mitochondrial metabolism disease Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description An inherited metabolic disorder that involves mitochondrial metabolism dysfunction. (Human Disease Ontology, DOID_700)
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Genes

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

Symbol Name Standardized Value
SURF1 surfeit 1 2.97261
POLG polymerase (DNA directed), gamma 2.73444
C10ORF2 chromosome 10 open reading frame 2 2.53582
NPTX2 neuronal pentraxin II 2.17601
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 2.08267
POLG2 polymerase (DNA directed), gamma 2, accessory subunit 1.93092
NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa 1.92295
SCO2 SCO2 cytochrome c oxidase assembly protein 1.82323
NDUFS8 NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase) 1.82278
LRPPRC leucine-rich pentatricopeptide repeat containing 1.73641
NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa 1.6986
COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor 1.67051
RRM2B ribonucleotide reductase M2 B (TP53 inducible) 1.58091
DGUOK deoxyguanosine kinase 1.5507
TACO1 translational activator of mitochondrially encoded cytochrome c oxidase I 1.54584
COX15 cytochrome c oxidase assembly homolog 15 (yeast) 1.52292
NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 1.51721
TK2 thymidine kinase 2, mitochondrial 1.49569
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1 1.47198
NDUFS1 NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) 1.46715
PUS1 pseudouridylate synthase 1 1.46276
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit 1.45748
NDUFAF5 NADH dehydrogenase (ubiquinone) complex I, assembly factor 5 1.42147
SDHAF1 succinate dehydrogenase complex assembly factor 1 1.40789
TFAM transcription factor A, mitochondrial 1.37512
MTERF1 mitochondrial transcription termination factor 1 1.36858
FASTKD2 FAST kinase domains 2 1.35768
PC pyruvate carboxylase 1.35594
CS citrate synthase 1.3542
TRMU tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase 1.34548
SLC19A3 solute carrier family 19 (thiamine transporter), member 3 1.31712
NDUFAF2 NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 1.31056
TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast) 1.30095
SCO1 SCO1 cytochrome c oxidase assembly protein 1.28479
GATB glutamyl-tRNA(Gln) amidotransferase, subunit B 1.27126
PTCD1 pentatricopeptide repeat domain 1 1.26778
NDUFA8 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa 1.2656
GFM1 G elongation factor, mitochondrial 1 1.26298
MTFMT mitochondrial methionyl-tRNA formyltransferase 1.2595
TYMP thymidine phosphorylase 1.25558
FASTKD3 FAST kinase domains 3 1.22735
MT-ATP8 ATP synthase F0 subunit 8 1.18755
NDUFAF1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 1 1.17335
PDHB pyruvate dehydrogenase (lipoamide) beta 1.16521
NDUFS2 NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase) 1.16008
COX7A2L cytochrome c oxidase subunit VIIa polypeptide 2 like 1.1588
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase) 1.15538
NDUFS7 NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) 1.13416
FDX1L ferredoxin 1-like 1.12909
SUCLG1 succinate-CoA ligase, alpha subunit 1.12403
BOLA3 bolA family member 3 1.09545
NDUFA12 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12 1.0669
LARS2 leucyl-tRNA synthetase 2, mitochondrial 1.06648
GYG2 glycogenin 2 1.05513
TMEM70 transmembrane protein 70 1.05051
ELOVL7 ELOVL fatty acid elongase 7 1.03746
PDHX pyruvate dehydrogenase complex, component X 1.02524
