Požymis
Elevated blood creatine phosphokinase
Klinikinis pavadinimas: Elevated circulating creatine kinase activity
The activity of creatine kinase in the blood circulation is above the upper limit of normal.
Santrauka
- Taip pat vadinama
- 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
- Kūno sistema
- Laboratory abnormality
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Įsigyti savo Genome Test286 genų susiję su Elevated blood creatine phosphokinase
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Elevated blood creatine phosphokinase. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ADRA2Aadrenoceptor alpha 2A | Visada | 1 ligoje |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Visada | 1 ligoje |
| ALDOAaldolase, fructose-bisphosphate A | Visada | 1 ligoje |
| ANO5anoctamin 5 | Visada | 4 ligose |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Visada | 2 ligose |
| B4GALT1beta-1,4-galactosyltransferase 1 | Visada | 2 ligose |
| BAG3BAG cochaperone 3 | Visada | 3 ligose |
| CAPN3calpain 3 | Visada | 3 ligose |
| CAV3caveolin 3 | Visada | 4 ligose |
| CAVIN1caveolae associated protein 1 | Visada | 1 ligoje |
| CHKBcholine kinase beta | Visada | 1 ligoje |
| COG7component of oligomeric golgi complex 7 | Visada | 2 ligose |
| COG8component of oligomeric golgi complex 8 | Visada | 1 ligoje |
| COL4A1collagen type IV alpha 1 chain | Visada | 3 ligose |
| COL6A2collagen type VI alpha 2 chain | Visada | 5 ligose |
| CPT2carnitine palmitoyltransferase 2 | Visada | 5 ligose |
| CRPPACDP-L-ribitol pyrophosphorylase A | Visada | 3 ligose |
| CRYABcrystallin alpha B | Visada | 2 ligose |
| DAG1dystroglycan 1 | Visada | 5 ligose |
| DMDdystrophin | Visada | 5 ligose |
| DPM3dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Visada | 1 ligoje |
| DPYSdihydropyrimidinase | Visada | 1 ligoje |
| DTNAdystrobrevin alpha | Visada | 1 ligoje |
| DYSFdysferlin | Visada | 4 ligose |
| EMDemerin | Visada | 2 ligose |
| EPG5ectopic P-granules 5 autophagy tethering factor | Visada | 2 ligose |
| FAM111BFAM111 trypsin like peptidase B | Visada | 1 ligoje |
| FHL1four and a half LIM domains 1 | Visada | 6 ligose |
| FKRPfukutin related protein | Visada | 8 ligose |
| FKTNfukutin | Visada | 6 ligose |
| FLVCR1FLVCR choline and heme transporter 1 | Visada | 1 ligoje |
| GAAalpha glucosidase | Visada | 3 ligose |
| GGPS1geranylgeranyl diphosphate synthase 1 | Visada | 1 ligoje |
| GMPPBGDP-mannose pyrophosphorylase B | Visada | 8 ligose |
| GOLGA2golgin A2 | Visada | 1 ligoje |
| GOSR2golgi SNAP receptor complex member 2 | Visada | 2 ligose |
| GUK1guanylate kinase 1 | Visada | 1 ligoje |
| HHAThedgehog acyltransferase | Visada | 1 ligoje |
| HMGCR3-hydroxy-3-methylglutaryl-CoA reductase | Visada | 1 ligoje |
| HMGCS13-hydroxy-3-methylglutaryl-CoA synthase 1 | Visada | 1 ligoje |
Rodyti dar 246 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Visada | 2 ligose |
| INPP5Kinositol polyphosphate-5-phosphatase K | Visada | 1 ligoje |
| ISCUiron-sulfur cluster assembly enzyme | Visada | 1 ligoje |
| KYkyphoscoliosis peptidase | Visada | 1 ligoje |
| LAMA2laminin subunit alpha 2 | Visada | 2 ligose |
| LAMP2lysosome associated membrane protein 2 | Visada | 2 ligose |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Visada | 5 ligose |
