Træk
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.
Resumé
- Også kaldet
- Dystonic movements
- Kropssystem
- Abnormality of the nervous system
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Ændringer i disse gener forårsager sjældne tilstande, hvor Dystonia 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 |
|---|---|---|
| ACER3alkaline ceramidase 3 | Altid | I 1 tilstand |
| ADCY5adenylate cyclase 5 | Altid | I 4 tilstande |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Altid | I 5 tilstande |
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Altid | I 1 tilstand |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Altid | I 1 tilstand |
| ARV1ARV1 fatty acid homeostasis modulator | Altid | I 1 tilstand |
| ATP5POATP synthase peripheral stalk subunit OSCP | Altid | I 2 tilstande |
| BCAP31B cell receptor associated protein 31 | Altid | I 2 tilstande |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Altid | I 1 tilstand |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Altid | I 1 tilstand |
| CLCN4Cl-/H+ antiporter 4 | Altid | I 1 tilstand |
| COASYCoenzyme A synthase | Altid | I 1 tilstand |
| COQ4coenzyme Q4 | Altid | I 1 tilstand |
| COQ9coenzyme Q9 | Altid | I 1 tilstand |
| CWF19L1CWF19 like cell cycle control factor 1 | Altid | I 2 tilstande |
| DALRD3DALR anticodon binding domain containing 3 | Altid | I 1 tilstand |
| DLDdihydrolipoamide dehydrogenase | Altid | I 1 tilstand |
| DLG5discs large MAGUK scaffold protein 5 | Altid | I 1 tilstand |
| DMXL2Dmx like 2 | Altid | I 3 tilstande |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Altid | I 2 tilstande |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Altid | I 1 tilstand |
| ESAMendothelial cell adhesion molecule | Altid | I 1 tilstand |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Altid | I 1 tilstand |
| FDXRferredoxin reductase | Altid | I 1 tilstand |
| FUCA1alpha-L-fucosidase 1 | Altid | I 1 tilstand |
| GCH1GTP cyclohydrolase 1 | Altid | I 2 tilstande |
| GCSHglycine cleavage system protein H | Altid | I 1 tilstand |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Altid | I 4 tilstande |
| GSX2GS homeobox 2 | Altid | I 1 tilstand |
| GTF3C3general transcription factor IIIC subunit 3 | Altid | I 1 tilstand |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Altid | I 1 tilstand |
| HTThuntingtin | Altid | I 3 tilstande |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Altid | I 1 tilstand |
| KARS1lysyl-tRNA synthetase 1 | Altid | I 2 tilstande |
| KCNA4potassium voltage-gated channel subfamily A member 4 | Altid | I 1 tilstand |
| KCNN2potassium calcium-activated channel subfamily N member 2 | Altid | I 2 tilstande |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Altid | I 3 tilstande |
| KMT2Blysine methyltransferase 2B | Altid | I 1 tilstand |
| LIPT1lipoyltransferase 1 | Altid | I 1 tilstand |
| LRRC7leucine rich repeat containing 7 | Altid | I 1 tilstand |
Vis 415 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| MECP2methyl-CpG binding protein 2 | Altid | I 4 tilstande |
| MMADHCmetabolism of cobalamin associated D | Altid | I 2 tilstande |
| MRE11MRE11 double strand break repair nuclease | Altid | I 2 tilstande |
| NADK2NAD kinase 2, mitochondrial | Altid | I 2 tilstande |
| NAV3neuron navigator 3 | Altid | I 1 tilstand |
| NDUFA12NADH:ubiquinone oxidoreductase subunit A12 | Altid | I 1 tilstand |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Altid | I 1 tilstand |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Altid | I 1 tilstand |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Altid | I 1 tilstand |
| NDUFAF6NADH:ubiquinone oxidoreductase complex assembly factor 6 | Altid | I 1 tilstand |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Altid | I 1 tilstand |
| NKX6-2NK6 homeobox 2 | Altid | I 2 tilstande |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Altid | I 2 tilstande |
| OGDHoxoglutarate dehydrogenase | Altid | I 1 tilstand |
| PCDH12protocadherin 12 | Altid | I 1 tilstand |
| PDE2Aphosphodiesterase 2A | Altid | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Altid | I 1 tilstand |
| PLA2G6phospholipase A2 group VI | Altid | I 4 tilstande |
| PNPLA8patatin like domain 8, phospholipase A2 | Altid | I 1 tilstand |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Altid | I 1 tilstand |
