optic atrophy Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description Xref MGI. (Human Disease Ontology, DOID_5723)
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Genes

227 genes co-occuring with the disease optic atrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
WFS1 Wolfram syndrome 1 (wolframin) 2.68734
OPA1 optic atrophy 1 (autosomal dominant) 2.43409
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) 2.35304
MFN2 mitofusin 2 2.15354
TMEM126A transmembrane protein 126A 1.78985
MFN1 mitofusin 1 1.69088
C12ORF65 chromosome 12 open reading frame 65 1.65834
C19ORF12 chromosome 19 open reading frame 12 1.5769
CISD2 CDGSH iron sulfur domain 2 1.54628
EIF2B4 eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa 1.51018
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 1.25384
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive) 1.22085
EIF2B3 eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa 1.20915
TST thiosulfate sulfurtransferase (rhodanese) 1.19316
MTPAP mitochondrial poly(A) polymerase 1.19057
HMGCLL1 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 1.18755
AP5Z1 adaptor-related protein complex 5, zeta 1 subunit 1.18453
PANK2 pantothenate kinase 2 1.14687
OPN4 opsin 4 1.12235
BTD biotinidase 1.10384
PRPS1 phosphoribosyl pyrophosphate synthetase 1 1.103
MTRF1L mitochondrial translational release factor 1-like 1.09251
MTRF1 mitochondrial translational release factor 1 1.09251
AUH AU RNA binding protein/enoyl-CoA hydratase 1.08621
DNM1L dynamin 1-like 1.07026
SERAC1 serine active site containing 1 1.06816
EIF2B5 eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa 1.05387
TSEN54 TSEN54 tRNA splicing endonuclease subunit 1.02313
RARS2 arginyl-tRNA synthetase 2, mitochondrial 1.01934
EIF2B1 eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa 0.990644
CCDC50 coiled-coil domain containing 50 0.927519
KIAA0196 KIAA0196 0.922974
ZNF592 zinc finger protein 592 0.911022
TRAK2 trafficking protein, kinesin binding 2 0.911022
SPG11 spastic paraplegia 11 (autosomal recessive) 0.888848
CLCN7 chloride channel, voltage-sensitive 7 0.888438
GALC galactosylceramidase 0.888029
TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast) 0.88434
C10ORF2 chromosome 10 open reading frame 2 0.883111
SLC25A40 solute carrier family 25, member 40 0.876557
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma 0.872872
NR2F1 nuclear receptor subfamily 2, group F, member 1 0.871643
ZFYVE26 zinc finger, FYVE domain containing 26 0.871234
LRPPRC leucine-rich pentatricopeptide repeat containing 0.869187
CYB5B cytochrome b5 type B (outer mitochondrial membrane) 0.86714
AAAS achalasia, adrenocortical insufficiency, alacrimia 0.858952
NMNAT1 nicotinamide nucleotide adenylyltransferase 1 0.858952
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent) 0.855677
SLIRP SRA stem-loop interacting RNA binding protein 0.831508
SURF1 surfeit 1 0.829869
BOLA3 bolA family member 3 0.818385
TSHZ3 teashirt zinc finger homeobox 3 0.807718
TRAPPC10 trafficking protein particle complex 10 0.797052
DGKG diacylglycerol kinase, gamma 90kDa 0.795411
SLC33A1 solute carrier family 33 (acetyl-CoA transporter), member 1 0.783526
VRK1 vaccinia related kinase 1 0.775341
SIL1 SIL1 nucleotide exchange factor 0.774114
GSAP gamma-secretase activating protein 0.769618
OSTM1 osteopetrosis associated transmembrane protein 1 0.768801
PEX1 peroxisomal biogenesis factor 1 0.759824
FIS1 fission 1 (mitochondrial outer membrane) homolog (S. cerevisiae) 0.757786
DPM2 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit 0.754934
UPB1 ureidopropionase, beta 0.752085
APPL1 adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 0.746798
RHOT1 ras homolog family member T1 0.742735
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria 0.742735
PEX26 peroxisomal biogenesis factor 26 0.741517
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp) 0.735838
