Egenskap
Abnormal heart rate
Klinisk navn: Arrhythmia
Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.
Sammendrag
- Også kalt
- Heart rhythm disorders, Irregular heart beat, Irregular heartbeat, Arrhythmias, Cardiac arrhythmia, Cardiac arrhythmias, Cardiac rhythm disturbances
- Kroppssystem
- Abnormality of the cardiovascular system
ReferansegenomGRCh38hg38
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Endringer i disse genene forårsaker sjeldne tilstander der Abnormal heart rate 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 |
|---|---|---|
| CRELD1CRELD disulfide isomerase 1 | Alltid | I 1 tilstand |
| JKAMPJNK1/MAPK8 associated membrane protein | Alltid | I 1 tilstand |
| LMNAlamin A/C | Alltid | I 5 tilstander |
| OAS22'-5'-oligoadenylate synthetase 2 | Alltid | I 1 tilstand |
| TOP3ADNA topoisomerase III alpha | Alltid | I 1 tilstand |
| TTNtitin | Alltid | I 2 tilstander |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Svært ofte (80–99 %) | I 2 tilstander |
| ELNelastin | Svært ofte (80–99 %) | I 1 tilstand |
| GPX4glutathione peroxidase 4 | Svært ofte (80–99 %) | I 2 tilstander |
| JUPjunction plakoglobin | Svært ofte (80–99 %) | I 1 tilstand |
| NKX2-5NK2 homeobox 5 | Svært ofte (80–99 %) | I 3 tilstander |
| PHOX2Bpaired like homeobox 2B | Svært ofte (80–99 %) | I 1 tilstand |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Svært ofte (80–99 %) | I 2 tilstander |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Svært ofte (80–99 %) | I 4 tilstander |
| SCNN1Asodium channel epithelial 1 subunit alpha | Svært ofte (80–99 %) | I 2 tilstander |
| SCNN1Bsodium channel epithelial 1 subunit beta | Svært ofte (80–99 %) | I 2 tilstander |
| SCNN1Gsodium channel epithelial 1 subunit gamma | Svært ofte (80–99 %) | I 2 tilstander |
| SLC25A20solute carrier family 25 member 20 | Svært ofte (80–99 %) | I 1 tilstand |
| TSPYL1TSPY like 1 | Svært ofte (80–99 %) | I 1 tilstand |
| ABCC9ATP binding cassette subfamily C member 9 | Ofte (30–79 %) | I 1 tilstand |
| ACTC1actin alpha cardiac muscle 1 | Ofte (30–79 %) | I 2 tilstander |
| ACTN2actinin alpha 2 | Ofte (30–79 %) | I 1 tilstand |
| ANKRD1ankyrin repeat domain 1 | Ofte (30–79 %) | I 1 tilstand |
| ATP5F1AATP synthase F1 subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| ATP5F1DATP synthase F1 subunit delta | Ofte (30–79 %) | I 1 tilstand |
| ATP5F1EATP synthase F1 subunit epsilon | Ofte (30–79 %) | I 1 tilstand |
| ATP5MKATP synthase membrane subunit k | Ofte (30–79 %) | I 1 tilstand |
| ATP5POATP synthase peripheral stalk subunit OSCP | Ofte (30–79 %) | I 1 tilstand |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Ofte (30–79 %) | I 1 tilstand |
| BAG3BAG cochaperone 3 | Ofte (30–79 %) | I 1 tilstand |
| BAG5BAG cochaperone 5 | Ofte (30–79 %) | I 1 tilstand |
| BMP2bone morphogenetic protein 2 | Ofte (30–79 %) | I 2 tilstander |
| CAP2cyclase associated actin cytoskeleton regulatory protein 2 | Ofte (30–79 %) | I 1 tilstand |
| CASRcalcium sensing receptor | Ofte (30–79 %) | I 1 tilstand |
| CBLCbl proto-oncogene | Ofte (30–79 %) | I 1 tilstand |
| COX7Bcytochrome c oxidase subunit 7B | Ofte (30–79 %) | I 2 tilstander |
| CPT2carnitine palmitoyltransferase 2 | Ofte (30–79 %) | I 3 tilstander |
| CRYABcrystallin alpha B | Ofte (30–79 %) | I 1 tilstand |
| CSRP3cysteine and glycine rich protein 3 | Ofte (30–79 %) | I 1 tilstand |
| DESdesmin | Ofte (30–79 %) | I 1 tilstand |
Vis 199 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| DMDdystrophin | Ofte (30–79 %) | I 3 tilstander |
