Piirre
Dystonia
An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.
Yhteenveto
- Tunnetaan myös nimellä
- Dystonic movements
- Elimistön järjestelmä
- Abnormality of the nervous system
ViitegenomiGRCh38hg38
Geenien ja varianttien sivujen sijainnit noudattavat tätä valintaa tässä selaimessa.
Read the genes linked to Dystonia, and the rest of your genome, with one test.
Alkaen 449 $Ilmainen toimitus · Tulokset 6–8 viikossa
Tilaa Genome Test455 geeniä, jotka liittyvät piirteeseen Dystonia
Näiden geenien muutokset aiheuttavat harvinaisia sairauksia, joissa Dystonia esiintyy. Useimmilla, joilla on tämä piirre, ei ole mitään näistä sairauksista, eikä tämän listan geeni kerro mitään kenenkään omasta genomista.
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| ACER3alkaline ceramidase 3 | Aina | 1 sairaudessa |
| ADCY5adenylate cyclase 5 | Aina | 4 sairaudessa |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Aina | 5 sairaudessa |
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Aina | 1 sairaudessa |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Aina | 1 sairaudessa |
| ARV1ARV1 fatty acid homeostasis modulator | Aina | 1 sairaudessa |
| ATP5POATP synthase peripheral stalk subunit OSCP | Aina | 2 sairaudessa |
| BCAP31B cell receptor associated protein 31 | Aina | 2 sairaudessa |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Aina | 1 sairaudessa |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Aina | 1 sairaudessa |
| CLCN4Cl-/H+ antiporter 4 | Aina | 1 sairaudessa |
| COASYCoenzyme A synthase | Aina | 1 sairaudessa |
| COQ4coenzyme Q4 | Aina | 1 sairaudessa |
| COQ9coenzyme Q9 | Aina | 1 sairaudessa |
| CWF19L1CWF19 like cell cycle control factor 1 | Aina | 2 sairaudessa |
| DALRD3DALR anticodon binding domain containing 3 | Aina | 1 sairaudessa |
| DLDdihydrolipoamide dehydrogenase | Aina | 1 sairaudessa |
| DLG5discs large MAGUK scaffold protein 5 | Aina | 1 sairaudessa |
| DMXL2Dmx like 2 | Aina | 3 sairaudessa |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Aina | 2 sairaudessa |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Aina | 1 sairaudessa |
| ESAMendothelial cell adhesion molecule | Aina | 1 sairaudessa |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Aina | 1 sairaudessa |
| FDXRferredoxin reductase | Aina | 1 sairaudessa |
| FUCA1alpha-L-fucosidase 1 | Aina | 1 sairaudessa |
| GCH1GTP cyclohydrolase 1 | Aina | 2 sairaudessa |
| GCSHglycine cleavage system protein H | Aina | 1 sairaudessa |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Aina | 4 sairaudessa |
| GSX2GS homeobox 2 | Aina | 1 sairaudessa |
| GTF3C3general transcription factor IIIC subunit 3 | Aina | 1 sairaudessa |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Aina | 1 sairaudessa |
| HTThuntingtin | Aina | 3 sairaudessa |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Aina | 1 sairaudessa |
| KARS1lysyl-tRNA synthetase 1 | Aina | 2 sairaudessa |
| KCNA4potassium voltage-gated channel subfamily A member 4 | Aina | 1 sairaudessa |
| KCNN2potassium calcium-activated channel subfamily N member 2 | Aina | 2 sairaudessa |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Aina | 3 sairaudessa |
| KMT2Blysine methyltransferase 2B | Aina | 1 sairaudessa |
| LIPT1lipoyltransferase 1 | Aina | 1 sairaudessa |
| LRRC7leucine rich repeat containing 7 | Aina | 1 sairaudessa |
Näytä 415 geeniä lisää
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| MECP2methyl-CpG binding protein 2 | Aina | 4 sairaudessa |
| MMADHCmetabolism of cobalamin associated D | Aina | 2 sairaudessa |
| MRE11MRE11 double strand break repair nuclease | Aina | 2 sairaudessa |
| NADK2NAD kinase 2, mitochondrial | Aina | 2 sairaudessa |
| NAV3neuron navigator 3 | Aina | 1 sairaudessa |
| NDUFA12NADH:ubiquinone oxidoreductase subunit A12 | Aina | 1 sairaudessa |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Aina | 1 sairaudessa |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Aina | 1 sairaudessa |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Aina | 1 sairaudessa |
| NDUFAF6NADH:ubiquinone oxidoreductase complex assembly factor 6 | Aina | 1 sairaudessa |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Aina | 1 sairaudessa |
| NKX6-2NK6 homeobox 2 | Aina | 2 sairaudessa |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Aina | 2 sairaudessa |
