Kimlere Yardımcı OluyoruzBilimimizÜrünlerSonuçlar
Giriş YapSorBaşlayın$449'den başlayan
Özellik
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.
Özet
- Diğer adları
- Dystonic movements
- Vücut sistemi
- Abnormality of the nervous system
DystoniaHP:0001332
Kimlere Yardımcı OluyoruzBilimimizÜrünlerSonuçlar
Giriş YapSorBaşlayın$449'den başlayan
Read the genes linked to Dystonia, and the rest of your genome, with one test.
$449'den başlayanÜcretsiz kargo · Sonuçlar 6–8 hafta içinde
Genome Test'imi alDystonia ile ilişkili 455 gen
Bu genlerdeki değişiklikler, Dystonia özelliğinin görüldüğü nadir durumlara yol açar. Bu özelliğe sahip çoğu kişide bu durumlardan hiçbiri yoktur; ayrıca bu listedeki bir gen, kimsenin kendi genomu hakkında bir şey söylemez.
| Gen | Ne sıklıkla görüldüğü | Durumlar |
|---|---|---|
| ACER3alkaline ceramidase 3 | Her zaman | 1 durumda |
| ADCY5adenylate cyclase 5 | Her zaman | 4 durumda |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Her zaman | 5 durumda |
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Her zaman | 1 durumda |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Her zaman | 1 durumda |
| ARV1ARV1 fatty acid homeostasis modulator | Her zaman | 1 durumda |
| ATP5POATP synthase peripheral stalk subunit OSCP | Her zaman | 2 durumda |
| BCAP31B cell receptor associated protein 31 | Her zaman | 2 durumda |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Her zaman | 1 durumda |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Her zaman | 1 durumda |
| CLCN4Cl-/H+ antiporter 4 | Her zaman | 1 durumda |
| COASYCoenzyme A synthase | Her zaman | 1 durumda |
| COQ4coenzyme Q4 | Her zaman | 1 durumda |
| COQ9coenzyme Q9 | Her zaman | 1 durumda |
| CWF19L1CWF19 like cell cycle control factor 1 | Her zaman | 2 durumda |
| DALRD3DALR anticodon binding domain containing 3 | Her zaman | 1 durumda |
| DLDdihydrolipoamide dehydrogenase | Her zaman | 1 durumda |
| DLG5discs large MAGUK scaffold protein 5 | Her zaman | 1 durumda |
| DMXL2Dmx like 2 | Her zaman | 3 durumda |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Her zaman | 2 durumda |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Her zaman | 1 durumda |
| ESAMendothelial cell adhesion molecule | Her zaman | 1 durumda |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Her zaman | 1 durumda |
| FDXRferredoxin reductase | Her zaman | 1 durumda |
| FUCA1alpha-L-fucosidase 1 | Her zaman | 1 durumda |
| GCH1GTP cyclohydrolase 1 | Her zaman | 2 durumda |
| GCSHglycine cleavage system protein H | Her zaman | 1 durumda |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Her zaman | 4 durumda |
| GSX2GS homeobox 2 | Her zaman | 1 durumda |
| GTF3C3general transcription factor IIIC subunit 3 | Her zaman | 1 durumda |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Her zaman | 1 durumda |
| HTThuntingtin | Her zaman | 3 durumda |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Her zaman | 1 durumda |
| KARS1lysyl-tRNA synthetase 1 | Her zaman | 2 durumda |
| KCNA4potassium voltage-gated channel subfamily A member 4 | Her zaman | 1 durumda |
| KCNN2potassium calcium-activated channel subfamily N member 2 | Her zaman | 2 durumda |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Her zaman | 3 durumda |
| KMT2Blysine methyltransferase 2B | Her zaman | 1 durumda |
| LIPT1lipoyltransferase 1 | Her zaman | 1 durumda |
| LRRC7leucine rich repeat containing 7 | Her zaman | 1 durumda |
415 gen daha göster
| Gen | Ne sıklıkla görüldüğü | Durumlar |
|---|---|---|
| MECP2methyl-CpG binding protein 2 | Her zaman | 4 durumda |
| MMADHCmetabolism of cobalamin associated D | Her zaman | 2 durumda |
| MRE11MRE11 double strand break repair nuclease | Her zaman | 2 durumda |
| NADK2NAD kinase 2, mitochondrial | Her zaman | 2 durumda |
| NAV3neuron navigator 3 | Her zaman | 1 durumda |
| NDUFA12NADH:ubiquinone oxidoreductase subunit A12 | Her zaman | 1 durumda |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Her zaman | 1 durumda |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Her zaman | 1 durumda |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Her zaman | 1 durumda |
