lactic acidosis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An acquired metabolic disease that has_material_basis_in low pH in body tissues and blood accompanied by the buildup of lactate especially D-lactate. (Human Disease Ontology, DOID_3650)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003128
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Genes

110 genes associated with the lactic acidosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AARS2 alanyl-tRNA synthetase 2, mitochondrial
ACAD9 acyl-CoA dehydrogenase family, member 9
ADCK3 aarF domain containing kinase 3
AGK acylglycerol kinase
ALDOB aldolase B, fructose-bisphosphate
ATP5E ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit
ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2
BCKDHA branched chain keto acid dehydrogenase E1, alpha polypeptide
BCKDHB branched chain keto acid dehydrogenase E1, beta polypeptide
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BOLA3 bolA family member 3
CA5A carbonic anhydrase VA, mitochondrial
COA5 cytochrome c oxidase assembly factor 5
COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
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
DBT dihydrolipoamide branched chain transacylase E2
DGUOK deoxyguanosine kinase
DLAT dihydrolipoamide S-acetyltransferase
DLD dihydrolipoamide dehydrogenase
DNM1L dynamin 1-like
EARS2 glutamyl-tRNA synthetase 2, mitochondrial
ELAC2 elaC ribonuclease Z 2
ETHE1 ethylmalonic encephalopathy 1
FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial
FASTKD2 FAST kinase domains 2
FBXL4 F-box and leucine-rich repeat protein 4
FH fumarate hydratase
FOXRED1 FAD-dependent oxidoreductase domain containing 1
G6PC glucose-6-phosphatase, catalytic subunit
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
HADHB hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10
IBA57 IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)
ISCU iron-sulfur cluster assembly enzyme
LIAS lipoic acid synthetase
LRPPRC leucine-rich pentatricopeptide repeat containing
LYRM4 LYR motif containing 4
LYRM7 LYR motif containing 7
MLYCD malonyl-CoA decarboxylase
MPC1 mitochondrial pyruvate carrier 1
MPV17 MpV17 mitochondrial inner membrane protein
MRPS16 mitochondrial ribosomal protein S16
MTO1 mitochondrial tRNA translation optimization 1
NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
NDUFA10 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa
NDUFA11 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa
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
NDUFAF1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 1
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
NDUFB3 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa
NDUFB9 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa
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
NFU1 NFU1 iron-sulfur cluster scaffold
NUBPL nucleotide binding protein-like
OGDH oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)
PC pyruvate carboxylase
PCCA propionyl CoA carboxylase, alpha polypeptide
PCCB propionyl CoA carboxylase, beta polypeptide
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
PDHB pyruvate dehydrogenase (lipoamide) beta
PDHX pyruvate dehydrogenase complex, component X
PDP1 pyruvate dehyrogenase phosphatase catalytic subunit 1
PET100 PET100 homolog (S. cerevisiae)
PHKG2 phosphorylase kinase, gamma 2 (testis)
PUS1 pseudouridylate synthase 1
RMND1 required for meiotic nuclear division 1 homolog (S. cerevisiae)
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
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
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
SLC25A3 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4
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
TAZ tafazzin
TK2 thymidine kinase 2, mitochondrial
TMEM70 transmembrane protein 70
TPK1 thiamin pyrophosphokinase 1
TRMU tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
TSFM Ts translation elongation factor, mitochondrial
TUFM Tu translation elongation factor, mitochondrial
TYMP thymidine phosphorylase
VTI1A vesicle transport through interaction with t-SNAREs 1A
YARS2 tyrosyl-tRNA synthetase 2, mitochondrial