| OGDHoxoglutarate dehydrogenase | Aina | 1 sairaudessa |
| PCDH12protocadherin 12 | Aina | 1 sairaudessa |
| PDE2Aphosphodiesterase 2A | Aina | 1 sairaudessa |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Aina | 1 sairaudessa |
| PLA2G6phospholipase A2 group VI | Aina | 4 sairaudessa |
| PNPLA8patatin like domain 8, phospholipase A2 | Aina | 1 sairaudessa |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Aina | 1 sairaudessa |
| POLGDNA polymerase gamma, catalytic subunit | Aina | 2 sairaudessa |
| POLR1ARNA polymerase I subunit A | Aina | 1 sairaudessa |
| POLR3BRNA polymerase III subunit B | Aina | 2 sairaudessa |
| POLR3KRNA polymerase III subunit K | Aina | 1 sairaudessa |
| RAB32RAB32, member RAS oncogene family | Aina | 1 sairaudessa |
| RFC4replication factor C subunit 4 | Aina | 1 sairaudessa |
| RNU2-2RNA, U2 small nuclear 2 | Aina | 1 sairaudessa |
| RPS6KC1ribosomal protein S6 kinase C1 | Aina | 1 sairaudessa |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Aina | 4 sairaudessa |
| SCP2sterol carrier protein 2 | Aina | 1 sairaudessa |
| SDHDsuccinate dehydrogenase complex subunit D | Aina | 1 sairaudessa |
| SERAC1serine active site containing 1 | Aina | 2 sairaudessa |
| SHQ1SHQ1, H/ACA ribonucleoprotein assembly factor | Aina | 2 sairaudessa |
| SLC18A2solute carrier family 18 member A2 | Aina | 2 sairaudessa |
| SLC19A3solute carrier family 19 member 3 | Aina | 2 sairaudessa |
| SLC30A9solute carrier family 30 member 9 | Aina | 1 sairaudessa |
| SLC39A14solute carrier family 39 member 14 | Aina | 2 sairaudessa |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Aina | 1 sairaudessa |
| SYNJ1synaptojanin 1 | Aina | 4 sairaudessa |
| TGIF1TGFB induced factor homeobox 1 | Aina | 1 sairaudessa |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Aina | 2 sairaudessa |
| TOR1Atorsin family 1 member A | Aina | 2 sairaudessa |
| TRAPPC12trafficking protein particle complex subunit 12 | Aina | 2 sairaudessa |
| TREX1three prime repair exonuclease 1 | Aina | 2 sairaudessa |
| TTPAalpha tocopherol transfer protein | Aina | 2 sairaudessa |
| UBA5ubiquitin like modifier activating enzyme 5 | Aina | 1 sairaudessa |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Aina | 1 sairaudessa |
| UQCRQubiquinol-cytochrome c reductase complex III subunit VII | Aina | 1 sairaudessa |
| VAC14VAC14 component of PIKFYVE complex | Aina | 1 sairaudessa |
| VPS16VPS16 core subunit of CORVET and HOPS complexes | Aina | 1 sairaudessa |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Aina | 3 sairaudessa |
| WDR45WD repeat domain 45 | Aina | 2 sairaudessa |
| ATXN3ataxin 3 | Hyvin usein (80–99%) | 5 sairaudessa |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Hyvin usein (80–99%) | 1 sairaudessa |
| DCAF17DDB1 and CUL4 associated factor 17 | Hyvin usein (80–99%) | 2 sairaudessa |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Hyvin usein (80–99%) | 3 sairaudessa |
| DRD2dopamine receptor D2 | Hyvin usein (80–99%) | 1 sairaudessa |
| FTLferritin light chain | Hyvin usein (80–99%) | 2 sairaudessa |
| GBA1glucosylceramidase beta 1 | Hyvin usein (80–99%) | 3 sairaudessa |
| GM2Aganglioside GM2 activator | Hyvin usein (80–99%) | 2 sairaudessa |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Hyvin usein (80–99%) | 2 sairaudessa |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| KCNJ10potassium inwardly rectifying channel subfamily J member 10 | Hyvin usein (80–99%) | 1 sairaudessa |
| KCTD17potassium channel tetramerization domain containing 17 | Hyvin usein (80–99%) | 2 sairaudessa |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Hyvin usein (80–99%) | 2 sairaudessa |
| MED27mediator complex subunit 27 | Hyvin usein (80–99%) | 1 sairaudessa |
| MLYCDmalonyl-CoA decarboxylase | Hyvin usein (80–99%) | 1 sairaudessa |
| MPV17mitochondrial inner membrane protein MPV17 | Hyvin usein (80–99%) | 1 sairaudessa |
| PANK2pantothenate kinase 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| PLP1proteolipid protein 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| PNKDPNKD metallo-beta-lactamase domain containing | Hyvin usein (80–99%) | 1 sairaudessa |
| PODXLpodocalyxin like | Hyvin usein (80–99%) | 2 sairaudessa |
| PRRT2proline rich transmembrane protein 2 | Hyvin usein (80–99%) | 4 sairaudessa |
| PSAPprosaposin | Hyvin usein (80–99%) | 4 sairaudessa |