| NDUFAF6NADH:ubiquinone oxidoreductase complex assembly factor 6 | Her zaman | 1 durumda |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Her zaman | 1 durumda |
| NKX6-2NK6 homeobox 2 | Her zaman | 2 durumda |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Her zaman | 2 durumda |
| OGDHoxoglutarate dehydrogenase | Her zaman | 1 durumda |
| PCDH12protocadherin 12 | Her zaman | 1 durumda |
| PDE2Aphosphodiesterase 2A | Her zaman | 1 durumda |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Her zaman | 1 durumda |
| PLA2G6phospholipase A2 group VI | Her zaman | 4 durumda |
| PNPLA8patatin like domain 8, phospholipase A2 | Her zaman | 1 durumda |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Her zaman | 1 durumda |
| POLGDNA polymerase gamma, catalytic subunit | Her zaman | 2 durumda |
| POLR1ARNA polymerase I subunit A | Her zaman | 1 durumda |
| POLR3BRNA polymerase III subunit B | Her zaman | 2 durumda |
| POLR3KRNA polymerase III subunit K | Her zaman | 1 durumda |
| RAB32RAB32, member RAS oncogene family | Her zaman | 1 durumda |
| RFC4replication factor C subunit 4 | Her zaman | 1 durumda |
| RNU2-2RNA, U2 small nuclear 2 | Her zaman | 1 durumda |
| RPS6KC1ribosomal protein S6 kinase C1 | Her zaman | 1 durumda |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Her zaman | 4 durumda |
| SCP2sterol carrier protein 2 | Her zaman | 1 durumda |
| SDHDsuccinate dehydrogenase complex subunit D | Her zaman | 1 durumda |
| SERAC1serine active site containing 1 | Her zaman | 2 durumda |
| SHQ1SHQ1, H/ACA ribonucleoprotein assembly factor | Her zaman | 2 durumda |
| SLC18A2solute carrier family 18 member A2 | Her zaman | 2 durumda |
| SLC19A3solute carrier family 19 member 3 | Her zaman | 2 durumda |
| SLC30A9solute carrier family 30 member 9 | Her zaman | 1 durumda |
| SLC39A14solute carrier family 39 member 14 | Her zaman | 2 durumda |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Her zaman | 1 durumda |
| SYNJ1synaptojanin 1 | Her zaman | 4 durumda |
| TGIF1TGFB induced factor homeobox 1 | Her zaman | 1 durumda |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Her zaman | 2 durumda |
| TOR1Atorsin family 1 member A | Her zaman | 2 durumda |
| TRAPPC12trafficking protein particle complex subunit 12 | Her zaman | 2 durumda |
| TREX1three prime repair exonuclease 1 | Her zaman | 2 durumda |
| TTPAalpha tocopherol transfer protein | Her zaman | 2 durumda |
| UBA5ubiquitin like modifier activating enzyme 5 | Her zaman | 1 durumda |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Her zaman | 1 durumda |
| UQCRQubiquinol-cytochrome c reductase complex III subunit VII | Her zaman | 1 durumda |
| VAC14VAC14 component of PIKFYVE complex | Her zaman | 1 durumda |
| VPS16VPS16 core subunit of CORVET and HOPS complexes | Her zaman | 1 durumda |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Her zaman | 3 durumda |
| WDR45WD repeat domain 45 | Her zaman | 2 durumda |
| ATXN3ataxin 3 | Çok sık (%80–99) | 5 durumda |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Çok sık (%80–99) | 1 durumda |
| DCAF17DDB1 and CUL4 associated factor 17 | Çok sık (%80–99) | 2 durumda |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Çok sık (%80–99) | 3 durumda |
| DRD2dopamine receptor D2 | Çok sık (%80–99) | 1 durumda |
| FTLferritin light chain | Çok sık (%80–99) | 2 durumda |
| GBA1glucosylceramidase beta 1 | Çok sık (%80–99) | 3 durumda |
| GM2Aganglioside GM2 activator | Çok sık (%80–99) | 2 durumda |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Çok sık (%80–99) | 2 durumda |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Çok sık (%80–99) | 2 durumda |
| KCNJ10potassium inwardly rectifying channel subfamily J member 10 | Çok sık (%80–99) | 1 durumda |
| KCTD17potassium channel tetramerization domain containing 17 | Çok sık (%80–99) | 2 durumda |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Çok sık (%80–99) | 2 durumda |
| MED27mediator complex subunit 27 | Çok sık (%80–99) | 1 durumda |
| MLYCDmalonyl-CoA decarboxylase | Çok sık (%80–99) | 1 durumda |
| MPV17mitochondrial inner membrane protein MPV17 | Çok sık (%80–99) | 1 durumda |
