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Požymis
Cardiac failure
Klinikinis pavadinimas: Congestive heart failure
The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.
Santrauka
- Taip pat vadinama
- Cardiac failures, Heart failure, Cardiac insufficiency, CHF, Chronic heart failure
- Kūno sistema
- Abnormality of the cardiovascular system
Cardiac failureHP:0001635
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Read the genes linked to Cardiac failure, and the rest of your genome, with one test.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test270 genų susiję su Cardiac failure
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Cardiac failure. 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 |
|---|---|---|
| ABCC6ATP binding cassette subfamily C member 6 | Visada | 3 ligose |
| ABCC9ATP binding cassette subfamily C member 9 | Visada | 2 ligose |
| AMOTL1angiomotin like 1 | Visada | 1 ligoje |
| APOA1apolipoprotein A1 | Visada | 1 ligoje |
| BAG5BAG cochaperone 5 | Visada | 2 ligose |
| DAND5DAN domain BMP antagonist family member 5 | Visada | 1 ligoje |
| DNM1Ldynamin 1L | Visada | 1 ligoje |
| DSG2desmoglein 2 | Visada | 2 ligose |
| FBN1fibrillin 1 | Visada | 2 ligose |
| GATAD1GATA zinc finger domain containing 1 | Visada | 2 ligose |
| LAMP2lysosome associated membrane protein 2 | Visada | 1 ligoje |
| LDB3LIM domain binding 3 | Visada | 3 ligose |
| MYBPC3myosin binding protein C3 | Visada | 3 ligose |
| MYH6myosin heavy chain 6 | Visada | 5 ligose |
| MYZAPmyocardial zonula adherens protein | Visada | 1 ligoje |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Visada | 1 ligoje |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Visada | 1 ligoje |
| NRAPnebulin related anchoring protein | Visada | 2 ligose |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Visada | 2 ligose |
| RFC4replication factor C subunit 4 | Visada | 1 ligoje |
| RRAGCRas related GTP binding C | Visada | 1 ligoje |
| SCO1synthesis of cytochrome C oxidase 1 | Visada | 1 ligoje |
| SGCAsarcoglycan alpha | Visada | 1 ligoje |
| SGCDsarcoglycan delta | Visada | 2 ligose |
| SOX17SRY-box transcription factor 17 | Visada | 1 ligoje |
| TNNI3troponin I3, cardiac type | Visada | 3 ligose |
| TRIM63tripartite motif containing 63 | Visada | 1 ligoje |
| VCLvinculin | Visada | 2 ligose |
| CSRP3cysteine and glycine rich protein 3 | Labai dažnai (80–99%) | 2 ligose |
| EYA4EYA transcriptional coactivator and phosphatase 4 | Labai dažnai (80–99%) | 2 ligose |
| GLAgalactosidase alpha | Labai dažnai (80–99%) | 2 ligose |
| HBA1hemoglobin subunit alpha 1 | Labai dažnai (80–99%) | 1 ligoje |
| HBA2hemoglobin subunit alpha 2 | Labai dažnai (80–99%) | 1 ligoje |
| LMNAlamin A/C | Labai dažnai (80–99%) | 10 ligose |
| PRKAG2protein kinase AMP-activated non-catalytic subunit gamma 2 | Labai dažnai (80–99%) | 2 ligose |
| SCO2synthesis of cytochrome C oxidase 2 | Labai dažnai (80–99%) | 1 ligoje |
| SLC2A10solute carrier family 2 member 10 | Labai dažnai (80–99%) | 1 ligoje |
| TNNC1troponin C1, slow skeletal and cardiac type | Labai dažnai (80–99%) | 2 ligose |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Labai dažnai (80–99%) | 2 ligose |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Dažnai (30–79%) | 1 ligoje |
