Požymis
Lethargy
A state of fatigue, either physical or mental slowness and sluggishness, with difficulties in initiating or performing simple tasks. Distinguished from apathy which implies indifference and a lack of desire or interest in the task. A person with lethargy may have the desire, but not the energy to engage in personal or socially relevant tasks.
Santrauka
- Taip pat vadinama
- Dullness, Inaction, Inactivity, Languor, Slowness, Torpor
- Kūno sistema
- Abnormality of the nervous system
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Lethargy. 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 |
|---|---|---|
| ABAT4-aminobutyrate aminotransferase | Visada | 2 ligose |
| ACADVLacyl-CoA dehydrogenase very long chain | Visada | 2 ligose |
| AK2adenylate kinase 2 | Visada | 1 ligoje |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Visada | 1 ligoje |
| ATP5F1DATP synthase F1 subunit delta | Visada | 2 ligose |
| BCKDHBbranched chain keto acid dehydrogenase E1 subunit beta | Visada | 1 ligoje |
| BOLA3bolA family member 3 | Visada | 2 ligose |
| COG8component of oligomeric golgi complex 8 | Visada | 1 ligoje |
| CPS1carbamoyl-phosphate synthase 1 | Visada | 1 ligoje |
| CPT1Acarnitine palmitoyltransferase 1A | Visada | 2 ligose |
| DBTdihydrolipoamide branched chain transacylase E2 | Visada | 1 ligoje |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Visada | 1 ligoje |
| FDXRferredoxin reductase | Visada | 1 ligoje |
| GCSHglycine cleavage system protein H | Visada | 1 ligoje |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Visada | 1 ligoje |
| LDB3LIM domain binding 3 | Visada | 1 ligoje |
| MRPS16mitochondrial ribosomal protein S16 | Visada | 1 ligoje |
| MTR5-methyltetrahydrofolate-homocysteine methyltransferase | Visada | 1 ligoje |
| NAGSN-acetylglutamate synthase | Visada | 2 ligose |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Visada | 2 ligose |
| NFS1NFS1 cysteine desulfurase | Visada | 1 ligoje |
| NFU1NFU1 iron-sulfur cluster scaffold | Visada | 1 ligoje |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Visada | 1 ligoje |
| RAB32RAB32, member RAS oncogene family | Visada | 1 ligoje |
| SLC25A20solute carrier family 25 member 20 | Visada | 2 ligose |
| SLC31A1solute carrier family 31 member 1 | Visada | 1 ligoje |
| SLC52A1solute carrier family 52 member 1 | Visada | 1 ligoje |
| TAMM41TAM41 mitochondrial translocator assembly and maintenance homolog | Visada | 1 ligoje |
| WSB2WD repeat and SOCS box containing 2 | Visada | 1 ligoje |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Labai dažnai (80–99%) | 1 ligoje |
| HADHhydroxyacyl-CoA dehydrogenase | Labai dažnai (80–99%) | 1 ligoje |
| HNF4Ahepatocyte nuclear factor 4 alpha | Labai dažnai (80–99%) | 1 ligoje |
| MMADHCmetabolism of cobalamin associated D | Labai dažnai (80–99%) | 2 ligose |
| MMUTmethylmalonyl-CoA mutase | Labai dažnai (80–99%) | 3 ligose |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Labai dažnai (80–99%) | 1 ligoje |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Labai dažnai (80–99%) | 1 ligoje |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Labai dažnai (80–99%) | 1 ligoje |