| PANK2pantothenate kinase 2 | Çok sık (%80–99) | 1 durumda |
| PLP1proteolipid protein 1 | Çok sık (%80–99) | 2 durumda |
| PNKDPNKD metallo-beta-lactamase domain containing | Çok sık (%80–99) | 1 durumda |
| PODXLpodocalyxin like | Çok sık (%80–99) | 2 durumda |
| PRRT2proline rich transmembrane protein 2 | Çok sık (%80–99) | 4 durumda |
| PSAPprosaposin | Çok sık (%80–99) | 4 durumda |
| SGCEsarcoglycan epsilon | Çok sık (%80–99) | 1 durumda |
| SLC2A1solute carrier family 2 member 1 | Çok sık (%80–99) | 7 durumda |
| SLC30A10solute carrier family 30 member 10 | Çok sık (%80–99) | 2 durumda |
| SLC6A3solute carrier family 6 member 3 | Çok sık (%80–99) | 2 durumda |
| TBC1D24TBC1 domain family member 24 | Çok sık (%80–99) | 2 durumda |
| THAP1THAP domain containing 1 | Çok sık (%80–99) | 1 durumda |
| TMEM151Atransmembrane protein 151A | Çok sık (%80–99) | 1 durumda |
| TSEN54tRNA splicing endonuclease subunit 54 | Çok sık (%80–99) | 1 durumda |
| TUBB4Atubulin beta 4A class IVa | Çok sık (%80–99) | 1 durumda |
| VPS4Avacuolar protein sorting 4 homolog A | Çok sık (%80–99) | 1 durumda |
| AARS1alanyl-tRNA synthetase 1 | Sık (%30–79) | 1 durumda |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Sık (%30–79) | 1 durumda |
| ACBD6acyl-CoA binding domain containing 6 | Sık (%30–79) | 1 durumda |
| ADARadenosine deaminase RNA specific | Sık (%30–79) | 3 durumda |
| AFG2BAAA ATPase AFG2B | Sık (%30–79) | 1 durumda |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Sık (%30–79) | 1 durumda |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Sık (%30–79) | 1 durumda |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Sık (%30–79) | 2 durumda |
| AMPD2adenosine monophosphate deaminase 2 | Sık (%30–79) | 1 durumda |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Sık (%30–79) | 2 durumda |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Sık (%30–79) | 1 durumda |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Sık (%30–79) | 1 durumda |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Sık (%30–79) | 1 durumda |
| APTXaprataxin | Sık (%30–79) | 1 durumda |
| AQP4aquaporin 4 | Sık (%30–79) | 2 durumda |
| ARSAarylsulfatase A | Sık (%30–79) | 4 durumda |
| ATCAYATCAY kinesin light chain interacting caytaxin | Sık (%30–79) | 1 durumda |
| ATP13A2ATPase cation transporting 13A2 | Sık (%30–79) | 4 durumda |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Sık (%30–79) | 2 durumda |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Sık (%30–79) | 5 durumda |
| ATP5F1AATP synthase F1 subunit alpha | Sık (%30–79) | 2 durumda |
| ATP7BATPase copper transporting beta | Sık (%30–79) | 2 durumda |
| ATXN1ataxin 1 | Sık (%30–79) | 1 durumda |
| ATXN2ataxin 2 | Sık (%30–79) | 2 durumda |
| ATXN8ataxin 8 | Sık (%30–79) | 1 durumda |
| ATXN8OSATXN8 opposite strand lncRNA | Sık (%30–79) | 2 durumda |
| BORCS8BLOC-1 related complex subunit 8 | Sık (%30–79) | 1 durumda |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Sık (%30–79) | 4 durumda |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Sık (%30–79) | 2 durumda |
| CASKcalcium/calmodulin dependent serine protein kinase | Sık (%30–79) | 2 durumda |
| CDKL5cyclin dependent kinase like 5 | Sık (%30–79) | 3 durumda |
| COXFA4cytochrome c oxidase associated subunit FA4 | Sık (%30–79) | 1 durumda |
| CPceruloplasmin | Sık (%30–79) | 1 durumda |
| CRLS1cardiolipin synthase 1 | Sık (%30–79) | 1 durumda |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Sık (%30–79) | 1 durumda |
| DDCdopa decarboxylase | Sık (%30–79) | 1 durumda |
| DLATdihydrolipoamide S-acetyltransferase | Sık (%30–79) | 1 durumda |
| DNAJC12DnaJ heat shock protein family (Hsp40) member C12 | Sık (%30–79) | 1 durumda |
| ECM1extracellular matrix protein 1 | Sık (%30–79) | 1 durumda |
| ERLIN1ER lipid raft associated 1 | Sık (%30–79) | 1 durumda |
| FA2Hfatty acid 2-hydroxylase | Sık (%30–79) | 1 durumda |
| FBLN1fibulin 1 | Sık (%30–79) | 1 durumda |
| FBXO7F-box protein 7 | Sık (%30–79) | 2 durumda |
| FTH1ferritin heavy chain 1 | Sık (%30–79) | 1 durumda |
| FUSFUS RNA binding protein | Sık (%30–79) | 1 durumda |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Sık (%30–79) | 2 durumda |
