Cecha
Cardiac failure
Nazwa kliniczna: 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.
Podsumowanie
- Znana także jako
- Cardiac failures, Heart failure, Cardiac insufficiency, CHF, Chronic heart failure
- Układ organizmu
- Abnormality of the cardiovascular system
Genom referencyjnyGRCh38hg38
Pozycje na stronach genów i wariantów zależą od tego wyboru, w tej przeglądarce.
Read the genes linked to Cardiac failure, and the rest of your genome, with one test.
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Zamawiam Genome Test270 genów powiązanych z Cardiac failure
Zmiany w tych genach powodują rzadkie choroby, w których występuje Cardiac failure. Większość osób z tą cechą nie ma żadnej z tych chorób, a gen z tej listy nic nie mówi o czyimkolwiek własnym genomie.
| Gen | Jak często występuje | Choroby |
|---|---|---|
| ABCC6ATP binding cassette subfamily C member 6 | Zawsze | W 3 chorobach |
| ABCC9ATP binding cassette subfamily C member 9 | Zawsze | W 2 chorobach |
| AMOTL1angiomotin like 1 | Zawsze | W 1 chorobie |
| APOA1apolipoprotein A1 | Zawsze | W 1 chorobie |
| BAG5BAG cochaperone 5 | Zawsze | W 2 chorobach |
| DAND5DAN domain BMP antagonist family member 5 | Zawsze | W 1 chorobie |
| DNM1Ldynamin 1L | Zawsze | W 1 chorobie |
| DSG2desmoglein 2 | Zawsze | W 2 chorobach |
| FBN1fibrillin 1 | Zawsze | W 2 chorobach |
| GATAD1GATA zinc finger domain containing 1 | Zawsze | W 2 chorobach |
| LAMP2lysosome associated membrane protein 2 | Zawsze | W 1 chorobie |
| LDB3LIM domain binding 3 | Zawsze | W 3 chorobach |
| MYBPC3myosin binding protein C3 | Zawsze | W 3 chorobach |
| MYH6myosin heavy chain 6 | Zawsze | W 5 chorobach |
| MYZAPmyocardial zonula adherens protein | Zawsze | W 1 chorobie |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Zawsze | W 1 chorobie |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Zawsze | W 1 chorobie |
| NRAPnebulin related anchoring protein | Zawsze | W 2 chorobach |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Zawsze | W 2 chorobach |
| RFC4replication factor C subunit 4 | Zawsze | W 1 chorobie |
| RRAGCRas related GTP binding C | Zawsze | W 1 chorobie |
| SCO1synthesis of cytochrome C oxidase 1 | Zawsze | W 1 chorobie |
| SGCAsarcoglycan alpha | Zawsze | W 1 chorobie |
| SGCDsarcoglycan delta | Zawsze | W 2 chorobach |
| SOX17SRY-box transcription factor 17 | Zawsze | W 1 chorobie |
| TNNI3troponin I3, cardiac type | Zawsze | W 3 chorobach |
| TRIM63tripartite motif containing 63 | Zawsze | W 1 chorobie |
| VCLvinculin | Zawsze | W 2 chorobach |
| CSRP3cysteine and glycine rich protein 3 | Bardzo często (80–99%) | W 2 chorobach |
| EYA4EYA transcriptional coactivator and phosphatase 4 | Bardzo często (80–99%) | W 2 chorobach |
| GLAgalactosidase alpha | Bardzo często (80–99%) | W 2 chorobach |
| HBA1hemoglobin subunit alpha 1 | Bardzo często (80–99%) | W 1 chorobie |
| HBA2hemoglobin subunit alpha 2 | Bardzo często (80–99%) | W 1 chorobie |
| LMNAlamin A/C | Bardzo często (80–99%) | W 10 chorobach |
| PRKAG2protein kinase AMP-activated non-catalytic subunit gamma 2 | Bardzo często (80–99%) | W 2 chorobach |
| SCO2synthesis of cytochrome C oxidase 2 | Bardzo często (80–99%) | W 1 chorobie |
| SLC2A10solute carrier family 2 member 10 | Bardzo często (80–99%) | W 1 chorobie |
| TNNC1troponin C1, slow skeletal and cardiac type | Bardzo często (80–99%) | W 2 chorobach |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Bardzo często (80–99%) | W 2 chorobach |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Często (30–79%) | W 1 chorobie |