| POLGDNA polymerase gamma, catalytic subunit | Altid | I 2 tilstande |
| POLR1ARNA polymerase I subunit A | Altid | I 1 tilstand |
| POLR3BRNA polymerase III subunit B | Altid | I 2 tilstande |
| POLR3KRNA polymerase III subunit K | Altid | I 1 tilstand |
| RAB32RAB32, member RAS oncogene family | Altid | I 1 tilstand |
| RFC4replication factor C subunit 4 | Altid | I 1 tilstand |
| RNU2-2RNA, U2 small nuclear 2 | Altid | I 1 tilstand |
| RPS6KC1ribosomal protein S6 kinase C1 | Altid | I 1 tilstand |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Altid | I 4 tilstande |
| SCP2sterol carrier protein 2 | Altid | I 1 tilstand |
| SDHDsuccinate dehydrogenase complex subunit D | Altid | I 1 tilstand |
| SERAC1serine active site containing 1 | Altid | I 2 tilstande |
| SHQ1SHQ1, H/ACA ribonucleoprotein assembly factor | Altid | I 2 tilstande |
| SLC18A2solute carrier family 18 member A2 | Altid | I 2 tilstande |
| SLC19A3solute carrier family 19 member 3 | Altid | I 2 tilstande |
| SLC30A9solute carrier family 30 member 9 | Altid | I 1 tilstand |
| SLC39A14solute carrier family 39 member 14 | Altid | I 2 tilstande |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Altid | I 1 tilstand |
| SYNJ1synaptojanin 1 | Altid | I 4 tilstande |
| TGIF1TGFB induced factor homeobox 1 | Altid | I 1 tilstand |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Altid | I 2 tilstande |
| TOR1Atorsin family 1 member A | Altid | I 2 tilstande |
| TRAPPC12trafficking protein particle complex subunit 12 | Altid | I 2 tilstande |
| TREX1three prime repair exonuclease 1 | Altid | I 2 tilstande |
| TTPAalpha tocopherol transfer protein | Altid | I 2 tilstande |
| UBA5ubiquitin like modifier activating enzyme 5 | Altid | I 1 tilstand |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Altid | I 1 tilstand |
| UQCRQubiquinol-cytochrome c reductase complex III subunit VII | Altid | I 1 tilstand |
| VAC14VAC14 component of PIKFYVE complex | Altid | I 1 tilstand |
| VPS16VPS16 core subunit of CORVET and HOPS complexes | Altid | I 1 tilstand |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Altid | I 3 tilstande |
| WDR45WD repeat domain 45 | Altid | I 2 tilstande |
| ATXN3ataxin 3 | Meget ofte (80–99 %) | I 5 tilstande |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Meget ofte (80–99 %) | I 1 tilstand |
| DCAF17DDB1 and CUL4 associated factor 17 | Meget ofte (80–99 %) | I 2 tilstande |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Meget ofte (80–99 %) | I 3 tilstande |
| DRD2dopamine receptor D2 | Meget ofte (80–99 %) | I 1 tilstand |
| FTLferritin light chain | Meget ofte (80–99 %) | I 2 tilstande |
| GBA1glucosylceramidase beta 1 | Meget ofte (80–99 %) | I 3 tilstande |
| GM2Aganglioside GM2 activator | Meget ofte (80–99 %) | I 2 tilstande |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Meget ofte (80–99 %) | I 2 tilstande |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Meget ofte (80–99 %) | I 2 tilstande |
| KCNJ10potassium inwardly rectifying channel subfamily J member 10 | Meget ofte (80–99 %) | I 1 tilstand |
| KCTD17potassium channel tetramerization domain containing 17 | Meget ofte (80–99 %) | I 2 tilstande |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Meget ofte (80–99 %) | I 2 tilstande |
| MED27mediator complex subunit 27 | Meget ofte (80–99 %) | I 1 tilstand |
| MLYCDmalonyl-CoA decarboxylase | Meget ofte (80–99 %) | I 1 tilstand |
| MPV17mitochondrial inner membrane protein MPV17 | Meget ofte (80–99 %) | I 1 tilstand |
| PANK2pantothenate kinase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| PLP1proteolipid protein 1 | Meget ofte (80–99 %) | I 2 tilstande |
| PNKDPNKD metallo-beta-lactamase domain containing | Meget ofte (80–99 %) | I 1 tilstand |
| PODXLpodocalyxin like | Meget ofte (80–99 %) | I 2 tilstande |
| PRRT2proline rich transmembrane protein 2 | Meget ofte (80–99 %) | I 4 tilstande |
| PSAPprosaposin | Meget ofte (80–99 %) | I 4 tilstande |
| SGCEsarcoglycan epsilon | Meget ofte (80–99 %) | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Meget ofte (80–99 %) | I 7 tilstande |
| SLC30A10solute carrier family 30 member 10 | Meget ofte (80–99 %) | I 2 tilstande |
