Požymis
Higher than normal levels of lactate in blood
Klinikinis pavadinimas: Increased circulating lactate concentration
Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).
Santrauka
- Taip pat vadinama
- Increased blood lactate, Increased serum lactate
- Kūno sistema
- Laboratory abnormality
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to Higher than normal levels of lactate in blood, and the rest of your genome, with one test.
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Įsigyti savo Genome Test234 genų susiję su Higher than normal levels of lactate in blood
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Higher than normal levels of lactate in blood. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ACACAacetyl-CoA carboxylase alpha | Visada | 1 ligoje |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Visada | 2 ligose |
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Visada | 1 ligoje |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Visada | 1 ligoje |
| CA5Acarbonic anhydrase 5A | Visada | 1 ligoje |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Visada | 2 ligose |
| COX11cytochrome c oxidase copper chaperone COX11 | Visada | 1 ligoje |
| COX14cytochrome c oxidase assembly factor COX14 | Visada | 1 ligoje |
| COX18cytochrome c oxidase assembly factor COX18 | Visada | 1 ligoje |
| COX20cytochrome c oxidase assembly factor COX20 | Visada | 1 ligoje |
| COX5Acytochrome c oxidase subunit 5A | Visada | 1 ligoje |
| COX6A2cytochrome c oxidase subunit 6A2 | Visada | 1 ligoje |
| COX6B1cytochrome c oxidase subunit 6B1 | Visada | 2 ligose |
| COX8Acytochrome c oxidase subunit 8A | Visada | 1 ligoje |
| CYC1cytochrome c1 | Visada | 1 ligoje |
| DTYMKdeoxythymidylate kinase | Visada | 1 ligoje |
| ECHS1enoyl-CoA hydratase, short chain 1 | Visada | 1 ligoje |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Visada | 1 ligoje |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Visada | 1 ligoje |
| FBXL4F-box and leucine rich repeat protein 4 | Visada | 1 ligoje |
| FDX2ferredoxin 2 | Visada | 1 ligoje |
| GKglycerol kinase | Visada | 1 ligoje |
| GOT2glutamic-oxaloacetic transaminase 2 | Visada | 1 ligoje |
| GTPBP3GTP binding protein 3, mitochondrial | Visada | 1 ligoje |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Visada | 1 ligoje |
| HS6ST2heparan sulfate 6-O-sulfotransferase 2 | Visada | 1 ligoje |
| KARS1lysyl-tRNA synthetase 1 | Visada | 2 ligose |
| LARS2leucyl-tRNA synthetase 2, mitochondrial | Visada | 1 ligoje |
| LIASlipoic acid synthetase | Visada | 1 ligoje |
| LIPT1lipoyltransferase 1 | Visada | 1 ligoje |
| LIPT2lipoyl(octanoyl) transferase 2 | Visada | 1 ligoje |
| LRPPRCleucine rich pentatricopeptide repeat containing | Visada | 2 ligose |
| LYRM7LYR motif containing 7 | Visada | 1 ligoje |
| MDH2malate dehydrogenase 2 | Visada | 1 ligoje |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Visada | 1 ligoje |
| MIPEPmitochondrial intermediate peptidase | Visada | 1 ligoje |
| MRPL12mitochondrial ribosomal protein L12 | Visada | 1 ligoje |
| MRPL3mitochondrial ribosomal protein L3 | Visada | 1 ligoje |
| MRPS14mitochondrial ribosomal protein S14 | Visada | 1 ligoje |
| MRPS16mitochondrial ribosomal protein S16 | Visada | 1 ligoje |
Rodyti dar 194 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| MRPS2mitochondrial ribosomal protein S2 | Visada | 1 ligoje |
| MRPS28mitochondrial ribosomal protein S28 | Visada | 1 ligoje |
| MRPS34mitochondrial ribosomal protein S34 | Visada | 1 ligoje |