Pokaż jeszcze 230 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| ACAD9acyl-CoA dehydrogenase family member 9 | Często (30–79%) | W 2 chorobach |
| ACTC1actin alpha cardiac muscle 1 | Często (30–79%) | W 4 chorobach |
| ACTN2actinin alpha 2 | Często (30–79%) | W 2 chorobach |
| ANKRD1ankyrin repeat domain 1 | Często (30–79%) | W 1 chorobie |
| ATP5F1AATP synthase F1 subunit alpha | Często (30–79%) | W 1 chorobie |
| ATP6V1AATPase H+ transporting V1 subunit A | Często (30–79%) | W 1 chorobie |
| ATXN7ataxin 7 | Często (30–79%) | W 1 chorobie |
| BAG3BAG cochaperone 3 | Często (30–79%) | W 2 chorobach |
| CAP2cyclase associated actin cytoskeleton regulatory protein 2 | Często (30–79%) | W 1 chorobie |
| CLIC2CLIC family member 2 | Często (30–79%) | W 1 chorobie |
| COG7component of oligomeric golgi complex 7 | Często (30–79%) | W 1 chorobie |
| COX16cytochrome c oxidase assembly factor COX16 | Często (30–79%) | W 1 chorobie |
| CRYABcrystallin alpha B | Często (30–79%) | W 1 chorobie |
| DESdesmin | Często (30–79%) | W 3 chorobach |
| DMDdystrophin | Często (30–79%) | W 3 chorobach |
| DOLKdolichol kinase | Często (30–79%) | W 2 chorobach |
| DSPdesmoplakin | Często (30–79%) | W 4 chorobach |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Często (30–79%) | W 1 chorobie |
| ELAC2elaC ribonuclease Z 2 | Często (30–79%) | W 1 chorobie |
| ELNelastin | Często (30–79%) | W 3 chorobach |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Często (30–79%) | W 1 chorobie |
| FBLN5fibulin 5 | Często (30–79%) | W 2 chorobach |
| FGFR3fibroblast growth factor receptor 3 | Często (30–79%) | W 1 chorobie |
| FHL2four and a half LIM domains 2 | Często (30–79%) | W 1 chorobie |
| FKTNfukutin | Często (30–79%) | W 1 chorobie |
| FLIIFLII actin remodeling protein | Często (30–79%) | W 1 chorobie |
| FLNCfilamin C | Często (30–79%) | W 2 chorobach |
| GET3guided entry of tail-anchored proteins factor 3, ATPase | Często (30–79%) | W 1 chorobie |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Często (30–79%) | W 2 chorobach |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Często (30–79%) | W 1 chorobie |
| HAND2heart and neural crest derivatives expressed 2 | Często (30–79%) | W 1 chorobie |
| IL6STinterleukin 6 cytokine family signal transducer | Często (30–79%) | W 1 chorobie |
| JPH2junctophilin 2 | Często (30–79%) | W 1 chorobie |
| JUPjunction plakoglobin | Często (30–79%) | W 2 chorobach |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Często (30–79%) | W 1 chorobie |
| LAMA4laminin subunit alpha 4 | Często (30–79%) | W 1 chorobie |
| LMOD2leiomodin 2 | Często (30–79%) | W 1 chorobie |
| LTBP1latent transforming growth factor beta binding protein 1 | Często (30–79%) | W 1 chorobie |
| LYZlysozyme | Często (30–79%) | W 1 chorobie |
| MECP2methyl-CpG binding protein 2 | Często (30–79%) | W 1 chorobie |
| MRPL39mitochondrial ribosomal protein L39 | Często (30–79%) | W 1 chorobie |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Często (30–79%) | W 2 chorobach |
| MYH7myosin heavy chain 7 | Często (30–79%) | W 6 chorobach |
| MYPNmyopalladin | Często (30–79%) | W 2 chorobach |
| MYSM1Myb like, SWIRM and MPN domains 1 | Często (30–79%) | W 1 chorobie |
| NEXNnexilin F-actin binding protein | Często (30–79%) | W 2 chorobach |
| NKX2-5NK2 homeobox 5 | Często (30–79%) | W 2 chorobach |
| PLNphospholamban | Często (30–79%) | W 2 chorobach |
| PPCSphosphopantothenoylcysteine synthetase | Często (30–79%) | W 1 chorobie |
