chronic progressive external ophthalmoplegia Gene Set

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

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

Symbol Name Standardized Value
POLG polymerase (DNA directed), gamma 2.95594
C10ORF2 chromosome 10 open reading frame 2 2.84234
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 2.27375
POLG2 polymerase (DNA directed), gamma 2, accessory subunit 2.24683
NPTX2 neuronal pentraxin II 1.87975
RRM2B ribonucleotide reductase M2 B (TP53 inducible) 1.87515
DGUOK deoxyguanosine kinase 1.54318
TYMP thymidine phosphorylase 1.39258
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit 1.31712
MRPL43 mitochondrial ribosomal protein L43 1.29047
MPV17 MpV17 mitochondrial inner membrane protein 0.967083
MT-ATP8 ATP synthase F0 subunit 8 0.920911
CS citrate synthase 0.879424
NDUFS8 NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase) 0.849945
TMEM126A transmembrane protein 126A 0.847488
NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa 0.811821
CHML choroideremia-like (Rab escort protein 2) 0.797052
TFAM transcription factor A, mitochondrial 0.768393
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive) 0.753713
TK2 thymidine kinase 2, mitochondrial 0.71078
PABPN1 poly(A) binding protein, nuclear 1 0.635921
POLI polymerase (DNA directed) iota 0.620617
UCN urocortin 0.615138
SUCLG1 succinate-CoA ligase, alpha subunit 0.605762
OPA1 optic atrophy 1 (autosomal dominant) 0.60342
DNA2 DNA replication helicase/nuclease 2 0.561392
ATP5O ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit 0.549359
CKAP5 cytoskeleton associated protein 5 0.498467
PDCD5 programmed cell death 5 0.490454
HES4 hes family bHLH transcription factor 4 0.482464
COX4I1 cytochrome c oxidase subunit IV isoform 1 0.452208
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) 0.443923
DLD dihydrolipoamide dehydrogenase 0.423265
ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain 0.408292
GDAP1 ganglioside induced differentiation associated protein 1 0.369997
QDPR quinoid dihydropteridine reductase 0.349349
CKMT2 creatine kinase, mitochondrial 2 (sarcomeric) 0.333218
ATXN7 ataxin 7 0.324458
PHGDH phosphoglycerate dehydrogenase 0.320454
DYNLT1 dynein, light chain, Tctex-type 1 0.31464
COL4A1 collagen, type IV, alpha 1 0.307395
FOLR1 folate receptor 1 (adult) 0.284371
SPAST spastin 0.283655
PYGB phosphorylase, glycogen; brain 0.269398
PYGL phosphorylase, glycogen, liver 0.266203
PTGDR prostaglandin D2 receptor (DP) 0.264431
BTD biotinidase 0.26266
DNAH8 dynein, axonemal, heavy chain 8 0.246448
PYGM phosphorylase, glycogen, muscle 0.241895
FBP1 fructose-1,6-bisphosphatase 1 0.235616
EEF1A1 eukaryotic translation elongation factor 1 alpha 1 0.228333
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like 0.226952
SOD2 superoxide dismutase 2, mitochondrial 0.215314
OGDH oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 0.208579
PHB prohibitin 0.207578
BCKDHA branched chain keto acid dehydrogenase E1, alpha polypeptide 0.202946
PTH parathyroid hormone 0.201635
PTN pleiotrophin 0.201308
PC pyruvate carboxylase 0.180367
OTC ornithine carbamoyltransferase 0.164149
INS insulin 0.163938
ACO2 aconitase 2, mitochondrial 0.163938
PLP1 proteolipid protein 1 0.162908
MTTP microsomal triglyceride transfer protein 0.161139
SDF4 stromal cell derived factor 4 0.160574
ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase 0.144822
MAG myelin associated glycoprotein 0.144213
LAMA2 laminin, alpha 2 0.143982
GAA glucosidase, alpha; acid 0.143951
HLA-DRB4 major histocompatibility complex, class II, DR beta 4 0.143915
CALB1 calbindin 1, 28kDa 0.143896
INSR insulin receptor 0.143864
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1 0.143859
GCG glucagon 0.143802
WRN Werner syndrome, RecQ helicase-like 0.143531
PIDD1 p53-induced death domain protein 1 0.143128
FUS FUS RNA binding protein 0.142242
LOX lysyl oxidase 0.142225
LRRK2 leucine-rich repeat kinase 2 0.141749
MGP matrix Gla protein 0.141137