NBAS neuroblastoma amplified sequence 0.732191
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family) 0.731786
URI1 URI1, prefoldin-like chaperone 0.729762
ZFYVE27 zinc finger, FYVE domain containing 27 0.715618
DPM3 dolichyl-phosphate mannosyltransferase polypeptide 3 0.708767
DNAJC19 DnaJ (Hsp40) homolog, subfamily C, member 19 0.706351
DNM1 dynamin 1 0.701928
KIF5A kinesin family member 5A 0.689092
TSFM Ts translation elongation factor, mitochondrial 0.686691
EIF2B2 eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa 0.684692
SPG21 spastic paraplegia 21 (autosomal recessive, Mast syndrome) 0.683892
ETF1 eukaryotic translation termination factor 1 0.679898
DGKQ diacylglycerol kinase, theta 110kDa 0.676308
INS insulin 0.66914
CROT carnitine O-octanoyltransferase 0.66596
ERLIN2 ER lipid raft associated 2 0.658422
ATP5E ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit 0.657234
SRD5A3 steroid 5 alpha-reductase 3 0.645375
ATCAY ataxia, cerebellar, Cayman type 0.624927
HLCS holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) 0.619834
GLRX5 glutaredoxin 5 0.618268
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit 0.608885
RHBDL1 rhomboid, veinlet-like 1 (Drosophila) 0.604201
DGKA diacylglycerol kinase, alpha 80kDa 0.60069
GDAP1 ganglioside induced differentiation associated protein 1 0.597181
NYX nyctalopin 0.596792
ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 0.594843
SLC19A2 solute carrier family 19 (thiamine transporter), member 2 0.592116
POLG polymerase (DNA directed), gamma 0.585497
YME1L1 YME1-like 1 ATPase 0.580439
PRLH prolactin releasing hormone 0.579272
PARL presenilin associated, rhomboid-like 0.568775
LETM1 leucine zipper-EF-hand containing transmembrane protein 1 0.560227
LIAS lipoic acid synthetase 0.555956
TMEM70 transmembrane protein 70 0.540442
AVP arginine vasopressin 0.538118
PRICKLE1 prickle homolog 1 (Drosophila) 0.538118
GCSH glycine cleavage system protein H (aminomethyl carrier) 0.534248
NDUFV2 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa 0.532314
IMMT inner membrane protein, mitochondrial 0.52729
POLG2 polymerase (DNA directed), gamma 2, accessory subunit 0.52729
REEP1 receptor accessory protein 1 0.52343
SACS sacsin molecular chaperone 0.518805
CISD1 CDGSH iron sulfur domain 1 0.517649
RBM10 RNA binding motif protein 10 0.514571
SEMA6A sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A 0.511112
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 0.511112
SPAST spastin 0.505356
CLEC3A C-type lectin domain family 3, member A 0.501909
CLEC2B C-type lectin domain family 2, member B 0.496939
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 0.494266
GZMK granzyme K (granzyme 3; tryptase II) 0.489311
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic) 0.482844
C21ORF2 chromosome 21 open reading frame 2 0.478668
AFG3L2 AFG3-like AAA ATPase 2 0.475634
CLEC10A C-type lectin domain family 10, member A 0.473361
GJC2 gap junction protein, gamma 2, 47kDa 0.45447
NBPF1 neuroblastoma breakpoint family, member 1 0.448817
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) 0.448817
XG Xg blood group 0.444676
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like 0.4443
MCOLN1 mucolipin 1 0.436402
IMPACT impact RWD domain protein 0.433021
FA2H fatty acid 2-hydroxylase 0.43227
GAD2 glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) 0.430393
ZNF763 zinc finger protein 763 0.429266
ZNF569 zinc finger protein 569 0.429266
ZNF629 zinc finger protein 629 0.429266
ZNF501 zinc finger protein 501 0.429266
MFF mitochondrial fission factor 0.428891
FXN frataxin 0.42364
NPTX2 neuronal pentraxin II 0.422515
LAMA3 laminin, alpha 3 0.42214
NDUFS3 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) 0.419517
SMURF1 SMAD specific E3 ubiquitin protein ligase 1 0.418394
ZNF44 zinc finger protein 44 0.416521
KIF1A kinesin family member 1A 0.404931
BCL6B B-cell CLL/lymphoma 6, member B 0.400826