| SGCEsarcoglycan epsilon | Hyvin usein (80–99%) | 1 sairaudessa |
| SLC2A1solute carrier family 2 member 1 | Hyvin usein (80–99%) | 7 sairaudessa |
| SLC30A10solute carrier family 30 member 10 | Hyvin usein (80–99%) | 2 sairaudessa |
| SLC6A3solute carrier family 6 member 3 | Hyvin usein (80–99%) | 2 sairaudessa |
| TBC1D24TBC1 domain family member 24 | Hyvin usein (80–99%) | 2 sairaudessa |
| THAP1THAP domain containing 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| TMEM151Atransmembrane protein 151A | Hyvin usein (80–99%) | 1 sairaudessa |
| TSEN54tRNA splicing endonuclease subunit 54 | Hyvin usein (80–99%) | 1 sairaudessa |
| TUBB4Atubulin beta 4A class IVa | Hyvin usein (80–99%) | 1 sairaudessa |
| VPS4Avacuolar protein sorting 4 homolog A | Hyvin usein (80–99%) | 1 sairaudessa |
| AARS1alanyl-tRNA synthetase 1 | Usein (30–79%) | 1 sairaudessa |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Usein (30–79%) | 1 sairaudessa |
| ACBD6acyl-CoA binding domain containing 6 | Usein (30–79%) | 1 sairaudessa |
| ADARadenosine deaminase RNA specific | Usein (30–79%) | 3 sairaudessa |
| AFG2BAAA ATPase AFG2B | Usein (30–79%) | 1 sairaudessa |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Usein (30–79%) | 1 sairaudessa |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Usein (30–79%) | 1 sairaudessa |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Usein (30–79%) | 2 sairaudessa |
| AMPD2adenosine monophosphate deaminase 2 | Usein (30–79%) | 1 sairaudessa |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Usein (30–79%) | 2 sairaudessa |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Usein (30–79%) | 1 sairaudessa |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Usein (30–79%) | 1 sairaudessa |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Usein (30–79%) | 1 sairaudessa |
| APTXaprataxin | Usein (30–79%) | 1 sairaudessa |
| AQP4aquaporin 4 | Usein (30–79%) | 2 sairaudessa |
| ARSAarylsulfatase A | Usein (30–79%) | 4 sairaudessa |
| ATCAYATCAY kinesin light chain interacting caytaxin | Usein (30–79%) | 1 sairaudessa |
| ATP13A2ATPase cation transporting 13A2 | Usein (30–79%) | 4 sairaudessa |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Usein (30–79%) | 2 sairaudessa |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Usein (30–79%) | 5 sairaudessa |
| ATP5F1AATP synthase F1 subunit alpha | Usein (30–79%) | 2 sairaudessa |
| ATP7BATPase copper transporting beta | Usein (30–79%) | 2 sairaudessa |
| ATXN1ataxin 1 | Usein (30–79%) | 1 sairaudessa |
| ATXN2ataxin 2 | Usein (30–79%) | 2 sairaudessa |
| ATXN8ataxin 8 | Usein (30–79%) | 1 sairaudessa |
| ATXN8OSATXN8 opposite strand lncRNA | Usein (30–79%) | 2 sairaudessa |
| BORCS8BLOC-1 related complex subunit 8 | Usein (30–79%) | 1 sairaudessa |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Usein (30–79%) | 4 sairaudessa |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Usein (30–79%) | 2 sairaudessa |
| CASKcalcium/calmodulin dependent serine protein kinase | Usein (30–79%) | 2 sairaudessa |
| CDKL5cyclin dependent kinase like 5 | Usein (30–79%) | 3 sairaudessa |
| COXFA4cytochrome c oxidase associated subunit FA4 | Usein (30–79%) | 1 sairaudessa |
| CPceruloplasmin | Usein (30–79%) | 1 sairaudessa |
| CRLS1cardiolipin synthase 1 | Usein (30–79%) | 1 sairaudessa |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Usein (30–79%) | 1 sairaudessa |
| DDCdopa decarboxylase | Usein (30–79%) | 1 sairaudessa |
| DLATdihydrolipoamide S-acetyltransferase | Usein (30–79%) | 1 sairaudessa |
| DNAJC12DnaJ heat shock protein family (Hsp40) member C12 | Usein (30–79%) | 1 sairaudessa |
| ECM1extracellular matrix protein 1 | Usein (30–79%) | 1 sairaudessa |
| ERLIN1ER lipid raft associated 1 | Usein (30–79%) | 1 sairaudessa |
| FA2Hfatty acid 2-hydroxylase | Usein (30–79%) | 1 sairaudessa |
| FBLN1fibulin 1 | Usein (30–79%) | 1 sairaudessa |
| FBXO7F-box protein 7 | Usein (30–79%) | 2 sairaudessa |
| FTH1ferritin heavy chain 1 | Usein (30–79%) | 1 sairaudessa |
| FUSFUS RNA binding protein | Usein (30–79%) | 1 sairaudessa |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Usein (30–79%) | 2 sairaudessa |
| GCDHglutaryl-CoA dehydrogenase | Usein (30–79%) | 2 sairaudessa |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Usein (30–79%) | 1 sairaudessa |