| MRPS7mitochondrial ribosomal protein S7 | Visada | 1 ligoje |
| MTO1mitochondrial tRNA translation optimization 1 | Visada | 1 ligoje |
| MTRFRmitochondrial translation release factor in rescue | Visada | 1 ligoje |
| NADK2NAD kinase 2, mitochondrial | Visada | 1 ligoje |
| NAXENAD(P)HX epimerase | Visada | 1 ligoje |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Visada | 1 ligoje |
| NDUFA12NADH:ubiquinone oxidoreductase subunit A12 | Visada | 1 ligoje |
| NDUFA13NADH:ubiquinone oxidoreductase subunit A13 | Visada | 1 ligoje |
| NDUFA8NADH:ubiquinone oxidoreductase subunit A8 | Visada | 1 ligoje |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Visada | 1 ligoje |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Visada | 1 ligoje |
| NDUFAF6NADH:ubiquinone oxidoreductase complex assembly factor 6 | Visada | 1 ligoje |
| NDUFB8NADH:ubiquinone oxidoreductase subunit B8 | Visada | 1 ligoje |
| NDUFB9NADH:ubiquinone oxidoreductase subunit B9 | Visada | 1 ligoje |
| NDUFC2NADH:ubiquinone oxidoreductase subunit C2 | Visada | 1 ligoje |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Visada | 1 ligoje |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Visada | 1 ligoje |
| NFS1NFS1 cysteine desulfurase | Visada | 1 ligoje |
| NFU1NFU1 iron-sulfur cluster scaffold | Visada | 2 ligose |
| NSUN3NOP2/Sun RNA methyltransferase 3 | Visada | 1 ligoje |
| OGDHoxoglutarate dehydrogenase | Visada | 1 ligoje |
| OPA1OPA1 mitochondrial dynamin like GTPase | Visada | 2 ligose |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Visada | 2 ligose |
| PDSS1decaprenyl diphosphate synthase subunit 1 | Visada | 1 ligoje |
| PDSS2decaprenyl diphosphate synthase subunit 2 | Visada | 1 ligoje |
| PET100PET100 cytochrome c oxidase chaperone | Visada | 1 ligoje |
| PET117PET117 cytochrome c oxidase chaperone | Visada | 1 ligoje |
| PNPLA8patatin like domain 8, phospholipase A2 | Visada | 1 ligoje |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Visada | 2 ligose |
| POLG2DNA polymerase gamma 2, accessory subunit | Visada | 3 ligose |
| RMND1required for meiotic nuclear division 1 homolog | Visada | 1 ligoje |
| RRAGCRas related GTP binding C | Visada | 1 ligoje |
| SARS2seryl-tRNA synthetase 2, mitochondrial | Visada | 1 ligoje |
| SCO1synthesis of cytochrome C oxidase 1 | Visada | 2 ligose |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Visada | 1 ligoje |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Visada | 1 ligoje |
| SFXN4sideroflexin 4 | Visada | 1 ligoje |
| SLC25A10solute carrier family 25 member 10 | Visada | 1 ligoje |
| SLC25A12solute carrier family 25 member 12 | Visada | 1 ligoje |
| SLC25A4solute carrier family 25 member 4 | Visada | 2 ligose |
| SLC25A42solute carrier family 25 member 42 | Visada | 1 ligoje |
| SLC31A1solute carrier family 31 member 1 | Visada | 1 ligoje |
| SOD1superoxide dismutase 1 | Visada | 1 ligoje |
| TARS2threonyl-tRNA synthetase 2, mitochondrial | Visada | 1 ligoje |
| TEFMtranscription elongation factor, mitochondrial | Visada | 1 ligoje |
| TIMM22translocase of inner mitochondrial membrane 22 | Visada | 1 ligoje |
| TMEM126Btransmembrane protein 126B | Visada | 1 ligoje |
| TRMT10CtRNA methyltransferase 10C, mitochondrial RNase P subunit | Visada | 1 ligoje |
| TRMT5tRNA methyltransferase 5 | Visada | 1 ligoje |
| TRMUtRNA mitochondrial 2-thiouridylase | Visada | 1 ligoje |
| TSFMTs translation elongation factor, mitochondrial | Visada | 1 ligoje |
| UQCC2ubiquinol-cytochrome c reductase complex assembly factor 2 | Visada | 1 ligoje |