| SLC6A3solute carrier family 6 member 3 | Meget ofte (80–99 %) | I 2 tilstande |
| TBC1D24TBC1 domain family member 24 | Meget ofte (80–99 %) | I 2 tilstande |
| THAP1THAP domain containing 1 | Meget ofte (80–99 %) | I 1 tilstand |
| TMEM151Atransmembrane protein 151A | Meget ofte (80–99 %) | I 1 tilstand |
| TSEN54tRNA splicing endonuclease subunit 54 | Meget ofte (80–99 %) | I 1 tilstand |
| TUBB4Atubulin beta 4A class IVa | Meget ofte (80–99 %) | I 1 tilstand |
| VPS4Avacuolar protein sorting 4 homolog A | Meget ofte (80–99 %) | I 1 tilstand |
| AARS1alanyl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| ACBD6acyl-CoA binding domain containing 6 | Ofte (30–79 %) | I 1 tilstand |
| ADARadenosine deaminase RNA specific | Ofte (30–79 %) | I 3 tilstande |
| AFG2BAAA ATPase AFG2B | Ofte (30–79 %) | I 1 tilstand |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Ofte (30–79 %) | I 1 tilstand |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Ofte (30–79 %) | I 1 tilstand |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Ofte (30–79 %) | I 2 tilstande |
| AMPD2adenosine monophosphate deaminase 2 | Ofte (30–79 %) | I 1 tilstand |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Ofte (30–79 %) | I 2 tilstande |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Ofte (30–79 %) | I 1 tilstand |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Ofte (30–79 %) | I 1 tilstand |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Ofte (30–79 %) | I 1 tilstand |
| APTXaprataxin | Ofte (30–79 %) | I 1 tilstand |
| AQP4aquaporin 4 | Ofte (30–79 %) | I 2 tilstande |
| ARSAarylsulfatase A | Ofte (30–79 %) | I 4 tilstande |
| ATCAYATCAY kinesin light chain interacting caytaxin | Ofte (30–79 %) | I 1 tilstand |
| ATP13A2ATPase cation transporting 13A2 | Ofte (30–79 %) | I 4 tilstande |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Ofte (30–79 %) | I 2 tilstande |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Ofte (30–79 %) | I 5 tilstande |
| ATP5F1AATP synthase F1 subunit alpha | Ofte (30–79 %) | I 2 tilstande |
| ATP7BATPase copper transporting beta | Ofte (30–79 %) | I 2 tilstande |
| ATXN1ataxin 1 | Ofte (30–79 %) | I 1 tilstand |
| ATXN2ataxin 2 | Ofte (30–79 %) | I 2 tilstande |
| ATXN8ataxin 8 | Ofte (30–79 %) | I 1 tilstand |
| ATXN8OSATXN8 opposite strand lncRNA | Ofte (30–79 %) | I 2 tilstande |
| BORCS8BLOC-1 related complex subunit 8 | Ofte (30–79 %) | I 1 tilstand |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Ofte (30–79 %) | I 4 tilstande |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Ofte (30–79 %) | I 2 tilstande |
| CASKcalcium/calmodulin dependent serine protein kinase | Ofte (30–79 %) | I 2 tilstande |
| CDKL5cyclin dependent kinase like 5 | Ofte (30–79 %) | I 3 tilstande |
| COXFA4cytochrome c oxidase associated subunit FA4 | Ofte (30–79 %) | I 1 tilstand |
| CPceruloplasmin | Ofte (30–79 %) | I 1 tilstand |
| CRLS1cardiolipin synthase 1 | Ofte (30–79 %) | I 1 tilstand |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Ofte (30–79 %) | I 1 tilstand |
| DDCdopa decarboxylase | Ofte (30–79 %) | I 1 tilstand |
| DLATdihydrolipoamide S-acetyltransferase | Ofte (30–79 %) | I 1 tilstand |
| DNAJC12DnaJ heat shock protein family (Hsp40) member C12 | Ofte (30–79 %) | I 1 tilstand |
| ECM1extracellular matrix protein 1 | Ofte (30–79 %) | I 1 tilstand |
| ERLIN1ER lipid raft associated 1 | Ofte (30–79 %) | I 1 tilstand |
| FA2Hfatty acid 2-hydroxylase | Ofte (30–79 %) | I 1 tilstand |
| FBLN1fibulin 1 | Ofte (30–79 %) | I 1 tilstand |
| FBXO7F-box protein 7 | Ofte (30–79 %) | I 2 tilstande |
| FTH1ferritin heavy chain 1 | Ofte (30–79 %) | I 1 tilstand |
| FUSFUS RNA binding protein | Ofte (30–79 %) | I 1 tilstand |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Ofte (30–79 %) | I 2 tilstande |
| GCDHglutaryl-CoA dehydrogenase | Ofte (30–79 %) | I 2 tilstande |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Ofte (30–79 %) | I 1 tilstand |
| GPRC5BG protein-coupled receptor class C group 5 member B | Ofte (30–79 %) | I 2 tilstande |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Ofte (30–79 %) | I 2 tilstande |
| GTPBP2GTP binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Ofte (30–79 %) | I 2 tilstande |
| HIVEP2HIVEP zinc finger 2 | Ofte (30–79 %) | I 1 tilstand |
