mitochondrial myopathy Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A myopathy that is characterized by mitochondrial dysfunction. (Human Disease Ontology, DOID_699)
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Genes

228 genes co-occuring with the disease mitochondrial myopathy 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 2.8134
C10ORF2 chromosome 10 open reading frame 2 2.64951
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 2.16654
POLG2 polymerase (DNA directed), gamma 2, accessory subunit 2.03831
NPTX2 neuronal pentraxin II 1.93702
RRM2B ribonucleotide reductase M2 B (TP53 inducible) 1.68544
DGUOK deoxyguanosine kinase 1.59832
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit 1.56
TK2 thymidine kinase 2, mitochondrial 1.48999
MTERF1 mitochondrial transcription termination factor 1 1.47067
FASTKD2 FAST kinase domains 2 1.45968
PUS1 pseudouridylate synthase 1 1.44474
TFAM transcription factor A, mitochondrial 1.43069
NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa 1.38428
TYMP thymidine phosphorylase 1.35681
FASTKD3 FAST kinase domains 3 1.32891
CS citrate synthase 1.30445
FDX1L ferredoxin 1-like 1.22909
LARS2 leucyl-tRNA synthetase 2, mitochondrial 1.16478
MT-ATP8 ATP synthase F0 subunit 8 1.1473
ELOVL7 ELOVL fatty acid elongase 7 1.13543
PUS3 pseudouridylate synthase 3 1.12108
KLHL17 kelch-like family member 17 1.11814
MRPL43 mitochondrial ribosomal protein L43 1.11057
FASTKD1 FAST kinase domains 1 1.09083
FBXL4 F-box and leucine-rich repeat protein 4 1.08202
MRPS16 mitochondrial ribosomal protein S16 1.06816
TRMU tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase 1.03493
YARS2 tyrosyl-tRNA synthetase 2, mitochondrial 1.03325
RARS2 arginyl-tRNA synthetase 2, mitochondrial 1.0324
SFSWAP splicing factor, suppressor of white-apricot family 0.978006
NDUFA8 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa 0.976323
NDUFAF4 NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 0.957868
ACO2 aconitase 2, mitochondrial 0.947852
UCN urocortin 0.943274
GALNT9 polypeptide N-acetylgalactosaminyltransferase 9 0.937874
PABPN1 poly(A) binding protein, nuclear 1 0.936214
MPV17 MpV17 mitochondrial inner membrane protein 0.921323
PC pyruvate carboxylase 0.908553
DARS2 aspartyl-tRNA synthetase 2, mitochondrial 0.882292
NDUFAF1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 1 0.870006
GFM1 G elongation factor, mitochondrial 1 0.828229
PFKM phosphofructokinase, muscle 0.80936
ACAD9 acyl-CoA dehydrogenase family, member 9 0.793361
ISCU iron-sulfur cluster assembly enzyme 0.789672
CKMT2 creatine kinase, mitochondrial 2 (sarcomeric) 0.781888
NDUFAF2 NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 0.757786
COQ7 coenzyme Q7 homolog, ubiquinone (yeast) 0.749644
FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial 0.749237
NDC1 NDC1 transmembrane nucleoporin 0.739082
SDF4 stromal cell derived factor 4 0.723694
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like 0.717635
CKAP5 cytoskeleton associated protein 5 0.709169
PYGB phosphorylase, glycogen; brain 0.691896
PYGL phosphorylase, glycogen, liver 0.688291
NDUFS8 NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase) 0.679499
TMEM126A transmembrane protein 126A 0.677504
PYGM phosphorylase, glycogen, muscle 0.6608
CCT3 chaperonin containing TCP1, subunit 3 (gamma) 0.65565
NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa 0.642615
CHML choroideremia-like (Rab escort protein 2) 0.628457
TSFM Ts translation elongation factor, mitochondrial 0.628065
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha 0.619834
DNAH8 dynein, axonemal, heavy chain 8 0.596012
VDAC1 voltage-dependent anion channel 1 0.590558
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive) 0.587054
NDUFS1 NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) 0.582773
GDAP1 ganglioside induced differentiation associated protein 1 0.574605
SURF1 surfeit 1 0.570329
CRAT carnitine O-acetyltransferase 0.568775
AMPD1 adenosine monophosphate deaminase 1 0.560616
INS insulin 0.552463
TMEM70 transmembrane protein 70 0.552463
RAB4A RAB4A, member RAS oncogene family 0.528449
COL4A1 collagen, type IV, alpha 1 0.525746
FES FES proto-oncogene, tyrosine kinase 0.512264
DARS aspartyl-tRNA synthetase 0.509192
SOD2 superoxide dismutase 2, mitochondrial 0.495411
ERCC8 excision repair cross-complementation group 8 0.493122
COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor 0.477909
LARS leucyl-tRNA synthetase 0.47753
MB myoglobin 0.475255
MMP17 matrix metallopeptidase 17 (membrane-inserted) 0.474877
BTD biotinidase 0.460883
POLI polymerase (DNA directed) iota 0.458996
CTNNA2 catenin (cadherin-associated protein), alpha 2 0.450701
NR2C2 nuclear receptor subfamily 2, group C, member 2 0.449194
SUCLG1 succinate-CoA ligase, alpha subunit 0.444676
COX4I1 cytochrome c oxidase subunit IV isoform 1 0.4443
OPA1 optic atrophy 1 (autosomal dominant) 0.442418
VDAC2 voltage-dependent anion channel 2 0.442418
DMD dystrophin 0.437906
COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase 0.435275
DNA2 DNA replication helicase/nuclease 2 0.435275
EP400 E1A binding protein p400 0.433397
COQ9 coenzyme Q9 0.429266
MSH5 mutS homolog 5 0.427015
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1 0.423265
MFN2 mitofusin 2 0.421016
GAA glucosidase, alpha; acid 0.419517
GYS1 glycogen synthase 1 (muscle) 0.416896
FGF21 fibroblast growth factor 21 0.413153
MFF mitochondrial fission factor 0.407172
PHB prohibitin 0.400826
C1QTNF5 C1q and tumor necrosis factor related protein 5 0.393746
ATP5O ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit 0.390769
ETFDH electron-transferring-flavoprotein dehydrogenase 0.385936
GHRH growth hormone releasing hormone 0.385565
PPARG peroxisome proliferator-activated receptor gamma 0.382223
HMGCL 3-hydroxymethyl-3-methylglutaryl-CoA lyase 0.37592
ADD3 adducin 3 (gamma) 0.374438
SAMD11 sterile alpha motif domain containing 11 0.355235
SOX6 SRY (sex determining region Y)-box 6 0.349717
OTC ornithine carbamoyltransferase 0.344941
GCG glucagon 0.344207
PDCD5 programmed cell death 5 0.334315
HES4 hes family bHLH transcription factor 4 0.326646
NDUFS7 NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) 0.323365
HSCB HscB mitochondrial iron-sulfur cluster co-chaperone 0.317909
IFI30 interferon, gamma-inducible protein 30 0.311377
BPGM 2,3-bisphosphoglycerate mutase 0.304142
PGAM2 phosphoglycerate mutase 2 (muscle) 0.301615
COX5A cytochrome c oxidase subunit Va 0.301254
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) 0.289744
PLCE1 phospholipase C, epsilon 1 0.283297
PGK1 phosphoglycerate kinase 1 0.283297
PFKFB3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 0.28151
ULK1 unc-51 like autophagy activating kinase 1 0.279367
SCO2 SCO2 cytochrome c oxidase assembly protein 0.277227
NRF1 nuclear respiratory factor 1 0.273664
CLN5 ceroid-lipofuscinosis, neuronal 5 0.27153
DLD dihydrolipoamide dehydrogenase 0.269753
AIPL1 aryl hydrocarbon receptor interacting protein-like 1 0.268332
SLC16A1 solute carrier family 16 (monocarboxylate transporter), member 1 0.26514
ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain 0.255946
SLC16A4 solute carrier family 16, member 4 0.24996
EYA1 EYA transcriptional coactivator and phosphatase 1 0.248905
SIX2 SIX homeobox 2 0.248554
PGAM1 phosphoglycerate mutase 1 (brain) 0.247501
HLA-DRB4 major histocompatibility complex, class II, DR beta 4 0.240148
SLC16A3 solute carrier family 16 (monocarboxylate transporter), member 3 0.23353
HSPD1 heat shock 60kDa protein 1 (chaperonin) 0.223853
NR2E3 nuclear receptor subfamily 2, group E, member 3 0.222136
TPP1 tripeptidyl peptidase I 0.215653
CALB1 calbindin 1, 28kDa 0.208245
TP53INP1 tumor protein p53 inducible nuclear protein 1 0.207245
MUSK muscle, skeletal, receptor tyrosine kinase 0.205254
NDUFS2 NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase) 0.205254
