leigh disease Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A mitochondrial metabolism disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity. (Human Disease Ontology, DOID_3652)
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Genes

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

Symbol Name Standardized Value
SURF1 surfeit 1 3.39303
NPTX2 neuronal pentraxin II 2.12319
NDUFS8 NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase) 2.08962
SCO2 SCO2 cytochrome c oxidase assembly protein 2.05315
LRPPRC leucine-rich pentatricopeptide repeat containing 2.00286
NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa 1.95911
NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa 1.86689
COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor 1.86186
TACO1 translational activator of mitochondrially encoded cytochrome c oxidase I 1.80698
COX15 cytochrome c oxidase assembly homolog 15 (yeast) 1.78308
NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 1.77767
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1 1.73094
NDUFS1 NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) 1.72593
NDUFAF5 NADH dehydrogenase (ubiquinone) complex I, assembly factor 5 1.67864
SDHAF1 succinate dehydrogenase complex assembly factor 1 1.66465
SLC19A3 solute carrier family 19 (thiamine transporter), member 3 1.57111
SCO1 SCO1 cytochrome c oxidase assembly protein 1.53877
GATB glutamyl-tRNA(Gln) amidotransferase, subunit B 1.52468
PTCD1 pentatricopeptide repeat domain 1 1.5216
MTFMT mitochondrial methionyl-tRNA formyltransferase 1.51325
NDUFA8 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa 1.49964
PDHB pyruvate dehydrogenase (lipoamide) beta 1.41753
COX7A2L cytochrome c oxidase subunit VIIa polypeptide 2 like 1.41095
NDUFS2 NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase) 1.40658
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase) 1.34897
BOLA3 bolA family member 3 1.34548
NDUFAF2 NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 1.32585
NDUFS7 NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) 1.32236
NDUFA12 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12 1.31581
PC pyruvate carboxylase 1.30576
GYG2 glycogenin 2 1.30357
PDHX pyruvate dehydrogenase complex, component X 1.27257
COX17 COX17 cytochrome c oxidase copper chaperone 1.25341
NDUFB3 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa 1.22952
NDUFA2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa 1.22518
C12ORF65 chromosome 12 open reading frame 65 1.21738
MTRF1 mitochondrial translational release factor 1 1.21565
MTRF1L mitochondrial translational release factor 1-like 1.21565
COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase 1.20396
DLD dihydrolipoamide dehydrogenase 1.19704
AARS2 alanyl-tRNA synthetase 2, mitochondrial 1.19618
POLG polymerase (DNA directed), gamma 1.19359
SERAC1 serine active site containing 1 1.19014
NDUFS6 NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase) 1.17808
ATP5E ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit 1.17249
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp) 1.16606
NDUFA10 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa 1.15453
COX11 COX11 cytochrome c oxidase copper chaperone 1.13416
LIAS lipoic acid synthetase 1.08202
RMND1 required for meiotic nuclear division 1 homolog (S. cerevisiae) 1.05009
IARS2 isoleucyl-tRNA synthetase 2, mitochondrial 1.04714
TMEM70 transmembrane protein 70 1.0463
PDP2 pyruvate dehyrogenase phosphatase catalytic subunit 2 1.0362
TTC19 tetratricopeptide repeat domain 19 1.02777
DARS2 aspartyl-tRNA synthetase 2, mitochondrial 1.02692
CRLS1 cardiolipin synthase 1 1.02608
NDUFA9 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa 1.01807
NDUFAF1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 1 1.01427
MARS2 methionyl-tRNA synthetase 2, mitochondrial 1.00794