| GCDHglutaryl-CoA dehydrogenase | Sık (%30–79) | 2 durumda |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Sık (%30–79) | 1 durumda |
| GPRC5BG protein-coupled receptor class C group 5 member B | Sık (%30–79) | 2 durumda |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Sık (%30–79) | 2 durumda |
| GTPBP2GTP binding protein 2 | Sık (%30–79) | 1 durumda |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Sık (%30–79) | 2 durumda |
| HIVEP2HIVEP zinc finger 2 | Sık (%30–79) | 1 durumda |
| HPRT1hypoxanthine phosphoribosyltransferase 1 | Sık (%30–79) | 2 durumda |
| IFIH1interferon induced with helicase C domain 1 | Sık (%30–79) | 2 durumda |
| IRF2BPLinterferon regulatory factor 2 binding protein like | Sık (%30–79) | 1 durumda |
| KCNQ3potassium voltage-gated channel subfamily Q member 3 | Sık (%30–79) | 1 durumda |
| LIPT2lipoyl(octanoyl) transferase 2 | Sık (%30–79) | 1 durumda |
| LSM11LSM11, U7 small nuclear RNA associated | Sık (%30–79) | 1 durumda |
| MAPTmicrotubule associated protein tau | Sık (%30–79) | 3 durumda |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Sık (%30–79) | 2 durumda |
| MDH2malate dehydrogenase 2 | Sık (%30–79) | 1 durumda |
| MED23mediator complex subunit 23 | Sık (%30–79) | 1 durumda |
| MICU1mitochondrial calcium uptake 1 | Sık (%30–79) | 2 durumda |
| MMUTmethylmalonyl-CoA mutase | Sık (%30–79) | 2 durumda |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Sık (%30–79) | 4 durumda |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Sık (%30–79) | 2 durumda |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Sık (%30–79) | 2 durumda |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Sık (%30–79) | 1 durumda |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Sık (%30–79) | 2 durumda |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Sık (%30–79) | 2 durumda |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Sık (%30–79) | 2 durumda |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Sık (%30–79) | 1 durumda |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Sık (%30–79) | 1 durumda |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Sık (%30–79) | 1 durumda |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Sık (%30–79) | 1 durumda |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Sık (%30–79) | 1 durumda |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Sık (%30–79) | 3 durumda |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Sık (%30–79) | 1 durumda |
| NIT1nitrilase 1 | Sık (%30–79) | 1 durumda |
| NTNG1netrin G1 | Sık (%30–79) | 1 durumda |
| NUP54nucleoporin 54 | Sık (%30–79) | 1 durumda |
| NUP62nucleoporin 62 | Sık (%30–79) | 2 durumda |
| OCLNoccludin | Sık (%30–79) | 1 durumda |
| PI4KAphosphatidylinositol 4-kinase alpha | Sık (%30–79) | 1 durumda |
| PLAAphospholipase A2 activating protein | Sık (%30–79) | 1 durumda |
| PLEKHG2pleckstrin homology and RhoGEF domain containing G2 | Sık (%30–79) | 1 durumda |
| PMPCBpeptidase, mitochondrial processing subunit beta | Sık (%30–79) | 1 durumda |
| PNKPpolynucleotide kinase 3'-phosphatase | Sık (%30–79) | 3 durumda |
| POLR3ARNA polymerase III subunit A | Sık (%30–79) | 2 durumda |
| PPIL1peptidylprolyl isomerase like 1 | Sık (%30–79) | 1 durumda |
| RAB11BRAB11B, member RAS oncogene family | Sık (%30–79) | 1 durumda |
| RARS1arginyl-tRNA synthetase 1 | Sık (%30–79) | 2 durumda |
| REPS1RALBP1 associated Eps domain containing 1 | Sık (%30–79) | 1 durumda |
| RHOBTB2Rho related BTB domain containing 2 | Sık (%30–79) | 3 durumda |
| RNASEH2Aribonuclease H2 subunit A | Sık (%30–79) | 2 durumda |
| RNASEH2Bribonuclease H2 subunit B | Sık (%30–79) | 2 durumda |
| RNASEH2Cribonuclease H2 subunit C | Sık (%30–79) | 2 durumda |
| RNU7-1RNA, U7 small nuclear 1 | Sık (%30–79) | 2 durumda |
| RRP12ribosomal RNA processing 12 homolog | Sık (%30–79) | 2 durumda |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Sık (%30–79) | 1 durumda |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Sık (%30–79) | 1 durumda |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Sık (%30–79) | 1 durumda |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Sık (%30–79) | 1 durumda |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Sık (%30–79) | 1 durumda |