| GPRC5BG protein-coupled receptor class C group 5 member B | Usein (30–79%) | 2 sairaudessa |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Usein (30–79%) | 2 sairaudessa |
| GTPBP2GTP binding protein 2 | Usein (30–79%) | 1 sairaudessa |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Usein (30–79%) | 2 sairaudessa |
| HIVEP2HIVEP zinc finger 2 | Usein (30–79%) | 1 sairaudessa |
| HPRT1hypoxanthine phosphoribosyltransferase 1 | Usein (30–79%) | 2 sairaudessa |
| IFIH1interferon induced with helicase C domain 1 | Usein (30–79%) | 2 sairaudessa |
| IRF2BPLinterferon regulatory factor 2 binding protein like | Usein (30–79%) | 1 sairaudessa |
| KCNQ3potassium voltage-gated channel subfamily Q member 3 | Usein (30–79%) | 1 sairaudessa |
| LIPT2lipoyl(octanoyl) transferase 2 | Usein (30–79%) | 1 sairaudessa |
| LSM11LSM11, U7 small nuclear RNA associated | Usein (30–79%) | 1 sairaudessa |
| MAPTmicrotubule associated protein tau | Usein (30–79%) | 3 sairaudessa |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Usein (30–79%) | 2 sairaudessa |
| MDH2malate dehydrogenase 2 | Usein (30–79%) | 1 sairaudessa |
| MED23mediator complex subunit 23 | Usein (30–79%) | 1 sairaudessa |
| MICU1mitochondrial calcium uptake 1 | Usein (30–79%) | 2 sairaudessa |
| MMUTmethylmalonyl-CoA mutase | Usein (30–79%) | 2 sairaudessa |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Usein (30–79%) | 4 sairaudessa |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Usein (30–79%) | 2 sairaudessa |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Usein (30–79%) | 2 sairaudessa |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Usein (30–79%) | 1 sairaudessa |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Usein (30–79%) | 2 sairaudessa |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Usein (30–79%) | 2 sairaudessa |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Usein (30–79%) | 2 sairaudessa |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Usein (30–79%) | 1 sairaudessa |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Usein (30–79%) | 1 sairaudessa |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Usein (30–79%) | 1 sairaudessa |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Usein (30–79%) | 1 sairaudessa |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Usein (30–79%) | 1 sairaudessa |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Usein (30–79%) | 3 sairaudessa |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Usein (30–79%) | 1 sairaudessa |
| NIT1nitrilase 1 | Usein (30–79%) | 1 sairaudessa |
| NTNG1netrin G1 | Usein (30–79%) | 1 sairaudessa |
| NUP54nucleoporin 54 | Usein (30–79%) | 1 sairaudessa |
| NUP62nucleoporin 62 | Usein (30–79%) | 2 sairaudessa |
| OCLNoccludin | Usein (30–79%) | 1 sairaudessa |
| PI4KAphosphatidylinositol 4-kinase alpha | Usein (30–79%) | 1 sairaudessa |
| PLAAphospholipase A2 activating protein | Usein (30–79%) | 1 sairaudessa |
| PLEKHG2pleckstrin homology and RhoGEF domain containing G2 | Usein (30–79%) | 1 sairaudessa |
| PMPCBpeptidase, mitochondrial processing subunit beta | Usein (30–79%) | 1 sairaudessa |
| PNKPpolynucleotide kinase 3'-phosphatase | Usein (30–79%) | 3 sairaudessa |
| POLR3ARNA polymerase III subunit A | Usein (30–79%) | 2 sairaudessa |
| PPIL1peptidylprolyl isomerase like 1 | Usein (30–79%) | 1 sairaudessa |
| RAB11BRAB11B, member RAS oncogene family | Usein (30–79%) | 1 sairaudessa |
| RARS1arginyl-tRNA synthetase 1 | Usein (30–79%) | 2 sairaudessa |
| REPS1RALBP1 associated Eps domain containing 1 | Usein (30–79%) | 1 sairaudessa |
| RHOBTB2Rho related BTB domain containing 2 | Usein (30–79%) | 3 sairaudessa |
| RNASEH2Aribonuclease H2 subunit A | Usein (30–79%) | 2 sairaudessa |
| RNASEH2Bribonuclease H2 subunit B | Usein (30–79%) | 2 sairaudessa |
| RNASEH2Cribonuclease H2 subunit C | Usein (30–79%) | 2 sairaudessa |
| RNU7-1RNA, U7 small nuclear 1 | Usein (30–79%) | 2 sairaudessa |
| RRP12ribosomal RNA processing 12 homolog | Usein (30–79%) | 2 sairaudessa |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Usein (30–79%) | 1 sairaudessa |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Usein (30–79%) | 1 sairaudessa |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Usein (30–79%) | 1 sairaudessa |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Usein (30–79%) | 1 sairaudessa |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Usein (30–79%) | 1 sairaudessa |
