ophthalmoplegia Gene Set

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

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

Symbol Name Standardized Value
KIF21A kinesin family member 21A 2.51358
POLG polymerase (DNA directed), gamma 2.07487
PHOX2A paired-like homeobox 2a 1.98715
C10ORF2 chromosome 10 open reading frame 2 1.7948
MYH2 myosin, heavy chain 2, skeletal muscle, adult 1.76818
RYR1 ryanodine receptor 1 (skeletal) 1.4834
TYMP thymidine phosphorylase 1.42016
MGME1 mitochondrial genome maintenance exonuclease 1 1.36335
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 1.34897
MYH8 myosin, heavy chain 8, skeletal muscle, perinatal 1.33938
ATXN3 ataxin 3 1.29178
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic 1.28261
C12ORF65 chromosome 12 open reading frame 65 1.22302
MTRF1 mitochondrial translational release factor 1 1.22128
MTRF1L mitochondrial translational release factor 1-like 1.22128
MTM1 myotubularin 1 1.21089
SEPN1 selenoprotein N, 1 1.20266
PITX1 paired-like homeodomain 1 1.17292
ATXN7 ataxin 7 1.16136
PABPN1 poly(A) binding protein, nuclear 1 1.07194
PLEKHG4 pleckstrin homology domain containing, family G (with RhoGef domain) member 4 1.06186
NPC1 Niemann-Pick disease, type C1 1.02102
SLC19A3 solute carrier family 19 (thiamine transporter), member 3 1.01385
DGUOK deoxyguanosine kinase 1.0071
POLG2 polymerase (DNA directed), gamma 2, accessory subunit 0.999924
HMGA2 high mobility group AT-hook 2 0.949102
NPTX2 neuronal pentraxin II 0.94078
MTMR14 myotubularin related protein 14 0.935799
COLQ collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase 0.913492
SACS sacsin molecular chaperone 0.881062
ATXN1 ataxin 1 0.879424
PODN podocan 0.879014
MYH6 myosin, heavy chain 6, cardiac muscle, alpha 0.840115
SNTB2 syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2) 0.836837
BIN1 bridging integrator 1 0.830279
SPTBN2 spectrin, beta, non-erythrocytic 2 0.816745
RRM2B ribonucleotide reductase M2 B (TP53 inducible) 0.81018
SLC10A3 solute carrier family 10, member 3 0.796642
NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa 0.787623
DNM2 dynamin 2 0.774932
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) 0.774523
NPC2 Niemann-Pick disease, type C2 0.768393
RAPSN receptor-associated protein of the synapse 0.758601
CST7 cystatin F (leukocystatin) 0.741111
TKT transketolase 0.737865
GDAP1 ganglioside induced differentiation associated protein 1 0.735027
MUSK muscle, skeletal, receptor tyrosine kinase 0.717232
UCN urocortin 0.711587
OMG oligodendrocyte myelin glycoprotein 0.709169
MFN2 mitofusin 2 0.707157
ACTA1 actin, alpha 1, skeletal muscle 0.700321
FGF14 fibroblast growth factor 14 0.694301
TK2 thymidine kinase 2, mitochondrial 0.687491
NUMB numb homolog (Drosophila) 0.681894
ECEL1 endothelin converting enzyme-like 1 0.680297
SIL1 SIL1 nucleotide exchange factor 0.669936
TTBK2 tau tubulin kinase 2 0.645375
SLC9A7 solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7 0.641039
CHN1 chimerin 1 0.60186
SALL4 spalt-like transcription factor 4 0.578494
ATXN10 ataxin 10 0.573828
FRMD7 FERM domain containing 7 0.568386
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like 0.559839
MAG myelin associated glycoprotein 0.55712
PRKCG protein kinase C, gamma 0.541217
FXN frataxin 0.526904
MT-ATP8 ATP synthase F0 subunit 8 0.514186
ACHE acetylcholinesterase (Yt blood group) 0.497703
AMER1 APC membrane recruitment protein 1 0.491978
PSENEN presenilin enhancer gamma secretase subunit 0.491597
PNMA2 paraneoplastic Ma antigen 2 0.471846
TRDN triadin 0.461639
HES4 hes family bHLH transcription factor 4 0.460506
ICT1 immature colon carcinoma transcript 1 0.44129
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6 0.433772
TRH thyrotropin-releasing hormone 0.433397
BEAN1 brain expressed, associated with NEDD4, 1 0.432646
PNMA1 paraneoplastic Ma antigen 1 0.430017
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) 0.42214
CRAT carnitine O-acetyltransferase 0.416147
SDCBP syndecan binding protein (syntenin) 0.404557
TNNT1 troponin T type 1 (skeletal, slow) 0.403438
HCRT hypocretin (orexin) neuropeptide precursor 0.387051
PLEC plectin 0.385193
POMC proopiomelanocortin 0.38111
TPM2 tropomyosin 2 (beta) 0.377031
EXO1 exonuclease 1 0.371107
MBP myelin basic protein 0.355972
SURF1 surfeit 1 0.344574
THEM4 thioesterase superfamily member 4 0.343106
BMP2K BMP2 inducible kinase 0.335412
TTPA tocopherol (alpha) transfer protein 0.317182
CRABP2 cellular retinoic acid binding protein 2 0.316819
GFER growth factor, augmenter of liver regeneration 0.297291
DYNLT1 dynein, light chain, Tctex-type 1 0.293694
ACPP acid phosphatase, prostate 0.272597
TPM1 tropomyosin 1 (alpha) 0.261599
DPYSL5 dihydropyrimidinase-like 5 0.261599
PYGB phosphorylase, glycogen; brain 0.248905
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family) 0.247501
PYGL phosphorylase, glycogen, liver 0.245747
BTD biotinidase 0.242245
AMPH amphiphysin 0.230409
GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone) 0.230409
OPA1 optic atrophy 1 (autosomal dominant) 0.225229
SLC25A16 solute carrier family 25 (mitochondrial carrier), member 16 0.222479
PYGM phosphorylase, glycogen, muscle 0.221793
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) 0.211261
MPV17 MpV17 mitochondrial inner membrane protein 0.204593
TPM3 tropomyosin 3 0.202618
UGCG UDP-glucose ceramide glucosyltransferase 0.201635
SYP synaptophysin 0.192344
AQP4 aquaporin 4 0.179802
TFAM transcription factor A, mitochondrial 0.178403
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase 0.176215
INA internexin neuronal intermediate filament protein, alpha 0.171785
BCHE butyrylcholinesterase 0.158266
CXCR5 chemokine (C-X-C motif) receptor 5 0.152104
HEXA hexosaminidase A (alpha polypeptide) 0.144614
PTCH1 patched 1 0.144031
PSEN1 presenilin 1 0.142758
IFNB1 interferon, beta 1, fibroblast 0.141943
NF1 neurofibromin 1 0.141292
F3 coagulation factor III (thromboplastin, tissue factor) 0.136327