| SIGMAR1sigma receptor chaperone 1 | Sık (%30–79) | 1 durumda |
| SLC16A2solute carrier family 16 member 2 | Sık (%30–79) | 1 durumda |
| SLC1A3solute carrier family 1 member 3 | Sık (%30–79) | 1 durumda |
| SLC2A3solute carrier family 2 member 3 | Sık (%30–79) | 1 durumda |
| SLC44A1solute carrier family 44 member 1 | Sık (%30–79) | 1 durumda |
| SLC6A8solute carrier family 6 member 8 | Sık (%30–79) | 2 durumda |
| SMC1Astructural maintenance of chromosomes 1A | Sık (%30–79) | 1 durumda |
| SNAPC4small nuclear RNA activating complex polypeptide 4 | Sık (%30–79) | 1 durumda |
| SNCAsynuclein alpha | Sık (%30–79) | 4 durumda |
| SORDsorbitol dehydrogenase | Sık (%30–79) | 1 durumda |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Sık (%30–79) | 1 durumda |
| SPRsepiapterin reductase | Sık (%30–79) | 2 durumda |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Sık (%30–79) | 1 durumda |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Sık (%30–79) | 1 durumda |
| SPTSSAserine palmitoyltransferase small subunit A | Sık (%30–79) | 1 durumda |
| SQSTM1sequestosome 1 | Sık (%30–79) | 1 durumda |
| STN1STN1 subunit of CST complex | Sık (%30–79) | 1 durumda |
| STUB1STIP1 homology and U-box containing protein 1 | Sık (%30–79) | 1 durumda |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Sık (%30–79) | 1 durumda |
| TARDBPTAR DNA binding protein | Sık (%30–79) | 1 durumda |
| TBPTATA-box binding protein | Sık (%30–79) | 3 durumda |
| TM2D3TM2 domain containing 3 | Sık (%30–79) | 1 durumda |
| TNRtenascin R | Sık (%30–79) | 1 durumda |
| TPK1thiamin pyrophosphokinase 1 | Sık (%30–79) | 1 durumda |
| TRMT2BtRNA methyltransferase 2B | Sık (%30–79) | 1 durumda |
| TSEN2tRNA splicing endonuclease subunit 2 | Sık (%30–79) | 1 durumda |
| TTC19tetratricopeptide repeat domain 19 | Sık (%30–79) | 1 durumda |
| UBQLN2ubiquilin 2 | Sık (%30–79) | 2 durumda |
| UBTFupstream binding transcription factor | Sık (%30–79) | 2 durumda |
| WDR73WD repeat domain 73 | Sık (%30–79) | 1 durumda |
| XKX-linked Kx blood group antigen, Kell and VPS13A binding protein | Sık (%30–79) | 1 durumda |
| ZNF142zinc finger protein 142 | Sık (%30–79) | 1 durumda |
| ABCD1ATP binding cassette subfamily D member 1 | Bazen (%5–29) | 1 durumda |
| ACADSacyl-CoA dehydrogenase short chain | Bazen (%5–29) | 1 durumda |
| ACSF3acyl-CoA synthetase family member 3 | Bazen (%5–29) | 1 durumda |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Bazen (%5–29) | 1 durumda |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Bazen (%5–29) | 1 durumda |
| ASLargininosuccinate lyase | Bazen (%5–29) | 1 durumda |
| ATAD3AATPase family AAA domain containing 3A | Bazen (%5–29) | 1 durumda |
| ATG7autophagy related 7 | Bazen (%5–29) | 1 durumda |
| ATN1atrophin 1 | Bazen (%5–29) | 1 durumda |
| ATP5F1DATP synthase F1 subunit delta | Bazen (%5–29) | 1 durumda |
| ATP5F1EATP synthase F1 subunit epsilon | Bazen (%5–29) | 1 durumda |
| ATP5MKATP synthase membrane subunit k | Bazen (%5–29) | 1 durumda |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Bazen (%5–29) | 1 durumda |
| AUHAU RNA binding methylglutaconyl-CoA hydratase | Bazen (%5–29) | 2 durumda |
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Bazen (%5–29) | 2 durumda |
| BCAS3BCAS3 microtubule associated cell migration factor | Bazen (%5–29) | 1 durumda |
| BCKDKbranched chain keto acid dehydrogenase kinase | Bazen (%5–29) | 1 durumda |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Bazen (%5–29) | 1 durumda |
| CARS1cysteinyl-tRNA synthetase 1 | Bazen (%5–29) | 1 durumda |
| CBScystathionine beta-synthase | Bazen (%5–29) | 1 durumda |
| CDC40cell division cycle 40 | Bazen (%5–29) | 1 durumda |
| CLPBClpB family mitochondrial disaggregase | Bazen (%5–29) | 1 durumda |
| CLTCclathrin heavy chain | Bazen (%5–29) | 1 durumda |
| CMPK2cytidine/uridine monophosphate kinase 2 | Bazen (%5–29) | 1 durumda |
| COL4A1collagen type IV alpha 1 chain | Bazen (%5–29) | 1 durumda |
| COPB1coat protein complex I subunit beta 1 | Bazen (%5–29) | 1 durumda |