PUS3 pseudouridylate synthase 3 1.02313
KLHL17 kelch-like family member 17 1.02018
MRPL43 mitochondrial ribosomal protein L43 1.01259
DARS2 aspartyl-tRNA synthetase 2, mitochondrial 1.01216
COX17 COX17 cytochrome c oxidase copper chaperone 1.00668
FASTKD1 FAST kinase domains 1 0.992752
FBXL4 F-box and leucine-rich repeat protein 4 0.9839
NDUFB3 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa 0.983479
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like 0.981373
NDUFA2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa 0.979268
C12ORF65 chromosome 12 open reading frame 65 0.9717
MTRF1L mitochondrial translational release factor 1-like 0.97002
MTRF1 mitochondrial translational release factor 1 0.97002
MRPS16 mitochondrial ribosomal protein S16 0.97002
COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase 0.958705
DLD dihydrolipoamide dehydrogenase 0.952021
AARS2 alanyl-tRNA synthetase 2, mitochondrial 0.951187
SERAC1 serine active site containing 1 0.94577
TSFM Ts translation elongation factor, mitochondrial 0.94078
YARS2 tyrosyl-tRNA synthetase 2, mitochondrial 0.935799
RARS2 arginyl-tRNA synthetase 2, mitochondrial 0.934556
NDUFS6 NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase) 0.933727
MPV17 MpV17 mitochondrial inner membrane protein 0.928759
ATP5E ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit 0.928346
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp) 0.922561
NDUFA10 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa 0.911022
DNAH8 dynein, axonemal, heavy chain 8 0.900335
COX11 COX11 cytochrome c oxidase copper chaperone 0.891308
SFSWAP splicing factor, suppressor of white-apricot family 0.881472
NDUFAF4 NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 0.861818
ACO2 aconitase 2, mitochondrial 0.852402
GLRX5 glutaredoxin 5 0.851173
UCN urocortin 0.847898
GALNT9 polypeptide N-acetylgalactosaminyltransferase 9 0.842163
LIAS lipoic acid synthetase 0.840525
PABPN1 poly(A) binding protein, nuclear 1 0.840525
TIMM13 translocase of inner mitochondrial membrane 13 homolog (yeast) 0.836017
RMND1 required for meiotic nuclear division 1 homolog (S. cerevisiae) 0.80936
IARS2 isoleucyl-tRNA synthetase 2, mitochondrial 0.806488
PDP2 pyruvate dehyrogenase phosphatase catalytic subunit 2 0.795821
TTC19 tetratricopeptide repeat domain 19 0.788033
CRLS1 cardiolipin synthase 1 0.786394
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) 0.783936
NDUFA9 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa 0.778204
MARS2 methionyl-tRNA synthetase 2, mitochondrial 0.768801
THTPA thiamine triphosphatase 0.756971
HIBCH 3-hydroxyisobutyryl-CoA hydrolase 0.749644
LIPT1 lipoyltransferase 1 0.743547
NDUFB6 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa 0.725311
PFKM phosphofructokinase, muscle 0.714408
SLIRP SRA stem-loop interacting RNA binding protein 0.712796
ACAD9 acyl-CoA dehydrogenase family, member 9 0.699116
ISCU iron-sulfur cluster assembly enzyme 0.695103
DSCR8 Down syndrome critical region 8 0.692697
PYGB phosphorylase, glycogen; brain 0.688291
CKMT2 creatine kinase, mitochondrial 2 (sarcomeric) 0.687491
PYGL phosphorylase, glycogen, liver 0.684692
ATP5O ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit 0.66914
SLC25A38 solute carrier family 25, member 38 0.664769
PYGM phosphorylase, glycogen, muscle 0.657234
COQ7 coenzyme Q7 homolog, ubiquinone (yeast) 0.656046
FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial 0.65565
NDC1 NDC1 transmembrane nucleoporin 0.64577
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive) 0.643009
