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Egenskap
Cardiac failure
Klinisk navn: 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.
Sammendrag
- Også kalt
- Cardiac failures, Heart failure, Cardiac insufficiency, CHF, Chronic heart failure
- Kroppssystem
- 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.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test270 gener knyttet til Cardiac failure
Endringer i disse genene forårsaker sjeldne tilstander der Cardiac failure forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ABCC6ATP binding cassette subfamily C member 6 | Alltid | I 3 tilstander |
| ABCC9ATP binding cassette subfamily C member 9 | Alltid | I 2 tilstander |
| AMOTL1angiomotin like 1 | Alltid | I 1 tilstand |
| APOA1apolipoprotein A1 | Alltid | I 1 tilstand |
| BAG5BAG cochaperone 5 | Alltid | I 2 tilstander |
| DAND5DAN domain BMP antagonist family member 5 | Alltid | I 1 tilstand |
| DNM1Ldynamin 1L | Alltid | I 1 tilstand |
| DSG2desmoglein 2 | Alltid | I 2 tilstander |
| FBN1fibrillin 1 | Alltid | I 2 tilstander |
| GATAD1GATA zinc finger domain containing 1 | Alltid | I 2 tilstander |
| LAMP2lysosome associated membrane protein 2 | Alltid | I 1 tilstand |
| LDB3LIM domain binding 3 | Alltid | I 3 tilstander |
| MYBPC3myosin binding protein C3 | Alltid | I 3 tilstander |
| MYH6myosin heavy chain 6 | Alltid | I 5 tilstander |
| MYZAPmyocardial zonula adherens protein | Alltid | I 1 tilstand |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Alltid | I 1 tilstand |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Alltid | I 1 tilstand |
| NRAPnebulin related anchoring protein | Alltid | I 2 tilstander |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Alltid | I 2 tilstander |
| RFC4replication factor C subunit 4 | Alltid | I 1 tilstand |
| RRAGCRas related GTP binding C | Alltid | I 1 tilstand |
| SCO1synthesis of cytochrome C oxidase 1 | Alltid | I 1 tilstand |
| SGCAsarcoglycan alpha | Alltid | I 1 tilstand |
| SGCDsarcoglycan delta | Alltid | I 2 tilstander |
| SOX17SRY-box transcription factor 17 | Alltid | I 1 tilstand |
| TNNI3troponin I3, cardiac type | Alltid | I 3 tilstander |
| TRIM63tripartite motif containing 63 | Alltid | I 1 tilstand |
| VCLvinculin | Alltid | I 2 tilstander |
| CSRP3cysteine and glycine rich protein 3 | Svært ofte (80–99 %) | I 2 tilstander |
| EYA4EYA transcriptional coactivator and phosphatase 4 | Svært ofte (80–99 %) | I 2 tilstander |
| GLAgalactosidase alpha | Svært ofte (80–99 %) | I 2 tilstander |
| HBA1hemoglobin subunit alpha 1 | Svært ofte (80–99 %) | I 1 tilstand |
| HBA2hemoglobin subunit alpha 2 | Svært ofte (80–99 %) | I 1 tilstand |
| LMNAlamin A/C | Svært ofte (80–99 %) | I 10 tilstander |
| PRKAG2protein kinase AMP-activated non-catalytic subunit gamma 2 | Svært ofte (80–99 %) | I 2 tilstander |
| SCO2synthesis of cytochrome C oxidase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| SLC2A10solute carrier family 2 member 10 | Svært ofte (80–99 %) | I 1 tilstand |
| TNNC1troponin C1, slow skeletal and cardiac type | Svært ofte (80–99 %) | I 2 tilstander |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Svært ofte (80–99 %) | I 2 tilstander |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
Vis 230 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ACAD9acyl-CoA dehydrogenase family member 9 | Ofte (30–79 %) | I 2 tilstander |
| ACTC1actin alpha cardiac muscle 1 | Ofte (30–79 %) | I 4 tilstander |
| ACTN2actinin alpha 2 | Ofte (30–79 %) | I 2 tilstander |
| ANKRD1ankyrin repeat domain 1 | Ofte (30–79 %) | I 1 tilstand |
| ATP5F1AATP synthase F1 subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| ATP6V1AATPase H+ transporting V1 subunit A | Ofte (30–79 %) | I 1 tilstand |
| ATXN7ataxin 7 | Ofte (30–79 %) | I 1 tilstand |
| BAG3BAG cochaperone 3 | Ofte (30–79 %) | I 2 tilstander |
| CAP2cyclase associated actin cytoskeleton regulatory protein 2 | Ofte (30–79 %) | I 1 tilstand |
| CLIC2CLIC family member 2 | Ofte (30–79 %) | I 1 tilstand |
| COG7component of oligomeric golgi complex 7 | Ofte (30–79 %) | I 1 tilstand |