| DOLKdolichol kinase | Ofte (30–79 %) | I 2 tilstander |
| DSG2desmoglein 2 | Ofte (30–79 %) | I 1 tilstand |
| DSPdesmoplakin | 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 |
| FLNCfilamin C | Ofte (30–79 %) | I 1 tilstand |
| GATAD1GATA zinc finger domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| GDAP1ganglioside induced differentiation associated protein 1 | Ofte (30–79 %) | I 1 tilstand |
| GET3guided entry of tail-anchored proteins factor 3, ATPase | Ofte (30–79 %) | I 1 tilstand |
| GNA11G protein subunit alpha 11 | Ofte (30–79 %) | I 1 tilstand |
| GNB5G protein subunit beta 5 | Ofte (30–79 %) | I 1 tilstand |
| GSNgelsolin | Ofte (30–79 %) | I 1 tilstand |
| GYG1glycogenin 1 | Ofte (30–79 %) | I 1 tilstand |
| HAND2heart and neural crest derivatives expressed 2 | Ofte (30–79 %) | I 1 tilstand |
| HCCSholocytochrome c synthase | Ofte (30–79 %) | I 2 tilstander |
| JPH2junctophilin 2 | Ofte (30–79 %) | I 1 tilstand |
| KCNE1potassium voltage-gated channel subfamily E regulatory subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| KCNQ1potassium voltage-gated channel subfamily Q member 1 | Ofte (30–79 %) | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Ofte (30–79 %) | I 1 tilstand |
| LAMA4laminin subunit alpha 4 | Ofte (30–79 %) | I 1 tilstand |
| LDB3LIM domain binding 3 | Ofte (30–79 %) | I 1 tilstand |
| LEMD2LEM domain nuclear envelope protein 2 | Ofte (30–79 %) | I 1 tilstand |
| LMOD2leiomodin 2 | Ofte (30–79 %) | I 1 tilstand |
| LZTR1leucine zipper like post translational regulator 1 | Ofte (30–79 %) | I 1 tilstand |
| MRASmuscle RAS oncogene homolog | Ofte (30–79 %) | I 1 tilstand |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Ofte (30–79 %) | I 3 tilstander |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Ofte (30–79 %) | I 1 tilstand |
| MYBPC3myosin binding protein C3 | Ofte (30–79 %) | I 1 tilstand |
| MYH6myosin heavy chain 6 | Ofte (30–79 %) | I 3 tilstander |
| MYH7myosin heavy chain 7 | Ofte (30–79 %) | I 3 tilstander |
| MYPNmyopalladin | Ofte (30–79 %) | I 1 tilstand |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Ofte (30–79 %) | I 2 tilstander |
| NEXNnexilin F-actin binding protein | Ofte (30–79 %) | I 1 tilstand |
| NPPAnatriuretic peptide A | Ofte (30–79 %) | I 1 tilstand |
| NRAPnebulin related anchoring protein | Ofte (30–79 %) | I 1 tilstand |
| NRASNRAS proto-oncogene, GTPase | Ofte (30–79 %) | I 1 tilstand |
| PCCApropionyl-CoA carboxylase subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| PCCBpropionyl-CoA carboxylase subunit beta | Ofte (30–79 %) | I 1 tilstand |
| PEX1peroxisomal biogenesis factor 1 | Ofte (30–79 %) | I 2 tilstander |
| PEX6peroxisomal biogenesis factor 6 | Ofte (30–79 %) | I 2 tilstander |
| PLNphospholamban | Ofte (30–79 %) | I 1 tilstand |
| PNPLA2patatin like domain 2, triacylglycerol lipase | Ofte (30–79 %) | I 1 tilstand |
| PPCSphosphopantothenoylcysteine synthetase | Ofte (30–79 %) | I 1 tilstand |
| PRDM16PR/SET domain 16 | Ofte (30–79 %) | I 2 tilstander |
| PSEN1presenilin 1 | Ofte (30–79 %) | I 1 tilstand |
| PSEN2presenilin 2 | Ofte (30–79 %) | I 1 tilstand |
| PSMB8proteasome 20S subunit beta 8 | Ofte (30–79 %) | I 1 tilstand |
| RASA2RAS p21 protein activator 2 | Ofte (30–79 %) | I 1 tilstand |
| RBM20RNA binding motif protein 20 | Ofte (30–79 %) | I 1 tilstand |
| RIT1Ras like without CAAX 1 | Ofte (30–79 %) | I 1 tilstand |
| RPL3Lribosomal protein L3 like | Ofte (30–79 %) | I 1 tilstand |
| RRASRAS related | Ofte (30–79 %) | I 1 tilstand |