Rodyti dar 222 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFB3NADH:ubiquinone oxidoreductase subunit B3 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFB9NADH:ubiquinone oxidoreductase subunit B9 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Labai dažnai (80–99%) | 2 ligose |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Labai dažnai (80–99%) | 2 ligose |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFS6NADH:ubiquinone oxidoreductase subunit S6 | Labai dažnai (80–99%) | 2 ligose |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Labai dažnai (80–99%) | 2 ligose |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Labai dažnai (80–99%) | 1 ligoje |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Labai dažnai (80–99%) | 2 ligose |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Labai dažnai (80–99%) | 1 ligoje |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Labai dažnai (80–99%) | 1 ligoje |
| SLC19A2solute carrier family 19 member 2 | Labai dažnai (80–99%) | 1 ligoje |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Labai dažnai (80–99%) | 1 ligoje |
| TMEM126Btransmembrane protein 126B | Labai dažnai (80–99%) | 1 ligoje |
| ABCD4ATP binding cassette subfamily D member 4 | Dažnai (30–79%) | 1 ligoje |
| ACADSacyl-CoA dehydrogenase short chain | Dažnai (30–79%) | 2 ligose |
| ADA2adenosine deaminase 2 | Dažnai (30–79%) | 1 ligoje |
| ARXaristaless related homeobox | Dažnai (30–79%) | 1 ligoje |
| ASLargininosuccinate lyase | Dažnai (30–79%) | 2 ligose |
| ASPAaspartoacylase | Dažnai (30–79%) | 1 ligoje |
| ATP13A2ATPase cation transporting 13A2 | Dažnai (30–79%) | 1 ligoje |
| ATP5MKATP synthase membrane subunit k | Dažnai (30–79%) | 2 ligose |
| AVParginine vasopressin | Dažnai (30–79%) | 1 ligoje |
| CA5Acarbonic anhydrase 5A | Dažnai (30–79%) | 1 ligoje |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Dažnai (30–79%) | 1 ligoje |
| CASKcalcium/calmodulin dependent serine protein kinase | Dažnai (30–79%) | 1 ligoje |
| CDKL5cyclin dependent kinase like 5 | Dažnai (30–79%) | 1 ligoje |
| CDONcell adhesion associated, oncogene regulated | Dažnai (30–79%) | 4 ligose |
| COX5Acytochrome c oxidase subunit 5A | Dažnai (30–79%) | 1 ligoje |
| CPT2carnitine palmitoyltransferase 2 | Dažnai (30–79%) | 2 ligose |
| CRIPTOcripto, EGF-CFC family member | Dažnai (30–79%) | 4 ligose |
| DDCdopa decarboxylase | Dažnai (30–79%) | 1 ligoje |
| DISP1dispatched RND transporter family member 1 | Dažnai (30–79%) | 4 ligose |
| DLDdihydrolipoamide dehydrogenase | Dažnai (30–79%) | 2 ligose |
| DLL1delta like canonical Notch ligand 1 | Dažnai (30–79%) | 4 ligose |
| DMXL2Dmx like 2 | Dažnai (30–79%) | 1 ligoje |
| FGF8fibroblast growth factor 8 | Dažnai (30–79%) | 4 ligose |
| FGFR1fibroblast growth factor receptor 1 | Dažnai (30–79%) | 2 ligose |
| FHfumarate hydratase | Dažnai (30–79%) | 1 ligoje |
| FOXE1forkhead box E1 | Dažnai (30–79%) | 1 ligoje |
| FOXH1forkhead box H1 | Dažnai (30–79%) | 4 ligose |
| GAS1growth arrest specific 1 | Dažnai (30–79%) | 4 ligose |
| GATA1GATA binding protein 1 | Dažnai (30–79%) | 1 ligoje |
| GLI2GLI family zinc finger 2 | Dažnai (30–79%) | 4 ligose |
| GNAO1G protein subunit alpha o1 | Dažnai (30–79%) | 1 ligoje |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Dažnai (30–79%) | 1 ligoje |
| GRM7glutamate metabotropic receptor 7 | Dažnai (30–79%) | 1 ligoje |
| GUF1GTP binding elongation factor GUF1 | Dažnai (30–79%) | 1 ligoje |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Dažnai (30–79%) | 2 ligose |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Dažnai (30–79%) | 1 ligoje |
| HAMPhepcidin antimicrobial peptide | Dažnai (30–79%) | 1 ligoje |
| HEATR3HEAT repeat containing 3 | Dažnai (30–79%) | 1 ligoje |
| HESX1HESX homeobox 1 | Dažnai (30–79%) | 1 ligoje |
| HJVhemojuvelin BMP co-receptor | Dažnai (30–79%) | 2 ligose |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Dažnai (30–79%) | 1 ligoje |