| SIGMAR1sigma receptor chaperone 1 | Usein (30–79%) | 1 sairaudessa |
| SLC16A2solute carrier family 16 member 2 | Usein (30–79%) | 1 sairaudessa |
| SLC1A3solute carrier family 1 member 3 | Usein (30–79%) | 1 sairaudessa |
| SLC2A3solute carrier family 2 member 3 | Usein (30–79%) | 1 sairaudessa |
| SLC44A1solute carrier family 44 member 1 | Usein (30–79%) | 1 sairaudessa |
| SLC6A8solute carrier family 6 member 8 | Usein (30–79%) | 2 sairaudessa |
| SMC1Astructural maintenance of chromosomes 1A | Usein (30–79%) | 1 sairaudessa |
| SNAPC4small nuclear RNA activating complex polypeptide 4 | Usein (30–79%) | 1 sairaudessa |
| SNCAsynuclein alpha | Usein (30–79%) | 4 sairaudessa |
| SORDsorbitol dehydrogenase | Usein (30–79%) | 1 sairaudessa |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Usein (30–79%) | 1 sairaudessa |
| SPRsepiapterin reductase | Usein (30–79%) | 2 sairaudessa |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Usein (30–79%) | 1 sairaudessa |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Usein (30–79%) | 1 sairaudessa |
| SPTSSAserine palmitoyltransferase small subunit A | Usein (30–79%) | 1 sairaudessa |
| SQSTM1sequestosome 1 | Usein (30–79%) | 1 sairaudessa |
| STN1STN1 subunit of CST complex | Usein (30–79%) | 1 sairaudessa |
| STUB1STIP1 homology and U-box containing protein 1 | Usein (30–79%) | 1 sairaudessa |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Usein (30–79%) | 1 sairaudessa |
| TARDBPTAR DNA binding protein | Usein (30–79%) | 1 sairaudessa |
| TBPTATA-box binding protein | Usein (30–79%) | 3 sairaudessa |
| TM2D3TM2 domain containing 3 | Usein (30–79%) | 1 sairaudessa |
| TNRtenascin R | Usein (30–79%) | 1 sairaudessa |
| TPK1thiamin pyrophosphokinase 1 | Usein (30–79%) | 1 sairaudessa |
| TRMT2BtRNA methyltransferase 2B | Usein (30–79%) | 1 sairaudessa |
| TSEN2tRNA splicing endonuclease subunit 2 | Usein (30–79%) | 1 sairaudessa |
| TTC19tetratricopeptide repeat domain 19 | Usein (30–79%) | 1 sairaudessa |
| UBQLN2ubiquilin 2 | Usein (30–79%) | 2 sairaudessa |
| UBTFupstream binding transcription factor | Usein (30–79%) | 2 sairaudessa |
| WDR73WD repeat domain 73 | Usein (30–79%) | 1 sairaudessa |
| XKX-linked Kx blood group antigen, Kell and VPS13A binding protein | Usein (30–79%) | 1 sairaudessa |
| ZNF142zinc finger protein 142 | Usein (30–79%) | 1 sairaudessa |
| ABCD1ATP binding cassette subfamily D member 1 | Joskus (5–29%) | 1 sairaudessa |
| ACADSacyl-CoA dehydrogenase short chain | Joskus (5–29%) | 1 sairaudessa |
| ACSF3acyl-CoA synthetase family member 3 | Joskus (5–29%) | 1 sairaudessa |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Joskus (5–29%) | 1 sairaudessa |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Joskus (5–29%) | 1 sairaudessa |
| ASLargininosuccinate lyase | Joskus (5–29%) | 1 sairaudessa |
| ATAD3AATPase family AAA domain containing 3A | Joskus (5–29%) | 1 sairaudessa |
| ATG7autophagy related 7 | Joskus (5–29%) | 1 sairaudessa |
| ATN1atrophin 1 | Joskus (5–29%) | 1 sairaudessa |
| ATP5F1DATP synthase F1 subunit delta | Joskus (5–29%) | 1 sairaudessa |
| ATP5F1EATP synthase F1 subunit epsilon | Joskus (5–29%) | 1 sairaudessa |
| ATP5MKATP synthase membrane subunit k | Joskus (5–29%) | 1 sairaudessa |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Joskus (5–29%) | 1 sairaudessa |
| AUHAU RNA binding methylglutaconyl-CoA hydratase | Joskus (5–29%) | 2 sairaudessa |
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Joskus (5–29%) | 2 sairaudessa |
| BCAS3BCAS3 microtubule associated cell migration factor | Joskus (5–29%) | 1 sairaudessa |
| BCKDKbranched chain keto acid dehydrogenase kinase | Joskus (5–29%) | 1 sairaudessa |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Joskus (5–29%) | 1 sairaudessa |
| CARS1cysteinyl-tRNA synthetase 1 | Joskus (5–29%) | 1 sairaudessa |
| CBScystathionine beta-synthase | Joskus (5–29%) | 1 sairaudessa |
| CDC40cell division cycle 40 | Joskus (5–29%) | 1 sairaudessa |
| CLPBClpB family mitochondrial disaggregase | Joskus (5–29%) | 1 sairaudessa |
| CLTCclathrin heavy chain | Joskus (5–29%) | 1 sairaudessa |
| CMPK2cytidine/uridine monophosphate kinase 2 | Joskus (5–29%) | 1 sairaudessa |
| COL4A1collagen type IV alpha 1 chain | Joskus (5–29%) | 1 sairaudessa |