| RRAS2RAS related 2 | 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 2 tilstander |
| SGCDsarcoglycan delta | Ofte (30–79 %) | I 1 tilstand |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Ofte (30–79 %) | I 1 tilstand |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Ofte (30–79 %) | I 1 tilstand |
| SPRED2sprouty related EVH1 domain containing 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 3 tilstander |
| TANGO2transport and golgi organization 2 homolog | Ofte (30–79 %) | I 1 tilstand |
| TCAPtitin-cap | Ofte (30–79 %) | I 1 tilstand |
| TMPOthymopoietin | Ofte (30–79 %) | I 1 tilstand |
| TNNC1troponin C1, slow skeletal and cardiac type | Ofte (30–79 %) | I 1 tilstand |
| TNNI3troponin I3, cardiac type | Ofte (30–79 %) | I 1 tilstand |
| TNNT2troponin T2, cardiac type | Ofte (30–79 %) | I 1 tilstand |
| TPM1tropomyosin 1 | Ofte (30–79 %) | I 1 tilstand |
| TRPM4transient receptor potential cation channel subfamily M member 4 | Ofte (30–79 %) | I 2 tilstander |
| TTRtransthyretin | Ofte (30–79 %) | I 2 tilstander |
| TXNRD2thioredoxin reductase 2 | Ofte (30–79 %) | I 1 tilstand |
| VCLvinculin | Ofte (30–79 %) | I 1 tilstand |
| VEZF1vascular endothelial zinc finger 1 | Ofte (30–79 %) | I 1 tilstand |
| WASWASP actin nucleation promoting factor | Ofte (30–79 %) | I 1 tilstand |
| ACADMacyl-CoA dehydrogenase medium chain | Noen ganger (5–29 %) | I 1 tilstand |
| AIPAHR interacting HSP90 co-chaperone | Noen ganger (5–29 %) | I 1 tilstand |
| ALDOAaldolase, fructose-bisphosphate A | Noen ganger (5–29 %) | I 1 tilstand |
| ASLargininosuccinate lyase | Noen ganger (5–29 %) | I 1 tilstand |
| BTNL2butyrophilin like 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CACNA1Scalcium voltage-gated channel subunit alpha1 S | Noen ganger (5–29 %) | I 1 tilstand |
| CCND1cyclin D1 | Noen ganger (5–29 %) | I 1 tilstand |
| CITED2Cbp/p300 interacting transactivator with ED-rich tail 2 | Noen ganger (5–29 %) | I 1 tilstand |
| COL4A1collagen type IV alpha 1 chain | Noen ganger (5–29 %) | I 1 tilstand |
| CPT1Acarnitine palmitoyltransferase 1A | Noen ganger (5–29 %) | I 2 tilstander |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Noen ganger (5–29 %) | I 1 tilstand |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Noen ganger (5–29 %) | I 1 tilstand |
| FBXL4F-box and leucine rich repeat protein 4 | Noen ganger (5–29 %) | I 1 tilstand |
| FHL1four and a half LIM domains 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FOXC2forkhead box C2 | Noen ganger (5–29 %) | I 2 tilstander |
| GATA4GATA binding protein 4 | Noen ganger (5–29 %) | I 1 tilstand |
| GATA6GATA binding protein 6 | Noen ganger (5–29 %) | I 1 tilstand |
| GJA1gap junction protein alpha 1 | Noen ganger (5–29 %) | I 2 tilstander |
| GLAgalactosidase alpha | Noen ganger (5–29 %) | I 2 tilstander |
| GNAQG protein subunit alpha q | Noen ganger (5–29 %) | I 1 tilstand |
| GPR101G protein-coupled receptor 101 | Noen ganger (5–29 %) | I 1 tilstand |
| GTPBP3GTP binding protein 3, mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Noen ganger (5–29 %) | I 2 tilstander |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Noen ganger (5–29 %) | I 1 tilstand |
| HDAC4histone deacetylase 4 | Noen ganger (5–29 %) | I 1 tilstand |
| HLA-Bmajor histocompatibility complex, class I, B | Noen ganger (5–29 %) | I 2 tilstander |
| HLA-DPA1major histocompatibility complex, class II, DP alpha 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HLA-DPB1major histocompatibility complex, class II, DP beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Noen ganger (5–29 %) | I 2 tilstander |