| IVDisovaleryl-CoA dehydrogenase | Dažnai (30–79%) | 2 ligose |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Dažnai (30–79%) | 1 ligoje |
| LGI1leucine rich glioma inactivated 1 | Dažnai (30–79%) | 1 ligoje |
| LHX3LIM homeobox 3 | Dažnai (30–79%) | 1 ligoje |
| LHX4LIM homeobox 4 | Dažnai (30–79%) | 1 ligoje |
| LMBRD1LMBR1 domain containing 1 | Dažnai (30–79%) | 2 ligose |
| NAXDNAD(P)HX dehydratase | Dažnai (30–79%) | 2 ligose |
| NDE1nudE neurodevelopment protein 1 | Dažnai (30–79%) | 1 ligoje |
| NEUROD2neuronal differentiation 2 | Dažnai (30–79%) | 1 ligoje |
| NKX2-1NK2 homeobox 1 | Dažnai (30–79%) | 1 ligoje |
| NKX2-5NK2 homeobox 5 | Dažnai (30–79%) | 1 ligoje |
| NODALnodal growth differentiation factor | Dažnai (30–79%) | 4 ligose |
| OTCornithine transcarbamylase | Dažnai (30–79%) | 2 ligose |
| PAX8paired box 8 | Dažnai (30–79%) | 2 ligose |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Dažnai (30–79%) | 1 ligoje |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Dažnai (30–79%) | 1 ligoje |
| PLCH1phospholipase C eta 1 | Dažnai (30–79%) | 1 ligoje |
| PNKPpolynucleotide kinase 3'-phosphatase | Dažnai (30–79%) | 1 ligoje |
| POU1F1POU class 1 homeobox 1 | Dažnai (30–79%) | 1 ligoje |
| PROP1PROP paired-like homeobox 1 | Dažnai (30–79%) | 1 ligoje |
| PTCH1patched 1 | Dažnai (30–79%) | 4 ligose |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Dažnai (30–79%) | 1 ligoje |
| RHOBTB2Rho related BTB domain containing 2 | Dažnai (30–79%) | 1 ligoje |
| RMND1required for meiotic nuclear division 1 homolog | Dažnai (30–79%) | 1 ligoje |
| RPL11ribosomal protein L11 | Dažnai (30–79%) | 1 ligoje |
| RPL15ribosomal protein L15 | Dažnai (30–79%) | 1 ligoje |
| RPL18ribosomal protein L18 | Dažnai (30–79%) | 1 ligoje |
| RPL26ribosomal protein L26 | Dažnai (30–79%) | 1 ligoje |
| RPL27ribosomal protein L27 | Dažnai (30–79%) | 1 ligoje |
| RPL31ribosomal protein L31 | Dažnai (30–79%) | 1 ligoje |
| RPL35ribosomal protein L35 | Dažnai (30–79%) | 1 ligoje |
| RPL35Aribosomal protein L35a | Dažnai (30–79%) | 1 ligoje |
| RPL5ribosomal protein L5 | Dažnai (30–79%) | 1 ligoje |
| RPL8ribosomal protein L8 | Dažnai (30–79%) | 1 ligoje |
| RPL9ribosomal protein L9 | Dažnai (30–79%) | 1 ligoje |
| RPS10ribosomal protein S10 | Dažnai (30–79%) | 1 ligoje |
| RPS15Aribosomal protein S15a | Dažnai (30–79%) | 1 ligoje |
| RPS17ribosomal protein S17 | Dažnai (30–79%) | 1 ligoje |
| RPS19ribosomal protein S19 | Dažnai (30–79%) | 1 ligoje |
| RPS20ribosomal protein S20 | Dažnai (30–79%) | 1 ligoje |
| RPS24ribosomal protein S24 | Dažnai (30–79%) | 1 ligoje |
| RPS26ribosomal protein S26 | Dažnai (30–79%) | 1 ligoje |
| RPS27ribosomal protein S27 | Dažnai (30–79%) | 1 ligoje |
| RPS28ribosomal protein S28 | Dažnai (30–79%) | 1 ligoje |
| RPS29ribosomal protein S29 | Dažnai (30–79%) | 1 ligoje |
| RPS7ribosomal protein S7 | Dažnai (30–79%) | 1 ligoje |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Dažnai (30–79%) | 1 ligoje |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Dažnai (30–79%) | 1 ligoje |
| SCO2synthesis of cytochrome C oxidase 2 | Dažnai (30–79%) | 1 ligoje |
| SHHsonic hedgehog signaling molecule | Dažnai (30–79%) | 4 ligose |
| SIK1salt inducible kinase 1 | Dažnai (30–79%) | 1 ligoje |
| SIX3SIX homeobox 3 | Dažnai (30–79%) | 4 ligose |
| SLC19A3solute carrier family 19 member 3 | Dažnai (30–79%) | 1 ligoje |
| SLC25A13solute carrier family 25 member 13 | Dažnai (30–79%) | 1 ligoje |
| SLC25A15solute carrier family 25 member 15 | Dažnai (30–79%) | 2 ligose |
| SLC25A22solute carrier family 25 member 22 | Dažnai (30–79%) | 1 ligoje |