| PRDM16PR/SET domain 16 | Często (30–79%) | W 2 chorobach |
| PSEN1presenilin 1 | Często (30–79%) | W 2 chorobach |
| PSEN2presenilin 2 | Często (30–79%) | W 2 chorobach |
| RBCK1RANBP2-type and C3HC4-type zinc finger containing 1 | Często (30–79%) | W 1 chorobie |
| RBM20RNA binding motif protein 20 | Często (30–79%) | W 1 chorobie |
| RPL3Lribosomal protein L3 like | Często (30–79%) | W 1 chorobie |
| RRAGDRas related GTP binding D | Często (30–79%) | W 1 chorobie |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Często (30–79%) | W 1 chorobie |
| SCN5Asodium voltage-gated channel alpha subunit 5 | Często (30–79%) | W 3 chorobach |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Często (30–79%) | W 4 chorobach |
| TAB2TGF-beta activated kinase 1 (MAP3K7) binding protein 2 | Często (30–79%) | W 1 chorobie |
| TAF1ATATA-box binding protein associated factor, RNA polymerase I subunit A | Często (30–79%) | W 1 chorobie |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Często (30–79%) | W 2 chorobach |
| TCAPtitin-cap | Często (30–79%) | W 1 chorobie |
| TFAMtranscription factor A, mitochondrial | Często (30–79%) | W 1 chorobie |
| TMEM70transmembrane protein 70 | Często (30–79%) | W 1 chorobie |
| TMPOthymopoietin | Często (30–79%) | W 1 chorobie |
| TNNT2troponin T2, cardiac type | Często (30–79%) | W 2 chorobach |
| TPM1tropomyosin 1 | Często (30–79%) | W 2 chorobach |
| TRPM4transient receptor potential cation channel subfamily M member 4 | Często (30–79%) | W 1 chorobie |
| TTNtitin | Często (30–79%) | W 4 chorobach |
| TXNRD2thioredoxin reductase 2 | Często (30–79%) | W 1 chorobie |
| VEZF1vascular endothelial zinc finger 1 | Często (30–79%) | W 2 chorobach |
| WRNWRN RecQ like helicase | Często (30–79%) | W 1 chorobie |
| ACVRL1activin A receptor like type 1 | Czasami (5–29%) | W 1 chorobie |
| ADCY5adenylate cyclase 5 | Czasami (5–29%) | W 2 chorobach |
| AFF4ALF transcription elongation factor 4 | Czasami (5–29%) | W 1 chorobie |
| AGGF1angiogenic factor with G-patch and FHA domains 1 | Czasami (5–29%) | W 1 chorobie |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Czasami (5–29%) | W 1 chorobie |
| ALMS1ALMS1 centrosome and basal body associated protein | Czasami (5–29%) | W 2 chorobach |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Czasami (5–29%) | W 1 chorobie |
| BMP6bone morphogenetic protein 6 | Czasami (5–29%) | W 1 chorobie |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Czasami (5–29%) | W 1 chorobie |
| CASRcalcium sensing receptor | Czasami (5–29%) | W 1 chorobie |
| CAV1caveolin 1 | Czasami (5–29%) | W 1 chorobie |
| CCN2cellular communication network factor 2 | Czasami (5–29%) | W 1 chorobie |
| CCR6C-C motif chemokine receptor 6 | Czasami (5–29%) | W 1 chorobie |
| CDH23cadherin related 23 | Czasami (5–29%) | W 1 chorobie |
| CHD6chromodomain helicase DNA binding protein 6 | Czasami (5–29%) | W 1 chorobie |
| CITED2Cbp/p300 interacting transactivator with ED-rich tail 2 | Czasami (5–29%) | W 2 chorobach |
| CLIP2CAP-Gly domain containing linker protein 2 | Czasami (5–29%) | W 1 chorobie |
| CLPBClpB family mitochondrial disaggregase | Czasami (5–29%) | W 1 chorobie |
| CPceruloplasmin | Czasami (5–29%) | W 1 chorobie |
| DLSTdihydrolipoamide S-succinyltransferase | Czasami (5–29%) | W 1 chorobie |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Czasami (5–29%) | W 1 chorobie |
| DNMT3ADNA methyltransferase 3 alpha | Czasami (5–29%) | W 1 chorobie |
| DOHHdeoxyhypusine hydroxylase | Czasami (5–29%) | W 1 chorobie |
