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Træk
Elevated blood creatine phosphokinase
Klinisk navn: Elevated circulating creatine kinase activity
The activity of creatine kinase in the blood circulation is above the upper limit of normal.
Resumé
- Også kaldet
- Elevated circulating creatine phosphokinase, Elevated creatine kinase, Elevated serum CPK, Elevated serum creatine kinase, Elevated serum creatine phosphokinase, High serum creatine kinase, Increased CPK, Increased creatine kinase, Increased creatine phosphokinase, Increased serum CK, Increased serum creatine kinase, Increased serum creatine phosphokinase, Elevated creatine kinase concentration, Elevated creatine kinase level, Elevated creatine kinase level in blood, Increased creatine kinase concentration, Increased creatine kinase level, Increased creatine kinase level in blood
- Kropssystem
- Laboratory abnormality
Elevated blood creatine phosphokinaseHP:0003236
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Read the genes linked to Elevated blood creatine phosphokinase, and the rest of your genome, with one test.
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Bestil min Genome Test286 gener knyttet til Elevated blood creatine phosphokinase
Ændringer i disse gener forårsager sjældne tilstande, hvor Elevated blood creatine phosphokinase ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ADRA2Aadrenoceptor alpha 2A | Altid | I 1 tilstand |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Altid | I 1 tilstand |
| ALDOAaldolase, fructose-bisphosphate A | Altid | I 1 tilstand |
| ANO5anoctamin 5 | Altid | I 4 tilstande |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Altid | I 2 tilstande |
| B4GALT1beta-1,4-galactosyltransferase 1 | Altid | I 2 tilstande |
| BAG3BAG cochaperone 3 | Altid | I 3 tilstande |
| CAPN3calpain 3 | Altid | I 3 tilstande |
| CAV3caveolin 3 | Altid | I 4 tilstande |
| CAVIN1caveolae associated protein 1 | Altid | I 1 tilstand |
| CHKBcholine kinase beta | Altid | I 1 tilstand |
| COG7component of oligomeric golgi complex 7 | Altid | I 2 tilstande |
| COG8component of oligomeric golgi complex 8 | Altid | I 1 tilstand |
| COL4A1collagen type IV alpha 1 chain | Altid | I 3 tilstande |
| COL6A2collagen type VI alpha 2 chain | Altid | I 5 tilstande |
| CPT2carnitine palmitoyltransferase 2 | Altid | I 5 tilstande |
| CRPPACDP-L-ribitol pyrophosphorylase A | Altid | I 3 tilstande |
| CRYABcrystallin alpha B | Altid | I 2 tilstande |
| DAG1dystroglycan 1 | Altid | I 5 tilstande |
| DMDdystrophin | Altid | I 5 tilstande |
| DPM3dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Altid | I 1 tilstand |
| DPYSdihydropyrimidinase | Altid | I 1 tilstand |
| DTNAdystrobrevin alpha | Altid | I 1 tilstand |
| DYSFdysferlin | Altid | I 4 tilstande |
| EMDemerin | Altid | I 2 tilstande |
| EPG5ectopic P-granules 5 autophagy tethering factor | Altid | I 2 tilstande |
| FAM111BFAM111 trypsin like peptidase B | Altid | I 1 tilstand |
| FHL1four and a half LIM domains 1 | Altid | I 6 tilstande |
| FKRPfukutin related protein | Altid | I 8 tilstande |
| FKTNfukutin | Altid | I 6 tilstande |
| FLVCR1FLVCR choline and heme transporter 1 | Altid | I 1 tilstand |
| GAAalpha glucosidase | Altid | I 3 tilstande |
| GGPS1geranylgeranyl diphosphate synthase 1 | Altid | I 1 tilstand |
| GMPPBGDP-mannose pyrophosphorylase B | Altid | I 8 tilstande |
| GOLGA2golgin A2 | Altid | I 1 tilstand |
| GOSR2golgi SNAP receptor complex member 2 | Altid | I 2 tilstande |
| GUK1guanylate kinase 1 | Altid | I 1 tilstand |
| HHAThedgehog acyltransferase | Altid | I 1 tilstand |