Rodyti dar 230 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ACAD9acyl-CoA dehydrogenase family member 9 | Dažnai (30–79%) | 2 ligose |
| ACTC1actin alpha cardiac muscle 1 | Dažnai (30–79%) | 4 ligose |
| ACTN2actinin alpha 2 | Dažnai (30–79%) | 2 ligose |
| ANKRD1ankyrin repeat domain 1 | Dažnai (30–79%) | 1 ligoje |
| ATP5F1AATP synthase F1 subunit alpha | Dažnai (30–79%) | 1 ligoje |
| ATP6V1AATPase H+ transporting V1 subunit A | Dažnai (30–79%) | 1 ligoje |
| ATXN7ataxin 7 | Dažnai (30–79%) | 1 ligoje |
| BAG3BAG cochaperone 3 | Dažnai (30–79%) | 2 ligose |
| CAP2cyclase associated actin cytoskeleton regulatory protein 2 | Dažnai (30–79%) | 1 ligoje |
| CLIC2CLIC family member 2 | Dažnai (30–79%) | 1 ligoje |
| COG7component of oligomeric golgi complex 7 | Dažnai (30–79%) | 1 ligoje |
| COX16cytochrome c oxidase assembly factor COX16 | Dažnai (30–79%) | 1 ligoje |
| CRYABcrystallin alpha B | Dažnai (30–79%) | 1 ligoje |
| DESdesmin | Dažnai (30–79%) | 3 ligose |
| DMDdystrophin | Dažnai (30–79%) | 3 ligose |
| DOLKdolichol kinase | Dažnai (30–79%) | 2 ligose |
| DSPdesmoplakin | Dažnai (30–79%) | 4 ligose |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Dažnai (30–79%) | 1 ligoje |
| ELAC2elaC ribonuclease Z 2 | Dažnai (30–79%) | 1 ligoje |
| ELNelastin | Dažnai (30–79%) | 3 ligose |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Dažnai (30–79%) | 1 ligoje |
| FBLN5fibulin 5 | Dažnai (30–79%) | 2 ligose |
| FGFR3fibroblast growth factor receptor 3 | Dažnai (30–79%) | 1 ligoje |
| FHL2four and a half LIM domains 2 | Dažnai (30–79%) | 1 ligoje |
| FKTNfukutin | Dažnai (30–79%) | 1 ligoje |
| FLIIFLII actin remodeling protein | Dažnai (30–79%) | 1 ligoje |
| FLNCfilamin C | Dažnai (30–79%) | 2 ligose |
| GET3guided entry of tail-anchored proteins factor 3, ATPase | 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 |
| HAND2heart and neural crest derivatives expressed 2 | Dažnai (30–79%) | 1 ligoje |
| IL6STinterleukin 6 cytokine family signal transducer | Dažnai (30–79%) | 1 ligoje |
| JPH2junctophilin 2 | Dažnai (30–79%) | 1 ligoje |
| JUPjunction plakoglobin | Dažnai (30–79%) | 2 ligose |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Dažnai (30–79%) | 1 ligoje |
| LAMA4laminin subunit alpha 4 | Dažnai (30–79%) | 1 ligoje |
| LMOD2leiomodin 2 | Dažnai (30–79%) | 1 ligoje |
| LTBP1latent transforming growth factor beta binding protein 1 | Dažnai (30–79%) | 1 ligoje |
| LYZlysozyme | Dažnai (30–79%) | 1 ligoje |
| MECP2methyl-CpG binding protein 2 | Dažnai (30–79%) | 1 ligoje |
| MRPL39mitochondrial ribosomal protein L39 | Dažnai (30–79%) | 1 ligoje |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Dažnai (30–79%) | 2 ligose |
| MYH7myosin heavy chain 7 | Dažnai (30–79%) | 6 ligose |
| MYPNmyopalladin | Dažnai (30–79%) | 2 ligose |
| MYSM1Myb like, SWIRM and MPN domains 1 | Dažnai (30–79%) | 1 ligoje |
| NEXNnexilin F-actin binding protein | Dažnai (30–79%) | 2 ligose |
| NKX2-5NK2 homeobox 5 | Dažnai (30–79%) | 2 ligose |
| PLNphospholamban | Dažnai (30–79%) | 2 ligose |