| COPB1coat protein complex I subunit beta 1 | Joskus (5–29%) | 1 sairaudessa |
| CUX2cut like homeobox 2 | Joskus (5–29%) | 1 sairaudessa |
| CYP2U1cytochrome P450 family 2 subfamily U member 1 | Joskus (5–29%) | 2 sairaudessa |
| DCTN1dynactin subunit 1 | Joskus (5–29%) | 1 sairaudessa |
| DHX30DExH-box helicase 30 | Joskus (5–29%) | 1 sairaudessa |
| DNAJC13DnaJ heat shock protein family (Hsp40) member C13 | Joskus (5–29%) | 1 sairaudessa |
| DNM1Ldynamin 1L | Joskus (5–29%) | 1 sairaudessa |
| EIF4G1eukaryotic translation initiation factor 4 gamma 1 | Joskus (5–29%) | 1 sairaudessa |
| EMC1ER membrane protein complex subunit 1 | Joskus (5–29%) | 1 sairaudessa |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Joskus (5–29%) | 1 sairaudessa |
| FBXL4F-box and leucine rich repeat protein 4 | Joskus (5–29%) | 1 sairaudessa |
| FHfumarate hydratase | Joskus (5–29%) | 1 sairaudessa |
| FLVCR1FLVCR choline and heme transporter 1 | Joskus (5–29%) | 1 sairaudessa |
| FRMD5FERM domain containing 5 | Joskus (5–29%) | 1 sairaudessa |
| FXNfrataxin | Joskus (5–29%) | 1 sairaudessa |
| GAD1glutamate decarboxylase 1 | Joskus (5–29%) | 1 sairaudessa |
| GALTgalactose-1-phosphate uridylyltransferase | Joskus (5–29%) | 1 sairaudessa |
| GAMTguanidinoacetate N-methyltransferase | Joskus (5–29%) | 1 sairaudessa |
| GFM1G elongation factor mitochondrial 1 | Joskus (5–29%) | 1 sairaudessa |
| GIGYF2GRB10 interacting GYF protein 2 | Joskus (5–29%) | 1 sairaudessa |
| GNAO1G protein subunit alpha o1 | Joskus (5–29%) | 3 sairaudessa |
| GNB1G protein subunit beta 1 | Joskus (5–29%) | 1 sairaudessa |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Joskus (5–29%) | 1 sairaudessa |
| H4C5H4 clustered histone 5 | Joskus (5–29%) | 1 sairaudessa |
| HEPACAMhepatic and glial cell adhesion molecule | Joskus (5–29%) | 1 sairaudessa |
| HEXBhexosaminidase subunit beta | Joskus (5–29%) | 1 sairaudessa |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Joskus (5–29%) | 1 sairaudessa |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Joskus (5–29%) | 1 sairaudessa |
| HTRA2HtrA serine peptidase 2 | Joskus (5–29%) | 2 sairaudessa |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Joskus (5–29%) | 1 sairaudessa |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Joskus (5–29%) | 1 sairaudessa |
| ISCA2iron-sulfur cluster assembly 2 | Joskus (5–29%) | 1 sairaudessa |
| JAM2junctional adhesion molecule 2 | Joskus (5–29%) | 2 sairaudessa |
| JPH3junctophilin 3 | Joskus (5–29%) | 2 sairaudessa |
| KAT6Alysine acetyltransferase 6A | Joskus (5–29%) | 2 sairaudessa |
| KCNMA1potassium calcium-activated channel subfamily M alpha 1 | Joskus (5–29%) | 1 sairaudessa |
| KDM6Blysine demethylase 6B | Joskus (5–29%) | 1 sairaudessa |
| KICS2KICSTOR subunit 2 | Joskus (5–29%) | 1 sairaudessa |
| KLHL20kelch like family member 20 | Joskus (5–29%) | 1 sairaudessa |
| LONP1lon peptidase 1, mitochondrial | Joskus (5–29%) | 1 sairaudessa |
| LRPPRCleucine rich pentatricopeptide repeat containing | Joskus (5–29%) | 1 sairaudessa |
| LRRK2leucine rich repeat kinase 2 | Joskus (5–29%) | 2 sairaudessa |
| MLC1modulator of VRAC current 1 | Joskus (5–29%) | 1 sairaudessa |
| MOGSmannosyl-oligosaccharide glucosidase | Joskus (5–29%) | 1 sairaudessa |
| MRPS34mitochondrial ribosomal protein S34 | Joskus (5–29%) | 1 sairaudessa |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Joskus (5–29%) | 1 sairaudessa |
| MTO1mitochondrial tRNA translation optimization 1 | Joskus (5–29%) | 1 sairaudessa |
| MYORGmyogenesis regulating glycosidase | Joskus (5–29%) | 3 sairaudessa |
| NAXDNAD(P)HX dehydratase | Joskus (5–29%) | 2 sairaudessa |
| NBEAneurobeachin | Joskus (5–29%) | 1 sairaudessa |
| NGLY1N-glycanase 1 | Joskus (5–29%) | 1 sairaudessa |
| NKX2-1NK2 homeobox 1 | Joskus (5–29%) | 2 sairaudessa |
| OFD1OFD1 centriole and centriolar satellite protein | Joskus (5–29%) | 1 sairaudessa |
| PARK7Parkinsonism associated deglycase | Joskus (5–29%) | 1 sairaudessa |
| PDGFBplatelet derived growth factor subunit B | Joskus (5–29%) | 2 sairaudessa |
| PDGFRBplatelet derived growth factor receptor beta | Joskus (5–29%) | 2 sairaudessa |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Joskus (5–29%) | 2 sairaudessa |
| PGBD5piggyBac transposable element derived 5 | Joskus (5–29%) | 1 sairaudessa |