| HSPG2heparan sulfate proteoglycan 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNE3potassium voltage-gated channel subfamily E regulatory subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| LAMA2laminin subunit alpha 2 | Noen ganger (5–29 %) | I 1 tilstand |
| LPIN1lipin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MEFVMEFV innate immunity regulator, pyrin | Noen ganger (5–29 %) | I 1 tilstand |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| MGME1mitochondrial genome maintenance exonuclease 1 | Noen ganger (5–29 %) | I 2 tilstander |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Noen ganger (5–29 %) | I 3 tilstander |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Noen ganger (5–29 %) | I 4 tilstander |
| MT-CYBmitochondrially encoded cytochrome b | Noen ganger (5–29 %) | I 3 tilstander |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Noen ganger (5–29 %) | I 3 tilstander |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Noen ganger (5–29 %) | I 2 tilstander |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Noen ganger (5–29 %) | I 2 tilstander |
| MT-ND4Lmitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L | Noen ganger (5–29 %) | I 2 tilstander |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Noen ganger (5–29 %) | I 3 tilstander |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Noen ganger (5–29 %) | I 3 tilstander |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Noen ganger (5–29 %) | I 2 tilstander |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Noen ganger (5–29 %) | I 1 tilstand |
| OBSCNobscurin, cytoskeletal calmodulin and titin-interacting RhoGEF | Noen ganger (5–29 %) | I 1 tilstand |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PEX10peroxisomal biogenesis factor 10 | Noen ganger (5–29 %) | I 1 tilstand |
| PEX11Bperoxisomal biogenesis factor 11 beta | Noen ganger (5–29 %) | I 1 tilstand |
| PEX12peroxisomal biogenesis factor 12 | Noen ganger (5–29 %) | I 1 tilstand |
| PEX13peroxisomal biogenesis factor 13 | Noen ganger (5–29 %) | I 1 tilstand |
| PEX14peroxisomal biogenesis factor 14 | Noen ganger (5–29 %) | I 1 tilstand |
| PEX16peroxisomal biogenesis factor 16 | Noen ganger (5–29 %) | I 1 tilstand |
| PEX19peroxisomal biogenesis factor 19 | Noen ganger (5–29 %) | I 1 tilstand |
| PEX2peroxisomal biogenesis factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PEX26peroxisomal biogenesis factor 26 | Noen ganger (5–29 %) | I 1 tilstand |
| PEX3peroxisomal biogenesis factor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| PEX5peroxisomal biogenesis factor 5 | Noen ganger (5–29 %) | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| POLGDNA polymerase gamma, catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| POLG2DNA polymerase gamma 2, accessory subunit | Noen ganger (5–29 %) | I 2 tilstander |
| PRTN3proteinase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Noen ganger (5–29 %) | I 2 tilstander |
| RAI1retinoic acid induced 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Noen ganger (5–29 %) | I 1 tilstand |
| SALL4spalt like transcription factor 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Noen ganger (5–29 %) | I 2 tilstander |
| SCUBE3signal peptide, CUB domain and EGF like domain containing 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Noen ganger (5–29 %) | I 1 tilstand |
| SDHCsuccinate dehydrogenase complex subunit C | Noen ganger (5–29 %) | I 1 tilstand |