| HPRT1hypoxanthine phosphoribosyltransferase 1 | Ofte (30–79 %) | I 2 tilstande |
| IFIH1interferon induced with helicase C domain 1 | Ofte (30–79 %) | I 2 tilstande |
| IRF2BPLinterferon regulatory factor 2 binding protein like | Ofte (30–79 %) | I 1 tilstand |
| KCNQ3potassium voltage-gated channel subfamily Q member 3 | Ofte (30–79 %) | I 1 tilstand |
| LIPT2lipoyl(octanoyl) transferase 2 | Ofte (30–79 %) | I 1 tilstand |
| LSM11LSM11, U7 small nuclear RNA associated | Ofte (30–79 %) | I 1 tilstand |
| MAPTmicrotubule associated protein tau | Ofte (30–79 %) | I 3 tilstande |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 2 tilstande |
| MDH2malate dehydrogenase 2 | Ofte (30–79 %) | I 1 tilstand |
| MED23mediator complex subunit 23 | Ofte (30–79 %) | I 1 tilstand |
| MICU1mitochondrial calcium uptake 1 | Ofte (30–79 %) | I 2 tilstande |
| MMUTmethylmalonyl-CoA mutase | Ofte (30–79 %) | I 2 tilstande |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Ofte (30–79 %) | I 4 tilstande |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Ofte (30–79 %) | I 2 tilstande |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Ofte (30–79 %) | I 2 tilstande |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Ofte (30–79 %) | I 1 tilstand |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Ofte (30–79 %) | I 2 tilstande |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Ofte (30–79 %) | I 2 tilstande |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Ofte (30–79 %) | I 2 tilstande |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Ofte (30–79 %) | I 1 tilstand |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Ofte (30–79 %) | I 1 tilstand |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Ofte (30–79 %) | I 1 tilstand |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Ofte (30–79 %) | I 1 tilstand |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Ofte (30–79 %) | I 1 tilstand |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Ofte (30–79 %) | I 3 tilstande |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Ofte (30–79 %) | I 1 tilstand |
| NIT1nitrilase 1 | Ofte (30–79 %) | I 1 tilstand |
| NTNG1netrin G1 | Ofte (30–79 %) | I 1 tilstand |
| NUP54nucleoporin 54 | Ofte (30–79 %) | I 1 tilstand |
| NUP62nucleoporin 62 | Ofte (30–79 %) | I 2 tilstande |
| OCLNoccludin | Ofte (30–79 %) | I 1 tilstand |
| PI4KAphosphatidylinositol 4-kinase alpha | Ofte (30–79 %) | I 1 tilstand |
| PLAAphospholipase A2 activating protein | Ofte (30–79 %) | I 1 tilstand |
| PLEKHG2pleckstrin homology and RhoGEF domain containing G2 | Ofte (30–79 %) | I 1 tilstand |
| PMPCBpeptidase, mitochondrial processing subunit beta | Ofte (30–79 %) | I 1 tilstand |
| PNKPpolynucleotide kinase 3'-phosphatase | Ofte (30–79 %) | I 3 tilstande |
| POLR3ARNA polymerase III subunit A | Ofte (30–79 %) | I 2 tilstande |
| PPIL1peptidylprolyl isomerase like 1 | Ofte (30–79 %) | I 1 tilstand |
| RAB11BRAB11B, member RAS oncogene family | Ofte (30–79 %) | I 1 tilstand |
| RARS1arginyl-tRNA synthetase 1 | Ofte (30–79 %) | I 2 tilstande |
| REPS1RALBP1 associated Eps domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| RHOBTB2Rho related BTB domain containing 2 | Ofte (30–79 %) | I 3 tilstande |
| RNASEH2Aribonuclease H2 subunit A | Ofte (30–79 %) | I 2 tilstande |
| RNASEH2Bribonuclease H2 subunit B | Ofte (30–79 %) | I 2 tilstande |
| RNASEH2Cribonuclease H2 subunit C | Ofte (30–79 %) | I 2 tilstande |
| RNU7-1RNA, U7 small nuclear 1 | Ofte (30–79 %) | I 2 tilstande |
| RRP12ribosomal RNA processing 12 homolog | Ofte (30–79 %) | I 2 tilstande |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Ofte (30–79 %) | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Ofte (30–79 %) | I 1 tilstand |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Ofte (30–79 %) | I 1 tilstand |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Ofte (30–79 %) | I 1 tilstand |
| SIGMAR1sigma receptor chaperone 1 | Ofte (30–79 %) | I 1 tilstand |
| SLC16A2solute carrier family 16 member 2 | Ofte (30–79 %) | I 1 tilstand |
| SLC1A3solute carrier family 1 member 3 | Ofte (30–79 %) | I 1 tilstand |
| SLC2A3solute carrier family 2 member 3 | Ofte (30–79 %) | I 1 tilstand |
| SLC44A1solute carrier family 44 member 1 | Ofte (30–79 %) | I 1 tilstand |
