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Kenmerk
Abnormal heart rate
Klinische naam: 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.
Samenvatting
- Ook bekend als
- Heart rhythm disorders, Irregular heart beat, Irregular heartbeat, Arrhythmias, Cardiac arrhythmia, Cardiac arrhythmias, Cardiac rhythm disturbances
- Lichaamssysteem
- Abnormality of the cardiovascular system
Abnormal heart rateHP:0011675
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Mijn Genome Test bestellen239 genen gekoppeld aan Abnormal heart rate
Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Abnormal heart rate voorkomt. De meeste mensen met dit kenmerk hebben geen van die aandoeningen, en een gen op deze lijst zegt niets over het eigen genoom van iemand.
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| CRELD1CRELD disulfide isomerase 1 | Altijd | In 1 aandoening |
| JKAMPJNK1/MAPK8 associated membrane protein | Altijd | In 1 aandoening |
| LMNAlamin A/C | Altijd | In 5 aandoeningen |
| OAS22'-5'-oligoadenylate synthetase 2 | Altijd | In 1 aandoening |
| TOP3ADNA topoisomerase III alpha | Altijd | In 1 aandoening |
| TTNtitin | Altijd | In 2 aandoeningen |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Heel vaak (80–99%) | In 2 aandoeningen |
| ELNelastin | Heel vaak (80–99%) | In 1 aandoening |
| GPX4glutathione peroxidase 4 | Heel vaak (80–99%) | In 2 aandoeningen |
| JUPjunction plakoglobin | Heel vaak (80–99%) | In 1 aandoening |
| NKX2-5NK2 homeobox 5 | Heel vaak (80–99%) | In 3 aandoeningen |
| PHOX2Bpaired like homeobox 2B | Heel vaak (80–99%) | In 1 aandoening |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Heel vaak (80–99%) | In 2 aandoeningen |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Heel vaak (80–99%) | In 4 aandoeningen |
| SCNN1Asodium channel epithelial 1 subunit alpha | Heel vaak (80–99%) | In 2 aandoeningen |
| SCNN1Bsodium channel epithelial 1 subunit beta | Heel vaak (80–99%) | In 2 aandoeningen |
| SCNN1Gsodium channel epithelial 1 subunit gamma | Heel vaak (80–99%) | In 2 aandoeningen |
| SLC25A20solute carrier family 25 member 20 | Heel vaak (80–99%) | In 1 aandoening |
| TSPYL1TSPY like 1 | Heel vaak (80–99%) | In 1 aandoening |
| ABCC9ATP binding cassette subfamily C member 9 | Vaak (30–79%) | In 1 aandoening |
| ACTC1actin alpha cardiac muscle 1 | Vaak (30–79%) | In 2 aandoeningen |
| ACTN2actinin alpha 2 | Vaak (30–79%) | In 1 aandoening |
| ANKRD1ankyrin repeat domain 1 | Vaak (30–79%) | In 1 aandoening |
| ATP5F1AATP synthase F1 subunit alpha | Vaak (30–79%) | In 1 aandoening |
| ATP5F1DATP synthase F1 subunit delta | Vaak (30–79%) | In 1 aandoening |
| ATP5F1EATP synthase F1 subunit epsilon | Vaak (30–79%) | In 1 aandoening |
| ATP5MKATP synthase membrane subunit k | Vaak (30–79%) | In 1 aandoening |
| ATP5POATP synthase peripheral stalk subunit OSCP | Vaak (30–79%) | In 1 aandoening |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Vaak (30–79%) | In 1 aandoening |
| BAG3BAG cochaperone 3 | Vaak (30–79%) | In 1 aandoening |
| BAG5BAG cochaperone 5 | Vaak (30–79%) | In 1 aandoening |
| BMP2bone morphogenetic protein 2 | Vaak (30–79%) | In 2 aandoeningen |
| CAP2cyclase associated actin cytoskeleton regulatory protein 2 | Vaak (30–79%) | In 1 aandoening |
| CASRcalcium sensing receptor | Vaak (30–79%) | In 1 aandoening |
| CBLCbl proto-oncogene | Vaak (30–79%) | In 1 aandoening |
| COX7Bcytochrome c oxidase subunit 7B | Vaak (30–79%) | In 2 aandoeningen |
| CPT2carnitine palmitoyltransferase 2 | Vaak (30–79%) | In 3 aandoeningen |
| CRYABcrystallin alpha B | Vaak (30–79%) | In 1 aandoening |
| CSRP3cysteine and glycine rich protein 3 | Vaak (30–79%) | In 1 aandoening |
| DESdesmin | Vaak (30–79%) | In 1 aandoening |
Toon nog 199 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| DMDdystrophin | Vaak (30–79%) | In 3 aandoeningen |
| DOLKdolichol kinase | Vaak (30–79%) | In 2 aandoeningen |