| HMGCR3-hydroxy-3-methylglutaryl-CoA reductase | Altid | I 1 tilstand |
| HMGCS13-hydroxy-3-methylglutaryl-CoA synthase 1 | Altid | I 1 tilstand |
Vis 246 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Altid | I 2 tilstande |
| INPP5Kinositol polyphosphate-5-phosphatase K | Altid | I 1 tilstand |
| ISCUiron-sulfur cluster assembly enzyme | Altid | I 1 tilstand |
| KYkyphoscoliosis peptidase | Altid | I 1 tilstand |
| LAMA2laminin subunit alpha 2 | Altid | I 2 tilstande |
| LAMP2lysosome associated membrane protein 2 | Altid | I 2 tilstande |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Altid | I 5 tilstande |
| LMNAlamin A/C | Altid | I 5 tilstande |
| LPIN1lipin 1 | Altid | I 1 tilstand |
| MBmyoglobin | Altid | I 1 tilstand |
| MEGF10multiple EGF like domains 10 | Altid | I 1 tilstand |
| MICU1mitochondrial calcium uptake 1 | Altid | I 1 tilstand |
| MIEF2mitochondrial elongation factor 2 | Altid | I 1 tilstand |
| MLIPmuscular LMNA interacting protein | Altid | I 1 tilstand |
| MVKmevalonate kinase | Altid | I 1 tilstand |
| MYH7myosin heavy chain 7 | Altid | I 2 tilstande |
| MYOTmyotilin | Altid | I 2 tilstande |
| NFS1NFS1 cysteine desulfurase | Altid | I 1 tilstand |
| OBSCNobscurin, cytoskeletal calmodulin and titin-interacting RhoGEF | Altid | I 1 tilstand |
| PACSIN3protein kinase C and casein kinase substrate in neurons 3 | Altid | I 1 tilstand |
| PANK2pantothenate kinase 2 | Altid | I 1 tilstand |
| PET100PET100 cytochrome c oxidase chaperone | Altid | I 1 tilstand |
| PFKMphosphofructokinase, muscle | Altid | I 1 tilstand |
| PHKA1phosphorylase kinase regulatory subunit alpha 1 | Altid | I 2 tilstande |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Altid | I 1 tilstand |
| POLG2DNA polymerase gamma 2, accessory subunit | Altid | I 2 tilstande |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Altid | I 5 tilstande |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Altid | I 1 tilstand |
| POMKprotein O-mannose kinase | Altid | I 3 tilstande |
| POMT1protein O-mannosyltransferase 1 | Altid | I 7 tilstande |
| POMT2protein O-mannosyltransferase 2 | Altid | I 8 tilstande |
| PSMB9proteasome 20S subunit beta 9 | Altid | I 1 tilstand |
| RFC4replication factor C subunit 4 | Altid | I 1 tilstand |
| RTN2reticulon 2 | Altid | I 1 tilstand |
| SGCAsarcoglycan alpha | Altid | I 2 tilstande |
| SGCBsarcoglycan beta | Altid | I 2 tilstande |
| SGCDsarcoglycan delta | Altid | I 1 tilstand |
| SLC16A1solute carrier family 16 member 1 | Altid | I 1 tilstand |
| SLC25A4solute carrier family 25 member 4 | Altid | I 2 tilstande |
| SQORsulfide quinone oxidoreductase | Altid | I 1 tilstand |
| STIM1stromal interaction molecule 1 | Altid | I 2 tilstande |
| SUOXsulfite oxidase | Altid | I 1 tilstand |
| SVILsupervillin | Altid | I 1 tilstand |
| SYNE2spectrin repeat containing nuclear envelope protein 2 | Altid | I 2 tilstande |
| SYNJ1synaptojanin 1 | Altid | I 1 tilstand |
| TAMM41TAM41 mitochondrial translocator assembly and maintenance homolog | Altid | I 1 tilstand |
| TANGO2transport and golgi organization 2 homolog | Altid | I 2 tilstande |
| TIMM22translocase of inner mitochondrial membrane 22 | Altid | I 1 tilstand |
| TK2thymidine kinase 2 | Altid | I 3 tilstande |
| TMEM165transmembrane protein 165 | Altid | I 1 tilstand |
| TNNT1troponin T1, slow skeletal type | Altid | I 1 tilstand |
| TOP3ADNA topoisomerase III alpha | Altid | I 2 tilstande |
| TRAPPC11trafficking protein particle complex subunit 11 | Altid | I 1 tilstand |
| TTNtitin | Altid | I 4 tilstande |