| SLC6A8solute carrier family 6 member 8 | Ofte (30–79 %) | I 2 tilstande |
| SMC1Astructural maintenance of chromosomes 1A | Ofte (30–79 %) | I 1 tilstand |
| SNAPC4small nuclear RNA activating complex polypeptide 4 | Ofte (30–79 %) | I 1 tilstand |
| SNCAsynuclein alpha | Ofte (30–79 %) | I 4 tilstande |
| SORDsorbitol dehydrogenase | Ofte (30–79 %) | I 1 tilstand |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Ofte (30–79 %) | I 1 tilstand |
| SPRsepiapterin reductase | Ofte (30–79 %) | I 2 tilstande |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| SPTSSAserine palmitoyltransferase small subunit A | Ofte (30–79 %) | I 1 tilstand |
| SQSTM1sequestosome 1 | Ofte (30–79 %) | I 1 tilstand |
| STN1STN1 subunit of CST complex | Ofte (30–79 %) | I 1 tilstand |
| STUB1STIP1 homology and U-box containing protein 1 | Ofte (30–79 %) | I 1 tilstand |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Ofte (30–79 %) | I 1 tilstand |
| TARDBPTAR DNA binding protein | Ofte (30–79 %) | I 1 tilstand |
| TBPTATA-box binding protein | Ofte (30–79 %) | I 3 tilstande |
| TM2D3TM2 domain containing 3 | Ofte (30–79 %) | I 1 tilstand |
| TNRtenascin R | Ofte (30–79 %) | I 1 tilstand |
| TPK1thiamin pyrophosphokinase 1 | Ofte (30–79 %) | I 1 tilstand |
| TRMT2BtRNA methyltransferase 2B | Ofte (30–79 %) | I 1 tilstand |
| TSEN2tRNA splicing endonuclease subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| TTC19tetratricopeptide repeat domain 19 | Ofte (30–79 %) | I 1 tilstand |
| UBQLN2ubiquilin 2 | Ofte (30–79 %) | I 2 tilstande |
| UBTFupstream binding transcription factor | Ofte (30–79 %) | I 2 tilstande |
| WDR73WD repeat domain 73 | Ofte (30–79 %) | I 1 tilstand |
| XKX-linked Kx blood group antigen, Kell and VPS13A binding protein | Ofte (30–79 %) | I 1 tilstand |
| ZNF142zinc finger protein 142 | Ofte (30–79 %) | I 1 tilstand |
| ABCD1ATP binding cassette subfamily D member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ACADSacyl-CoA dehydrogenase short chain | Nogle gange (5–29 %) | I 1 tilstand |
| ACSF3acyl-CoA synthetase family member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Nogle gange (5–29 %) | I 1 tilstand |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| ASLargininosuccinate lyase | Nogle gange (5–29 %) | I 1 tilstand |
| ATAD3AATPase family AAA domain containing 3A | Nogle gange (5–29 %) | I 1 tilstand |
| ATG7autophagy related 7 | Nogle gange (5–29 %) | I 1 tilstand |
| ATN1atrophin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ATP5F1DATP synthase F1 subunit delta | Nogle gange (5–29 %) | I 1 tilstand |
| ATP5F1EATP synthase F1 subunit epsilon | Nogle gange (5–29 %) | I 1 tilstand |
| ATP5MKATP synthase membrane subunit k | Nogle gange (5–29 %) | I 1 tilstand |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| AUHAU RNA binding methylglutaconyl-CoA hydratase | Nogle gange (5–29 %) | I 2 tilstande |
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Nogle gange (5–29 %) | I 2 tilstande |
| BCAS3BCAS3 microtubule associated cell migration factor | Nogle gange (5–29 %) | I 1 tilstand |
| BCKDKbranched chain keto acid dehydrogenase kinase | Nogle gange (5–29 %) | I 1 tilstand |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Nogle gange (5–29 %) | I 1 tilstand |
| CARS1cysteinyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CBScystathionine beta-synthase | Nogle gange (5–29 %) | I 1 tilstand |
| CDC40cell division cycle 40 | Nogle gange (5–29 %) | I 1 tilstand |
| CLPBClpB family mitochondrial disaggregase | Nogle gange (5–29 %) | I 1 tilstand |
| CLTCclathrin heavy chain | Nogle gange (5–29 %) | I 1 tilstand |
| CMPK2cytidine/uridine monophosphate kinase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| COL4A1collagen type IV alpha 1 chain | Nogle gange (5–29 %) | I 1 tilstand |
| COPB1coat protein complex I subunit beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CUX2cut like homeobox 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CYP2U1cytochrome P450 family 2 subfamily U member 1 | Nogle gange (5–29 %) | I 2 tilstande |
| DCTN1dynactin subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DHX30DExH-box helicase 30 | Nogle gange (5–29 %) | I 1 tilstand |
| DNAJC13DnaJ heat shock protein family (Hsp40) member C13 | Nogle gange (5–29 %) | I 1 tilstand |
