Požymis
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.
Santrauka
- Taip pat vadinama
- Dystonic movements
- Kūno sistema
- Abnormality of the nervous system
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Dystonia. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ACER3alkaline ceramidase 3 | Visada | 1 ligoje |
| ADCY5adenylate cyclase 5 | Visada | 4 ligose |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Visada | 5 ligose |
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Visada | 1 ligoje |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Visada | 1 ligoje |
| ARV1ARV1 fatty acid homeostasis modulator | Visada | 1 ligoje |
| ATP5POATP synthase peripheral stalk subunit OSCP | Visada | 2 ligose |
| BCAP31B cell receptor associated protein 31 | Visada | 2 ligose |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Visada | 1 ligoje |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Visada | 1 ligoje |
| CLCN4Cl-/H+ antiporter 4 | Visada | 1 ligoje |
| COASYCoenzyme A synthase | Visada | 1 ligoje |
| COQ4coenzyme Q4 | Visada | 1 ligoje |
| COQ9coenzyme Q9 | Visada | 1 ligoje |
| CWF19L1CWF19 like cell cycle control factor 1 | Visada | 2 ligose |
| DALRD3DALR anticodon binding domain containing 3 | Visada | 1 ligoje |
| DLDdihydrolipoamide dehydrogenase | Visada | 1 ligoje |
| DLG5discs large MAGUK scaffold protein 5 | Visada | 1 ligoje |
| DMXL2Dmx like 2 | Visada | 3 ligose |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Visada | 2 ligose |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Visada | 1 ligoje |
| ESAMendothelial cell adhesion molecule | Visada | 1 ligoje |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Visada | 1 ligoje |
| FDXRferredoxin reductase | Visada | 1 ligoje |
| FUCA1alpha-L-fucosidase 1 | Visada | 1 ligoje |
| GCH1GTP cyclohydrolase 1 | Visada | 2 ligose |
| GCSHglycine cleavage system protein H | Visada | 1 ligoje |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Visada | 4 ligose |
| GSX2GS homeobox 2 | Visada | 1 ligoje |
| GTF3C3general transcription factor IIIC subunit 3 | Visada | 1 ligoje |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Visada | 1 ligoje |
| HTThuntingtin | Visada | 3 ligose |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Visada | 1 ligoje |
| KARS1lysyl-tRNA synthetase 1 | Visada | 2 ligose |
| KCNA4potassium voltage-gated channel subfamily A member 4 | Visada | 1 ligoje |
| KCNN2potassium calcium-activated channel subfamily N member 2 | Visada | 2 ligose |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Visada | 3 ligose |
| KMT2Blysine methyltransferase 2B | Visada | 1 ligoje |
| LIPT1lipoyltransferase 1 | Visada | 1 ligoje |
| LRRC7leucine rich repeat containing 7 | Visada | 1 ligoje |
Rodyti dar 415 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| MECP2methyl-CpG binding protein 2 | Visada | 4 ligose |
| MMADHCmetabolism of cobalamin associated D | Visada | 2 ligose |
| MRE11MRE11 double strand break repair nuclease | Visada | 2 ligose |
| NADK2NAD kinase 2, mitochondrial | Visada | 2 ligose |
| NAV3neuron navigator 3 | Visada | 1 ligoje |
| NDUFA12NADH:ubiquinone oxidoreductase subunit A12 | Visada | 1 ligoje |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Visada | 1 ligoje |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Visada | 1 ligoje |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Visada | 1 ligoje |
| NDUFAF6NADH:ubiquinone oxidoreductase complex assembly factor 6 | Visada | 1 ligoje |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Visada | 1 ligoje |
| NKX6-2NK6 homeobox 2 | Visada | 2 ligose |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Visada | 2 ligose |
| OGDHoxoglutarate dehydrogenase | Visada | 1 ligoje |
| PCDH12protocadherin 12 | Visada | 1 ligoje |
| PDE2Aphosphodiesterase 2A | Visada | 1 ligoje |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Visada | 1 ligoje |
| PLA2G6phospholipase A2 group VI | Visada | 4 ligose |
| PNPLA8patatin like domain 8, phospholipase A2 | Visada | 1 ligoje |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Visada | 1 ligoje |
| POLGDNA polymerase gamma, catalytic subunit | Visada | 2 ligose |
| POLR1ARNA polymerase I subunit A | Visada | 1 ligoje |
| POLR3BRNA polymerase III subunit B | Visada | 2 ligose |
| POLR3KRNA polymerase III subunit K | Visada | 1 ligoje |
| RAB32RAB32, member RAS oncogene family | Visada | 1 ligoje |