| TUBA4Atubulin alpha 4a | Altid | I 2 tilstande |
| UBA1ubiquitin like modifier activating enzyme 1 | Altid | I 1 tilstand |
| UQCRFS1ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 | Altid | I 1 tilstand |
| VMA12vacuolar ATPase assembly factor VMA12 | Altid | I 1 tilstand |
| XKX-linked Kx blood group antigen, Kell and VPS13A binding protein | Altid | I 1 tilstand |
| ACTA1actin alpha 1, skeletal muscle | Meget ofte (80–99 %) | I 2 tilstande |
| ADSS1adenylosuccinate synthase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| ANXA11annexin A11 | Meget ofte (80–99 %) | I 1 tilstand |
| CASQ1calsequestrin 1 | Meget ofte (80–99 %) | I 2 tilstande |
| COL12A1collagen type XII alpha 1 chain | Meget ofte (80–99 %) | I 3 tilstande |
| COL6A1collagen type VI alpha 1 chain | Meget ofte (80–99 %) | I 3 tilstande |
| COL6A3collagen type VI alpha 3 chain | Meget ofte (80–99 %) | I 3 tilstande |
| DMGDHdimethylglycine dehydrogenase | Meget ofte (80–99 %) | I 2 tilstande |
| DNMT3BDNA methyltransferase 3 beta | Meget ofte (80–99 %) | I 1 tilstand |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Meget ofte (80–99 %) | I 2 tilstande |
| DUX4double homeobox 4 | Meget ofte (80–99 %) | I 1 tilstand |
| DUX4L1double homeobox 4 like 1 (pseudogene) | Meget ofte (80–99 %) | I 1 tilstand |
| FRG1FSHD region gene 1 | Meget ofte (80–99 %) | I 2 tilstande |
| GIPC1GIPC PDZ domain containing family member 1 | Meget ofte (80–99 %) | I 1 tilstand |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Meget ofte (80–99 %) | I 1 tilstand |
| HINT1histidine triad nucleotide binding protein 1 | Meget ofte (80–99 %) | I 2 tilstande |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Meget ofte (80–99 %) | I 2 tilstande |
| HSPB8heat shock protein family B (small) member 8 | Meget ofte (80–99 %) | I 1 tilstand |
| HSPG2heparan sulfate proteoglycan 2 | Meget ofte (80–99 %) | I 2 tilstande |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Meget ofte (80–99 %) | I 2 tilstande |
| LIPElipase E, hormone sensitive type | Meget ofte (80–99 %) | I 2 tilstande |
| LTBP4latent transforming growth factor beta binding protein 4 | Meget ofte (80–99 %) | I 1 tilstand |
| ORAI1ORAI calcium release-activated calcium modulator 1 | Meget ofte (80–99 %) | I 1 tilstand |
| PYGMglycogen phosphorylase, muscle associated | Meget ofte (80–99 %) | I 2 tilstande |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Meget ofte (80–99 %) | I 2 tilstande |
| SIL1SIL1 nucleotide exchange factor | Meget ofte (80–99 %) | I 1 tilstand |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Meget ofte (80–99 %) | I 2 tilstande |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Meget ofte (80–99 %) | I 2 tilstande |
| TMEM43transmembrane protein 43 | Meget ofte (80–99 %) | I 1 tilstand |
| TRIM32tripartite motif containing 32 | Meget ofte (80–99 %) | I 2 tilstande |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| VCPvalosin containing protein | Meget ofte (80–99 %) | I 4 tilstande |
| ADKadenosine kinase | Ofte (30–79 %) | I 1 tilstand |
| AHCYadenosylhomocysteinase | Ofte (30–79 %) | I 1 tilstand |
| AP5Z1adaptor related protein complex 5 subunit zeta 1 | Ofte (30–79 %) | I 1 tilstand |
| APTXaprataxin | Ofte (30–79 %) | I 2 tilstande |
| ATP2A2ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 | Ofte (30–79 %) | I 1 tilstand |
| ATP5F1DATP synthase F1 subunit delta | Ofte (30–79 %) | I 1 tilstand |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Ofte (30–79 %) | I 1 tilstand |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Ofte (30–79 %) | I 1 tilstand |