SDF4 stromal cell derived factor 4 0.630813
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa 0.625711
NDUFA4 NDUFA4, mitochondrial complex associated 0.622967
CKAP5 cytoskeleton associated protein 5 0.616703
ANO3 anoctamin 3 0.605372
DNAJC19 DnaJ (Hsp40) homolog, subfamily C, member 19 0.591337
TMEM126A transmembrane protein 126A 0.585887
CCT3 chaperonin containing TCP1, subunit 3 (gamma) 0.5645
OPA1 optic atrophy 1 (autosomal dominant) 0.556344
CHML choroideremia-like (Rab escort protein 2) 0.537731
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha 0.529222
GNAL guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type 0.528835
CIZ1 CDKN1A interacting zinc finger protein 1 0.513802
ECHS1 enoyl CoA hydratase, short chain, 1, mitochondrial 0.506123
VDAC1 voltage-dependent anion channel 1 0.500761
INS insulin 0.496939
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip) 0.495793
NFU1 NFU1 iron-sulfur cluster scaffold 0.490835
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein 0.489691
SOD2 superoxide dismutase 2, mitochondrial 0.486266
GDAP1 ganglioside induced differentiation associated protein 1 0.484744
CRAT carnitine O-acetyltransferase 0.479047
ATCAY ataxia, cerebellar, Cayman type 0.477909
AMPD1 adenosine monophosphate deaminase 1 0.471089
OTC ornithine carbamoyltransferase 0.466928
UCP1 uncoupling protein 1 (mitochondrial, proton carrier) 0.463149
SDHAF2 succinate dehydrogenase complex assembly factor 2 0.457109
NDUFV2 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa 0.455224
DCAF17 DDB1 and CUL4 associated factor 17 0.453339
QDPR quinoid dihydropteridine reductase 0.446935
RAB4A RAB4A, member RAS oncogene family 0.439786
COL4A1 collagen, type IV, alpha 1 0.437154
LGALS4 lectin, galactoside-binding, soluble, 4 0.430393
FES FES proto-oncogene, tyrosine kinase 0.424014
GCSH glycine cleavage system protein H (aminomethyl carrier) 0.423265
DARS aspartyl-tRNA synthetase 0.421016
COX5A cytochrome c oxidase subunit Va 0.416147
ERCC8 excision repair cross-complementation group 8 0.405305
ALAS2 5'-aminolevulinate synthase 2 0.404557
PDSS2 prenyl (decaprenyl) diphosphate synthase, subunit 2 0.393746
LARS leucyl-tRNA synthetase 0.390025
MB myoglobin 0.387794
MMP17 matrix metallopeptidase 17 (membrane-inserted) 0.387423
PDP1 pyruvate dehyrogenase phosphatase catalytic subunit 1 0.379626
BTD biotinidase 0.373698
MTO1 mitochondrial tRNA translation optimization 1 0.372217
POLI polymerase (DNA directed) iota 0.371847
PPARG peroxisome proliferator-activated receptor gamma 0.364085
CTNNA2 catenin (cadherin-associated protein), alpha 2 0.363716
NR2C2 nuclear receptor subfamily 2, group C, member 2 0.362239
COX4I1 cytochrome c oxidase subunit IV isoform 1 0.357446
VDAC2 voltage-dependent anion channel 2 0.355604
DMD dystrophin 0.351187
DNA2 DNA replication helicase/nuclease 2 0.348614
EP400 E1A binding protein p400 0.346777
NDUFS3 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) 0.344574
COQ9 coenzyme Q9 0.342739
MSH5 mutS homolog 5 0.340539
PAPSS1 3'-phosphoadenosine 5'-phosphosulfate synthase 1 0.337975
EEF1A1 eukaryotic translation elongation factor 1 alpha 1 0.337242
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1 0.336876
MFN2 mitofusin 2 0.334681
GAA glucosidase, alpha; acid 0.333218
OGDH oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 0.332852
GYS1 glycogen synthase 1 (muscle) 0.331025
FGF21 fibroblast growth factor 21 0.32701
CDSN corneodesmosin 0.326646
MFF mitochondrial fission factor 0.321181
ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7 0.319363