| COX16cytochrome c oxidase assembly factor COX16 | Ofte (30–79 %) | I 1 tilstand |
| CRYABcrystallin alpha B | Ofte (30–79 %) | I 1 tilstand |
| DESdesmin | Ofte (30–79 %) | I 3 tilstander |
| DMDdystrophin | Ofte (30–79 %) | I 3 tilstander |
| DOLKdolichol kinase | Ofte (30–79 %) | I 2 tilstander |
| DSPdesmoplakin | Ofte (30–79 %) | I 4 tilstander |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Ofte (30–79 %) | I 1 tilstand |
| ELAC2elaC ribonuclease Z 2 | Ofte (30–79 %) | I 1 tilstand |
| ELNelastin | Ofte (30–79 %) | I 3 tilstander |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Ofte (30–79 %) | I 1 tilstand |
| FBLN5fibulin 5 | Ofte (30–79 %) | I 2 tilstander |
| FGFR3fibroblast growth factor receptor 3 | Ofte (30–79 %) | I 1 tilstand |
| FHL2four and a half LIM domains 2 | Ofte (30–79 %) | I 1 tilstand |
| FKTNfukutin | Ofte (30–79 %) | I 1 tilstand |
| FLIIFLII actin remodeling protein | Ofte (30–79 %) | I 1 tilstand |
| FLNCfilamin C | Ofte (30–79 %) | I 2 tilstander |
| GET3guided entry of tail-anchored proteins factor 3, ATPase | Ofte (30–79 %) | I 1 tilstand |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Ofte (30–79 %) | I 2 tilstander |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Ofte (30–79 %) | I 1 tilstand |
| HAND2heart and neural crest derivatives expressed 2 | Ofte (30–79 %) | I 1 tilstand |
| IL6STinterleukin 6 cytokine family signal transducer | Ofte (30–79 %) | I 1 tilstand |
| JPH2junctophilin 2 | Ofte (30–79 %) | I 1 tilstand |
| JUPjunction plakoglobin | Ofte (30–79 %) | I 2 tilstander |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Ofte (30–79 %) | I 1 tilstand |
| LAMA4laminin subunit alpha 4 | Ofte (30–79 %) | I 1 tilstand |
| LMOD2leiomodin 2 | Ofte (30–79 %) | I 1 tilstand |
| LTBP1latent transforming growth factor beta binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| LYZlysozyme | Ofte (30–79 %) | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| MRPL39mitochondrial ribosomal protein L39 | Ofte (30–79 %) | I 1 tilstand |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Ofte (30–79 %) | I 2 tilstander |
| MYH7myosin heavy chain 7 | Ofte (30–79 %) | I 6 tilstander |
| MYPNmyopalladin | Ofte (30–79 %) | I 2 tilstander |
| MYSM1Myb like, SWIRM and MPN domains 1 | Ofte (30–79 %) | I 1 tilstand |
| NEXNnexilin F-actin binding protein | Ofte (30–79 %) | I 2 tilstander |
| NKX2-5NK2 homeobox 5 | Ofte (30–79 %) | I 2 tilstander |
| PLNphospholamban | Ofte (30–79 %) | I 2 tilstander |
| PPCSphosphopantothenoylcysteine synthetase | Ofte (30–79 %) | I 1 tilstand |
| PRDM16PR/SET domain 16 | Ofte (30–79 %) | I 2 tilstander |
| PSEN1presenilin 1 | Ofte (30–79 %) | I 2 tilstander |
| PSEN2presenilin 2 | Ofte (30–79 %) | I 2 tilstander |
| RBCK1RANBP2-type and C3HC4-type zinc finger containing 1 | Ofte (30–79 %) | I 1 tilstand |
| RBM20RNA binding motif protein 20 | Ofte (30–79 %) | I 1 tilstand |
| RPL3Lribosomal protein L3 like | Ofte (30–79 %) | I 1 tilstand |
| RRAGDRas related GTP binding D | Ofte (30–79 %) | I 1 tilstand |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| SCN5Asodium voltage-gated channel alpha subunit 5 | Ofte (30–79 %) | I 3 tilstander |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Ofte (30–79 %) | I 4 tilstander |
| TAB2TGF-beta activated kinase 1 (MAP3K7) binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| TAF1ATATA-box binding protein associated factor, RNA polymerase I subunit A | Ofte (30–79 %) | I 1 tilstand |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Ofte (30–79 %) | I 2 tilstander |
| TCAPtitin-cap | Ofte (30–79 %) | I 1 tilstand |
| TFAMtranscription factor A, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| TMEM70transmembrane protein 70 | Ofte (30–79 %) | I 1 tilstand |
| TMPOthymopoietin | Ofte (30–79 %) | I 1 tilstand |
| TNNT2troponin T2, cardiac type | Ofte (30–79 %) | I 2 tilstander |
| TPM1tropomyosin 1 | Ofte (30–79 %) | I 2 tilstander |
| TRPM4transient receptor potential cation channel subfamily M member 4 | Ofte (30–79 %) | I 1 tilstand |