| PPCSphosphopantothenoylcysteine synthetase | Dažnai (30–79%) | 1 ligoje |
| PRDM16PR/SET domain 16 | Dažnai (30–79%) | 2 ligose |
| PSEN1presenilin 1 | Dažnai (30–79%) | 2 ligose |
| PSEN2presenilin 2 | Dažnai (30–79%) | 2 ligose |
| RBCK1RANBP2-type and C3HC4-type zinc finger containing 1 | Dažnai (30–79%) | 1 ligoje |
| RBM20RNA binding motif protein 20 | Dažnai (30–79%) | 1 ligoje |
| RPL3Lribosomal protein L3 like | Dažnai (30–79%) | 1 ligoje |
| RRAGDRas related GTP binding D | Dažnai (30–79%) | 1 ligoje |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Dažnai (30–79%) | 1 ligoje |
| SCN5Asodium voltage-gated channel alpha subunit 5 | Dažnai (30–79%) | 3 ligose |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Dažnai (30–79%) | 4 ligose |
| TAB2TGF-beta activated kinase 1 (MAP3K7) binding protein 2 | Dažnai (30–79%) | 1 ligoje |
| TAF1ATATA-box binding protein associated factor, RNA polymerase I subunit A | Dažnai (30–79%) | 1 ligoje |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Dažnai (30–79%) | 2 ligose |
| TCAPtitin-cap | Dažnai (30–79%) | 1 ligoje |
| TFAMtranscription factor A, mitochondrial | Dažnai (30–79%) | 1 ligoje |
| TMEM70transmembrane protein 70 | Dažnai (30–79%) | 1 ligoje |
| TMPOthymopoietin | Dažnai (30–79%) | 1 ligoje |
| TNNT2troponin T2, cardiac type | Dažnai (30–79%) | 2 ligose |
| TPM1tropomyosin 1 | Dažnai (30–79%) | 2 ligose |
| TRPM4transient receptor potential cation channel subfamily M member 4 | Dažnai (30–79%) | 1 ligoje |
| TTNtitin | Dažnai (30–79%) | 4 ligose |
| TXNRD2thioredoxin reductase 2 | Dažnai (30–79%) | 1 ligoje |
| VEZF1vascular endothelial zinc finger 1 | Dažnai (30–79%) | 2 ligose |
| WRNWRN RecQ like helicase | Dažnai (30–79%) | 1 ligoje |
| ACVRL1activin A receptor like type 1 | Kartais (5–29%) | 1 ligoje |
| ADCY5adenylate cyclase 5 | Kartais (5–29%) | 2 ligose |
| AFF4ALF transcription elongation factor 4 | Kartais (5–29%) | 1 ligoje |
| AGGF1angiogenic factor with G-patch and FHA domains 1 | Kartais (5–29%) | 1 ligoje |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Kartais (5–29%) | 1 ligoje |
| ALMS1ALMS1 centrosome and basal body associated protein | Kartais (5–29%) | 2 ligose |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Kartais (5–29%) | 1 ligoje |
| BMP6bone morphogenetic protein 6 | Kartais (5–29%) | 1 ligoje |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Kartais (5–29%) | 1 ligoje |
| CASRcalcium sensing receptor | Kartais (5–29%) | 1 ligoje |
| CAV1caveolin 1 | Kartais (5–29%) | 1 ligoje |
| CCN2cellular communication network factor 2 | Kartais (5–29%) | 1 ligoje |
| CCR6C-C motif chemokine receptor 6 | Kartais (5–29%) | 1 ligoje |
| CDH23cadherin related 23 | Kartais (5–29%) | 1 ligoje |
| CHD6chromodomain helicase DNA binding protein 6 | Kartais (5–29%) | 1 ligoje |
| CITED2Cbp/p300 interacting transactivator with ED-rich tail 2 | Kartais (5–29%) | 2 ligose |
| CLIP2CAP-Gly domain containing linker protein 2 | Kartais (5–29%) | 1 ligoje |
| CLPBClpB family mitochondrial disaggregase | Kartais (5–29%) | 1 ligoje |
| CPceruloplasmin | Kartais (5–29%) | 1 ligoje |