| UQCC3ubiquinol-cytochrome c reductase complex assembly factor 3 | Visada | 1 ligoje |
| UQCRBubiquinol-cytochrome c reductase binding protein | Visada | 1 ligoje |
| UQCRC2ubiquinol-cytochrome c reductase core protein 2 | Visada | 1 ligoje |
| UQCRHubiquinol-cytochrome c reductase hinge protein | Visada | 1 ligoje |
| UQCRQubiquinol-cytochrome c reductase complex III subunit VII | Visada | 1 ligoje |
| YARS1tyrosyl-tRNA synthetase 1 | Visada | 1 ligoje |
| YARS2tyrosyl-tRNA synthetase 2 | Visada | 1 ligoje |
| ATAD3AATPase family AAA domain containing 3A | Labai dažnai (80–99%) | 3 ligose |
| COQ4coenzyme Q4 | Labai dažnai (80–99%) | 1 ligoje |
| DLDdihydrolipoamide dehydrogenase | Labai dažnai (80–99%) | 1 ligoje |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Labai dažnai (80–99%) | 1 ligoje |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Labai dažnai (80–99%) | 1 ligoje |
| LONP1lon peptidase 1, mitochondrial | Labai dažnai (80–99%) | 1 ligoje |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Labai dažnai (80–99%) | 1 ligoje |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Labai dažnai (80–99%) | 1 ligoje |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Labai dažnai (80–99%) | 1 ligoje |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Labai dažnai (80–99%) | 2 ligose |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Labai dažnai (80–99%) | 2 ligose |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Labai dažnai (80–99%) | 2 ligose |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Labai dažnai (80–99%) | 2 ligose |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Labai dažnai (80–99%) | 2 ligose |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Labai dažnai (80–99%) | 2 ligose |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Labai dažnai (80–99%) | 5 ligose |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Labai dažnai (80–99%) | 1 ligoje |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Labai dažnai (80–99%) | 4 ligose |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Labai dažnai (80–99%) | 2 ligose |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Labai dažnai (80–99%) | 2 ligose |
| PDHXpyruvate dehydrogenase complex component X | Labai dažnai (80–99%) | 1 ligoje |
| SCO2synthesis of cytochrome C oxidase 2 | Labai dažnai (80–99%) | 3 ligose |
| SERAC1serine active site containing 1 | Labai dažnai (80–99%) | 1 ligoje |
| SLC25A3solute carrier family 25 member 3 | Labai dažnai (80–99%) | 1 ligoje |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Labai dažnai (80–99%) | 1 ligoje |
| TANGO2transport and golgi organization 2 homolog | Labai dažnai (80–99%) | 2 ligose |
| TIMM50translocase of inner mitochondrial membrane 50 | Labai dažnai (80–99%) | 2 ligose |
| TXN2thioredoxin 2 | Labai dažnai (80–99%) | 2 ligose |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Dažnai (30–79%) | 1 ligoje |
| ACAD9acyl-CoA dehydrogenase family member 9 | Dažnai (30–79%) | 1 ligoje |
| ATP5F1AATP synthase F1 subunit alpha | Dažnai (30–79%) | 1 ligoje |
| BOLA3bolA family member 3 | Dažnai (30–79%) | 1 ligoje |
| C1QBPcomplement C1q binding protein | Dažnai (30–79%) | 1 ligoje |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Dažnai (30–79%) | 2 ligose |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Dažnai (30–79%) | 2 ligose |
| CLPBClpB family mitochondrial disaggregase | Dažnai (30–79%) | 2 ligose |
| COQ8Acoenzyme Q8A | Dažnai (30–79%) | 2 ligose |