GCG glucagon 0.317909
PHB prohibitin 0.315366
C1QTNF5 C1q and tumor necrosis factor related protein 5 0.308118
FXN frataxin 0.305226
THAP1 THAP domain containing, apoptosis associated protein 1 0.30342
ETFDH electron-transferring-flavoprotein dehydrogenase 0.300533
GHRH growth hormone releasing hormone 0.300173
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6 0.295492
RANBP2 RAN binding protein 2 0.291539
HMGCL 3-hydroxymethyl-3-methylglutaryl-CoA lyase 0.290821
GLDC glycine dehydrogenase (decarboxylating) 0.289744
ADD3 adducin 3 (gamma) 0.289386
AHSG alpha-2-HS-glycoprotein 0.281153
SLC27A1 solute carrier family 27 (fatty acid transporter), member 1 0.280796
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide 0.278297
NDUFA5 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 0.271174
SAMD11 sterile alpha motif domain containing 11 0.270819
DLAT dihydrolipoamide S-acetyltransferase 0.270108
SOX6 SRY (sex determining region Y)-box 6 0.265494
GCH1 GTP cyclohydrolase 1 0.255946
PDCD5 programmed cell death 5 0.250663
HES4 hes family bHLH transcription factor 4 0.243295
GPX1 glutathione peroxidase 1 0.23666
HSCB HscB mitochondrial iron-sulfur cluster co-chaperone 0.23492
SUOX sulfite oxidase 0.22937
IFI30 interferon, gamma-inducible protein 30 0.228679
ICT1 immature colon carcinoma transcript 1 0.225573
BPGM 2,3-bisphosphoglycerate mutase 0.221793
ENO3 enolase 3 (beta, muscle) 0.220424
PGAM2 phosphoglycerate mutase 2 (muscle) 0.219398
PGK1 phosphoglycerate kinase 1 0.20229
PLCE1 phospholipase C, epsilon 1 0.20229
PFKFB3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 0.200656
AK1 adenylate kinase 1 0.200006
ULK1 unc-51 like autophagy activating kinase 1 0.199033
NRF1 nuclear respiratory factor 1 0.1936
CLN5 ceroid-lipofuscinosis, neuronal 5 0.191719
AIPL1 aryl hydrocarbon receptor interacting protein-like 1 0.188938
SLC16A1 solute carrier family 16 (monocarboxylate transporter), member 1 0.18651
CAT catalase 0.182375
ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain 0.178682
FLAD1 flavin adenine dinucleotide synthetase 1 0.178403
SLC16A4 solute carrier family 16, member 4 0.174093
EYA1 EYA transcriptional coactivator and phosphatase 1 0.173314
SIX2 SIX homeobox 2 0.173057
PGAM1 phosphoglycerate mutase 1 (brain) 0.172291
PCYT1A phosphate cytidylyltransferase 1, choline, alpha 0.171535
LAMA2 laminin, alpha 2 0.170544
HLA-DRB4 major histocompatibility complex, class II, DR beta 4 0.167224
SLC16A3 solute carrier family 16 (monocarboxylate transporter), member 3 0.163111
HSPD1 heat shock 60kDa protein 1 (chaperonin) 0.157929
ALS2 amyotrophic lateral sclerosis 2 (juvenile) 0.14267
TIMM23 translocase of inner mitochondrial membrane 23 homolog (yeast) 0.141851
SLC19A2 solute carrier family 19 (thiamine transporter), member 2 0.141288
ARSH arylsulfatase family, member H 0.137534
BTK Bruton agammaglobulinemia tyrosine kinase 0.137182
COL6A3 collagen, type VI, alpha 3 0.126915
HFE hemochromatosis 0.125624
GZMM granzyme M (lymphocyte met-ase 1) 0.125386
GCDH glutaryl-CoA dehydrogenase 0.123522
NDUFAB1 NADH dehydrogenase (ubiquinone) 1, alpha/beta subcomplex, 1, 8kDa 0.122406
SETD1A SET domain containing 1A 0.122174
SACS sacsin molecular chaperone 0.121791
ATP11A ATPase, class VI, type 11A 0.121001
MRPS7 mitochondrial ribosomal protein S7 0.119389
MARS methionyl-tRNA synthetase 0.115248
NFIC nuclear factor I/C (CCAAT-binding transcription factor) 0.112311
TKT transketolase 0.112223
NFIX nuclear factor I/X (CCAAT-binding transcription factor) 0.112047