| CA2carbonic anhydrase 2 | Ofte (30–79 %) | I 1 tilstand |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Ofte (30–79 %) | I 3 tilstande |
| CLIP2CAP-Gly domain containing linker protein 2 | Ofte (30–79 %) | I 1 tilstand |
| COG6component of oligomeric golgi complex 6 | Ofte (30–79 %) | I 1 tilstand |
| COX16cytochrome c oxidase assembly factor COX16 | Ofte (30–79 %) | I 1 tilstand |
| DNAJB4DnaJ heat shock protein family (Hsp40) member B4 | Ofte (30–79 %) | I 1 tilstand |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Ofte (30–79 %) | I 1 tilstand |
| DNM2dynamin 2 | Ofte (30–79 %) | I 2 tilstande |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Ofte (30–79 %) | I 2 tilstande |
| EIF4Heukaryotic translation initiation factor 4H | Ofte (30–79 %) | I 1 tilstand |
| ELNelastin | Ofte (30–79 %) | I 1 tilstand |
| FKBP14FKBP prolyl isomerase 14 | Ofte (30–79 %) | I 1 tilstand |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Ofte (30–79 %) | I 1 tilstand |
| GATBglutamyl-tRNA amidotransferase subunit B | Ofte (30–79 %) | I 1 tilstand |
| GATCglutamyl-tRNA amidotransferase subunit C | Ofte (30–79 %) | I 1 tilstand |
| GTF2Igeneral transcription factor IIi | Ofte (30–79 %) | I 1 tilstand |
| GTF2IRD1GTF2I repeat domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| GTF2IRD2GTF2I repeat domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Ofte (30–79 %) | I 1 tilstand |
| INF2inverted formin 2 | Ofte (30–79 %) | I 1 tilstand |
| ISCA1iron-sulfur cluster assembly 1 | Ofte (30–79 %) | I 2 tilstande |
| ITGA7integrin subunit alpha 7 | Ofte (30–79 %) | I 1 tilstand |
| ITGB4integrin subunit beta 4 | Ofte (30–79 %) | I 1 tilstand |
| JAG2jagged canonical Notch ligand 2 | Ofte (30–79 %) | I 1 tilstand |
| LIMK1LIM domain kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| MATR3matrin 3 | Ofte (30–79 %) | I 1 tilstand |
| METTL27methyltransferase like 27 | Ofte (30–79 %) | I 1 tilstand |
| MFN2mitofusin 2 | Ofte (30–79 %) | I 1 tilstand |
| MGME1mitochondrial genome maintenance exonuclease 1 | Ofte (30–79 %) | I 2 tilstande |
| MPZmyelin protein zero | Ofte (30–79 %) | I 1 tilstand |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Ofte (30–79 %) | I 1 tilstand |
| MTMR14myotubularin related protein 14 | Ofte (30–79 %) | I 1 tilstand |
| MYL2myosin light chain 2 | Ofte (30–79 %) | I 1 tilstand |
| MYMKmyomaker, myoblast fusion factor | Ofte (30–79 %) | I 1 tilstand |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| NAXDNAD(P)HX dehydratase | Ofte (30–79 %) | I 1 tilstand |
| NCF1neutrophil cytosolic factor 1 | Ofte (30–79 %) | I 1 tilstand |
| NEFHneurofilament heavy chain | Ofte (30–79 %) | I 1 tilstand |
| NOTCH2NLCnotch 2 N-terminal like C | Ofte (30–79 %) | I 1 tilstand |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Ofte (30–79 %) | I 1 tilstand |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Ofte (30–79 %) | I 2 tilstande |
| PDK3pyruvate dehydrogenase kinase 3 | Ofte (30–79 %) | I 1 tilstand |
| PGAM2phosphoglycerate mutase 2 | Ofte (30–79 %) | I 2 tilstande |
| PGM1phosphoglucomutase 1 | Ofte (30–79 %) | I 1 tilstand |
| PHKG1phosphorylase kinase catalytic subunit gamma 1 | Ofte (30–79 %) | I 1 tilstand |
| PLA2G6phospholipase A2 group VI | Ofte (30–79 %) | I 1 tilstand |
| PLECplectin | Ofte (30–79 %) | I 3 tilstande |
| PNPLA2patatin like domain 2, triacylglycerol lipase | Ofte (30–79 %) | I 2 tilstande |
| POPDC1popeye domain cAMP effector 1 | Ofte (30–79 %) | I 1 tilstand |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Ofte (30–79 %) | I 1 tilstand |