THTPA thiamine triphosphatase 0.996127
HIBCH 3-hydroxyisobutyryl-CoA hydrolase 0.988535
LIPT1 lipoyltransferase 1 0.982215
SUCLG1 succinate-CoA ligase, alpha subunit 0.965405
NDUFB6 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa 0.962891
SLIRP SRA stem-loop interacting RNA binding protein 0.950352
DSCR8 Down syndrome critical region 8 0.929587
MT-ATP8 ATP synthase F0 subunit 8 0.910199
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa 0.86018
NDUFA4 NDUFA4, mitochondrial complex associated 0.857315
DNAJC19 DnaJ (Hsp40) homolog, subfamily C, member 19 0.823718
GFM1 G elongation factor, mitochondrial 1 0.807718
TSFM Ts translation elongation factor, mitochondrial 0.804026
TRMU tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase 0.800333
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) 0.792131
DNAH8 dynein, axonemal, heavy chain 8 0.757786
ECHS1 enoyl CoA hydratase, short chain, 1, mitochondrial 0.734217
CS citrate synthase 0.724098
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip) 0.72329
NFU1 NFU1 iron-sulfur cluster scaffold 0.718039
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein 0.716828
ATCAY ataxia, cerebellar, Cayman type 0.70434
GLRX5 glutaredoxin 5 0.697109
C10ORF2 chromosome 10 open reading frame 2 0.687491
TK2 thymidine kinase 2, mitochondrial 0.682294
SDHAF2 succinate dehydrogenase complex assembly factor 2 0.682294
NDUFV2 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa 0.680297
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit 0.653671
GCSH glycine cleavage system protein H (aminomethyl carrier) 0.646559
PDSS2 prenyl (decaprenyl) diphosphate synthase, subunit 2 0.615529
PDP1 pyruvate dehyrogenase phosphatase catalytic subunit 1 0.60069
TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast) 0.596402
MTO1 mitochondrial tRNA translation optimization 1 0.592895
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like 0.572273
NDUFS3 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) 0.563723
PAPSS1 3'-phosphoadenosine 5'-phosphosulfate synthase 1 0.556732
OGDH oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 0.551298
ATP5O ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit 0.521888
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6 0.511112
RANBP2 RAN binding protein 2 0.507273
GLDC glycine dehydrogenase (decarboxylating) 0.505356
AHSG alpha-2-HS-glycoprotein 0.496175
SLC27A1 solute carrier family 27 (fatty acid transporter), member 1 0.495793
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 0.486646
DLAT dihydrolipoamide S-acetyltransferase 0.484364
UCP1 uncoupling protein 1 (mitochondrial, proton carrier) 0.470711
CDSN corneodesmosin 0.463149
SUOX sulfite oxidase 0.440538
LGALS4 lectin, galactoside-binding, soluble, 4 0.437906
ICT1 immature colon carcinoma transcript 1 0.436402
AK1 adenylate kinase 1 0.407919
FLAD1 flavin adenine dinucleotide synthetase 1 0.381481
PCYT1A phosphate cytidylyltransferase 1, choline, alpha 0.371847
GDAP1 ganglioside induced differentiation associated protein 1 0.34384
COL6A3 collagen, type VI, alpha 3 0.32701
GZMM granzyme M (lymphocyte met-ase 1) 0.302698
FXN frataxin 0.301615
QDPR quinoid dihydropteridine reductase 0.290821
GCDH glutaryl-CoA dehydrogenase 0.276514
NDUFAB1 NADH dehydrogenase (ubiquinone) 1, alpha/beta subcomplex, 1, 8kDa 0.262306
SETD1A SET domain containing 1A 0.259477
SACS sacsin molecular chaperone 0.254888
ATP11A ATPase, class VI, type 11A 0.245747
MRPS7 mitochondrial ribosomal protein S7 0.228333
EEF1A1 eukaryotic translation elongation factor 1 alpha 1 0.203933
OPA1 optic atrophy 1 (autosomal dominant) 0.191408
MARS methionyl-tRNA synthetase 0.190786
TFAM transcription factor A, mitochondrial 0.174617
NFIC nuclear factor I/C (CCAAT-binding transcription factor) 0.171036
TKT transketolase 0.170544
NFIX nuclear factor I/X (CCAAT-binding transcription factor) 0.169571