| DNM1Ldynamin 1L | Nogle gange (5–29 %) | I 1 tilstand |
| EIF4G1eukaryotic translation initiation factor 4 gamma 1 | Nogle gange (5–29 %) | I 1 tilstand |
| EMC1ER membrane protein complex subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| FBXL4F-box and leucine rich repeat protein 4 | Nogle gange (5–29 %) | I 1 tilstand |
| FHfumarate hydratase | Nogle gange (5–29 %) | I 1 tilstand |
| FLVCR1FLVCR choline and heme transporter 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FRMD5FERM domain containing 5 | Nogle gange (5–29 %) | I 1 tilstand |
| FXNfrataxin | Nogle gange (5–29 %) | I 1 tilstand |
| GAD1glutamate decarboxylase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GALTgalactose-1-phosphate uridylyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| GAMTguanidinoacetate N-methyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| GFM1G elongation factor mitochondrial 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GIGYF2GRB10 interacting GYF protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GNAO1G protein subunit alpha o1 | Nogle gange (5–29 %) | I 3 tilstande |
| GNB1G protein subunit beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Nogle gange (5–29 %) | I 1 tilstand |
| H4C5H4 clustered histone 5 | Nogle gange (5–29 %) | I 1 tilstand |
| HEPACAMhepatic and glial cell adhesion molecule | Nogle gange (5–29 %) | I 1 tilstand |
| HEXBhexosaminidase subunit beta | Nogle gange (5–29 %) | I 1 tilstand |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Nogle gange (5–29 %) | I 1 tilstand |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Nogle gange (5–29 %) | I 1 tilstand |
| HTRA2HtrA serine peptidase 2 | Nogle gange (5–29 %) | I 2 tilstande |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Nogle gange (5–29 %) | I 1 tilstand |
| ISCA2iron-sulfur cluster assembly 2 | Nogle gange (5–29 %) | I 1 tilstand |
| JAM2junctional adhesion molecule 2 | Nogle gange (5–29 %) | I 2 tilstande |
| JPH3junctophilin 3 | Nogle gange (5–29 %) | I 2 tilstande |
| KAT6Alysine acetyltransferase 6A | Nogle gange (5–29 %) | I 2 tilstande |
| KCNMA1potassium calcium-activated channel subfamily M alpha 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KDM6Blysine demethylase 6B | Nogle gange (5–29 %) | I 1 tilstand |
| KICS2KICSTOR subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| KLHL20kelch like family member 20 | Nogle gange (5–29 %) | I 1 tilstand |
| LONP1lon peptidase 1, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| LRPPRCleucine rich pentatricopeptide repeat containing | Nogle gange (5–29 %) | I 1 tilstand |
| LRRK2leucine rich repeat kinase 2 | Nogle gange (5–29 %) | I 2 tilstande |
| MLC1modulator of VRAC current 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MOGSmannosyl-oligosaccharide glucosidase | Nogle gange (5–29 %) | I 1 tilstand |
| MRPS34mitochondrial ribosomal protein S34 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Nogle gange (5–29 %) | I 1 tilstand |
| MTO1mitochondrial tRNA translation optimization 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MYORGmyogenesis regulating glycosidase | Nogle gange (5–29 %) | I 3 tilstande |
| NAXDNAD(P)HX dehydratase | Nogle gange (5–29 %) | I 2 tilstande |
| NBEAneurobeachin | Nogle gange (5–29 %) | I 1 tilstand |
| NGLY1N-glycanase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NKX2-1NK2 homeobox 1 | Nogle gange (5–29 %) | I 2 tilstande |
| OFD1OFD1 centriole and centriolar satellite protein | Nogle gange (5–29 %) | I 1 tilstand |
| PARK7Parkinsonism associated deglycase | Nogle gange (5–29 %) | I 1 tilstand |
| PDGFBplatelet derived growth factor subunit B | Nogle gange (5–29 %) | I 2 tilstande |
| PDGFRBplatelet derived growth factor receptor beta | Nogle gange (5–29 %) | I 2 tilstande |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Nogle gange (5–29 %) | I 2 tilstande |
| PGBD5piggyBac transposable element derived 5 | Nogle gange (5–29 %) | I 1 tilstand |
| PIK3R5phosphoinositide-3-kinase regulatory subunit 5 | Nogle gange (5–29 %) | I 1 tilstand |
| PINK1PTEN induced kinase 1 | Nogle gange (5–29 %) | I 2 tilstande |
| PPFIBP1PPFIB scaffold protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PRKNparkin RBR E3 ubiquitin protein ligase | Nogle gange (5–29 %) | I 2 tilstande |