| DSG2desmoglein 2 | Vaak (30–79%) | In 1 aandoening |
| DSPdesmoplakin | Vaak (30–79%) | In 1 aandoening |
| FHL2four and a half LIM domains 2 | Vaak (30–79%) | In 1 aandoening |
| FKTNfukutin | Vaak (30–79%) | In 1 aandoening |
| FLNCfilamin C | Vaak (30–79%) | In 1 aandoening |
| GATAD1GATA zinc finger domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| GDAP1ganglioside induced differentiation associated protein 1 | Vaak (30–79%) | In 1 aandoening |
| GET3guided entry of tail-anchored proteins factor 3, ATPase | Vaak (30–79%) | In 1 aandoening |
| GNA11G protein subunit alpha 11 | Vaak (30–79%) | In 1 aandoening |
| GNB5G protein subunit beta 5 | Vaak (30–79%) | In 1 aandoening |
| GSNgelsolin | Vaak (30–79%) | In 1 aandoening |
| GYG1glycogenin 1 | Vaak (30–79%) | In 1 aandoening |
| HAND2heart and neural crest derivatives expressed 2 | Vaak (30–79%) | In 1 aandoening |
| HCCSholocytochrome c synthase | Vaak (30–79%) | In 2 aandoeningen |
| JPH2junctophilin 2 | Vaak (30–79%) | In 1 aandoening |
| KCNE1potassium voltage-gated channel subfamily E regulatory subunit 1 | Vaak (30–79%) | In 1 aandoening |
| KCNQ1potassium voltage-gated channel subfamily Q member 1 | Vaak (30–79%) | In 1 aandoening |
| KRASKRas proto-oncogene, GTPase | Vaak (30–79%) | In 1 aandoening |
| LAMA4laminin subunit alpha 4 | Vaak (30–79%) | In 1 aandoening |
| LDB3LIM domain binding 3 | Vaak (30–79%) | In 1 aandoening |
| LEMD2LEM domain nuclear envelope protein 2 | Vaak (30–79%) | In 1 aandoening |
| LMOD2leiomodin 2 | Vaak (30–79%) | In 1 aandoening |
| LZTR1leucine zipper like post translational regulator 1 | Vaak (30–79%) | In 1 aandoening |
| MRASmuscle RAS oncogene homolog | Vaak (30–79%) | In 1 aandoening |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Vaak (30–79%) | In 3 aandoeningen |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Vaak (30–79%) | In 1 aandoening |
| MYBPC3myosin binding protein C3 | Vaak (30–79%) | In 1 aandoening |
| MYH6myosin heavy chain 6 | Vaak (30–79%) | In 3 aandoeningen |
| MYH7myosin heavy chain 7 | Vaak (30–79%) | In 3 aandoeningen |
| MYPNmyopalladin | Vaak (30–79%) | In 1 aandoening |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Vaak (30–79%) | In 2 aandoeningen |
| NEXNnexilin F-actin binding protein | Vaak (30–79%) | In 1 aandoening |
| NPPAnatriuretic peptide A | Vaak (30–79%) | In 1 aandoening |
| NRAPnebulin related anchoring protein | Vaak (30–79%) | In 1 aandoening |
| NRASNRAS proto-oncogene, GTPase | Vaak (30–79%) | In 1 aandoening |
| PCCApropionyl-CoA carboxylase subunit alpha | Vaak (30–79%) | In 1 aandoening |
| PCCBpropionyl-CoA carboxylase subunit beta | Vaak (30–79%) | In 1 aandoening |
| PEX1peroxisomal biogenesis factor 1 | Vaak (30–79%) | In 2 aandoeningen |
| PEX6peroxisomal biogenesis factor 6 | Vaak (30–79%) | In 2 aandoeningen |
| PLNphospholamban | Vaak (30–79%) | In 1 aandoening |
| PNPLA2patatin like domain 2, triacylglycerol lipase | Vaak (30–79%) | In 1 aandoening |
| PPCSphosphopantothenoylcysteine synthetase | Vaak (30–79%) | In 1 aandoening |
| PRDM16PR/SET domain 16 | Vaak (30–79%) | In 2 aandoeningen |
| PSEN1presenilin 1 | Vaak (30–79%) | In 1 aandoening |
| PSEN2presenilin 2 | Vaak (30–79%) | In 1 aandoening |
| PSMB8proteasome 20S subunit beta 8 | Vaak (30–79%) | In 1 aandoening |
| RASA2RAS p21 protein activator 2 | Vaak (30–79%) | In 1 aandoening |
| RBM20RNA binding motif protein 20 | Vaak (30–79%) | In 1 aandoening |
| RIT1Ras like without CAAX 1 | Vaak (30–79%) | In 1 aandoening |
| RPL3Lribosomal protein L3 like | Vaak (30–79%) | In 1 aandoening |
| RRASRAS related | Vaak (30–79%) | In 1 aandoening |
| RRAS2RAS related 2 | Vaak (30–79%) | In 1 aandoening |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Vaak (30–79%) | In 1 aandoening |
