abnormality of the mitochondrion Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An anomaly of the mitochondrion, the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The mitochondrion is a self replicating organelle that is the site of tissue respiration. (Human Phenotype Ontology, HP_0012103)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0012103
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Genes

76 genes associated with the abnormality of the mitochondrion phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACAD8 acyl-CoA dehydrogenase family, member 8
ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain
ACADVL acyl-CoA dehydrogenase, very long chain
AGK acylglycerol kinase
AK2 adenylate kinase 2
ATP5E ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit
ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2
BOLA3 bolA family member 3
CAMKMT calmodulin-lysine N-methyltransferase
COX1
COX2
COX3
CPT2 carnitine palmitoyltransferase 2
CTNS cystinosin, lysosomal cystine transporter
CYBA cytochrome b-245, alpha polypeptide
CYBB cytochrome b-245, beta polypeptide
DGUOK deoxyguanosine kinase
DNAJC19 DnaJ (Hsp40) homolog, subfamily C, member 19
EARS2 glutamyl-tRNA synthetase 2, mitochondrial
ETFA electron-transfer-flavoprotein, alpha polypeptide
ETFB electron-transfer-flavoprotein, beta polypeptide
ETFDH electron-transferring-flavoprotein dehydrogenase
FBXL4 F-box and leucine-rich repeat protein 4
FOXRED1 FAD-dependent oxidoreductase domain containing 1
FXN frataxin
GFER growth factor, augmenter of liver regeneration
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
HMGCL 3-hydroxymethyl-3-methylglutaryl-CoA lyase
ISCU iron-sulfur cluster assembly enzyme
MT-ND4 NADH dehydrogenase, subunit 4 (complex I)
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MT-TF tRNA
MT-TH tRNA
MT-TL1 tRNA
MT-TQ tRNA
MT-TS1 tRNA
MT-TS2 tRNA
MT-TW tRNA
ND1
NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
NDUFA11 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa
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
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)
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
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
PDHX pyruvate dehydrogenase complex, component X
PDP1 pyruvate dehyrogenase phosphatase catalytic subunit 1
PEX5 peroxisomal biogenesis factor 5
POLG polymerase (DNA directed), gamma
PPM1B protein phosphatase, Mg2+/Mn2+ dependent, 1B
PREPL prolyl endopeptidase-like
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SDHAF1 succinate dehydrogenase complex assembly factor 1
SERAC1 serine active site containing 1
SLC25A3 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3
SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member 1
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit
TAZ tafazzin
TK2 thymidine kinase 2, mitochondrial
TMEM70 transmembrane protein 70
TRMU tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
TSFM Ts translation elongation factor, mitochondrial