| DSTdystonin | Czasami (5–29%) | W 1 chorobie |
| EIF4Heukaryotic translation initiation factor 4H | Czasami (5–29%) | W 1 chorobie |
| ENGendoglin | Czasami (5–29%) | W 1 chorobie |
| EPAS1endothelial PAS domain protein 1 | Czasami (5–29%) | W 1 chorobie |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Czasami (5–29%) | W 1 chorobie |
| FHfumarate hydratase | Czasami (5–29%) | W 1 chorobie |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Czasami (5–29%) | W 1 chorobie |
| GATA4GATA binding protein 4 | Czasami (5–29%) | W 1 chorobie |
| GATA6GATA binding protein 6 | Czasami (5–29%) | W 1 chorobie |
| GDF2growth differentiation factor 2 | Czasami (5–29%) | W 1 chorobie |
| GNA11G protein subunit alpha 11 | Czasami (5–29%) | W 1 chorobie |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Czasami (5–29%) | W 2 chorobach |
| GPR35G protein-coupled receptor 35 | Czasami (5–29%) | W 1 chorobie |
| GTF2Igeneral transcription factor IIi | Czasami (5–29%) | W 1 chorobie |
| GTF2IRD1GTF2I repeat domain containing 1 | Czasami (5–29%) | W 1 chorobie |
| GTF2IRD2GTF2I repeat domain containing 2 | Czasami (5–29%) | W 1 chorobie |
| GTPBP3GTP binding protein 3, mitochondrial | Czasami (5–29%) | W 2 chorobach |
| HFEhomeostatic iron regulator | Czasami (5–29%) | W 2 chorobach |
| HLA-Bmajor histocompatibility complex, class I, B | Czasami (5–29%) | W 1 chorobie |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Czasami (5–29%) | W 1 chorobie |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Czasami (5–29%) | W 1 chorobie |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Czasami (5–29%) | W 1 chorobie |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Czasami (5–29%) | W 1 chorobie |
| IL12Binterleukin 12B | Czasami (5–29%) | W 1 chorobie |
| IRF5interferon regulatory factor 5 | Czasami (5–29%) | W 1 chorobie |
| KCTD1potassium channel tetramerization domain containing 1 | Czasami (5–29%) | W 1 chorobie |
| KIF1Bkinesin family member 1B | Czasami (5–29%) | W 2 chorobach |
| LIMK1LIM domain kinase 1 | Czasami (5–29%) | W 1 chorobie |
| LRPPRCleucine rich pentatricopeptide repeat containing | Czasami (5–29%) | W 1 chorobie |
| MAPRE2microtubule associated protein RP/EB family member 2 | Czasami (5–29%) | W 1 chorobie |
| MAXMYC associated transcriptional regulator X | Czasami (5–29%) | W 2 chorobach |
| MDH2malate dehydrogenase 2 | Czasami (5–29%) | W 1 chorobie |
| METTL27methyltransferase like 27 | Czasami (5–29%) | W 1 chorobie |
| MLXMAX dimerization protein MLX | Czasami (5–29%) | W 1 chorobie |
| MST1macrophage stimulating 1 | Czasami (5–29%) | W 1 chorobie |
| MT-CYBmitochondrially encoded cytochrome b | Czasami (5–29%) | W 2 chorobach |
| MYD88MYD88 innate immune signal transduction adaptor | Czasami (5–29%) | W 1 chorobie |
| MYL3myosin light chain 3 | Czasami (5–29%) | W 1 chorobie |
| NAXDNAD(P)HX dehydratase | Czasami (5–29%) | W 1 chorobie |
| NCF1neutrophil cytosolic factor 1 | Czasami (5–29%) | W 1 chorobie |
| NF1neurofibromin 1 | Czasami (5–29%) | W 1 chorobie |
| NPPAnatriuretic peptide A | Czasami (5–29%) | W 1 chorobie |
| PDE11Aphosphodiesterase 11A | Czasami (5–29%) | W 1 chorobie |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Czasami (5–29%) | W 1 chorobie |
| PNPLA2patatin like domain 2, triacylglycerol lipase | Czasami (5–29%) | W 1 chorobie |
| PPARGperoxisome proliferator activated receptor gamma | Czasami (5–29%) | W 1 chorobie |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Czasami (5–29%) | W 3 chorobach |