| TTNtitin | Ofte (30–79 %) | I 4 tilstander |
| TXNRD2thioredoxin reductase 2 | Ofte (30–79 %) | I 1 tilstand |
| VEZF1vascular endothelial zinc finger 1 | Ofte (30–79 %) | I 2 tilstander |
| WRNWRN RecQ like helicase | Ofte (30–79 %) | I 1 tilstand |
| ACVRL1activin A receptor like type 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ADCY5adenylate cyclase 5 | Noen ganger (5–29 %) | I 2 tilstander |
| AFF4ALF transcription elongation factor 4 | Noen ganger (5–29 %) | I 1 tilstand |
| AGGF1angiogenic factor with G-patch and FHA domains 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Noen ganger (5–29 %) | I 1 tilstand |
| ALMS1ALMS1 centrosome and basal body associated protein | Noen ganger (5–29 %) | I 2 tilstander |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Noen ganger (5–29 %) | I 1 tilstand |
| BMP6bone morphogenetic protein 6 | Noen ganger (5–29 %) | I 1 tilstand |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Noen ganger (5–29 %) | I 1 tilstand |
| CASRcalcium sensing receptor | Noen ganger (5–29 %) | I 1 tilstand |
| CAV1caveolin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CCN2cellular communication network factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CCR6C-C motif chemokine receptor 6 | Noen ganger (5–29 %) | I 1 tilstand |
| CDH23cadherin related 23 | Noen ganger (5–29 %) | I 1 tilstand |
| CHD6chromodomain helicase DNA binding protein 6 | Noen ganger (5–29 %) | I 1 tilstand |
| CITED2Cbp/p300 interacting transactivator with ED-rich tail 2 | Noen ganger (5–29 %) | I 2 tilstander |
| CLIP2CAP-Gly domain containing linker protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CLPBClpB family mitochondrial disaggregase | Noen ganger (5–29 %) | I 1 tilstand |
| CPceruloplasmin | Noen ganger (5–29 %) | I 1 tilstand |
| DLSTdihydrolipoamide S-succinyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Noen ganger (5–29 %) | I 1 tilstand |
| DNMT3ADNA methyltransferase 3 alpha | Noen ganger (5–29 %) | I 1 tilstand |
| DOHHdeoxyhypusine hydroxylase | Noen ganger (5–29 %) | I 1 tilstand |
| DSTdystonin | Noen ganger (5–29 %) | I 1 tilstand |
| EIF4Heukaryotic translation initiation factor 4H | Noen ganger (5–29 %) | I 1 tilstand |
| ENGendoglin | Noen ganger (5–29 %) | I 1 tilstand |
| EPAS1endothelial PAS domain protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FHfumarate hydratase | Noen ganger (5–29 %) | I 1 tilstand |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Noen ganger (5–29 %) | I 1 tilstand |
| GATA4GATA binding protein 4 | Noen ganger (5–29 %) | I 1 tilstand |
| GATA6GATA binding protein 6 | Noen ganger (5–29 %) | I 1 tilstand |
| GDF2growth differentiation factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GNA11G protein subunit alpha 11 | Noen ganger (5–29 %) | I 1 tilstand |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Noen ganger (5–29 %) | I 2 tilstander |
| GPR35G protein-coupled receptor 35 | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2Igeneral transcription factor IIi | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2IRD1GTF2I repeat domain containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2IRD2GTF2I repeat domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GTPBP3GTP binding protein 3, mitochondrial | Noen ganger (5–29 %) | I 2 tilstander |
| HFEhomeostatic iron regulator | Noen ganger (5–29 %) | I 2 tilstander |
| HLA-Bmajor histocompatibility complex, class I, B | Noen ganger (5–29 %) | I 1 tilstand |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Noen ganger (5–29 %) | I 1 tilstand |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Noen ganger (5–29 %) | I 1 tilstand |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| IL12Binterleukin 12B | Noen ganger (5–29 %) | I 1 tilstand |
| IRF5interferon regulatory factor 5 | Noen ganger (5–29 %) | I 1 tilstand |
| KCTD1potassium channel tetramerization domain containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KIF1Bkinesin family member 1B | Noen ganger (5–29 %) | I 2 tilstander |