| QRSL1glutaminyl-tRNA amidotransferase subunit QRSL1 | Ofte (30–79 %) | I 1 tilstand |
| RFC2replication factor C subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| RILPL1Rab interacting lysosomal protein like 1 | Ofte (30–79 %) | I 1 tilstand |
| RYR1ryanodine receptor 1 | Ofte (30–79 %) | I 5 tilstande |
| SGCGsarcoglycan gamma | Ofte (30–79 %) | I 2 tilstande |
| STX1Asyntaxin 1A | Ofte (30–79 %) | I 1 tilstand |
| TBCDtubulin folding cofactor D | Ofte (30–79 %) | I 2 tilstande |
| TBL2transducin beta like 2 | Ofte (30–79 %) | I 1 tilstand |
| TFGtrafficking from ER to golgi regulator | Ofte (30–79 %) | I 1 tilstand |
| TMEM270transmembrane protein 270 | Ofte (30–79 %) | I 1 tilstand |
| TOR1AIP1torsin 1A interacting protein 1 | Ofte (30–79 %) | I 1 tilstand |
| TPM2tropomyosin 2 | Ofte (30–79 %) | I 2 tilstande |
| TRAPPC2Ltrafficking protein particle complex subunit 2L | Ofte (30–79 %) | I 1 tilstand |
| TSFMTs translation elongation factor, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| VAC14VAC14 component of PIKFYVE complex | Ofte (30–79 %) | I 1 tilstand |
| VPS13Avacuolar protein sorting 13 homolog A | Ofte (30–79 %) | I 2 tilstande |
| VPS37DVPS37D subunit of ESCRT-I | Ofte (30–79 %) | I 1 tilstand |
| ACADMacyl-CoA dehydrogenase medium chain | Nogle gange (5–29 %) | I 1 tilstand |
| ACADVLacyl-CoA dehydrogenase very long chain | Nogle gange (5–29 %) | I 2 tilstande |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Nogle gange (5–29 %) | I 1 tilstand |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| AMACRalpha-methylacyl-CoA racemase | Nogle gange (5–29 %) | I 1 tilstand |
| BICD2BICD cargo adaptor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| C1QBPcomplement C1q binding protein | Nogle gange (5–29 %) | I 1 tilstand |
| CACNA1Scalcium voltage-gated channel subunit alpha1 S | Nogle gange (5–29 %) | I 1 tilstand |
| CFL2cofilin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| COQ4coenzyme Q4 | Nogle gange (5–29 %) | I 1 tilstand |
| DHX16DEAH-box helicase 16 | Nogle gange (5–29 %) | I 1 tilstand |
| DNA2DNA replication helicase/nuclease 2 | Nogle gange (5–29 %) | I 1 tilstand |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FBXO22F-box protein 22 | Nogle gange (5–29 %) | I 1 tilstand |
| FLAD1flavin adenine dinucleotide synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GYG1glycogenin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HEXBhexosaminidase subunit beta | Nogle gange (5–29 %) | I 1 tilstand |
| KLHL41kelch like family member 41 | Nogle gange (5–29 %) | I 1 tilstand |
| LAMA1laminin subunit alpha 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LMOD3leiomodin 3 | Nogle gange (5–29 %) | I 1 tilstand |
| LRP12LDL receptor related protein 12 | Nogle gange (5–29 %) | I 1 tilstand |
| MPDU1mannose-P-dolichol utilization defect 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NEBnebulin | Nogle gange (5–29 %) | I 1 tilstand |
| OTUD5OTU deubiquitinase 5 | Nogle gange (5–29 %) | I 1 tilstand |
| PABPN1poly(A) binding protein nuclear 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PHKBphosphorylase kinase regulatory subunit beta | Nogle gange (5–29 %) | I 1 tilstand |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PIK3R5phosphoinositide-3-kinase regulatory subunit 5 | Nogle gange (5–29 %) | I 1 tilstand |
| PITRM1pitrilysin metallopeptidase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PLXNA1plexin A1 | Nogle gange (5–29 %) | I 1 tilstand |
| POGLUT1protein O-glucosyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| POLGDNA polymerase gamma, catalytic subunit | Nogle gange (5–29 %) | I 2 tilstande |