| PTENphosphatase and tensin homolog | Czasami (5–29%) | W 1 chorobie |
| RETret proto-oncogene | Czasami (5–29%) | W 3 chorobach |
| RFC2replication factor C subunit 2 | Czasami (5–29%) | W 1 chorobie |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Czasami (5–29%) | W 1 chorobie |
| SDHAF2succinate dehydrogenase complex assembly factor 2 | Czasami (5–29%) | W 1 chorobie |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Czasami (5–29%) | W 2 chorobach |
| SDHCsuccinate dehydrogenase complex subunit C | Czasami (5–29%) | W 1 chorobie |
| SDHDsuccinate dehydrogenase complex subunit D | Czasami (5–29%) | W 2 chorobach |
| SELENONselenoprotein N | Czasami (5–29%) | W 1 chorobie |
| SEMA4Dsemaphorin 4D | Czasami (5–29%) | W 1 chorobie |
| SLC19A2solute carrier family 19 member 2 | Czasami (5–29%) | W 1 chorobie |
| SLC25A11solute carrier family 25 member 11 | Czasami (5–29%) | W 1 chorobie |
| SMAD4SMAD family member 4 | Czasami (5–29%) | W 1 chorobie |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Czasami (5–29%) | W 1 chorobie |
| SNAP29synaptosome associated protein 29 | Czasami (5–29%) | W 1 chorobie |
| STAT1signal transducer and activator of transcription 1 | Czasami (5–29%) | W 1 chorobie |
| STRADASTE20 related adaptor alpha | Czasami (5–29%) | W 1 chorobie |
| STX1Asyntaxin 1A | Czasami (5–29%) | W 1 chorobie |
| TBL2transducin beta like 2 | Czasami (5–29%) | W 1 chorobie |
| TBX20T-box transcription factor 20 | Czasami (5–29%) | W 1 chorobie |
| TCF4transcription factor 4 | Czasami (5–29%) | W 1 chorobie |
| TLL1tolloid like 1 | Czasami (5–29%) | W 2 chorobach |
| TMEM127transmembrane protein 127 | Czasami (5–29%) | W 2 chorobach |
| TMEM270transmembrane protein 270 | Czasami (5–29%) | W 1 chorobie |
| TNNI3KTNNI3 interacting kinase | Czasami (5–29%) | W 1 chorobie |
| TRIP4thyroid hormone receptor interactor 4 | Czasami (5–29%) | W 1 chorobie |
| TTRtransthyretin | Czasami (5–29%) | W 1 chorobie |
| TUBBtubulin beta class I | Czasami (5–29%) | W 1 chorobie |
| VCPvalosin containing protein | Czasami (5–29%) | W 1 chorobie |
| VHLvon Hippel-Lindau tumor suppressor | Czasami (5–29%) | W 3 chorobach |
| VPS37DVPS37D subunit of ESCRT-I | Czasami (5–29%) | W 1 chorobie |
| AP1S3adaptor related protein complex 1 subunit sigma 3 | Rzadko (1–4%) | W 1 chorobie |
| BCHEbutyrylcholinesterase | Rzadko (1–4%) | W 1 chorobie |
| IL36RNinterleukin 36 receptor antagonist | Rzadko (1–4%) | W 1 chorobie |
| MTTPmicrosomal triglyceride transfer protein | Rzadko (1–4%) | W 1 chorobie |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Rzadko (1–4%) | W 2 chorobach |
| SF3B1splicing factor 3b subunit 1 | Rzadko (1–4%) | W 1 chorobie |
| SPTBN1spectrin beta, non-erythrocytic 1 | Rzadko (1–4%) | W 1 chorobie |
| TET2tet methylcytosine dioxygenase 2 | Rzadko (1–4%) | W 1 chorobie |
| XYLT1xylosyltransferase 1 | Rzadko (1–4%) | W 1 chorobie |
| XYLT2xylosyltransferase 2 | Rzadko (1–4%) | W 1 chorobie |
| ADAMTSL2ADAMTS like 2 | Nie odnotowano | W 1 chorobie |
| BMP2bone morphogenetic protein 2 | Nie odnotowano | W 1 chorobie |
| CAV3caveolin 3 | Nie odnotowano | W 1 chorobie |
| CEP19centrosomal protein 19 | Nie odnotowano | W 1 chorobie |
| COL1A1collagen type I alpha 1 chain | Nie odnotowano | W 1 chorobie |
| COL1A2collagen type I alpha 2 chain | Nie odnotowano | W 1 chorobie |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Nie odnotowano | W 1 chorobie |
| DTNAdystrobrevin alpha | Nie odnotowano | W 1 chorobie |