| LIMK1LIM domain kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| LRPPRCleucine rich pentatricopeptide repeat containing | Noen ganger (5–29 %) | I 1 tilstand |
| MAPRE2microtubule associated protein RP/EB family member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MAXMYC associated transcriptional regulator X | Noen ganger (5–29 %) | I 2 tilstander |
| MDH2malate dehydrogenase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| METTL27methyltransferase like 27 | Noen ganger (5–29 %) | I 1 tilstand |
| MLXMAX dimerization protein MLX | Noen ganger (5–29 %) | I 1 tilstand |
| MST1macrophage stimulating 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-CYBmitochondrially encoded cytochrome b | Noen ganger (5–29 %) | I 2 tilstander |
| MYD88MYD88 innate immune signal transduction adaptor | Noen ganger (5–29 %) | I 1 tilstand |
| MYL3myosin light chain 3 | Noen ganger (5–29 %) | I 1 tilstand |
| NAXDNAD(P)HX dehydratase | Noen ganger (5–29 %) | I 1 tilstand |
| NCF1neutrophil cytosolic factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NF1neurofibromin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NPPAnatriuretic peptide A | Noen ganger (5–29 %) | I 1 tilstand |
| PDE11Aphosphodiesterase 11A | Noen ganger (5–29 %) | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| PNPLA2patatin like domain 2, triacylglycerol lipase | Noen ganger (5–29 %) | I 1 tilstand |
| PPARGperoxisome proliferator activated receptor gamma | Noen ganger (5–29 %) | I 1 tilstand |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Noen ganger (5–29 %) | I 3 tilstander |
| PTENphosphatase and tensin homolog | Noen ganger (5–29 %) | I 1 tilstand |
| RETret proto-oncogene | Noen ganger (5–29 %) | I 3 tilstander |
| RFC2replication factor C subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SDHAF2succinate dehydrogenase complex assembly factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Noen ganger (5–29 %) | I 2 tilstander |
| SDHCsuccinate dehydrogenase complex subunit C | Noen ganger (5–29 %) | I 1 tilstand |
| SDHDsuccinate dehydrogenase complex subunit D | Noen ganger (5–29 %) | I 2 tilstander |
| SELENONselenoprotein N | Noen ganger (5–29 %) | I 1 tilstand |
| SEMA4Dsemaphorin 4D | Noen ganger (5–29 %) | I 1 tilstand |
| SLC19A2solute carrier family 19 member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC25A11solute carrier family 25 member 11 | Noen ganger (5–29 %) | I 1 tilstand |
| SMAD4SMAD family member 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SNAP29synaptosome associated protein 29 | Noen ganger (5–29 %) | I 1 tilstand |
| STAT1signal transducer and activator of transcription 1 | Noen ganger (5–29 %) | I 1 tilstand |
| STRADASTE20 related adaptor alpha | Noen ganger (5–29 %) | I 1 tilstand |
| STX1Asyntaxin 1A | Noen ganger (5–29 %) | I 1 tilstand |
| TBL2transducin beta like 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TBX20T-box transcription factor 20 | Noen ganger (5–29 %) | I 1 tilstand |
| TCF4transcription factor 4 | Noen ganger (5–29 %) | I 1 tilstand |
| TLL1tolloid like 1 | Noen ganger (5–29 %) | I 2 tilstander |
| TMEM127transmembrane protein 127 | Noen ganger (5–29 %) | I 2 tilstander |
| TMEM270transmembrane protein 270 | Noen ganger (5–29 %) | I 1 tilstand |
| TNNI3KTNNI3 interacting kinase | Noen ganger (5–29 %) | I 1 tilstand |
| TRIP4thyroid hormone receptor interactor 4 | Noen ganger (5–29 %) | I 1 tilstand |
| TTRtransthyretin | Noen ganger (5–29 %) | I 1 tilstand |
| TUBBtubulin beta class I | Noen ganger (5–29 %) | I 1 tilstand |
| VCPvalosin containing protein | Noen ganger (5–29 %) | I 1 tilstand |
| VHLvon Hippel-Lindau tumor suppressor | Noen ganger (5–29 %) | I 3 tilstander |
| VPS37DVPS37D subunit of ESCRT-I | Noen ganger (5–29 %) | I 1 tilstand |
| AP1S3adaptor related protein complex 1 subunit sigma 3 | Sjelden (1–4%) | I 1 tilstand |
| BCHEbutyrylcholinesterase | Sjelden (1–4%) | I 1 tilstand |
| IL36RNinterleukin 36 receptor antagonist | Sjelden (1–4%) | I 1 tilstand |