| DLSTdihydrolipoamide S-succinyltransferase | Kartais (5–29%) | 1 ligoje |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Kartais (5–29%) | 1 ligoje |
| DNMT3ADNA methyltransferase 3 alpha | Kartais (5–29%) | 1 ligoje |
| DOHHdeoxyhypusine hydroxylase | Kartais (5–29%) | 1 ligoje |
| DSTdystonin | Kartais (5–29%) | 1 ligoje |
| EIF4Heukaryotic translation initiation factor 4H | Kartais (5–29%) | 1 ligoje |
| ENGendoglin | Kartais (5–29%) | 1 ligoje |
| EPAS1endothelial PAS domain protein 1 | Kartais (5–29%) | 1 ligoje |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Kartais (5–29%) | 1 ligoje |
| FHfumarate hydratase | Kartais (5–29%) | 1 ligoje |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Kartais (5–29%) | 1 ligoje |
| GATA4GATA binding protein 4 | Kartais (5–29%) | 1 ligoje |
| GATA6GATA binding protein 6 | Kartais (5–29%) | 1 ligoje |
| GDF2growth differentiation factor 2 | Kartais (5–29%) | 1 ligoje |
| GNA11G protein subunit alpha 11 | Kartais (5–29%) | 1 ligoje |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Kartais (5–29%) | 2 ligose |
| GPR35G protein-coupled receptor 35 | Kartais (5–29%) | 1 ligoje |
| GTF2Igeneral transcription factor IIi | Kartais (5–29%) | 1 ligoje |
| GTF2IRD1GTF2I repeat domain containing 1 | Kartais (5–29%) | 1 ligoje |
| GTF2IRD2GTF2I repeat domain containing 2 | Kartais (5–29%) | 1 ligoje |
| GTPBP3GTP binding protein 3, mitochondrial | Kartais (5–29%) | 2 ligose |
| HFEhomeostatic iron regulator | Kartais (5–29%) | 2 ligose |
| HLA-Bmajor histocompatibility complex, class I, B | Kartais (5–29%) | 1 ligoje |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Kartais (5–29%) | 1 ligoje |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Kartais (5–29%) | 1 ligoje |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Kartais (5–29%) | 1 ligoje |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Kartais (5–29%) | 1 ligoje |
| IL12Binterleukin 12B | Kartais (5–29%) | 1 ligoje |
| IRF5interferon regulatory factor 5 | Kartais (5–29%) | 1 ligoje |
| KCTD1potassium channel tetramerization domain containing 1 | Kartais (5–29%) | 1 ligoje |
| KIF1Bkinesin family member 1B | Kartais (5–29%) | 2 ligose |
| LIMK1LIM domain kinase 1 | Kartais (5–29%) | 1 ligoje |
| LRPPRCleucine rich pentatricopeptide repeat containing | Kartais (5–29%) | 1 ligoje |
| MAPRE2microtubule associated protein RP/EB family member 2 | Kartais (5–29%) | 1 ligoje |
| MAXMYC associated transcriptional regulator X | Kartais (5–29%) | 2 ligose |
| MDH2malate dehydrogenase 2 | Kartais (5–29%) | 1 ligoje |
| METTL27methyltransferase like 27 | Kartais (5–29%) | 1 ligoje |
| MLXMAX dimerization protein MLX | Kartais (5–29%) | 1 ligoje |
| MST1macrophage stimulating 1 | Kartais (5–29%) | 1 ligoje |
| MT-CYBmitochondrially encoded cytochrome b | Kartais (5–29%) | 2 ligose |
| MYD88MYD88 innate immune signal transduction adaptor | Kartais (5–29%) | 1 ligoje |
| MYL3myosin light chain 3 | Kartais (5–29%) | 1 ligoje |
| NAXDNAD(P)HX dehydratase | Kartais (5–29%) | 1 ligoje |
| NCF1neutrophil cytosolic factor 1 | Kartais (5–29%) | 1 ligoje |
| NF1neurofibromin 1 | Kartais (5–29%) | 1 ligoje |
| NPPAnatriuretic peptide A | Kartais (5–29%) | 1 ligoje |