| COX4I1cytochrome c oxidase subunit 4I1 | Dažnai (30–79%) | 1 ligoje |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Dažnai (30–79%) | 1 ligoje |
| DNM1Ldynamin 1L | Dažnai (30–79%) | 2 ligose |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Dažnai (30–79%) | 2 ligose |
| GLRX5glutaredoxin 5 | Dažnai (30–79%) | 2 ligose |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Dažnai (30–79%) | 1 ligoje |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Dažnai (30–79%) | 2 ligose |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Dažnai (30–79%) | 1 ligoje |
| HSPD1heat shock protein family D (Hsp60) member 1 | Dažnai (30–79%) | 1 ligoje |
| IBA57iron-sulfur cluster assembly factor IBA57 | Dažnai (30–79%) | 1 ligoje |
| ISCA1iron-sulfur cluster assembly 1 | Dažnai (30–79%) | 2 ligose |
| KLC4kinesin light chain 4 | Dažnai (30–79%) | 1 ligoje |
| LDB3LIM domain binding 3 | Dažnai (30–79%) | 1 ligoje |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Dažnai (30–79%) | 1 ligoje |
| MPV17mitochondrial inner membrane protein MPV17 | Dažnai (30–79%) | 1 ligoje |
| MRPL39mitochondrial ribosomal protein L39 | Dažnai (30–79%) | 1 ligoje |
| MRPL44mitochondrial ribosomal protein L44 | Dažnai (30–79%) | 1 ligoje |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Dažnai (30–79%) | 2 ligose |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Dažnai (30–79%) | 1 ligoje |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Dažnai (30–79%) | 1 ligoje |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Dažnai (30–79%) | 3 ligose |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Dažnai (30–79%) | 1 ligoje |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Dažnai (30–79%) | 2 ligose |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Dažnai (30–79%) | 1 ligoje |
| MTFMTmitochondrial methionyl-tRNA formyltransferase | Dažnai (30–79%) | 1 ligoje |
| NAXDNAD(P)HX dehydratase | Dažnai (30–79%) | 2 ligose |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Dažnai (30–79%) | 1 ligoje |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Dažnai (30–79%) | 1 ligoje |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Dažnai (30–79%) | 1 ligoje |
| NGLY1N-glycanase 1 | Dažnai (30–79%) | 1 ligoje |
| PCK1phosphoenolpyruvate carboxykinase 1 | Dažnai (30–79%) | 1 ligoje |
| PCK2phosphoenolpyruvate carboxykinase 2, mitochondrial | Dažnai (30–79%) | 1 ligoje |
| PDP1pyruvate dehydrogenase phosphatase catalytic subunit 1 | Dažnai (30–79%) | 1 ligoje |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Dažnai (30–79%) | 1 ligoje |
| PLPBPpyridoxal phosphate binding protein | Dažnai (30–79%) | 1 ligoje |
| PMPCBpeptidase, mitochondrial processing subunit beta | Dažnai (30–79%) | 1 ligoje |
| PNPOpyridoxamine 5'-phosphate oxidase | Dažnai (30–79%) | 2 ligose |
| POLGDNA polymerase gamma, catalytic subunit | Dažnai (30–79%) | 6 ligose |
| PPCSphosphopantothenoylcysteine synthetase | Dažnai (30–79%) | 1 ligoje |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Dažnai (30–79%) | 1 ligoje |
| PUS1pseudouridine synthase 1 | Dažnai (30–79%) | 1 ligoje |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Dažnai (30–79%) | 1 ligoje |
| RNASEH1ribonuclease H1 | Dažnai (30–79%) | 1 ligoje |
| STAT2signal transducer and activator of transcription 2 | Dažnai (30–79%) | 1 ligoje |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Dažnai (30–79%) | 1 ligoje |
| TK2thymidine kinase 2 | Dažnai (30–79%) | 1 ligoje |
| TPK1thiamin pyrophosphokinase 1 | Dažnai (30–79%) | 1 ligoje |