| MTTPmicrosomal triglyceride transfer protein | Sjelden (1–4%) | I 1 tilstand |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Sjelden (1–4%) | I 2 tilstander |
| SF3B1splicing factor 3b subunit 1 | Sjelden (1–4%) | I 1 tilstand |
| SPTBN1spectrin beta, non-erythrocytic 1 | Sjelden (1–4%) | I 1 tilstand |
| TET2tet methylcytosine dioxygenase 2 | Sjelden (1–4%) | I 1 tilstand |
| XYLT1xylosyltransferase 1 | Sjelden (1–4%) | I 1 tilstand |
| XYLT2xylosyltransferase 2 | Sjelden (1–4%) | I 1 tilstand |
| ADAMTSL2ADAMTS like 2 | Ikke registrert | I 1 tilstand |
| BMP2bone morphogenetic protein 2 | Ikke registrert | I 1 tilstand |
| CAV3caveolin 3 | Ikke registrert | I 1 tilstand |
| CEP19centrosomal protein 19 | Ikke registrert | I 1 tilstand |
| COL1A1collagen type I alpha 1 chain | Ikke registrert | I 1 tilstand |
| COL1A2collagen type I alpha 2 chain | Ikke registrert | I 1 tilstand |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Ikke registrert | I 1 tilstand |
| DTNAdystrobrevin alpha | Ikke registrert | I 1 tilstand |
| EPG5ectopic P-granules 5 autophagy tethering factor | Ikke registrert | I 1 tilstand |
| FLNAfilamin A | Ikke registrert | I 1 tilstand |
| FXNfrataxin | Ikke registrert | I 2 tilstander |
| GLB1galactosidase beta 1 | Ikke registrert | I 1 tilstand |
| HAMPhepcidin antimicrobial peptide | Ikke registrert | I 1 tilstand |
| HJVhemojuvelin BMP co-receptor | Ikke registrert | I 1 tilstand |
| IDSiduronate 2-sulfatase | Ikke registrert | I 1 tilstand |
| IFIH1interferon induced with helicase C domain 1 | Ikke registrert | I 1 tilstand |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Ikke registrert | I 1 tilstand |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Ikke registrert | I 1 tilstand |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Ikke registrert | I 1 tilstand |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Ikke registrert | I 1 tilstand |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Ikke registrert | I 1 tilstand |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Ikke registrert | I 1 tilstand |
| MT-TCmitochondrially encoded tRNA-Cys (UGU/C) | Ikke registrert | I 1 tilstand |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Ikke registrert | I 1 tilstand |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Ikke registrert | I 1 tilstand |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Ikke registrert | I 1 tilstand |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Ikke registrert | I 1 tilstand |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Ikke registrert | I 1 tilstand |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Ikke registrert | I 1 tilstand |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Ikke registrert | I 1 tilstand |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Ikke registrert | I 1 tilstand |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Ikke registrert | I 1 tilstand |
| NSMCE2NSE2 SUMO ligase component of SMC5/6 complex | Ikke registrert | I 1 tilstand |
| PEX7peroxisomal biogenesis factor 7 | Ikke registrert | I 1 tilstand |
| PHYHphytanoyl-CoA 2-hydroxylase | Ikke registrert | I 1 tilstand |
| PPA2inorganic pyrophosphatase 2 | Ikke registrert | I 1 tilstand |
| PSMB8proteasome 20S subunit beta 8 | Ikke registrert | I 1 tilstand |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Ikke registrert | I 1 tilstand |
| RPS19ribosomal protein S19 | Ikke registrert | I 1 tilstand |
| SLC17A5solute carrier family 17 member 5 | Ikke registrert | I 1 tilstand |
| SLC22A5solute carrier family 22 member 5 | Ikke registrert | I 1 tilstand |
| SLC25A26solute carrier family 25 member 26 | Ikke registrert | I 1 tilstand |
| TFtransferrin | Ikke registrert | I 1 tilstand |
| TMEM43transmembrane protein 43 | Ikke registrert | I 1 tilstand |
| TPI1triosephosphate isomerase 1 | Ikke registrert | I 1 tilstand |
| TRIM37tripartite motif containing 37 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Smalere egenskaper
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
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