| PTS6-pyruvoyltetrahydropterin synthase | Nogle gange (5–29 %) | I 2 tilstande |
| PURApurine rich element binding protein A | Nogle gange (5–29 %) | I 1 tilstand |
| RFX7regulatory factor X7 | Nogle gange (5–29 %) | I 1 tilstand |
| RNASET2ribonuclease T2 | Nogle gange (5–29 %) | I 1 tilstand |
| SETXsenataxin | Nogle gange (5–29 %) | I 2 tilstande |
| SH2B1SH2B adaptor protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC13A5solute carrier family 13 member 5 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC20A2solute carrier family 20 member 2 | Nogle gange (5–29 %) | I 2 tilstande |
| SLC32A1solute carrier family 32 member 1 | Nogle gange (5–29 %) | I 2 tilstande |
| SLC39A8solute carrier family 39 member 8 | Nogle gange (5–29 %) | I 1 tilstand |
| SLITRK2SLIT and NTRK like family member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SNORD118small nucleolar RNA, C/D box 118 | Nogle gange (5–29 %) | I 2 tilstande |
| SPOPspeckle type BTB/POZ protein | Nogle gange (5–29 %) | I 1 tilstand |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SPTBN1spectrin beta, non-erythrocytic 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Nogle gange (5–29 %) | I 1 tilstand |
| SYT1synaptotagmin 1 | Nogle gange (5–29 %) | I 2 tilstande |
| TAF1TATA-box binding protein associated factor 1 | Nogle gange (5–29 %) | I 2 tilstande |
| TANGO2transport and golgi organization 2 homolog | Nogle gange (5–29 %) | I 2 tilstande |
| TMEM163transmembrane protein 163 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM240transmembrane protein 240 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM67transmembrane protein 67 | Nogle gange (5–29 %) | I 1 tilstand |
| TUBB3tubulin beta 3 class III | Nogle gange (5–29 %) | I 1 tilstand |
| UCHL1ubiquitin C-terminal hydrolase L1 | Nogle gange (5–29 %) | I 1 tilstand |
| UGDHUDP-glucose 6-dehydrogenase | Nogle gange (5–29 %) | I 1 tilstand |
| UPB1beta-ureidopropionase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| VAMP1vesicle associated membrane protein 1 | Nogle gange (5–29 %) | I 2 tilstande |
| VAMP2vesicle associated membrane protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| VPS13Cvacuolar protein sorting 13 homolog C | Nogle gange (5–29 %) | I 1 tilstand |
| VPS35VPS35 retromer complex component | Nogle gange (5–29 %) | I 1 tilstand |
| VPS37AVPS37A subunit of ESCRT-I | Nogle gange (5–29 %) | I 1 tilstand |
| WDR83OSWD repeat domain 83 opposite strand | Nogle gange (5–29 %) | I 1 tilstand |
| XPR1xenotropic and polytropic retrovirus receptor 1 | Nogle gange (5–29 %) | I 2 tilstande |
| YY1YY1 transcription factor | Nogle gange (5–29 %) | I 2 tilstande |
| ARXaristaless related homeobox | Sjældent (1–4%) | I 2 tilstande |
| COQ8Acoenzyme Q8A | Sjældent (1–4%) | I 1 tilstand |
| CTCFCCCTC-binding factor | Sjældent (1–4%) | I 1 tilstand |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Sjældent (1–4%) | I 1 tilstand |
| GLE1GLE1 RNA export mediator | Sjældent (1–4%) | I 1 tilstand |
| GRIA2glutamate ionotropic receptor AMPA type subunit 2 | Sjældent (1–4%) | I 1 tilstand |
| GRM7glutamate metabotropic receptor 7 | Sjældent (1–4%) | I 1 tilstand |
| LGI1leucine rich glioma inactivated 1 | Sjældent (1–4%) | I 1 tilstand |
| NEUROD2neuronal differentiation 2 | Sjældent (1–4%) | I 1 tilstand |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Sjældent (1–4%) | I 1 tilstand |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Sjældent (1–4%) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Sjældent (1–4%) | I 1 tilstand |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Sjældent (1–4%) | I 1 tilstand |
| SIK1salt inducible kinase 1 | Sjældent (1–4%) | I 1 tilstand |
| SLC25A22solute carrier family 25 member 22 | Sjældent (1–4%) | I 1 tilstand |
| SPRED1sprouty related EVH1 domain containing 1 | Sjældent (1–4%) | I 1 tilstand |
| STXBP1syntaxin binding protein 1 | Sjældent (1–4%) | I 1 tilstand |
| TBCDtubulin folding cofactor D | Sjældent (1–4%) | I 1 tilstand |
| TRIM8tripartite motif containing 8 | Sjældent (1–4%) | I 1 tilstand |
| TTBK2tau tubulin kinase 2 | Sjældent (1–4%) | I 1 tilstand |
| ACOX1acyl-CoA oxidase 1 | Ikke registreret | I 1 tilstand |
