Leigh Disease Gene Set

Dataset DisGeNET Gene-Disease Associations
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)
External Link https://www.disgenet.org/browser/0/1/0/C0023264
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Genes

142 genes associated with the disease Leigh Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ABCC1 ATP-binding cassette, sub-family C (CFTR/MRP), member 1
ADAR adenosine deaminase, RNA-specific
ATN1 atrophin 1
ATP11A ATPase, class VI, type 11A
ATP5E ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit
ATP5MK ATP synthase membrane subunit k
ATP5PF ATP synthase peripheral stalk subunit F6
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
C12ORF65 chromosome 12 open reading frame 65
C19ORF12 chromosome 19 open reading frame 12
CDSN corneodesmosin
COQ4 coenzyme Q4
COQ8A coenzyme Q8A
COX1
COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
COX15 cytochrome c oxidase assembly homolog 15 (yeast)
COX3
COX4I1 cytochrome c oxidase subunit IV isoform 1
COX5A cytochrome c oxidase subunit Va
COX8A cytochrome c oxidase subunit VIIIA (ubiquitous)
CPOX coproporphyrinogen oxidase
CRAT carnitine O-acetyltransferase
CUTC cutC copper transporter
DLD dihydrolipoamide dehydrogenase
ECHS1 enoyl CoA hydratase, short chain, 1, mitochondrial
EDN1 endothelin 1
EMC3 ER membrane protein complex subunit 3
EME2 essential meiotic structure-specific endonuclease subunit 2
ETHE1 ethylmalonic encephalopathy 1
FARP2 FERM, RhoGEF and pleckstrin domain protein 2
FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial
FOXRED1 FAD-dependent oxidoreductase domain containing 1
FXN frataxin
GFM1 G elongation factor, mitochondrial 1
GFM2 G elongation factor, mitochondrial 2
GH1 growth hormone 1
GHR growth hormone receptor
GNA12 guanine nucleotide binding protein (G protein) alpha 12
GTPBP3 GTP binding protein 3 (mitochondrial)
GYG2 glycogenin 2
HIBCH 3-hydroxyisobutyryl-CoA hydrolase
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HSD17B6 hydroxysteroid (17-beta) dehydrogenase 6
IARS2 isoleucyl-tRNA synthetase 2, mitochondrial
KIDINS220 kinase D-interacting substrate, 220kDa
KITLG KIT ligand
LAMA2 laminin, alpha 2
LIAS lipoic acid synthetase
LIPT1 lipoyltransferase 1
LRPPRC leucine-rich pentatricopeptide repeat containing
MARCKSL1 MARCKS-like 1
MRC1 mannose receptor, C type 1
MRPS34 mitochondrial ribosomal protein S34
MSH2 mutS homolog 2
MSH6 mutS homolog 6
MT-ATP6 ATP synthase F0 subunit 6
MT-ATP8 ATP synthase F0 subunit 8
MT-CYB cytochrome b
MT-ND2 MTND2
MT-ND3 NADH dehydrogenase, subunit 3 (complex I)
MT-ND4 NADH dehydrogenase, subunit 4 (complex I)
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MTFMT mitochondrial methionyl-tRNA formyltransferase
MTO1 mitochondrial tRNA translation optimization 1
MTOR mechanistic target of rapamycin (serine/threonine kinase)
NARS2 asparaginyl-tRNA synthetase 2, mitochondrial (putative)
ND1
NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
NDUFA10 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa
NDUFA12 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12
NDUFA2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
NDUFA5 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5
NDUFA9 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa
NDUFAF2 NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
NDUFAF3 NADH dehydrogenase (ubiquinone) complex I, assembly factor 3
NDUFAF4 NADH dehydrogenase (ubiquinone) complex I, assembly factor 4
NDUFAF5 NADH dehydrogenase (ubiquinone) complex I, assembly factor 5
NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
NDUFS1 NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NDUFS2 NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
NDUFS3 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NDUFS6 NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)
NDUFS7 NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
NDUFS8 NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)
NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
NDUFV2 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
NF1 neurofibromin 1
NPTX2 neuronal pentraxin II
OGDH oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)
PANK2 pantothenate kinase 2
PARL presenilin associated, rhomboid-like
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
PDHB pyruvate dehydrogenase (lipoamide) beta
PDHX pyruvate dehydrogenase complex, component X
PDK1 pyruvate dehydrogenase kinase, isozyme 1
PDP1 pyruvate dehyrogenase phosphatase catalytic subunit 1
PDSS2 prenyl (decaprenyl) diphosphate synthase, subunit 2
PET100 PET100 homolog (S. cerevisiae)
PET117 PET117 homolog (S. cerevisiae)
PGD phosphogluconate dehydrogenase
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
PNPT1 polyribonucleotide nucleotidyltransferase 1
POLG polymerase (DNA directed), gamma
PTCD3 pentatricopeptide repeat domain 3
PTGS1 prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RANBP2 RAN binding protein 2
RPS6KB1 ribosomal protein S6 kinase, 70kDa, polypeptide 1
SCO2 SCO2 cytochrome c oxidase assembly protein
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SDHAF1 succinate dehydrogenase complex assembly factor 1
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SLC19A3 solute carrier family 19 (thiamine transporter), member 3
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
SLC25A46 solute carrier family 25, member 46
SLC39A8 solute carrier family 39 (zinc transporter), member 8
SLIRP SRA stem-loop interacting RNA binding protein
SOD2 superoxide dismutase 2, mitochondrial
SRSF2 serine/arginine-rich splicing factor 2
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit
SUCLG1 succinate-CoA ligase, alpha subunit
SURF1 surfeit 1
TACO1 translational activator of mitochondrially encoded cytochrome c oxidase I
TBPL1 TBP-like 1
TFPI tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)
TIMMDC1 translocase of inner mitochondrial membrane domain containing 1
TKT transketolase
TNF tumor necrosis factor
TPK1 thiamin pyrophosphokinase 1
TRMU tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
TSFM Ts translation elongation factor, mitochondrial
TTC19 tetratricopeptide repeat domain 19
TXNRD1 thioredoxin reductase 1
TYMP thymidine phosphorylase
TYRP1 tyrosinase-related protein 1
UQCRQ ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa
URI1 URI1, prefoldin-like chaperone
VTN vitronectin
WLS wntless Wnt ligand secretion mediator