| SLC26A4solute carrier family 26 member 4 | Dažnai (30–79%) | 1 ligoje |
| SLC2A1solute carrier family 2 member 1 | Dažnai (30–79%) | 2 ligose |
| SLC32A1solute carrier family 32 member 1 | Dažnai (30–79%) | 1 ligoje |
| SMC1Astructural maintenance of chromosomes 1A | Dažnai (30–79%) | 1 ligoje |
| STAG2STAG2 cohesin complex component | Dažnai (30–79%) | 2 ligose |
| STILSTIL centriolar assembly protein | Dažnai (30–79%) | 4 ligose |
| TFAMtranscription factor A, mitochondrial | Dažnai (30–79%) | 1 ligoje |
| TGIF1TGFB induced factor homeobox 1 | Dažnai (30–79%) | 4 ligose |
| THtyrosine hydroxylase | Dažnai (30–79%) | 1 ligoje |
| TRHRthyrotropin releasing hormone receptor | Dažnai (30–79%) | 2 ligose |
| TRIM8tripartite motif containing 8 | Dažnai (30–79%) | 1 ligoje |
| TSHRthyroid stimulating hormone receptor | Dažnai (30–79%) | 2 ligose |
| TSPOAP1TSPO associated protein 1 | Dažnai (30–79%) | 1 ligoje |
| TSR2TSR2 ribosome maturation factor | Dažnai (30–79%) | 1 ligoje |
| YARS2tyrosyl-tRNA synthetase 2 | Dažnai (30–79%) | 1 ligoje |
| ZIC2Zic family zinc finger 2 | Dažnai (30–79%) | 4 ligose |
| ABCC8ATP binding cassette subfamily C member 8 | Kartais (5–29%) | 1 ligoje |
| ACADMacyl-CoA dehydrogenase medium chain | Kartais (5–29%) | 2 ligose |
| AGR2anterior gradient 2, protein disulphide isomerase family member | Kartais (5–29%) | 1 ligoje |
| ATP5F1AATP synthase F1 subunit alpha | Kartais (5–29%) | 1 ligoje |
| ATP5F1EATP synthase F1 subunit epsilon | Kartais (5–29%) | 1 ligoje |
| ATP5POATP synthase peripheral stalk subunit OSCP | Kartais (5–29%) | 1 ligoje |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Kartais (5–29%) | 1 ligoje |
| BMP6bone morphogenetic protein 6 | Kartais (5–29%) | 1 ligoje |
| BTDbiotinidase | Kartais (5–29%) | 2 ligose |
| CDKN1Bcyclin dependent kinase inhibitor 1B | Kartais (5–29%) | 1 ligoje |
| CDKN2Bcyclin dependent kinase inhibitor 2B | Kartais (5–29%) | 1 ligoje |
| DUOX2dual oxidase 2 | Kartais (5–29%) | 2 ligose |
| DUOXA2dual oxidase maturation factor 2 | Kartais (5–29%) | 1 ligoje |
| GALTgalactose-1-phosphate uridylyltransferase | Kartais (5–29%) | 1 ligoje |
| GYS2glycogen synthase 2 | Kartais (5–29%) | 1 ligoje |
| HFEhomeostatic iron regulator | Kartais (5–29%) | 1 ligoje |
| HLCSholocarboxylase synthetase | Kartais (5–29%) | 2 ligose |
| HNF1AHNF1 homeobox A | Kartais (5–29%) | 1 ligoje |
| IYDiodotyrosine deiodinase | Kartais (5–29%) | 1 ligoje |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Kartais (5–29%) | 1 ligoje |
| MAGEL2MAGE family member L2 | Kartais (5–29%) | 1 ligoje |
| MEN1menin 1 | Kartais (5–29%) | 2 ligose |
| MLYCDmalonyl-CoA decarboxylase | Kartais (5–29%) | 1 ligoje |
| MMACHCmetabolism of cobalamin associated C | Kartais (5–29%) | 2 ligose |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Kartais (5–29%) | 1 ligoje |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Kartais (5–29%) | 1 ligoje |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Kartais (5–29%) | 1 ligoje |
| MTHFRmethylenetetrahydrofolate reductase | Kartais (5–29%) | 1 ligoje |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Kartais (5–29%) | 2 ligose |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Kartais (5–29%) | 1 ligoje |
| OXCT13-oxoacid CoA-transferase 1 | Kartais (5–29%) | 1 ligoje |
| PAX2paired box 2 | Kartais (5–29%) | 1 ligoje |
| PBX1PBX homeobox 1 | Kartais (5–29%) | 1 ligoje |
| PCK1phosphoenolpyruvate carboxykinase 1 | Kartais (5–29%) | 1 ligoje |
| PCK2phosphoenolpyruvate carboxykinase 2, mitochondrial | Kartais (5–29%) | 1 ligoje |