| ADH1Calcohol dehydrogenase 1C (class I), gamma polypeptide | Ikke registreret | I 1 tilstand |
| APOEapolipoprotein E | Ikke registreret | I 1 tilstand |
| ATMATM serine/threonine kinase | Ikke registreret | I 1 tilstand |
| ATP5MC3ATP synthase membrane subunit c locus 3 | Ikke registreret | I 1 tilstand |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Ikke registreret | I 1 tilstand |
| C19orf12chromosome 19 open reading frame 12 | Ikke registreret | I 1 tilstand |
| CHMP2Bcharged multivesicular body protein 2B | Ikke registreret | I 1 tilstand |
| CHRNA2cholinergic receptor nicotinic alpha 2 subunit | Ikke registreret | I 1 tilstand |
| CKAP2Lcytoskeleton associated protein 2L | Ikke registreret | I 1 tilstand |
| CNTNAP1contactin associated protein 1 | Ikke registreret | I 1 tilstand |
| CTC1CST telomere replication complex component 1 | Ikke registreret | I 1 tilstand |
| DEGS1delta 4-desaturase, sphingolipid 1 | Ikke registreret | I 1 tilstand |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Ikke registreret | I 1 tilstand |
| EARS2glutamyl-tRNA synthetase 2, mitochondrial | Ikke registreret | I 1 tilstand |
| ECHS1enoyl-CoA hydratase, short chain 1 | Ikke registreret | I 1 tilstand |
| FOXG1forkhead box G1 | Ikke registreret | I 1 tilstand |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Ikke registreret | I 1 tilstand |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Ikke registreret | I 1 tilstand |
| GJC2gap junction protein gamma 2 | Ikke registreret | I 1 tilstand |
| GLB1galactosidase beta 1 | Ikke registreret | I 1 tilstand |
| IREB2iron responsive element binding protein 2 | Ikke registreret | I 1 tilstand |
| MAT1Amethionine adenosyltransferase 1A | Ikke registreret | I 1 tilstand |
| MCOLN1mucolipin TRP cation channel 1 | Ikke registreret | I 1 tilstand |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Ikke registreret | I 1 tilstand |
| MT-CYBmitochondrially encoded cytochrome b | Ikke registreret | I 1 tilstand |
| MT-ND4Lmitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L | Ikke registreret | I 1 tilstand |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Ikke registreret | I 1 tilstand |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Ikke registreret | I 1 tilstand |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Ikke registreret | I 1 tilstand |
| NPC1NPC intracellular cholesterol transporter 1 | Ikke registreret | I 1 tilstand |
| NPC2NPC intracellular cholesterol transporter 2 | Ikke registreret | I 1 tilstand |
| PCCApropionyl-CoA carboxylase subunit alpha | Ikke registreret | I 1 tilstand |
| PCCBpropionyl-CoA carboxylase subunit beta | Ikke registreret | I 1 tilstand |
| PDHXpyruvate dehydrogenase complex component X | Ikke registreret | I 1 tilstand |
| PSEN1presenilin 1 | Ikke registreret | I 1 tilstand |
| QDPRquinoid dihydropteridine reductase | Ikke registreret | I 1 tilstand |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Ikke registreret | I 1 tilstand |
| SLC25A42solute carrier family 25 member 42 | Ikke registreret | I 1 tilstand |
| SNCAIPsynuclein alpha interacting protein | Ikke registreret | I 1 tilstand |
| SURF1SURF1 cytochrome c oxidase assembly factor | Ikke registreret | I 1 tilstand |
| TMEM106Btransmembrane protein 106B | Ikke registreret | I 1 tilstand |
| TPI1triosephosphate isomerase 1 | Ikke registreret | I 1 tilstand |
| TRAPPC11trafficking protein particle complex subunit 11 | Ikke registreret | I 1 tilstand |
| TRIT1tRNA isopentenyltransferase 1 | Ikke registreret | I 1 tilstand |
| TSEN34tRNA splicing endonuclease subunit 34 | Ikke registreret | I 1 tilstand |
| TSFMTs translation elongation factor, mitochondrial | Ikke registreret | I 1 tilstand |
| TXN2thioredoxin 2 | Ikke registreret | I 1 tilstand |
| UFM1ubiquitin fold modifier 1 | Ikke registreret | I 1 tilstand |
| VCPvalosin containing protein | Ikke registreret | I 1 tilstand |
| VPS13Avacuolar protein sorting 13 homolog A | Ikke registreret | I 1 tilstand |
| VPS13Dvacuolar protein sorting 13 homolog D | Ikke registreret | I 1 tilstand |
| ZC4H2zinc finger C4H2-type containing | 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.
Snævrere træk
Bredere træk
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.
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger