mitochondrial encephalomyopathy Gene Set

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

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

Symbol Name Standardized Value
TK2 thymidine kinase 2, mitochondrial 1.80562
MTERF1 mitochondrial transcription termination factor 1 1.78534
FASTKD2 FAST kinase domains 2 1.77451
NPTX2 neuronal pentraxin II 1.73687
FASTKD3 FAST kinase domains 3 1.63859
LARS2 leucyl-tRNA synthetase 2, mitochondrial 1.47154
ELOVL7 ELOVL fatty acid elongase 7 1.44123
FASTKD1 FAST kinase domains 1 1.39433
FBXL4 F-box and leucine-rich repeat protein 4 1.38516
MRPS16 mitochondrial ribosomal protein S16 1.3712
NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa 1.3664
TRMU tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase 1.33676
RARS2 arginyl-tRNA synthetase 2, mitochondrial 1.33414
NDUFA8 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa 1.27563
NDUFAF4 NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 1.25645
KLHL17 kelch-like family member 17 1.25602
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit 1.21738
POLG polymerase (DNA directed), gamma 1.20613
DARS2 aspartyl-tRNA synthetase 2, mitochondrial 1.17722
ACAD9 acyl-CoA dehydrogenase family, member 9 1.08579
TFAM transcription factor A, mitochondrial 1.05093
NDUFAF2 NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 1.04882
COQ7 coenzyme Q7 homolog, ubiquinone (yeast) 1.04083
FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial 1.03998
GFM1 G elongation factor, mitochondrial 1 0.954525
PC pyruvate carboxylase 0.924213
TSFM Ts translation elongation factor, mitochondrial 0.913492
VDAC1 voltage-dependent anion channel 1 0.8741
NDUFS1 NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) 0.865502
SDF4 stromal cell derived factor 4 0.854859
DARS aspartyl-tRNA synthetase 0.788033
ERCC8 excision repair cross-complementation group 8 0.770844
LARS leucyl-tRNA synthetase 0.75412
VDAC2 voltage-dependent anion channel 2 0.716021
COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase 0.708364
COQ9 coenzyme Q9 0.701928
MFF mitochondrial fission factor 0.678701
C1QTNF5 C1q and tumor necrosis factor related protein 5 0.663975
MT-ATP8 ATP synthase F0 subunit 8 0.647743
C10ORF2 chromosome 10 open reading frame 2 0.61866
CRAT carnitine O-acetyltransferase 0.581606
PLCE1 phospholipase C, epsilon 1 0.545868
PFKFB3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 0.544318
CLN5 ceroid-lipofuscinosis, neuronal 5 0.533475
AIPL1 aryl hydrocarbon receptor interacting protein-like 1 0.529608
GHRH growth hormone releasing hormone 0.503824
CS citrate synthase 0.48893
INS insulin 0.487788
NR2E3 nuclear receptor subfamily 2, group E, member 3 0.479047
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1 0.477151
GDAP1 ganglioside induced differentiation associated protein 1 0.476772
PFKM phosphofructokinase, muscle 0.475634
TPP1 tripeptidyl peptidase I 0.472225
NDUFS2 NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase) 0.460129
AMPD1 adenosine monophosphate deaminase 1 0.446182
COL4A1 collagen, type IV, alpha 1 0.445805
LRBA LPS-responsive vesicle trafficking, beach and anchor containing 0.437154
FES FES proto-oncogene, tyrosine kinase 0.416521
PINK1 PTEN induced putative kinase 1 0.402692
TYMP thymidine phosphorylase 0.381852
BTD biotinidase 0.366301
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like 0.361502
CD2AP CD2-associated protein 0.360395
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) 0.347511
ACTN4 actinin, alpha 4 0.337608
MPV17 MpV17 mitochondrial inner membrane protein 0.325916
NDUFB11 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa 0.32373
CA8 carbonic anhydrase VIII 0.322273
ASS1 argininosuccinate synthase 1 0.317909
PHB prohibitin 0.307757
RPGR retinitis pigmentosa GTPase regulator 0.295851
INA internexin neuronal intermediate filament protein, alpha 0.285802
CSTB cystatin B (stefin B) 0.276514
HK2 hexokinase 2 0.268332
FH fumarate hydratase 0.264785
CLN3 ceroid-lipofuscinosis, neuronal 3 0.260891
OTC ornithine carbamoyltransferase 0.253831
ACO2 aconitase 2, mitochondrial 0.253479
PLP1 proteolipid protein 1 0.251718
MFN2 mitofusin 2 0.251015
NDUFS7 NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) 0.248203
MTTP microsomal triglyceride transfer protein 0.248203
GCG glucagon 0.245046
SOD2 superoxide dismutase 2, mitochondrial 0.233878
TRPC6 transient receptor potential cation channel, subfamily C, member 6 0.233878
RPE65 retinal pigment epithelium-specific protein 65kDa 0.230409
C1QBP complement component 1, q subcomponent binding protein 0.228333
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase) 0.227988
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 0.225573
RNASE2 ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin) 0.22145
CAT catalase 0.212271
HLA-DRB4 major histocompatibility complex, class II, DR beta 4 0.211597
ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase 0.208245
DNAH8 dynein, axonemal, heavy chain 8 0.207912
CRYZ crystallin, zeta (quinone reductase) 0.204593
MB myoglobin 0.201635
AHSG alpha-2-HS-glycoprotein 0.198709
XRCC6 X-ray repair complementing defective repair in Chinese hamster cells 6 0.19742
WFS1 Wolfram syndrome 1 (wolframin) 0.196459
GDF15 growth differentiation factor 15 0.194865
HLA-DRB5 major histocompatibility complex, class II, DR beta 5 0.194232
GOLPH3 golgi phosphoprotein 3 (coat-protein) 0.182086
GH1 growth hormone 1 0.177301
NPS neuropeptide S 0.175947
PNP purine nucleoside phosphorylase 0.174881
MMP1 matrix metallopeptidase 1 0.171535
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma 0.170789
NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin) 0.165001
DCX doublecortin 0.163938
MAP4 microtubule-associated protein 4 0.143288
TAP1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) 0.142302
GPX1 glutathione peroxidase 1 0.142139
MMP14 matrix metallopeptidase 14 (membrane-inserted) 0.142018
F2R coagulation factor II (thrombin) receptor 0.142012
MAP2 microtubule-associated protein 2 0.141607
PIDD1 p53-induced death domain protein 1 0.141586
NPHS1 nephrosis 1, congenital, Finnish type (nephrin) 0.140593
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1 0.140013
ERBB3 erb-b2 receptor tyrosine kinase 3 0.139855
TPO thyroid peroxidase 0.139149
TNFSF10 tumor necrosis factor (ligand) superfamily, member 10 0.135605
AKT1 v-akt murine thymoma viral oncogene homolog 1 0.13443