| SCN5Asodium voltage-gated channel alpha subunit 5 | Vaak (30–79%) | In 3 aandoeningen |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Vaak (30–79%) | In 2 aandoeningen |
| SGCDsarcoglycan delta | Vaak (30–79%) | In 1 aandoening |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Vaak (30–79%) | In 1 aandoening |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Vaak (30–79%) | In 1 aandoening |
| SPRED2sprouty related EVH1 domain containing 2 | Vaak (30–79%) | In 1 aandoening |
| TAF1ATATA-box binding protein associated factor, RNA polymerase I subunit A | Vaak (30–79%) | In 1 aandoening |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Vaak (30–79%) | In 3 aandoeningen |
| TANGO2transport and golgi organization 2 homolog | Vaak (30–79%) | In 1 aandoening |
| TCAPtitin-cap | Vaak (30–79%) | In 1 aandoening |
| TMPOthymopoietin | Vaak (30–79%) | In 1 aandoening |
| TNNC1troponin C1, slow skeletal and cardiac type | Vaak (30–79%) | In 1 aandoening |
| TNNI3troponin I3, cardiac type | Vaak (30–79%) | In 1 aandoening |
| TNNT2troponin T2, cardiac type | Vaak (30–79%) | In 1 aandoening |
| TPM1tropomyosin 1 | Vaak (30–79%) | In 1 aandoening |
| TRPM4transient receptor potential cation channel subfamily M member 4 | Vaak (30–79%) | In 2 aandoeningen |
| TTRtransthyretin | Vaak (30–79%) | In 2 aandoeningen |
| TXNRD2thioredoxin reductase 2 | Vaak (30–79%) | In 1 aandoening |
| VCLvinculin | Vaak (30–79%) | In 1 aandoening |
| VEZF1vascular endothelial zinc finger 1 | Vaak (30–79%) | In 1 aandoening |
| WASWASP actin nucleation promoting factor | Vaak (30–79%) | In 1 aandoening |
| ACADMacyl-CoA dehydrogenase medium chain | Soms (5–29%) | In 1 aandoening |
| AIPAHR interacting HSP90 co-chaperone | Soms (5–29%) | In 1 aandoening |
| ALDOAaldolase, fructose-bisphosphate A | Soms (5–29%) | In 1 aandoening |
| ASLargininosuccinate lyase | Soms (5–29%) | In 1 aandoening |
| BTNL2butyrophilin like 2 | Soms (5–29%) | In 1 aandoening |
| CACNA1Scalcium voltage-gated channel subunit alpha1 S | Soms (5–29%) | In 1 aandoening |
| CCND1cyclin D1 | Soms (5–29%) | In 1 aandoening |
| CITED2Cbp/p300 interacting transactivator with ED-rich tail 2 | Soms (5–29%) | In 1 aandoening |
| COL4A1collagen type IV alpha 1 chain | Soms (5–29%) | In 1 aandoening |
| CPT1Acarnitine palmitoyltransferase 1A | Soms (5–29%) | In 2 aandoeningen |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Soms (5–29%) | In 1 aandoening |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Soms (5–29%) | In 1 aandoening |
| FBXL4F-box and leucine rich repeat protein 4 | Soms (5–29%) | In 1 aandoening |
| FHL1four and a half LIM domains 1 | Soms (5–29%) | In 1 aandoening |
| FOXC2forkhead box C2 | Soms (5–29%) | In 2 aandoeningen |
| GATA4GATA binding protein 4 | Soms (5–29%) | In 1 aandoening |
| GATA6GATA binding protein 6 | Soms (5–29%) | In 1 aandoening |
| GJA1gap junction protein alpha 1 | Soms (5–29%) | In 2 aandoeningen |
| GLAgalactosidase alpha | Soms (5–29%) | In 2 aandoeningen |
| GNAQG protein subunit alpha q | Soms (5–29%) | In 1 aandoening |
| GPR101G protein-coupled receptor 101 | Soms (5–29%) | In 1 aandoening |
| GTPBP3GTP binding protein 3, mitochondrial | Soms (5–29%) | In 1 aandoening |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Soms (5–29%) | In 2 aandoeningen |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Soms (5–29%) | In 1 aandoening |
| HDAC4histone deacetylase 4 | Soms (5–29%) | In 1 aandoening |
| HLA-Bmajor histocompatibility complex, class I, B | Soms (5–29%) | In 2 aandoeningen |
| HLA-DPA1major histocompatibility complex, class II, DP alpha 1 | Soms (5–29%) | In 1 aandoening |
| HLA-DPB1major histocompatibility complex, class II, DP beta 1 | Soms (5–29%) | In 1 aandoening |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Soms (5–29%) | In 2 aandoeningen |
| HSPG2heparan sulfate proteoglycan 2 | Soms (5–29%) | In 1 aandoening |
| KCNE3potassium voltage-gated channel subfamily E regulatory subunit 3 | Soms (5–29%) | In 1 aandoening |