| TWNKtwinkle mtDNA helicase | Dažnai (30–79%) | 5 ligose |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Dažnai (30–79%) | 2 ligose |
| YME1L1YME1 like 1 ATPase | Dažnai (30–79%) | 1 ligoje |
| ACAT1acetyl-CoA acetyltransferase 1 | Kartais (5–29%) | 1 ligoje |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Kartais (5–29%) | 1 ligoje |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Kartais (5–29%) | 1 ligoje |
| DGUOKdeoxyguanosine kinase | Kartais (5–29%) | 1 ligoje |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Kartais (5–29%) | 2 ligose |
| IFT56intraflagellar transport 56 | Kartais (5–29%) | 1 ligoje |
| ISCA2iron-sulfur cluster assembly 2 | Kartais (5–29%) | 1 ligoje |
| MECP2methyl-CpG binding protein 2 | Kartais (5–29%) | 1 ligoje |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Kartais (5–29%) | 1 ligoje |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Kartais (5–29%) | 1 ligoje |
| PITRM1pitrilysin metallopeptidase 1 | Kartais (5–29%) | 1 ligoje |
| POLRMTRNA polymerase mitochondrial | Kartais (5–29%) | 1 ligoje |
| PRORPprotein only RNase P catalytic subunit | Kartais (5–29%) | 1 ligoje |
| RARS1arginyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Kartais (5–29%) | 1 ligoje |
| UPB1beta-ureidopropionase 1 | Kartais (5–29%) | 1 ligoje |
| ACAT2acetyl-CoA acetyltransferase 2 | Neužfiksuota | 1 ligoje |
| ADAMTS13ADAM metallopeptidase with thrombospondin type 1 motif 13 | Neužfiksuota | 1 ligoje |
| AGKacylglycerol kinase | Neužfiksuota | 1 ligoje |
| AMPD1adenosine monophosphate deaminase 1 | Neužfiksuota | 1 ligoje |
| AMPD3adenosine monophosphate deaminase 3 | Neužfiksuota | 1 ligoje |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Neužfiksuota | 1 ligoje |
| COQ9coenzyme Q9 | Neužfiksuota | 1 ligoje |
| COX15cytochrome c oxidase assembly factor COX15 | Neužfiksuota | 1 ligoje |
| EARS2glutamyl-tRNA synthetase 2, mitochondrial | Neužfiksuota | 1 ligoje |
| GFM1G elongation factor mitochondrial 1 | Neužfiksuota | 1 ligoje |
| GYS2glycogen synthase 2 | Neužfiksuota | 1 ligoje |
| HTRA2HtrA serine peptidase 2 | Neužfiksuota | 1 ligoje |
| ISCUiron-sulfur cluster assembly enzyme | Neužfiksuota | 1 ligoje |
| LDHAlactate dehydrogenase A | Neužfiksuota | 1 ligoje |
| MPC1mitochondrial pyruvate carrier 1 | Neužfiksuota | 1 ligoje |
| MRPS22mitochondrial ribosomal protein S22 | Neužfiksuota | 1 ligoje |
| MT-TImitochondrially encoded tRNA-Ile (AUU/C) | Neužfiksuota | 1 ligoje |
| MT-TPmitochondrially encoded tRNA-Pro (CCN) | Neužfiksuota | 1 ligoje |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Neužfiksuota | 1 ligoje |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Neužfiksuota | 1 ligoje |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Neužfiksuota | 1 ligoje |
| PCpyruvate carboxylase | Neužfiksuota | 1 ligoje |
| SLC25A26solute carrier family 25 member 26 | Neužfiksuota | 1 ligoje |
| SLC7A7solute carrier family 7 member 7 | Neužfiksuota | 1 ligoje |
| SURF1SURF1 cytochrome c oxidase assembly factor | Neužfiksuota | 2 ligose |
| SYNJ1synaptojanin 1 | Neužfiksuota | 1 ligoje |
| TACO1translational activator of cytochrome c oxidase I | Neužfiksuota | 1 ligoje |
| TMEM70transmembrane protein 70 | Neužfiksuota | 1 ligoje |
| TUFMTu translation elongation factor, mitochondrial | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
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- Duomenų leidimas 2026.10.16-c6eea6bf.
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