| LMNAlamin A/C | Visada | 5 ligose |
| LPIN1lipin 1 | Visada | 1 ligoje |
| MBmyoglobin | Visada | 1 ligoje |
| MEGF10multiple EGF like domains 10 | Visada | 1 ligoje |
| MICU1mitochondrial calcium uptake 1 | Visada | 1 ligoje |
| MIEF2mitochondrial elongation factor 2 | Visada | 1 ligoje |
| MLIPmuscular LMNA interacting protein | Visada | 1 ligoje |
| MVKmevalonate kinase | Visada | 1 ligoje |
| MYH7myosin heavy chain 7 | Visada | 2 ligose |
| MYOTmyotilin | Visada | 2 ligose |
| NFS1NFS1 cysteine desulfurase | Visada | 1 ligoje |
| OBSCNobscurin, cytoskeletal calmodulin and titin-interacting RhoGEF | Visada | 1 ligoje |
| PACSIN3protein kinase C and casein kinase substrate in neurons 3 | Visada | 1 ligoje |
| PANK2pantothenate kinase 2 | Visada | 1 ligoje |
| PET100PET100 cytochrome c oxidase chaperone | Visada | 1 ligoje |
| PFKMphosphofructokinase, muscle | Visada | 1 ligoje |
| PHKA1phosphorylase kinase regulatory subunit alpha 1 | Visada | 2 ligose |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Visada | 1 ligoje |
| POLG2DNA polymerase gamma 2, accessory subunit | Visada | 2 ligose |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Visada | 5 ligose |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Visada | 1 ligoje |
| POMKprotein O-mannose kinase | Visada | 3 ligose |
| POMT1protein O-mannosyltransferase 1 | Visada | 7 ligose |
| POMT2protein O-mannosyltransferase 2 | Visada | 8 ligose |
| PSMB9proteasome 20S subunit beta 9 | Visada | 1 ligoje |
| RFC4replication factor C subunit 4 | Visada | 1 ligoje |
| RTN2reticulon 2 | Visada | 1 ligoje |
| SGCAsarcoglycan alpha | Visada | 2 ligose |
| SGCBsarcoglycan beta | Visada | 2 ligose |
| SGCDsarcoglycan delta | Visada | 1 ligoje |
| SLC16A1solute carrier family 16 member 1 | Visada | 1 ligoje |
| SLC25A4solute carrier family 25 member 4 | Visada | 2 ligose |
| SQORsulfide quinone oxidoreductase | Visada | 1 ligoje |
| STIM1stromal interaction molecule 1 | Visada | 2 ligose |
| SUOXsulfite oxidase | Visada | 1 ligoje |
| SVILsupervillin | Visada | 1 ligoje |
| SYNE2spectrin repeat containing nuclear envelope protein 2 | Visada | 2 ligose |
| SYNJ1synaptojanin 1 | Visada | 1 ligoje |
| TAMM41TAM41 mitochondrial translocator assembly and maintenance homolog | Visada | 1 ligoje |
| TANGO2transport and golgi organization 2 homolog | Visada | 2 ligose |
| TIMM22translocase of inner mitochondrial membrane 22 | Visada | 1 ligoje |
| TK2thymidine kinase 2 | Visada | 3 ligose |
| TMEM165transmembrane protein 165 | Visada | 1 ligoje |
| TNNT1troponin T1, slow skeletal type | Visada | 1 ligoje |
| TOP3ADNA topoisomerase III alpha | Visada | 2 ligose |
| TRAPPC11trafficking protein particle complex subunit 11 | Visada | 1 ligoje |
| TTNtitin | Visada | 4 ligose |
| TUBA4Atubulin alpha 4a | Visada | 2 ligose |
| UBA1ubiquitin like modifier activating enzyme 1 | Visada | 1 ligoje |
| UQCRFS1ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 | Visada | 1 ligoje |
| VMA12vacuolar ATPase assembly factor VMA12 | Visada | 1 ligoje |
| XKX-linked Kx blood group antigen, Kell and VPS13A binding protein | Visada | 1 ligoje |
| ACTA1actin alpha 1, skeletal muscle | Labai dažnai (80–99%) | 2 ligose |
| ADSS1adenylosuccinate synthase 1 | Labai dažnai (80–99%) | 1 ligoje |
| ANXA11annexin A11 | Labai dažnai (80–99%) | 1 ligoje |