| LAMA2laminin subunit alpha 2 | Soms (5–29%) | In 1 aandoening |
| LPIN1lipin 1 | Soms (5–29%) | In 1 aandoening |
| MEFVMEFV innate immunity regulator, pyrin | Soms (5–29%) | In 1 aandoening |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Soms (5–29%) | In 1 aandoening |
| MGME1mitochondrial genome maintenance exonuclease 1 | Soms (5–29%) | In 2 aandoeningen |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Soms (5–29%) | In 3 aandoeningen |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Soms (5–29%) | In 4 aandoeningen |
| MT-CYBmitochondrially encoded cytochrome b | Soms (5–29%) | In 3 aandoeningen |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Soms (5–29%) | In 3 aandoeningen |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Soms (5–29%) | In 2 aandoeningen |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Soms (5–29%) | In 2 aandoeningen |
| MT-ND4Lmitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L | Soms (5–29%) | In 2 aandoeningen |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Soms (5–29%) | In 3 aandoeningen |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Soms (5–29%) | In 3 aandoeningen |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Soms (5–29%) | In 2 aandoeningen |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Soms (5–29%) | In 1 aandoening |
| OBSCNobscurin, cytoskeletal calmodulin and titin-interacting RhoGEF | Soms (5–29%) | In 1 aandoening |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Soms (5–29%) | In 1 aandoening |
| PEX10peroxisomal biogenesis factor 10 | Soms (5–29%) | In 1 aandoening |
| PEX11Bperoxisomal biogenesis factor 11 beta | Soms (5–29%) | In 1 aandoening |
| PEX12peroxisomal biogenesis factor 12 | Soms (5–29%) | In 1 aandoening |
| PEX13peroxisomal biogenesis factor 13 | Soms (5–29%) | In 1 aandoening |
| PEX14peroxisomal biogenesis factor 14 | Soms (5–29%) | In 1 aandoening |
| PEX16peroxisomal biogenesis factor 16 | Soms (5–29%) | In 1 aandoening |
| PEX19peroxisomal biogenesis factor 19 | Soms (5–29%) | In 1 aandoening |
| PEX2peroxisomal biogenesis factor 2 | Soms (5–29%) | In 1 aandoening |
| PEX26peroxisomal biogenesis factor 26 | Soms (5–29%) | In 1 aandoening |
| PEX3peroxisomal biogenesis factor 3 | Soms (5–29%) | In 1 aandoening |
| PEX5peroxisomal biogenesis factor 5 | Soms (5–29%) | In 1 aandoening |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Soms (5–29%) | In 1 aandoening |
| POLGDNA polymerase gamma, catalytic subunit | Soms (5–29%) | In 1 aandoening |
| POLG2DNA polymerase gamma 2, accessory subunit | Soms (5–29%) | In 2 aandoeningen |
| PRTN3proteinase 3 | Soms (5–29%) | In 1 aandoening |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Soms (5–29%) | In 2 aandoeningen |
| RAI1retinoic acid induced 1 | Soms (5–29%) | In 1 aandoening |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Soms (5–29%) | In 1 aandoening |
| SALL4spalt like transcription factor 4 | Soms (5–29%) | In 1 aandoening |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Soms (5–29%) | In 2 aandoeningen |
| SCUBE3signal peptide, CUB domain and EGF like domain containing 3 | Soms (5–29%) | In 1 aandoening |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Soms (5–29%) | In 1 aandoening |
| SDHCsuccinate dehydrogenase complex subunit C | Soms (5–29%) | In 1 aandoening |
| SLC25A4solute carrier family 25 member 4 | Soms (5–29%) | In 1 aandoening |
| SLC40A1solute carrier family 40 member 1 | Soms (5–29%) | In 1 aandoening |
| SOX10SRY-box transcription factor 10 | Soms (5–29%) | In 1 aandoening |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Soms (5–29%) | In 1 aandoening |
| TBX20T-box transcription factor 20 | Soms (5–29%) | In 1 aandoening |
| TBX3T-box transcription factor 3 | Soms (5–29%) | In 2 aandoeningen |
| TLL1tolloid like 1 | Soms (5–29%) | In 1 aandoening |