| PIK3R5phosphoinositide-3-kinase regulatory subunit 5 | Joskus (5–29%) | 1 sairaudessa |
| PINK1PTEN induced kinase 1 | Joskus (5–29%) | 2 sairaudessa |
| PPFIBP1PPFIB scaffold protein 1 | Joskus (5–29%) | 1 sairaudessa |
| PRKNparkin RBR E3 ubiquitin protein ligase | Joskus (5–29%) | 2 sairaudessa |
| PTS6-pyruvoyltetrahydropterin synthase | Joskus (5–29%) | 2 sairaudessa |
| PURApurine rich element binding protein A | Joskus (5–29%) | 1 sairaudessa |
| RFX7regulatory factor X7 | Joskus (5–29%) | 1 sairaudessa |
| RNASET2ribonuclease T2 | Joskus (5–29%) | 1 sairaudessa |
| SETXsenataxin | Joskus (5–29%) | 2 sairaudessa |
| SH2B1SH2B adaptor protein 1 | Joskus (5–29%) | 1 sairaudessa |
| SLC13A5solute carrier family 13 member 5 | Joskus (5–29%) | 1 sairaudessa |
| SLC20A2solute carrier family 20 member 2 | Joskus (5–29%) | 2 sairaudessa |
| SLC32A1solute carrier family 32 member 1 | Joskus (5–29%) | 2 sairaudessa |
| SLC39A8solute carrier family 39 member 8 | Joskus (5–29%) | 1 sairaudessa |
| SLITRK2SLIT and NTRK like family member 2 | Joskus (5–29%) | 1 sairaudessa |
| SNORD118small nucleolar RNA, C/D box 118 | Joskus (5–29%) | 2 sairaudessa |
| SPOPspeckle type BTB/POZ protein | Joskus (5–29%) | 1 sairaudessa |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Joskus (5–29%) | 1 sairaudessa |
| SPTBN1spectrin beta, non-erythrocytic 1 | Joskus (5–29%) | 1 sairaudessa |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Joskus (5–29%) | 1 sairaudessa |
| SYT1synaptotagmin 1 | Joskus (5–29%) | 2 sairaudessa |
| TAF1TATA-box binding protein associated factor 1 | Joskus (5–29%) | 2 sairaudessa |
| TANGO2transport and golgi organization 2 homolog | Joskus (5–29%) | 2 sairaudessa |
| TMEM163transmembrane protein 163 | Joskus (5–29%) | 1 sairaudessa |
| TMEM240transmembrane protein 240 | Joskus (5–29%) | 1 sairaudessa |
| TMEM67transmembrane protein 67 | Joskus (5–29%) | 1 sairaudessa |
| TUBB3tubulin beta 3 class III | Joskus (5–29%) | 1 sairaudessa |
| UCHL1ubiquitin C-terminal hydrolase L1 | Joskus (5–29%) | 1 sairaudessa |
| UGDHUDP-glucose 6-dehydrogenase | Joskus (5–29%) | 1 sairaudessa |
| UPB1beta-ureidopropionase 1 | Joskus (5–29%) | 1 sairaudessa |
| VAMP1vesicle associated membrane protein 1 | Joskus (5–29%) | 2 sairaudessa |
| VAMP2vesicle associated membrane protein 2 | Joskus (5–29%) | 1 sairaudessa |
| VPS13Cvacuolar protein sorting 13 homolog C | Joskus (5–29%) | 1 sairaudessa |
| VPS35VPS35 retromer complex component | Joskus (5–29%) | 1 sairaudessa |
| VPS37AVPS37A subunit of ESCRT-I | Joskus (5–29%) | 1 sairaudessa |
| WDR83OSWD repeat domain 83 opposite strand | Joskus (5–29%) | 1 sairaudessa |
| XPR1xenotropic and polytropic retrovirus receptor 1 | Joskus (5–29%) | 2 sairaudessa |
| YY1YY1 transcription factor | Joskus (5–29%) | 2 sairaudessa |
| ARXaristaless related homeobox | Harvinainen (1–4 %) | 2 sairaudessa |
| COQ8Acoenzyme Q8A | Harvinainen (1–4 %) | 1 sairaudessa |
| CTCFCCCTC-binding factor | Harvinainen (1–4 %) | 1 sairaudessa |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Harvinainen (1–4 %) | 1 sairaudessa |
| GLE1GLE1 RNA export mediator | Harvinainen (1–4 %) | 1 sairaudessa |
| GRIA2glutamate ionotropic receptor AMPA type subunit 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| GRM7glutamate metabotropic receptor 7 | Harvinainen (1–4 %) | 1 sairaudessa |
| LGI1leucine rich glioma inactivated 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| NEUROD2neuronal differentiation 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Harvinainen (1–4 %) | 1 sairaudessa |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Harvinainen (1–4 %) | 1 sairaudessa |
| RNU4-2RNA, U4 small nuclear 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| SIK1salt inducible kinase 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| SLC25A22solute carrier family 25 member 22 | Harvinainen (1–4 %) | 1 sairaudessa |
| SPRED1sprouty related EVH1 domain containing 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| STXBP1syntaxin binding protein 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| TBCDtubulin folding cofactor D | Harvinainen (1–4 %) | 1 sairaudessa |
| TRIM8tripartite motif containing 8 | Harvinainen (1–4 %) | 1 sairaudessa |
| TTBK2tau tubulin kinase 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| ACOX1acyl-CoA oxidase 1 | Ei kirjattu | 1 sairaudessa |