| CASQ1calsequestrin 1 | Labai dažnai (80–99%) | 2 ligose |
| COL12A1collagen type XII alpha 1 chain | Labai dažnai (80–99%) | 3 ligose |
| COL6A1collagen type VI alpha 1 chain | Labai dažnai (80–99%) | 3 ligose |
| COL6A3collagen type VI alpha 3 chain | Labai dažnai (80–99%) | 3 ligose |
| DMGDHdimethylglycine dehydrogenase | Labai dažnai (80–99%) | 2 ligose |
| DNMT3BDNA methyltransferase 3 beta | Labai dažnai (80–99%) | 1 ligoje |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Labai dažnai (80–99%) | 2 ligose |
| DUX4double homeobox 4 | Labai dažnai (80–99%) | 1 ligoje |
| DUX4L1double homeobox 4 like 1 (pseudogene) | Labai dažnai (80–99%) | 1 ligoje |
| FRG1FSHD region gene 1 | Labai dažnai (80–99%) | 2 ligose |
| GIPC1GIPC PDZ domain containing family member 1 | Labai dažnai (80–99%) | 1 ligoje |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Labai dažnai (80–99%) | 1 ligoje |
| HINT1histidine triad nucleotide binding protein 1 | Labai dažnai (80–99%) | 2 ligose |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Labai dažnai (80–99%) | 2 ligose |
| HSPB8heat shock protein family B (small) member 8 | Labai dažnai (80–99%) | 1 ligoje |
| HSPG2heparan sulfate proteoglycan 2 | Labai dažnai (80–99%) | 2 ligose |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Labai dažnai (80–99%) | 2 ligose |
| LIPElipase E, hormone sensitive type | Labai dažnai (80–99%) | 2 ligose |
| LTBP4latent transforming growth factor beta binding protein 4 | Labai dažnai (80–99%) | 1 ligoje |
| ORAI1ORAI calcium release-activated calcium modulator 1 | Labai dažnai (80–99%) | 1 ligoje |
| PYGMglycogen phosphorylase, muscle associated | Labai dažnai (80–99%) | 2 ligose |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Labai dažnai (80–99%) | 2 ligose |
| SIL1SIL1 nucleotide exchange factor | Labai dažnai (80–99%) | 1 ligoje |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Labai dažnai (80–99%) | 1 ligoje |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Labai dažnai (80–99%) | 2 ligose |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Labai dažnai (80–99%) | 2 ligose |
| TMEM43transmembrane protein 43 | Labai dažnai (80–99%) | 1 ligoje |
| TRIM32tripartite motif containing 32 | Labai dažnai (80–99%) | 2 ligose |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Labai dažnai (80–99%) | 1 ligoje |
| VCPvalosin containing protein | Labai dažnai (80–99%) | 4 ligose |
| ADKadenosine kinase | Dažnai (30–79%) | 1 ligoje |
| AHCYadenosylhomocysteinase | Dažnai (30–79%) | 1 ligoje |
| AP5Z1adaptor related protein complex 5 subunit zeta 1 | Dažnai (30–79%) | 1 ligoje |
| APTXaprataxin | Dažnai (30–79%) | 2 ligose |
| ATP2A2ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 | Dažnai (30–79%) | 1 ligoje |
| ATP5F1DATP synthase F1 subunit delta | Dažnai (30–79%) | 1 ligoje |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Dažnai (30–79%) | 1 ligoje |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Dažnai (30–79%) | 1 ligoje |
| CA2carbonic anhydrase 2 | Dažnai (30–79%) | 1 ligoje |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Dažnai (30–79%) | 3 ligose |
| CLIP2CAP-Gly domain containing linker protein 2 | Dažnai (30–79%) | 1 ligoje |
| COG6component of oligomeric golgi complex 6 | Dažnai (30–79%) | 1 ligoje |