| CUX2cut like homeobox 2 | Bazen (%5–29) | 1 durumda |
| CYP2U1cytochrome P450 family 2 subfamily U member 1 | Bazen (%5–29) | 2 durumda |
| DCTN1dynactin subunit 1 | Bazen (%5–29) | 1 durumda |
| DHX30DExH-box helicase 30 | Bazen (%5–29) | 1 durumda |
| DNAJC13DnaJ heat shock protein family (Hsp40) member C13 | Bazen (%5–29) | 1 durumda |
| DNM1Ldynamin 1L | Bazen (%5–29) | 1 durumda |
| EIF4G1eukaryotic translation initiation factor 4 gamma 1 | Bazen (%5–29) | 1 durumda |
| EMC1ER membrane protein complex subunit 1 | Bazen (%5–29) | 1 durumda |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Bazen (%5–29) | 1 durumda |
| FBXL4F-box and leucine rich repeat protein 4 | Bazen (%5–29) | 1 durumda |
| FHfumarate hydratase | Bazen (%5–29) | 1 durumda |
| FLVCR1FLVCR choline and heme transporter 1 | Bazen (%5–29) | 1 durumda |
| FRMD5FERM domain containing 5 | Bazen (%5–29) | 1 durumda |
| FXNfrataxin | Bazen (%5–29) | 1 durumda |
| GAD1glutamate decarboxylase 1 | Bazen (%5–29) | 1 durumda |
| GALTgalactose-1-phosphate uridylyltransferase | Bazen (%5–29) | 1 durumda |
| GAMTguanidinoacetate N-methyltransferase | Bazen (%5–29) | 1 durumda |
| GFM1G elongation factor mitochondrial 1 | Bazen (%5–29) | 1 durumda |
| GIGYF2GRB10 interacting GYF protein 2 | Bazen (%5–29) | 1 durumda |
| GNAO1G protein subunit alpha o1 | Bazen (%5–29) | 3 durumda |
| GNB1G protein subunit beta 1 | Bazen (%5–29) | 1 durumda |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Bazen (%5–29) | 1 durumda |
| H4C5H4 clustered histone 5 | Bazen (%5–29) | 1 durumda |
| HEPACAMhepatic and glial cell adhesion molecule | Bazen (%5–29) | 1 durumda |
| HEXBhexosaminidase subunit beta | Bazen (%5–29) | 1 durumda |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Bazen (%5–29) | 1 durumda |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Bazen (%5–29) | 1 durumda |
| HTRA2HtrA serine peptidase 2 | Bazen (%5–29) | 2 durumda |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Bazen (%5–29) | 1 durumda |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Bazen (%5–29) | 1 durumda |
| ISCA2iron-sulfur cluster assembly 2 | Bazen (%5–29) | 1 durumda |
| JAM2junctional adhesion molecule 2 | Bazen (%5–29) | 2 durumda |
| JPH3junctophilin 3 | Bazen (%5–29) | 2 durumda |
| KAT6Alysine acetyltransferase 6A | Bazen (%5–29) | 2 durumda |
| KCNMA1potassium calcium-activated channel subfamily M alpha 1 | Bazen (%5–29) | 1 durumda |
| KDM6Blysine demethylase 6B | Bazen (%5–29) | 1 durumda |
| KICS2KICSTOR subunit 2 | Bazen (%5–29) | 1 durumda |
| KLHL20kelch like family member 20 | Bazen (%5–29) | 1 durumda |
| LONP1lon peptidase 1, mitochondrial | Bazen (%5–29) | 1 durumda |
| LRPPRCleucine rich pentatricopeptide repeat containing | Bazen (%5–29) | 1 durumda |
| LRRK2leucine rich repeat kinase 2 | Bazen (%5–29) | 2 durumda |
| MLC1modulator of VRAC current 1 | Bazen (%5–29) | 1 durumda |
| MOGSmannosyl-oligosaccharide glucosidase | Bazen (%5–29) | 1 durumda |
| MRPS34mitochondrial ribosomal protein S34 | Bazen (%5–29) | 1 durumda |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Bazen (%5–29) | 1 durumda |
| MTO1mitochondrial tRNA translation optimization 1 | Bazen (%5–29) | 1 durumda |
| MYORGmyogenesis regulating glycosidase | Bazen (%5–29) | 3 durumda |
| NAXDNAD(P)HX dehydratase | Bazen (%5–29) | 2 durumda |
| NBEAneurobeachin | Bazen (%5–29) | 1 durumda |
| NGLY1N-glycanase 1 | Bazen (%5–29) | 1 durumda |
| NKX2-1NK2 homeobox 1 | Bazen (%5–29) | 2 durumda |
| OFD1OFD1 centriole and centriolar satellite protein | Bazen (%5–29) | 1 durumda |
| PARK7Parkinsonism associated deglycase | Bazen (%5–29) | 1 durumda |
| PDGFBplatelet derived growth factor subunit B | Bazen (%5–29) | 2 durumda |
| PDGFRBplatelet derived growth factor receptor beta | Bazen (%5–29) | 2 durumda |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Bazen (%5–29) | 2 durumda |
| PGBD5piggyBac transposable element derived 5 | Bazen (%5–29) | 1 durumda |
| PIK3R5phosphoinositide-3-kinase regulatory subunit 5 | Bazen (%5–29) | 1 durumda |
| PINK1PTEN induced kinase 1 | Bazen (%5–29) | 2 durumda |