| ADH1Calcohol dehydrogenase 1C (class I), gamma polypeptide | Ei kirjattu | 1 sairaudessa |
| APOEapolipoprotein E | Ei kirjattu | 1 sairaudessa |
| ATMATM serine/threonine kinase | Ei kirjattu | 1 sairaudessa |
| ATP5MC3ATP synthase membrane subunit c locus 3 | Ei kirjattu | 1 sairaudessa |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Ei kirjattu | 1 sairaudessa |
| C19orf12chromosome 19 open reading frame 12 | Ei kirjattu | 1 sairaudessa |
| CHMP2Bcharged multivesicular body protein 2B | Ei kirjattu | 1 sairaudessa |
| CHRNA2cholinergic receptor nicotinic alpha 2 subunit | Ei kirjattu | 1 sairaudessa |
| CKAP2Lcytoskeleton associated protein 2L | Ei kirjattu | 1 sairaudessa |
| CNTNAP1contactin associated protein 1 | Ei kirjattu | 1 sairaudessa |
| CTC1CST telomere replication complex component 1 | Ei kirjattu | 1 sairaudessa |
| DEGS1delta 4-desaturase, sphingolipid 1 | Ei kirjattu | 1 sairaudessa |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Ei kirjattu | 1 sairaudessa |
| EARS2glutamyl-tRNA synthetase 2, mitochondrial | Ei kirjattu | 1 sairaudessa |
| ECHS1enoyl-CoA hydratase, short chain 1 | Ei kirjattu | 1 sairaudessa |
| FOXG1forkhead box G1 | Ei kirjattu | 1 sairaudessa |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Ei kirjattu | 1 sairaudessa |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Ei kirjattu | 1 sairaudessa |
| GJC2gap junction protein gamma 2 | Ei kirjattu | 1 sairaudessa |
| GLB1galactosidase beta 1 | Ei kirjattu | 1 sairaudessa |
| IREB2iron responsive element binding protein 2 | Ei kirjattu | 1 sairaudessa |
| MAT1Amethionine adenosyltransferase 1A | Ei kirjattu | 1 sairaudessa |
| MCOLN1mucolipin TRP cation channel 1 | Ei kirjattu | 1 sairaudessa |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Ei kirjattu | 1 sairaudessa |
| MT-CYBmitochondrially encoded cytochrome b | Ei kirjattu | 1 sairaudessa |
| MT-ND4Lmitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L | Ei kirjattu | 1 sairaudessa |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Ei kirjattu | 1 sairaudessa |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Ei kirjattu | 1 sairaudessa |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Ei kirjattu | 1 sairaudessa |
| NPC1NPC intracellular cholesterol transporter 1 | Ei kirjattu | 1 sairaudessa |
| NPC2NPC intracellular cholesterol transporter 2 | Ei kirjattu | 1 sairaudessa |
| PCCApropionyl-CoA carboxylase subunit alpha | Ei kirjattu | 1 sairaudessa |
| PCCBpropionyl-CoA carboxylase subunit beta | Ei kirjattu | 1 sairaudessa |
| PDHXpyruvate dehydrogenase complex component X | Ei kirjattu | 1 sairaudessa |
| PSEN1presenilin 1 | Ei kirjattu | 1 sairaudessa |
| QDPRquinoid dihydropteridine reductase | Ei kirjattu | 1 sairaudessa |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Ei kirjattu | 1 sairaudessa |
| SLC25A42solute carrier family 25 member 42 | Ei kirjattu | 1 sairaudessa |
| SNCAIPsynuclein alpha interacting protein | Ei kirjattu | 1 sairaudessa |
| SURF1SURF1 cytochrome c oxidase assembly factor | Ei kirjattu | 1 sairaudessa |
| TMEM106Btransmembrane protein 106B | Ei kirjattu | 1 sairaudessa |
| TPI1triosephosphate isomerase 1 | Ei kirjattu | 1 sairaudessa |
| TRAPPC11trafficking protein particle complex subunit 11 | Ei kirjattu | 1 sairaudessa |
| TRIT1tRNA isopentenyltransferase 1 | Ei kirjattu | 1 sairaudessa |
| TSEN34tRNA splicing endonuclease subunit 34 | Ei kirjattu | 1 sairaudessa |
| TSFMTs translation elongation factor, mitochondrial | Ei kirjattu | 1 sairaudessa |
| TXN2thioredoxin 2 | Ei kirjattu | 1 sairaudessa |
| UFM1ubiquitin fold modifier 1 | Ei kirjattu | 1 sairaudessa |
| VCPvalosin containing protein | Ei kirjattu | 1 sairaudessa |
| VPS13Avacuolar protein sorting 13 homolog A | Ei kirjattu | 1 sairaudessa |
| VPS13Dvacuolar protein sorting 13 homolog D | Ei kirjattu | 1 sairaudessa |
| ZC4H2zinc finger C4H2-type containing | Ei kirjattu | 1 sairaudessa |
Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.
Tarkemmat piirteet
Laajemmat piirteet
Mistä tämä tieto tulee
- Human Phenotype Ontology, julkaisu 2026-09-01: piirre, sen nimet, määritelmä ja siihen liitetyt geenit. Lue lisää osoitteesta hpo.jax.org.
- Tietojulkaisu 2026.10.16-c6eea6bf.
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