| COX16cytochrome c oxidase assembly factor COX16 | Dažnai (30–79%) | 1 ligoje |
| DNAJB4DnaJ heat shock protein family (Hsp40) member B4 | Dažnai (30–79%) | 1 ligoje |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Dažnai (30–79%) | 1 ligoje |
| DNM2dynamin 2 | Dažnai (30–79%) | 2 ligose |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Dažnai (30–79%) | 2 ligose |
| EIF4Heukaryotic translation initiation factor 4H | Dažnai (30–79%) | 1 ligoje |
| ELNelastin | Dažnai (30–79%) | 1 ligoje |
| FKBP14FKBP prolyl isomerase 14 | Dažnai (30–79%) | 1 ligoje |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Dažnai (30–79%) | 1 ligoje |
| GATBglutamyl-tRNA amidotransferase subunit B | Dažnai (30–79%) | 1 ligoje |
| GATCglutamyl-tRNA amidotransferase subunit C | Dažnai (30–79%) | 1 ligoje |
| GTF2Igeneral transcription factor IIi | Dažnai (30–79%) | 1 ligoje |
| GTF2IRD1GTF2I repeat domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| GTF2IRD2GTF2I repeat domain containing 2 | Dažnai (30–79%) | 1 ligoje |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Dažnai (30–79%) | 1 ligoje |
| INF2inverted formin 2 | Dažnai (30–79%) | 1 ligoje |
| ISCA1iron-sulfur cluster assembly 1 | Dažnai (30–79%) | 2 ligose |
| ITGA7integrin subunit alpha 7 | Dažnai (30–79%) | 1 ligoje |
| ITGB4integrin subunit beta 4 | Dažnai (30–79%) | 1 ligoje |
| JAG2jagged canonical Notch ligand 2 | Dažnai (30–79%) | 1 ligoje |
| LIMK1LIM domain kinase 1 | Dažnai (30–79%) | 1 ligoje |
| MATR3matrin 3 | Dažnai (30–79%) | 1 ligoje |
| METTL27methyltransferase like 27 | Dažnai (30–79%) | 1 ligoje |
| MFN2mitofusin 2 | Dažnai (30–79%) | 1 ligoje |
| MGME1mitochondrial genome maintenance exonuclease 1 | Dažnai (30–79%) | 2 ligose |
| MPZmyelin protein zero | Dažnai (30–79%) | 1 ligoje |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Dažnai (30–79%) | 1 ligoje |
| MTMR14myotubularin related protein 14 | Dažnai (30–79%) | 1 ligoje |
| MYL2myosin light chain 2 | Dažnai (30–79%) | 1 ligoje |
| MYMKmyomaker, myoblast fusion factor | Dažnai (30–79%) | 1 ligoje |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Dažnai (30–79%) | 1 ligoje |
| NAXDNAD(P)HX dehydratase | Dažnai (30–79%) | 1 ligoje |
| NCF1neutrophil cytosolic factor 1 | Dažnai (30–79%) | 1 ligoje |
| NEFHneurofilament heavy chain | Dažnai (30–79%) | 1 ligoje |
| NOTCH2NLCnotch 2 N-terminal like C | Dažnai (30–79%) | 1 ligoje |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Dažnai (30–79%) | 1 ligoje |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Dažnai (30–79%) | 2 ligose |
| PDK3pyruvate dehydrogenase kinase 3 | Dažnai (30–79%) | 1 ligoje |
| PGAM2phosphoglycerate mutase 2 | Dažnai (30–79%) | 2 ligose |
| PGM1phosphoglucomutase 1 | Dažnai (30–79%) | 1 ligoje |
| PHKG1phosphorylase kinase catalytic subunit gamma 1 | Dažnai (30–79%) | 1 ligoje |
| PLA2G6phospholipase A2 group VI | Dažnai (30–79%) | 1 ligoje |
| PLECplectin | Dažnai (30–79%) | 3 ligose |
| PNPLA2patatin like domain 2, triacylglycerol lipase | Dažnai (30–79%) | 2 ligose |
| POPDC1popeye domain cAMP effector 1 | Dažnai (30–79%) | 1 ligoje |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Dažnai (30–79%) | 1 ligoje |
| QRSL1glutaminyl-tRNA amidotransferase subunit QRSL1 | Dažnai (30–79%) | 1 ligoje |
| RFC2replication factor C subunit 2 | Dažnai (30–79%) | 1 ligoje |
