increased serum lactate Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. (Human Phenotype Ontology, HP_0002151)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002151
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Genes

73 genes associated with the increased serum lactate phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AARS2 alanyl-tRNA synthetase 2, mitochondrial
ACAT2 acetyl-CoA acetyltransferase 2
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13
AGK acylglycerol kinase
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
C10ORF2 chromosome 10 open reading frame 2
C12ORF65 chromosome 12 open reading frame 65
CA5A carbonic anhydrase VA, mitochondrial
COA5 cytochrome c oxidase assembly factor 5
COQ9 coenzyme Q9
COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
COX14 COX14 cytochrome c oxidase assembly factor
COX15 cytochrome c oxidase assembly homolog 15 (yeast)
COX20 COX20 cytochrome c oxidase assembly factor
COX6B1 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
CYC1 cytochrome c-1
EARS2 glutamyl-tRNA synthetase 2, mitochondrial
FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial
FASTKD2 FAST kinase domains 2
FBXL4 F-box and leucine-rich repeat protein 4
FOXRED1 FAD-dependent oxidoreductase domain containing 1
GFM1 G elongation factor, mitochondrial 1
GYS2 glycogen synthase 2 (liver)
ISCU iron-sulfur cluster assembly enzyme
LDHA lactate dehydrogenase A
LIAS lipoic acid synthetase
LRPPRC leucine-rich pentatricopeptide repeat containing
LYRM7 LYR motif containing 7
MPC1 mitochondrial pyruvate carrier 1
MRPL3 mitochondrial ribosomal protein L3
MRPL44 mitochondrial ribosomal protein L44
MRPS16 mitochondrial ribosomal protein S16
MRPS22 mitochondrial ribosomal protein S22
MTFMT mitochondrial methionyl-tRNA formyltransferase
MTO1 mitochondrial tRNA translation optimization 1
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
NDUFA9 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa
NDUFAF2 NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
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)
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)
OGDH oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)
PC pyruvate carboxylase
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
PDSS1 prenyl (decaprenyl) diphosphate synthase, subunit 1
PDSS2 prenyl (decaprenyl) diphosphate synthase, subunit 2
PET100 PET100 homolog (S. cerevisiae)
PNPO pyridoxamine 5'-phosphate oxidase
POLG polymerase (DNA directed), gamma
POLG2 polymerase (DNA directed), gamma 2, accessory subunit
PUS1 pseudouridylate synthase 1
RARS2 arginyl-tRNA synthetase 2, mitochondrial
RMND1 required for meiotic nuclear division 1 homolog (S. cerevisiae)
SCO2 SCO2 cytochrome c oxidase assembly protein
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SDHAF1 succinate dehydrogenase complex assembly factor 1
SERAC1 serine active site containing 1
SFXN4 sideroflexin 4
SURF1 surfeit 1
TACO1 translational activator of mitochondrially encoded cytochrome c oxidase I
TARS2 threonyl-tRNA synthetase 2, mitochondrial (putative)
TMEM70 transmembrane protein 70
TRMU tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
TSFM Ts translation elongation factor, mitochondrial
UQCRC2 ubiquinol-cytochrome c reductase core protein II
UQCRQ ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa
YARS2 tyrosyl-tRNA synthetase 2, mitochondrial