| POLRMTRNA polymerase mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| PRUNE1prune exopolyphosphatase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RNASEH1ribonuclease H1 | Nogle gange (5–29 %) | I 1 tilstand |
| RRM1ribonucleotide reductase catalytic subunit M1 | Nogle gange (5–29 %) | I 2 tilstande |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Nogle gange (5–29 %) | I 1 tilstand |
| SETXsenataxin | Nogle gange (5–29 %) | I 2 tilstande |
| SLC22A5solute carrier family 22 member 5 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC39A14solute carrier family 39 member 14 | Nogle gange (5–29 %) | I 1 tilstand |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Nogle gange (5–29 %) | I 1 tilstand |
| TWNKtwinkle mtDNA helicase | Nogle gange (5–29 %) | I 2 tilstande |
| VAPBVAMP associated protein B and C | Nogle gange (5–29 %) | I 1 tilstand |
| VMA22vacuolar ATPase assembly factor VMA22 | Nogle gange (5–29 %) | I 1 tilstand |
| FDX2ferredoxin 2 | Sjældent (1–4%) | I 1 tilstand |
| ABCD3ATP binding cassette subfamily D member 3 | Ikke registreret | I 1 tilstand |
| ACTN2actinin alpha 2 | Ikke registreret | I 1 tilstand |
| AGLamylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase | Ikke registreret | I 1 tilstand |
| ARandrogen receptor | Ikke registreret | I 1 tilstand |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Ikke registreret | I 1 tilstand |
| C19orf12chromosome 19 open reading frame 12 | Ikke registreret | I 1 tilstand |
| CNBPCCHC-type zinc finger nucleic acid binding protein | Ikke registreret | I 1 tilstand |
| COA7cytochrome c oxidase assembly factor 7 | Ikke registreret | I 1 tilstand |
| COL9A3collagen type IX alpha 3 chain | Ikke registreret | I 1 tilstand |
| COQ2coenzyme Q2, polyprenyltransferase | Ikke registreret | I 1 tilstand |
| COX20cytochrome c oxidase assembly factor COX20 | Ikke registreret | I 1 tilstand |
| CPT1Acarnitine palmitoyltransferase 1A | Ikke registreret | I 1 tilstand |
| DGUOKdeoxyguanosine kinase | Ikke registreret | I 1 tilstand |
| DNAJB6DnaJ heat shock protein family (Hsp40) member B6 | Ikke registreret | I 1 tilstand |
| ENO3enolase 3 | Ikke registreret | I 1 tilstand |
| FLNCfilamin C | Ikke registreret | I 1 tilstand |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Ikke registreret | I 1 tilstand |
| HNRNPDLheterogeneous nuclear ribonucleoprotein D like | Ikke registreret | I 1 tilstand |
| LDB3LIM domain binding 3 | Ikke registreret | I 1 tilstand |
| LDHAlactate dehydrogenase A | Ikke registreret | I 1 tilstand |
| LIMS2LIM zinc finger domain containing 2 | Ikke registreret | I 1 tilstand |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Ikke registreret | I 1 tilstand |
| NEFLneurofilament light chain | Ikke registreret | I 1 tilstand |
| PLIN4perilipin 4 | Ikke registreret | I 1 tilstand |
| RBCK1RANBP2-type and C3HC4-type zinc finger containing 1 | Ikke registreret | I 1 tilstand |
| SLC25A20solute carrier family 25 member 20 | Ikke registreret | I 1 tilstand |
| SLC25A42solute carrier family 25 member 42 | Ikke registreret | I 1 tilstand |
| SQSTM1sequestosome 1 | Ikke registreret | I 1 tilstand |
| TCAPtitin-cap | Ikke registreret | I 1 tilstand |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Ikke registreret | I 1 tilstand |
| VMA21vacuolar ATPase assembly factor VMA21 | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
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Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
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