| RILPL1Rab interacting lysosomal protein like 1 | Dažnai (30–79%) | 1 ligoje |
| RYR1ryanodine receptor 1 | Dažnai (30–79%) | 5 ligose |
| SGCGsarcoglycan gamma | Dažnai (30–79%) | 2 ligose |
| STX1Asyntaxin 1A | Dažnai (30–79%) | 1 ligoje |
| TBCDtubulin folding cofactor D | Dažnai (30–79%) | 2 ligose |
| TBL2transducin beta like 2 | Dažnai (30–79%) | 1 ligoje |
| TFGtrafficking from ER to golgi regulator | Dažnai (30–79%) | 1 ligoje |
| TMEM270transmembrane protein 270 | Dažnai (30–79%) | 1 ligoje |
| TOR1AIP1torsin 1A interacting protein 1 | Dažnai (30–79%) | 1 ligoje |
| TPM2tropomyosin 2 | Dažnai (30–79%) | 2 ligose |
| TRAPPC2Ltrafficking protein particle complex subunit 2L | Dažnai (30–79%) | 1 ligoje |
| TSFMTs translation elongation factor, mitochondrial | Dažnai (30–79%) | 1 ligoje |
| VAC14VAC14 component of PIKFYVE complex | Dažnai (30–79%) | 1 ligoje |
| VPS13Avacuolar protein sorting 13 homolog A | Dažnai (30–79%) | 2 ligose |
| VPS37DVPS37D subunit of ESCRT-I | Dažnai (30–79%) | 1 ligoje |
| ACADMacyl-CoA dehydrogenase medium chain | Kartais (5–29%) | 1 ligoje |
| ACADVLacyl-CoA dehydrogenase very long chain | Kartais (5–29%) | 2 ligose |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Kartais (5–29%) | 1 ligoje |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Kartais (5–29%) | 1 ligoje |
| AMACRalpha-methylacyl-CoA racemase | Kartais (5–29%) | 1 ligoje |
| BICD2BICD cargo adaptor 2 | Kartais (5–29%) | 1 ligoje |
| C1QBPcomplement C1q binding protein | Kartais (5–29%) | 1 ligoje |
| CACNA1Scalcium voltage-gated channel subunit alpha1 S | Kartais (5–29%) | 1 ligoje |
| CFL2cofilin 2 | Kartais (5–29%) | 1 ligoje |
| COQ4coenzyme Q4 | Kartais (5–29%) | 1 ligoje |
| DHX16DEAH-box helicase 16 | Kartais (5–29%) | 1 ligoje |
| DNA2DNA replication helicase/nuclease 2 | Kartais (5–29%) | 1 ligoje |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Kartais (5–29%) | 1 ligoje |
| FBXO22F-box protein 22 | Kartais (5–29%) | 1 ligoje |
| FLAD1flavin adenine dinucleotide synthetase 1 | Kartais (5–29%) | 1 ligoje |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Kartais (5–29%) | 1 ligoje |
| GYG1glycogenin 1 | Kartais (5–29%) | 1 ligoje |
| HEXBhexosaminidase subunit beta | Kartais (5–29%) | 1 ligoje |
| KLHL41kelch like family member 41 | Kartais (5–29%) | 1 ligoje |
| LAMA1laminin subunit alpha 1 | Kartais (5–29%) | 1 ligoje |
| LMOD3leiomodin 3 | Kartais (5–29%) | 1 ligoje |
| LRP12LDL receptor related protein 12 | Kartais (5–29%) | 1 ligoje |
| MPDU1mannose-P-dolichol utilization defect 1 | Kartais (5–29%) | 1 ligoje |
| NEBnebulin | Kartais (5–29%) | 1 ligoje |
| OTUD5OTU deubiquitinase 5 | Kartais (5–29%) | 1 ligoje |
| PABPN1poly(A) binding protein nuclear 1 | Kartais (5–29%) | 1 ligoje |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Kartais (5–29%) | 1 ligoje |
| PHKBphosphorylase kinase regulatory subunit beta | Kartais (5–29%) | 1 ligoje |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Kartais (5–29%) | 1 ligoje |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Kartais (5–29%) | 1 ligoje |
| PIK3R5phosphoinositide-3-kinase regulatory subunit 5 | Kartais (5–29%) | 1 ligoje |
| PITRM1pitrilysin metallopeptidase 1 | Kartais (5–29%) | 1 ligoje |
| PLXNA1plexin A1 | Kartais (5–29%) | 1 ligoje |