ADO 2-aminoethanethiol (cysteamine) dioxygenase 0.398962
GLDC glycine dehydrogenase (decarboxylating) 0.396725
ANTXR1 anthrax toxin receptor 1 0.394118
SPG20 spastic paraplegia 20 (Troyer syndrome) 0.390769
SLC52A3 solute carrier family 52 (riboflavin transporter), member 3 0.385193
CHRM1 cholinergic receptor, muscarinic 1 0.384822
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide 0.384451
ATP6V0A1 ATPase, H+ transporting, lysosomal V0 subunit a1 0.374438
NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1 0.366671
PRCD progressive rod-cone degeneration 0.366301
HMGCL 3-hydroxymethyl-3-methylglutaryl-CoA lyase 0.364454
FKTN fukutin 0.359289
OFD1 oral-facial-digital syndrome 1 0.351923
MMAA methylmalonic aciduria (cobalamin deficiency) cblA type 0.348614
SUMF1 sulfatase modifying factor 1 0.348246
FNDC3A fibronectin type III domain containing 3A 0.335046
PLP1 proteolipid protein 1 0.331391
PANK1 pantothenate kinase 1 0.331025
ICT1 immature colon carcinoma transcript 1 0.3292
PLEKHG4 pleckstrin homology domain containing, family G (with RhoGef domain) member 4 0.32774
NF1 neurofibromin 1 0.325187
BCAN brevican 0.324823
SMTNL1 smoothelin-like 1 0.324094
POMC proopiomelanocortin 0.321545
ZNF436 zinc finger protein 436 0.321181
ATL1 atlastin GTPase 1 0.313552
ATAD3A ATPase family, AAA domain containing 3A 0.312827
RPE65 retinal pigment epithelium-specific protein 65kDa 0.309566
L1CAM L1 cell adhesion molecule 0.298731
DRD5 dopamine receptor D5 0.296211
GRK1 G protein-coupled receptor kinase 1 0.295851
SDCBP syndecan binding protein (syntenin) 0.293694
RDH5 retinol dehydrogenase 5 (11-cis/9-cis) 0.29118
ANKH ANKH inorganic pyrophosphate transport regulator 0.279724
HM13 histocompatibility (minor) 13 0.277584
GCNT2 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) 0.277227
KIF21A kinesin family member 21A 0.272241
PROKR2 prokineticin receptor 2 0.270819
NPS neuropeptide S 0.264431
RING1 ring finger protein 1 0.260538
AQP2 aquaporin 2 (collecting duct) 0.256652
LONP1 lon peptidase 1, mitochondrial 0.24996
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit 0.245046
NGB neuroglobin 0.241546
HEXDC hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing 0.241546
SCG5 secretogranin V 0.239799
TPP1 tripeptidyl peptidase I 0.235964
DDR2 discoidin domain receptor tyrosine kinase 2 0.235616
THEM4 thioesterase superfamily member 4 0.235268
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter) 0.232836
PPT1 palmitoyl-protein thioesterase 1 0.229716
SETX senataxin 0.21974
MYOC myocilin, trabecular meshwork inducible glucocorticoid response 0.218374
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta 0.214636
GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3 0.213283
CALB1 calbindin 1, 28kDa 0.212608
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1 0.209918
ALMS1 Alstrom syndrome protein 1 0.207912
PDLIM1 PDZ and LIM domain 1 0.204593
TARP TCR gamma alternate reading frame protein 0.201635
NDUFS2 NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase) 0.195183
PHGDH phosphoglycerate dehydrogenase 0.194548
ATXN3 ataxin 3 0.193915
FES FES proto-oncogene, tyrosine kinase 0.18651
PROK2 prokineticin 2 0.182666
CLN3 ceroid-lipofuscinosis, neuronal 3 0.178403
CA2 carbonic anhydrase II 0.177851
FLNA filamin A, alpha 0.177668
GNB1 guanine nucleotide binding protein (G protein), beta polypeptide 1 0.177029
DHODH dihydroorotate dehydrogenase (quinone) 0.175411
TFG TRK-fused gene 0.173057
PNPLA6 patatin-like phospholipase domain containing 6 0.167224
CP ceruloplasmin (ferroxidase) 0.166768
ZKSCAN7 zinc finger with KRAB and SCAN domains 7 0.165435
BTK Bruton agammaglobulinemia tyrosine kinase 0.164786
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin) 0.163523
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 0.163317
CHD7 chromodomain helicase DNA binding protein 7 0.160761
LMNB1 lamin B1 0.160021
MVK mevalonate kinase 0.159838
GCG glucagon 0.143379