| PPFIBP1PPFIB scaffold protein 1 | Bazen (%5–29) | 1 durumda |
| PRKNparkin RBR E3 ubiquitin protein ligase | Bazen (%5–29) | 2 durumda |
| PTS6-pyruvoyltetrahydropterin synthase | Bazen (%5–29) | 2 durumda |
| PURApurine rich element binding protein A | Bazen (%5–29) | 1 durumda |
| RFX7regulatory factor X7 | Bazen (%5–29) | 1 durumda |
| RNASET2ribonuclease T2 | Bazen (%5–29) | 1 durumda |
| SETXsenataxin | Bazen (%5–29) | 2 durumda |
| SH2B1SH2B adaptor protein 1 | Bazen (%5–29) | 1 durumda |
| SLC13A5solute carrier family 13 member 5 | Bazen (%5–29) | 1 durumda |
| SLC20A2solute carrier family 20 member 2 | Bazen (%5–29) | 2 durumda |
| SLC32A1solute carrier family 32 member 1 | Bazen (%5–29) | 2 durumda |
| SLC39A8solute carrier family 39 member 8 | Bazen (%5–29) | 1 durumda |
| SLITRK2SLIT and NTRK like family member 2 | Bazen (%5–29) | 1 durumda |
| SNORD118small nucleolar RNA, C/D box 118 | Bazen (%5–29) | 2 durumda |
| SPOPspeckle type BTB/POZ protein | Bazen (%5–29) | 1 durumda |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Bazen (%5–29) | 1 durumda |
| SPTBN1spectrin beta, non-erythrocytic 1 | Bazen (%5–29) | 1 durumda |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Bazen (%5–29) | 1 durumda |
| SYT1synaptotagmin 1 | Bazen (%5–29) | 2 durumda |
| TAF1TATA-box binding protein associated factor 1 | Bazen (%5–29) | 2 durumda |
| TANGO2transport and golgi organization 2 homolog | Bazen (%5–29) | 2 durumda |
| TMEM163transmembrane protein 163 | Bazen (%5–29) | 1 durumda |
| TMEM240transmembrane protein 240 | Bazen (%5–29) | 1 durumda |
| TMEM67transmembrane protein 67 | Bazen (%5–29) | 1 durumda |
| TUBB3tubulin beta 3 class III | Bazen (%5–29) | 1 durumda |
| UCHL1ubiquitin C-terminal hydrolase L1 | Bazen (%5–29) | 1 durumda |
| UGDHUDP-glucose 6-dehydrogenase | Bazen (%5–29) | 1 durumda |
| UPB1beta-ureidopropionase 1 | Bazen (%5–29) | 1 durumda |
| VAMP1vesicle associated membrane protein 1 | Bazen (%5–29) | 2 durumda |
| VAMP2vesicle associated membrane protein 2 | Bazen (%5–29) | 1 durumda |
| VPS13Cvacuolar protein sorting 13 homolog C | Bazen (%5–29) | 1 durumda |
| VPS35VPS35 retromer complex component | Bazen (%5–29) | 1 durumda |
| VPS37AVPS37A subunit of ESCRT-I | Bazen (%5–29) | 1 durumda |
| WDR83OSWD repeat domain 83 opposite strand | Bazen (%5–29) | 1 durumda |
| XPR1xenotropic and polytropic retrovirus receptor 1 | Bazen (%5–29) | 2 durumda |
| YY1YY1 transcription factor | Bazen (%5–29) | 2 durumda |
| ARXaristaless related homeobox | Seyrek (%1–4) | 2 durumda |
| COQ8Acoenzyme Q8A | Seyrek (%1–4) | 1 durumda |
| CTCFCCCTC-binding factor | Seyrek (%1–4) | 1 durumda |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Seyrek (%1–4) | 1 durumda |
| GLE1GLE1 RNA export mediator | Seyrek (%1–4) | 1 durumda |
| GRIA2glutamate ionotropic receptor AMPA type subunit 2 | Seyrek (%1–4) | 1 durumda |
| GRM7glutamate metabotropic receptor 7 | Seyrek (%1–4) | 1 durumda |
| LGI1leucine rich glioma inactivated 1 | Seyrek (%1–4) | 1 durumda |
| NEUROD2neuronal differentiation 2 | Seyrek (%1–4) | 1 durumda |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Seyrek (%1–4) | 1 durumda |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Seyrek (%1–4) | 1 durumda |
| RNU4-2RNA, U4 small nuclear 2 | Seyrek (%1–4) | 1 durumda |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Seyrek (%1–4) | 1 durumda |
| SIK1salt inducible kinase 1 | Seyrek (%1–4) | 1 durumda |
| SLC25A22solute carrier family 25 member 22 | Seyrek (%1–4) | 1 durumda |
| SPRED1sprouty related EVH1 domain containing 1 | Seyrek (%1–4) | 1 durumda |
| STXBP1syntaxin binding protein 1 | Seyrek (%1–4) | 1 durumda |
| TBCDtubulin folding cofactor D | Seyrek (%1–4) | 1 durumda |
| TRIM8tripartite motif containing 8 | Seyrek (%1–4) | 1 durumda |
| TTBK2tau tubulin kinase 2 | Seyrek (%1–4) | 1 durumda |
| ACOX1acyl-CoA oxidase 1 | Kaydedilmedi | 1 durumda |
| ADH1Calcohol dehydrogenase 1C (class I), gamma polypeptide | Kaydedilmedi | 1 durumda |
| APOEapolipoprotein E | Kaydedilmedi | 1 durumda |
| ATMATM serine/threonine kinase | Kaydedilmedi | 1 durumda |