| TMEM70transmembrane protein 70 | Soms (5–29%) | In 2 aandoeningen |
| TTPAalpha tocopherol transfer protein | Soms (5–29%) | In 1 aandoening |
| TWNKtwinkle mtDNA helicase | Soms (5–29%) | In 2 aandoeningen |
| VHLvon Hippel-Lindau tumor suppressor | Soms (5–29%) | In 1 aandoening |
| ACADVLacyl-CoA dehydrogenase very long chain | Zelden (1–4%) | In 1 aandoening |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Zelden (1–4%) | In 1 aandoening |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Zelden (1–4%) | In 1 aandoening |
| BMP6bone morphogenetic protein 6 | Zelden (1–4%) | In 1 aandoening |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Zelden (1–4%) | In 1 aandoening |
| CLCN1chloride voltage-gated channel 1 | Zelden (1–4%) | In 1 aandoening |
| HBBhemoglobin subunit beta | Zelden (1–4%) | In 2 aandoeningen |
| HFEhomeostatic iron regulator | Zelden (1–4%) | In 2 aandoeningen |
| HRASHRas proto-oncogene, GTPase | Zelden (1–4%) | In 2 aandoeningen |
| IVDisovaleryl-CoA dehydrogenase | Zelden (1–4%) | In 1 aandoening |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Zelden (1–4%) | In 2 aandoeningen |
| RHOBTB2Rho related BTB domain containing 2 | Zelden (1–4%) | In 1 aandoening |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Zelden (1–4%) | In 1 aandoening |
| SLC1A3solute carrier family 1 member 3 | Zelden (1–4%) | In 1 aandoening |
| SLC2A1solute carrier family 2 member 1 | Zelden (1–4%) | In 1 aandoening |
| CAV3caveolin 3 | Niet vastgelegd | In 1 aandoening |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Niet vastgelegd | In 1 aandoening |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Niet vastgelegd | In 1 aandoening |
| ETFAelectron transfer flavoprotein subunit alpha | Niet vastgelegd | In 1 aandoening |
| ETFBelectron transfer flavoprotein subunit beta | Niet vastgelegd | In 1 aandoening |
| ETFDHelectron transfer flavoprotein dehydrogenase | Niet vastgelegd | In 1 aandoening |
| GPC3glypican 3 | Niet vastgelegd | In 1 aandoening |
| HJVhemojuvelin BMP co-receptor | Niet vastgelegd | In 1 aandoening |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Niet vastgelegd | In 1 aandoening |
| MT-TCmitochondrially encoded tRNA-Cys (UGU/C) | Niet vastgelegd | In 1 aandoening |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Niet vastgelegd | In 1 aandoening |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Niet vastgelegd | In 1 aandoening |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Niet vastgelegd | In 1 aandoening |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Niet vastgelegd | In 1 aandoening |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Niet vastgelegd | In 1 aandoening |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Niet vastgelegd | In 1 aandoening |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Niet vastgelegd | In 1 aandoening |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Niet vastgelegd | In 1 aandoening |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Niet vastgelegd | In 1 aandoening |
| PEX7peroxisomal biogenesis factor 7 | Niet vastgelegd | In 1 aandoening |
| PHYHphytanoyl-CoA 2-hydroxylase | Niet vastgelegd | In 1 aandoening |
| SLC19A2solute carrier family 19 member 2 | Niet vastgelegd | In 1 aandoening |
| SYNE2spectrin repeat containing nuclear envelope protein 2 | Niet vastgelegd | In 1 aandoening |
| TDP2tyrosyl-DNA phosphodiesterase 2 | Niet vastgelegd | In 1 aandoening |
| WIPI2WD repeat domain, phosphoinositide interacting 2 | Niet vastgelegd | In 1 aandoening |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
Smallere kenmerken
Bredere kenmerken
Waar dit vandaan komt
- De Human Phenotype Ontology, release 2026-09-01: het kenmerk, de namen, de definitie en de genen die ermee verbonden zijn. Meer informatie vindt u op hpo.jax.org.
- Gegevensrelease 2026.10.16-c6eea6bf.
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