| SLC25A4solute carrier family 25 member 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC40A1solute carrier family 40 member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SOX10SRY-box transcription factor 10 | Noen ganger (5–29 %) | I 1 tilstand |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Noen ganger (5–29 %) | I 1 tilstand |
| TBX20T-box transcription factor 20 | Noen ganger (5–29 %) | I 1 tilstand |
| TBX3T-box transcription factor 3 | Noen ganger (5–29 %) | I 2 tilstander |
| TLL1tolloid like 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM70transmembrane protein 70 | Noen ganger (5–29 %) | I 2 tilstander |
| TTPAalpha tocopherol transfer protein | Noen ganger (5–29 %) | I 1 tilstand |
| TWNKtwinkle mtDNA helicase | Noen ganger (5–29 %) | I 2 tilstander |
| VHLvon Hippel-Lindau tumor suppressor | Noen ganger (5–29 %) | I 1 tilstand |
| ACADVLacyl-CoA dehydrogenase very long chain | Sjelden (1–4%) | I 1 tilstand |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Sjelden (1–4%) | I 1 tilstand |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Sjelden (1–4%) | I 1 tilstand |
| BMP6bone morphogenetic protein 6 | Sjelden (1–4%) | I 1 tilstand |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Sjelden (1–4%) | I 1 tilstand |
| CLCN1chloride voltage-gated channel 1 | Sjelden (1–4%) | I 1 tilstand |
| HBBhemoglobin subunit beta | Sjelden (1–4%) | I 2 tilstander |
| HFEhomeostatic iron regulator | Sjelden (1–4%) | I 2 tilstander |
| HRASHRas proto-oncogene, GTPase | Sjelden (1–4%) | I 2 tilstander |
| IVDisovaleryl-CoA dehydrogenase | Sjelden (1–4%) | I 1 tilstand |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Sjelden (1–4%) | I 2 tilstander |
| RHOBTB2Rho related BTB domain containing 2 | Sjelden (1–4%) | I 1 tilstand |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Sjelden (1–4%) | I 1 tilstand |
| SLC1A3solute carrier family 1 member 3 | Sjelden (1–4%) | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Sjelden (1–4%) | I 1 tilstand |
| CAV3caveolin 3 | Ikke registrert | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Ikke registrert | I 1 tilstand |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Ikke registrert | I 1 tilstand |
| ETFAelectron transfer flavoprotein subunit alpha | Ikke registrert | I 1 tilstand |
| ETFBelectron transfer flavoprotein subunit beta | Ikke registrert | I 1 tilstand |
| ETFDHelectron transfer flavoprotein dehydrogenase | Ikke registrert | I 1 tilstand |
| GPC3glypican 3 | Ikke registrert | I 1 tilstand |
| HJVhemojuvelin BMP co-receptor | Ikke registrert | I 1 tilstand |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | 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-TKmitochondrially encoded tRNA-Lys (AAA/G) | Ikke registrert | I 1 tilstand |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | 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 |
| PEX7peroxisomal biogenesis factor 7 | Ikke registrert | I 1 tilstand |
| PHYHphytanoyl-CoA 2-hydroxylase | Ikke registrert | I 1 tilstand |
| SLC19A2solute carrier family 19 member 2 | Ikke registrert | I 1 tilstand |
| SYNE2spectrin repeat containing nuclear envelope protein 2 | Ikke registrert | I 1 tilstand |
| TDP2tyrosyl-DNA phosphodiesterase 2 | Ikke registrert | I 1 tilstand |
| WIPI2WD repeat domain, phosphoinositide interacting 2 | 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.
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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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