| EPG5ectopic P-granules 5 autophagy tethering factor | Nie odnotowano | W 1 chorobie |
| FLNAfilamin A | Nie odnotowano | W 1 chorobie |
| FXNfrataxin | Nie odnotowano | W 2 chorobach |
| GLB1galactosidase beta 1 | Nie odnotowano | W 1 chorobie |
| HAMPhepcidin antimicrobial peptide | Nie odnotowano | W 1 chorobie |
| HJVhemojuvelin BMP co-receptor | Nie odnotowano | W 1 chorobie |
| IDSiduronate 2-sulfatase | Nie odnotowano | W 1 chorobie |
| IFIH1interferon induced with helicase C domain 1 | Nie odnotowano | W 1 chorobie |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Nie odnotowano | W 1 chorobie |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Nie odnotowano | W 1 chorobie |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Nie odnotowano | W 1 chorobie |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Nie odnotowano | W 1 chorobie |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Nie odnotowano | W 1 chorobie |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Nie odnotowano | W 1 chorobie |
| MT-TCmitochondrially encoded tRNA-Cys (UGU/C) | Nie odnotowano | W 1 chorobie |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Nie odnotowano | W 1 chorobie |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Nie odnotowano | W 1 chorobie |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Nie odnotowano | W 1 chorobie |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Nie odnotowano | W 1 chorobie |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Nie odnotowano | W 1 chorobie |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Nie odnotowano | W 1 chorobie |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Nie odnotowano | W 1 chorobie |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Nie odnotowano | W 1 chorobie |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Nie odnotowano | W 1 chorobie |
| NSMCE2NSE2 SUMO ligase component of SMC5/6 complex | Nie odnotowano | W 1 chorobie |
| PEX7peroxisomal biogenesis factor 7 | Nie odnotowano | W 1 chorobie |
| PHYHphytanoyl-CoA 2-hydroxylase | Nie odnotowano | W 1 chorobie |
| PPA2inorganic pyrophosphatase 2 | Nie odnotowano | W 1 chorobie |
| PSMB8proteasome 20S subunit beta 8 | Nie odnotowano | W 1 chorobie |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Nie odnotowano | W 1 chorobie |
| RPS19ribosomal protein S19 | Nie odnotowano | W 1 chorobie |
| SLC17A5solute carrier family 17 member 5 | Nie odnotowano | W 1 chorobie |
| SLC22A5solute carrier family 22 member 5 | Nie odnotowano | W 1 chorobie |
| SLC25A26solute carrier family 25 member 26 | Nie odnotowano | W 1 chorobie |
| TFtransferrin | Nie odnotowano | W 1 chorobie |
| TMEM43transmembrane protein 43 | Nie odnotowano | W 1 chorobie |
| TPI1triosephosphate isomerase 1 | Nie odnotowano | W 1 chorobie |
| TRIM37tripartite motif containing 37 | Nie odnotowano | W 1 chorobie |
Jak często występuje wśród osób z jedną z chorób związanych z tym genem, najczęściej spośród wszystkich, według danych Human Phenotype Ontology. Te strony opisują cechy i badania, na których się opierają; nie są diagnozą, a w sprawie objawów należy zwrócić się do lekarza lub doradcy genetycznego.
Cechy podrzędne
Cechy nadrzędne
Skąd pochodzą te dane
- Human Phenotype Ontology, wydanie 2026-09-01: cecha, jej nazwy, definicja oraz geny z nią powiązane. Więcej informacji znajdą Państwo na stronie hpo.jax.org.
- Wydanie danych 2026.10.16-c6eea6bf.
Jeden test. Odpowiedzi na całe życie.
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