptide precursor 0.247852
GCAT glycine C-acetyltransferase 0.247501
IGKV1D-42 immunoglobulin kappa variable 1D-42 (non-functional) 0.24715
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 0.246799
GZMK granzyme K (granzyme 3; tryptase II) 0.242595
STX8 syntaxin 8 0.240148
ALDH7A1 aldehyde dehydrogenase 7 family, member A1 0.23666
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic) 0.236312
MCCC1 methylcrotonoyl-CoA carboxylase 1 (alpha) 0.235616
F3 coagulation factor III (thromboplastin, tissue factor) 0.23353
C21ORF2 chromosome 21 open reading frame 2 0.232489
AFG3L2 AFG3-like AAA ATPase 2 0.229716
CLEC10A C-type lectin domain family 10, member A 0.227642
MMD monocyte to macrophage differentiation-associated 0.224884
AMPH amphiphysin 0.224884
CXCR3 chemokine (C-X-C motif) receptor 3 0.219398
THY1 Thy-1 cell surface antigen 0.217693
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 0.215653
TNFRSF21 tumor necrosis factor receptor superfamily, member 21 0.214297
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) 0.213621
AURKAIP1 aurora kinase A interacting protein 1 0.212001
PTF1A pancreas specific transcription factor, 1a 0.211194
GJC2 gap junction protein, gamma 2, 47kDa 0.210925
EDN1 endothelin 1 0.210253
CLN3 ceroid-lipofuscinosis, neuronal 3 0.209918
FRMD7 FERM domain containing 7 0.208914
POU2F3 POU class 2 homeobox 3 0.205585
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) 0.205585
NBPF1 neuroblastoma breakpoint family, member 1 0.205585
SOD3 superoxide dismutase 3, extracellular 0.205254
SALL1 spalt-like transcription factor 1 0.202421
XG Xg blood group 0.20229
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like 0.201962
ENO2 enolase 2 (gamma, neuronal) 0.201635
CD80 CD80 molecule 0.197742
SRCIN1 SRC kinase signaling inhibitor 1 0.196139
MCOLN1 mucolipin 1 0.195183
HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10 0.194929
IGF1 insulin-like growth factor 1 (somatomedin C) 0.193285
MT-ATP8 ATP synthase F0 subunit 8 0.192657
ASS1 argininosuccinate synthase 1 0.192344
IMPACT impact RWD domain protein 0.192031
FA2H fatty acid 2-hydroxylase 0.191719
ZNF569 zinc finger protein 569 0.189244
ZNF763 zinc finger protein 763 0.189244
ZNF629 zinc finger protein 629 0.189244
ZNF501 zinc finger protein 501 0.189244
MFF mitochondrial fission factor 0.188938
SYCN syncollin 0.187415
PHB prohibitin 0.183835
NDUFS3 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) 0.181222
IL4 interleukin 4 0.180652
SMURF1 SMAD specific E3 ubiquitin protein ligase 1 0.180367
PAX6 paired box 6 0.179239
ZNF44 zinc finger protein 44 0.17896
MRAP melanocortin 2 receptor accessory protein 0.178403
CHI3L1 chitinase 3-like 1 (cartilage glycoprotein-39) 0.175947
CP ceruloplasmin (ferroxidase) 0.175146
POU4F2 POU class 4 homeobox 2 0.174093
BNIP3 BCL2/adenovirus E1B 19kDa interacting protein 3 0.173832
MAPT microtubule-associated protein tau 0.172038
TOB1 transducer of ERBB2, 1 0.171936
SLC1A3 solute carrier family 1 (glial high affinity glutamate transporter), member 3 0.171785
KIF1A kinesin family member 1A 0.170789
ARHGEF7 Rho guanine nucleotide exchange factor (GEF) 7 0.16933
CASP3 caspase 3, apoptosis-related cysteine peptidase 0.168381
BCL6B B-cell CLL/lymphoma 6, member B 0.168148
ADO 2-aminoethanethiol (cysteamine) dioxygenase 0.166995
RICTOR RPTOR independent companion of MTOR, complex 2 0.166319
IGFBP3 insulin-like growth factor binding protein 3 0.165655
GLDC glycine dehydrogenase (decarboxylating) 0.165655
ANTXR1 anthrax toxin receptor 1 0.164149
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit 0.162989
SPG20 spastic paraplegia 20 (Troyer syndrome) 0.162306
SCN3A sodium channel, voltage gated, type III alpha subunit 0.162306
PC pyruvate carboxylase 0.162109
SLC52A3 solute carrier family 52 (riboflavin transporter), member 3 0.159658
CHRM1 cholinergic receptor, muscarinic 1 0.15948
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide 0.159302
BAX BCL2-associated X protein 0.158951
TSPO translocator protein (18kDa) 0.158434
ACO2 aconitase 2, mitochondrial 0.158434
FKTN fukutin 0.145108
XRCC6 X-ray repair complementing defective repair in Chinese hamster cells 6 0.144495
JAG1 jagged 1 0.144024
NEUROD1 neuronal differentiation 1 0.144013
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein 0.143819
GATA3 GATA binding protein 3 0.143577
PTER phosphotriesterase related 0.143095
BCHE butyrylcholinesterase 0.143048
IL1RN interleukin 1 receptor antagonist 0.141954
IFNA1 interferon, alpha 1 0.141507
CABIN1 calcineurin binding protein 1 0.141455
DNAH8 dynein, axonemal, heavy chain 8 0.123744
IL2 interleukin 2 0.121087
PIK3C2A phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha 0.120063