GFER growth factor, augmenter of liver regeneration 0.202618
QDPR quinoid dihydropteridine reductase 0.200982
CKMT1B creatine kinase, mitochondrial 1B 0.199033
TAZ tafazzin 0.197742
ROM1 retinal outer segment membrane protein 1 0.195183
LRBA LPS-responsive vesicle trafficking, beach and anchor containing 0.185612
ECI1 enoyl-CoA delta isomerase 1 0.184128
ARHGEF12 Rho guanine nucleotide exchange factor (GEF) 12 0.182086
ATXN7 ataxin 7 0.180367
PHGDH phosphoglycerate dehydrogenase 0.177301
CAT catalase 0.173832
DYNLT1 dynein, light chain, Tctex-type 1 0.173057
MYOD1 myogenic differentiation 1 0.162505
PINK1 PTEN induced putative kinase 1 0.162306
PPIF peptidylprolyl isomerase F 0.157929
PLP1 proteolipid protein 1 0.14377
CA8 carbonic anhydrase VIII 0.14369
CD2AP CD2-associated protein 0.143621
ACTN4 actinin, alpha 4 0.143394
ASS1 argininosuccinate synthase 1 0.143176
HK2 hexokinase 2 0.143117
FOLR1 folate receptor 1 (adult) 0.142619
AHSG alpha-2-HS-glycoprotein 0.142565
TRPC6 transient receptor potential cation channel, subfamily C, member 6 0.141956
FBP1 fructose-1,6-bisphosphatase 1 0.141815
RNASE2 ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin) 0.141722
MMP1 matrix metallopeptidase 1 0.141467
OGDH oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 0.141262
XRCC6 X-ray repair complementing defective repair in Chinese hamster cells 6 0.14121
BCKDHA branched chain keto acid dehydrogenase E1, alpha polypeptide 0.141137
PTH parathyroid hormone 0.141102
PTN pleiotrophin 0.141095
GOLPH3 golgi phosphoprotein 3 (coat-protein) 0.140813
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma 0.140452
NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin) 0.140223
PIDD1 p53-induced death domain protein 1 0.140219
ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase 0.140042
MTTP microsomal triglyceride transfer protein 0.137273
MAP4 microtubule-associated protein 4 0.133086
TAP1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) 0.130104
GPX1 glutathione peroxidase 1 0.129625
MMP14 matrix metallopeptidase 14 (membrane-inserted) 0.12927
F2R coagulation factor II (thrombin) receptor 0.129252
MAP2 microtubule-associated protein 2 0.128078
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) 0.128078
NDUFB11 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa 0.12672
MAG myelin associated glycoprotein 0.125265
NPHS1 nephrosis 1, congenital, Finnish type (nephrin) 0.125192
RPGR retinitis pigmentosa GTPase regulator 0.124921
INA internexin neuronal intermediate filament protein, alpha 0.124212
SPAST spastin 0.124054
LAMA2 laminin, alpha 2 0.123896
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1 0.123577
CSTB cystatin B (stefin B) 0.123522
INSR insulin receptor 0.123196
ERBB3 erb-b2 receptor tyrosine kinase 3 0.123142
FH fumarate hydratase 0.122608
PTGDR prostaglandin D2 receptor (DP) 0.12258
CLN3 ceroid-lipofuscinosis, neuronal 3 0.12229
WRN Werner syndrome, RecQ helicase-like 0.12128
TPO thyroid peroxidase 0.121218
RPE65 retinal pigment epithelium-specific protein 65kDa 0.119587
C1QBP complement component 1, q subcomponent binding protein 0.119389
EEF1A1 eukaryotic translation elongation factor 1 alpha 1 0.119389
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase) 0.119356
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 0.119117
CRYZ crystallin, zeta (quinone reductase) 0.116908
WFS1 Wolfram syndrome 1 (wolframin) 0.115955
GDF15 growth differentiation factor 15 0.115761
HLA-DRB5 major histocompatibility complex, class II, DR beta 5 0.115683
FUS FUS RNA binding protein 0.114687
LOX lysyl oxidase 0.114605
GH1 growth hormone 1 0.113351
NPS neuropeptide S 0.113138
PNP purine nucleoside phosphorylase 0.112968
LRRK2 leucine-rich repeat kinase 2 0.112442
TNFSF10 tumor necrosis factor (ligand) superfamily, member 10 0.112267
DCX doublecortin 0.110915
MGP matrix Gla protein 0.109838
AKT1 v-akt murine thymoma viral oncogene homolog 1 0.109598