| PEX2peroxisomal biogenesis factor 2 | Kartais (5–29%) | 1 ligoje |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Kartais (5–29%) | 1 ligoje |
| POLGDNA polymerase gamma, catalytic subunit | Kartais (5–29%) | 1 ligoje |
| POLG2DNA polymerase gamma 2, accessory subunit | Kartais (5–29%) | 1 ligoje |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Kartais (5–29%) | 1 ligoje |
| RYR1ryanodine receptor 1 | Kartais (5–29%) | 2 ligose |
| SIM1SIM bHLH transcription factor 1 | Kartais (5–29%) | 1 ligoje |
| SLC25A4solute carrier family 25 member 4 | Kartais (5–29%) | 1 ligoje |
| SLC5A5solute carrier family 5 member 5 | Kartais (5–29%) | 2 ligose |
| SLC7A7solute carrier family 7 member 7 | Kartais (5–29%) | 1 ligoje |
| SUGCTsuccinyl-CoA:glutarate-CoA transferase | Kartais (5–29%) | 1 ligoje |
| TGthyroglobulin | Kartais (5–29%) | 1 ligoje |
| TPOthyroid peroxidase | Kartais (5–29%) | 1 ligoje |
| TSHBthyroid stimulating hormone subunit beta | Kartais (5–29%) | 1 ligoje |
| TWNKtwinkle mtDNA helicase | Kartais (5–29%) | 1 ligoje |
| UCP2uncoupling protein 2 | Kartais (5–29%) | 1 ligoje |
| YY1YY1 transcription factor | Kartais (5–29%) | 1 ligoje |
| ALDOBaldolase, fructose-bisphosphate B | Retai (1–4 %) | 2 ligose |
| BNC2basonuclin zinc finger protein 2 | Retai (1–4 %) | 1 ligoje |
| DPYDdihydropyrimidine dehydrogenase | Retai (1–4 %) | 1 ligoje |
| MT-CYBmitochondrially encoded cytochrome b | Retai (1–4 %) | 1 ligoje |
| ACADSBacyl-CoA dehydrogenase short/branched chain | Neužfiksuota | 1 ligoje |
| ASS1argininosuccinate synthase 1 | Neužfiksuota | 1 ligoje |
| BCKDHAbranched chain keto acid dehydrogenase E1 subunit alpha | Neužfiksuota | 1 ligoje |
| CYP24A1cytochrome P450 family 24 subfamily A member 1 | Neužfiksuota | 1 ligoje |
| DPYSdihydropyrimidinase | Neužfiksuota | 1 ligoje |
| EIF2B1eukaryotic translation initiation factor 2B subunit alpha | Neužfiksuota | 1 ligoje |
| FBP1fructose-bisphosphatase 1 | Neužfiksuota | 1 ligoje |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Neužfiksuota | 1 ligoje |
| GCH1GTP cyclohydrolase 1 | Neužfiksuota | 1 ligoje |
| GKglycerol kinase | Neužfiksuota | 1 ligoje |
| GLDCglycine decarboxylase | Neužfiksuota | 1 ligoje |
| KRT18keratin 18 | Neužfiksuota | 1 ligoje |
| LYRM7LYR motif containing 7 | Neužfiksuota | 1 ligoje |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Neužfiksuota | 1 ligoje |
| MCCC2methylcrotonyl-CoA carboxylase subunit 2 | Neužfiksuota | 1 ligoje |
| MMAAmetabolism of cobalamin associated A | Neužfiksuota | 1 ligoje |
| MMABmetabolism of cobalamin associated B | Neužfiksuota | 1 ligoje |
| NBASNBAS subunit of NRZ tethering complex | Neužfiksuota | 1 ligoje |
| PCCApropionyl-CoA carboxylase subunit alpha | Neužfiksuota | 1 ligoje |
| PCCBpropionyl-CoA carboxylase subunit beta | Neužfiksuota | 1 ligoje |
| PRDX1peroxiredoxin 1 | Neužfiksuota | 1 ligoje |
| SLC1A2solute carrier family 1 member 2 | Neužfiksuota | 1 ligoje |
| SLC22A5solute carrier family 22 member 5 | Neužfiksuota | 1 ligoje |
| SLC25A19solute carrier family 25 member 19 | Neužfiksuota | 1 ligoje |
| SLC39A4solute carrier family 39 member 4 | Neužfiksuota | 1 ligoje |
| SLC4A1solute carrier family 4 member 1 (Diego blood group) | Neužfiksuota | 1 ligoje |
| TBK1TANK binding kinase 1 | Neužfiksuota | 1 ligoje |
| TCN2transcobalamin 2 | Neužfiksuota | 1 ligoje |
| TLR3toll like receptor 3 | Neužfiksuota | 1 ligoje |
| USP18ubiquitin specific peptidase 18 | 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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