| ATP5MC3ATP synthase membrane subunit c locus 3 | Kaydedilmedi | 1 durumda |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Kaydedilmedi | 1 durumda |
| C19orf12chromosome 19 open reading frame 12 | Kaydedilmedi | 1 durumda |
| CHMP2Bcharged multivesicular body protein 2B | Kaydedilmedi | 1 durumda |
| CHRNA2cholinergic receptor nicotinic alpha 2 subunit | Kaydedilmedi | 1 durumda |
| CKAP2Lcytoskeleton associated protein 2L | Kaydedilmedi | 1 durumda |
| CNTNAP1contactin associated protein 1 | Kaydedilmedi | 1 durumda |
| CTC1CST telomere replication complex component 1 | Kaydedilmedi | 1 durumda |
| DEGS1delta 4-desaturase, sphingolipid 1 | Kaydedilmedi | 1 durumda |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Kaydedilmedi | 1 durumda |
| EARS2glutamyl-tRNA synthetase 2, mitochondrial | Kaydedilmedi | 1 durumda |
| ECHS1enoyl-CoA hydratase, short chain 1 | Kaydedilmedi | 1 durumda |
| FOXG1forkhead box G1 | Kaydedilmedi | 1 durumda |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Kaydedilmedi | 1 durumda |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Kaydedilmedi | 1 durumda |
| GJC2gap junction protein gamma 2 | Kaydedilmedi | 1 durumda |
| GLB1galactosidase beta 1 | Kaydedilmedi | 1 durumda |
| IREB2iron responsive element binding protein 2 | Kaydedilmedi | 1 durumda |
| MAT1Amethionine adenosyltransferase 1A | Kaydedilmedi | 1 durumda |
| MCOLN1mucolipin TRP cation channel 1 | Kaydedilmedi | 1 durumda |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Kaydedilmedi | 1 durumda |
| MT-CYBmitochondrially encoded cytochrome b | Kaydedilmedi | 1 durumda |
| MT-ND4Lmitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L | Kaydedilmedi | 1 durumda |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Kaydedilmedi | 1 durumda |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Kaydedilmedi | 1 durumda |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Kaydedilmedi | 1 durumda |
| NPC1NPC intracellular cholesterol transporter 1 | Kaydedilmedi | 1 durumda |
| NPC2NPC intracellular cholesterol transporter 2 | Kaydedilmedi | 1 durumda |
| PCCApropionyl-CoA carboxylase subunit alpha | Kaydedilmedi | 1 durumda |
| PCCBpropionyl-CoA carboxylase subunit beta | Kaydedilmedi | 1 durumda |
| PDHXpyruvate dehydrogenase complex component X | Kaydedilmedi | 1 durumda |
| PSEN1presenilin 1 | Kaydedilmedi | 1 durumda |
| QDPRquinoid dihydropteridine reductase | Kaydedilmedi | 1 durumda |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Kaydedilmedi | 1 durumda |
| SLC25A42solute carrier family 25 member 42 | Kaydedilmedi | 1 durumda |
| SNCAIPsynuclein alpha interacting protein | Kaydedilmedi | 1 durumda |
| SURF1SURF1 cytochrome c oxidase assembly factor | Kaydedilmedi | 1 durumda |
| TMEM106Btransmembrane protein 106B | Kaydedilmedi | 1 durumda |
| TPI1triosephosphate isomerase 1 | Kaydedilmedi | 1 durumda |
| TRAPPC11trafficking protein particle complex subunit 11 | Kaydedilmedi | 1 durumda |
| TRIT1tRNA isopentenyltransferase 1 | Kaydedilmedi | 1 durumda |
| TSEN34tRNA splicing endonuclease subunit 34 | Kaydedilmedi | 1 durumda |
| TSFMTs translation elongation factor, mitochondrial | Kaydedilmedi | 1 durumda |
| TXN2thioredoxin 2 | Kaydedilmedi | 1 durumda |
| UFM1ubiquitin fold modifier 1 | Kaydedilmedi | 1 durumda |
| VCPvalosin containing protein | Kaydedilmedi | 1 durumda |
| VPS13Avacuolar protein sorting 13 homolog A | Kaydedilmedi | 1 durumda |
| VPS13Dvacuolar protein sorting 13 homolog D | Kaydedilmedi | 1 durumda |
| ZC4H2zinc finger C4H2-type containing | Kaydedilmedi | 1 durumda |
Bu özelliğin, genin ilişkili olduğu durumlardan birine sahip kişiler arasında ne sıklıkta görüldüğü; Human Phenotype Ontology'nin kaydettiği şekliyle, bunlar arasında en sık görülen oran. Bu sayfalar özellikleri ve bunların arkasındaki araştırmaları anlatır; tanı koymaz. Belirtiler hakkında bir doktora veya genetik danışmana başvurmanız gerekir.
Daha dar özellikler
Daha geniş özellikler
Bilgilerin kaynağı
- Human Phenotype Ontology, 2026-09-01 sürümü: özellik, adları, tanımı ve buna bağlı genler. Ayrıntılar için hpo.jax.org adresine bakın.
- Veri sürümü 2026.10.16-c6eea6bf.
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