| PDE11Aphosphodiesterase 11A | Kartais (5–29%) | 1 ligoje |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Kartais (5–29%) | 1 ligoje |
| PNPLA2patatin like domain 2, triacylglycerol lipase | Kartais (5–29%) | 1 ligoje |
| PPARGperoxisome proliferator activated receptor gamma | Kartais (5–29%) | 1 ligoje |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Kartais (5–29%) | 3 ligose |
| PTENphosphatase and tensin homolog | Kartais (5–29%) | 1 ligoje |
| RETret proto-oncogene | Kartais (5–29%) | 3 ligose |
| RFC2replication factor C subunit 2 | Kartais (5–29%) | 1 ligoje |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Kartais (5–29%) | 1 ligoje |
| SDHAF2succinate dehydrogenase complex assembly factor 2 | Kartais (5–29%) | 1 ligoje |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Kartais (5–29%) | 2 ligose |
| SDHCsuccinate dehydrogenase complex subunit C | Kartais (5–29%) | 1 ligoje |
| SDHDsuccinate dehydrogenase complex subunit D | Kartais (5–29%) | 2 ligose |
| SELENONselenoprotein N | Kartais (5–29%) | 1 ligoje |
| SEMA4Dsemaphorin 4D | Kartais (5–29%) | 1 ligoje |
| SLC19A2solute carrier family 19 member 2 | Kartais (5–29%) | 1 ligoje |
| SLC25A11solute carrier family 25 member 11 | Kartais (5–29%) | 1 ligoje |
| SMAD4SMAD family member 4 | Kartais (5–29%) | 1 ligoje |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Kartais (5–29%) | 1 ligoje |
| SNAP29synaptosome associated protein 29 | Kartais (5–29%) | 1 ligoje |
| STAT1signal transducer and activator of transcription 1 | Kartais (5–29%) | 1 ligoje |
| STRADASTE20 related adaptor alpha | Kartais (5–29%) | 1 ligoje |
| STX1Asyntaxin 1A | Kartais (5–29%) | 1 ligoje |
| TBL2transducin beta like 2 | Kartais (5–29%) | 1 ligoje |
| TBX20T-box transcription factor 20 | Kartais (5–29%) | 1 ligoje |
| TCF4transcription factor 4 | Kartais (5–29%) | 1 ligoje |
| TLL1tolloid like 1 | Kartais (5–29%) | 2 ligose |
| TMEM127transmembrane protein 127 | Kartais (5–29%) | 2 ligose |
| TMEM270transmembrane protein 270 | Kartais (5–29%) | 1 ligoje |
| TNNI3KTNNI3 interacting kinase | Kartais (5–29%) | 1 ligoje |
| TRIP4thyroid hormone receptor interactor 4 | Kartais (5–29%) | 1 ligoje |
| TTRtransthyretin | Kartais (5–29%) | 1 ligoje |
| TUBBtubulin beta class I | Kartais (5–29%) | 1 ligoje |
| VCPvalosin containing protein | Kartais (5–29%) | 1 ligoje |
| VHLvon Hippel-Lindau tumor suppressor | Kartais (5–29%) | 3 ligose |
| VPS37DVPS37D subunit of ESCRT-I | Kartais (5–29%) | 1 ligoje |
| AP1S3adaptor related protein complex 1 subunit sigma 3 | Retai (1–4 %) | 1 ligoje |
| BCHEbutyrylcholinesterase | Retai (1–4 %) | 1 ligoje |
| IL36RNinterleukin 36 receptor antagonist | Retai (1–4 %) | 1 ligoje |
| MTTPmicrosomal triglyceride transfer protein | Retai (1–4 %) | 1 ligoje |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Retai (1–4 %) | 2 ligose |
| SF3B1splicing factor 3b subunit 1 | Retai (1–4 %) | 1 ligoje |
| SPTBN1spectrin beta, non-erythrocytic 1 | Retai (1–4 %) | 1 ligoje |
| TET2tet methylcytosine dioxygenase 2 | Retai (1–4 %) | 1 ligoje |
| XYLT1xylosyltransferase 1 | Retai (1–4 %) | 1 ligoje |
| XYLT2xylosyltransferase 2 | Retai (1–4 %) | 1 ligoje |
| ADAMTSL2ADAMTS like 2 | Neužfiksuota | 1 ligoje |
| BMP2bone morphogenetic protein 2 | Neužfiksuota | 1 ligoje |
| CAV3caveolin 3 | Neužfiksuota | 1 ligoje |
| CEP19centrosomal protein 19 | Neužfiksuota | 1 ligoje |
| COL1A1collagen type I alpha 1 chain | Neužfiksuota | 1 ligoje |
| COL1A2collagen type I alpha 2 chain | Neužfiksuota | 1 ligoje |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Neužfiksuota | 1 ligoje |
| DTNAdystrobrevin alpha | Neužfiksuota | 1 ligoje |
| EPG5ectopic P-granules 5 autophagy tethering factor | Neužfiksuota | 1 ligoje |
| FLNAfilamin A | Neužfiksuota | 1 ligoje |
| FXNfrataxin | Neužfiksuota | 2 ligose |
| GLB1galactosidase beta 1 | Neužfiksuota | 1 ligoje |
| HAMPhepcidin antimicrobial peptide | Neužfiksuota | 1 ligoje |
| HJVhemojuvelin BMP co-receptor | Neužfiksuota | 1 ligoje |
| IDSiduronate 2-sulfatase | Neužfiksuota | 1 ligoje |
| IFIH1interferon induced with helicase C domain 1 | Neužfiksuota | 1 ligoje |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Neužfiksuota | 1 ligoje |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Neužfiksuota | 1 ligoje |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Neužfiksuota | 1 ligoje |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Neužfiksuota | 1 ligoje |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Neužfiksuota | 1 ligoje |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Neužfiksuota | 1 ligoje |
| MT-TCmitochondrially encoded tRNA-Cys (UGU/C) | Neužfiksuota | 1 ligoje |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Neužfiksuota | 1 ligoje |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Neužfiksuota | 1 ligoje |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Neužfiksuota | 1 ligoje |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Neužfiksuota | 1 ligoje |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Neužfiksuota | 1 ligoje |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Neužfiksuota | 1 ligoje |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Neužfiksuota | 1 ligoje |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Neužfiksuota | 1 ligoje |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Neužfiksuota | 1 ligoje |
| NSMCE2NSE2 SUMO ligase component of SMC5/6 complex | Neužfiksuota | 1 ligoje |
| PEX7peroxisomal biogenesis factor 7 | Neužfiksuota | 1 ligoje |
| PHYHphytanoyl-CoA 2-hydroxylase | Neužfiksuota | 1 ligoje |
| PPA2inorganic pyrophosphatase 2 | Neužfiksuota | 1 ligoje |
| PSMB8proteasome 20S subunit beta 8 | Neužfiksuota | 1 ligoje |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Neužfiksuota | 1 ligoje |
| RPS19ribosomal protein S19 | Neužfiksuota | 1 ligoje |
| SLC17A5solute carrier family 17 member 5 | Neužfiksuota | 1 ligoje |
| SLC22A5solute carrier family 22 member 5 | Neužfiksuota | 1 ligoje |
| SLC25A26solute carrier family 25 member 26 | Neužfiksuota | 1 ligoje |
| TFtransferrin | Neužfiksuota | 1 ligoje |
| TMEM43transmembrane protein 43 | Neužfiksuota | 1 ligoje |
| TPI1triosephosphate isomerase 1 | Neužfiksuota | 1 ligoje |
| TRIM37tripartite motif containing 37 | 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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