| POGLUT1protein O-glucosyltransferase 1 | Kartais (5–29%) | 1 ligoje |
| POLGDNA polymerase gamma, catalytic subunit | Kartais (5–29%) | 2 ligose |
| POLRMTRNA polymerase mitochondrial | Kartais (5–29%) | 1 ligoje |
| PRUNE1prune exopolyphosphatase 1 | Kartais (5–29%) | 1 ligoje |
| RNASEH1ribonuclease H1 | Kartais (5–29%) | 1 ligoje |
| RRM1ribonucleotide reductase catalytic subunit M1 | Kartais (5–29%) | 2 ligose |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Kartais (5–29%) | 1 ligoje |
| SETXsenataxin | Kartais (5–29%) | 2 ligose |
| SLC22A5solute carrier family 22 member 5 | Kartais (5–29%) | 1 ligoje |
| SLC39A14solute carrier family 39 member 14 | Kartais (5–29%) | 1 ligoje |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Kartais (5–29%) | 1 ligoje |
| TWNKtwinkle mtDNA helicase | Kartais (5–29%) | 2 ligose |
| VAPBVAMP associated protein B and C | Kartais (5–29%) | 1 ligoje |
| VMA22vacuolar ATPase assembly factor VMA22 | Kartais (5–29%) | 1 ligoje |
| FDX2ferredoxin 2 | Retai (1–4 %) | 1 ligoje |
| ABCD3ATP binding cassette subfamily D member 3 | Neužfiksuota | 1 ligoje |
| ACTN2actinin alpha 2 | Neužfiksuota | 1 ligoje |
| AGLamylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase | Neužfiksuota | 1 ligoje |
| ARandrogen receptor | Neužfiksuota | 1 ligoje |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Neužfiksuota | 1 ligoje |
| C19orf12chromosome 19 open reading frame 12 | Neužfiksuota | 1 ligoje |
| CNBPCCHC-type zinc finger nucleic acid binding protein | Neužfiksuota | 1 ligoje |
| COA7cytochrome c oxidase assembly factor 7 | Neužfiksuota | 1 ligoje |
| COL9A3collagen type IX alpha 3 chain | Neužfiksuota | 1 ligoje |
| COQ2coenzyme Q2, polyprenyltransferase | Neužfiksuota | 1 ligoje |
| COX20cytochrome c oxidase assembly factor COX20 | Neužfiksuota | 1 ligoje |
| CPT1Acarnitine palmitoyltransferase 1A | Neužfiksuota | 1 ligoje |
| DGUOKdeoxyguanosine kinase | Neužfiksuota | 1 ligoje |
| DNAJB6DnaJ heat shock protein family (Hsp40) member B6 | Neužfiksuota | 1 ligoje |
| ENO3enolase 3 | Neužfiksuota | 1 ligoje |
| FLNCfilamin C | Neužfiksuota | 1 ligoje |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Neužfiksuota | 1 ligoje |
| HNRNPDLheterogeneous nuclear ribonucleoprotein D like | Neužfiksuota | 1 ligoje |
| LDB3LIM domain binding 3 | Neužfiksuota | 1 ligoje |
| LDHAlactate dehydrogenase A | Neužfiksuota | 1 ligoje |
| LIMS2LIM zinc finger domain containing 2 | Neužfiksuota | 1 ligoje |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Neužfiksuota | 1 ligoje |
| NEFLneurofilament light chain | Neužfiksuota | 1 ligoje |
| PLIN4perilipin 4 | Neužfiksuota | 1 ligoje |
| RBCK1RANBP2-type and C3HC4-type zinc finger containing 1 | Neužfiksuota | 1 ligoje |
| SLC25A20solute carrier family 25 member 20 | Neužfiksuota | 1 ligoje |
| SLC25A42solute carrier family 25 member 42 | Neužfiksuota | 1 ligoje |
| SQSTM1sequestosome 1 | Neužfiksuota | 1 ligoje |
| TCAPtitin-cap | Neužfiksuota | 1 ligoje |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Neužfiksuota | 1 ligoje |
| VMA21vacuolar ATPase assembly factor VMA21 | Neužfiksuota | 1 ligoje |
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- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
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