| RFC4replication factor C subunit 4 | Visada | 1 ligoje |
| RNU2-2RNA, U2 small nuclear 2 | Visada | 1 ligoje |
| RPS6KC1ribosomal protein S6 kinase C1 | Visada | 1 ligoje |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Visada | 4 ligose |
| SCP2sterol carrier protein 2 | Visada | 1 ligoje |
| SDHDsuccinate dehydrogenase complex subunit D | Visada | 1 ligoje |
| SERAC1serine active site containing 1 | Visada | 2 ligose |
| SHQ1SHQ1, H/ACA ribonucleoprotein assembly factor | Visada | 2 ligose |
| SLC18A2solute carrier family 18 member A2 | Visada | 2 ligose |
| SLC19A3solute carrier family 19 member 3 | Visada | 2 ligose |
| SLC30A9solute carrier family 30 member 9 | Visada | 1 ligoje |
| SLC39A14solute carrier family 39 member 14 | Visada | 2 ligose |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Visada | 1 ligoje |
| SYNJ1synaptojanin 1 | Visada | 4 ligose |
| TGIF1TGFB induced factor homeobox 1 | Visada | 1 ligoje |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Visada | 2 ligose |
| TOR1Atorsin family 1 member A | Visada | 2 ligose |
| TRAPPC12trafficking protein particle complex subunit 12 | Visada | 2 ligose |
| TREX1three prime repair exonuclease 1 | Visada | 2 ligose |
| TTPAalpha tocopherol transfer protein | Visada | 2 ligose |
| UBA5ubiquitin like modifier activating enzyme 5 | Visada | 1 ligoje |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Visada | 1 ligoje |
| UQCRQubiquinol-cytochrome c reductase complex III subunit VII | Visada | 1 ligoje |
| VAC14VAC14 component of PIKFYVE complex | Visada | 1 ligoje |
| VPS16VPS16 core subunit of CORVET and HOPS complexes | Visada | 1 ligoje |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Visada | 3 ligose |
| WDR45WD repeat domain 45 | Visada | 2 ligose |
| ATXN3ataxin 3 | Labai dažnai (80–99%) | 5 ligose |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Labai dažnai (80–99%) | 1 ligoje |
| DCAF17DDB1 and CUL4 associated factor 17 | Labai dažnai (80–99%) | 2 ligose |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Labai dažnai (80–99%) | 3 ligose |
| DRD2dopamine receptor D2 | Labai dažnai (80–99%) | 1 ligoje |
| FTLferritin light chain | Labai dažnai (80–99%) | 2 ligose |
| GBA1glucosylceramidase beta 1 | Labai dažnai (80–99%) | 3 ligose |
| GM2Aganglioside GM2 activator | Labai dažnai (80–99%) | 2 ligose |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Labai dažnai (80–99%) | 2 ligose |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Labai dažnai (80–99%) | 2 ligose |
| KCNJ10potassium inwardly rectifying channel subfamily J member 10 | Labai dažnai (80–99%) | 1 ligoje |
| KCTD17potassium channel tetramerization domain containing 17 | Labai dažnai (80–99%) | 2 ligose |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Labai dažnai (80–99%) | 2 ligose |
| MED27mediator complex subunit 27 | Labai dažnai (80–99%) | 1 ligoje |
| MLYCDmalonyl-CoA decarboxylase | Labai dažnai (80–99%) | 1 ligoje |
| MPV17mitochondrial inner membrane protein MPV17 | Labai dažnai (80–99%) | 1 ligoje |
| PANK2pantothenate kinase 2 | Labai dažnai (80–99%) | 1 ligoje |
| PLP1proteolipid protein 1 | Labai dažnai (80–99%) | 2 ligose |
| PNKDPNKD metallo-beta-lactamase domain containing | Labai dažnai (80–99%) | 1 ligoje |
| PODXLpodocalyxin like | Labai dažnai (80–99%) | 2 ligose |
| PRRT2proline rich transmembrane protein 2 | Labai dažnai (80–99%) | 4 ligose |
| PSAPprosaposin | Labai dažnai (80–99%) | 4 ligose |
| SGCEsarcoglycan epsilon | Labai dažnai (80–99%) | 1 ligoje |
| SLC2A1solute carrier family 2 member 1 | Labai dažnai (80–99%) | 7 ligose |
| SLC30A10solute carrier family 30 member 10 | Labai dažnai (80–99%) | 2 ligose |
| SLC6A3solute carrier family 6 member 3 | Labai dažnai (80–99%) | 2 ligose |
| TBC1D24TBC1 domain family member 24 | Labai dažnai (80–99%) | 2 ligose |
| THAP1THAP domain containing 1 | Labai dažnai (80–99%) | 1 ligoje |
| TMEM151Atransmembrane protein 151A | Labai dažnai (80–99%) | 1 ligoje |
| TSEN54tRNA splicing endonuclease subunit 54 | Labai dažnai (80–99%) | 1 ligoje |
| TUBB4Atubulin beta 4A class IVa | Labai dažnai (80–99%) | 1 ligoje |
| VPS4Avacuolar protein sorting 4 homolog A | Labai dažnai (80–99%) | 1 ligoje |
| AARS1alanyl-tRNA synthetase 1 | Dažnai (30–79%) | 1 ligoje |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Dažnai (30–79%) | 1 ligoje |
| ACBD6acyl-CoA binding domain containing 6 | Dažnai (30–79%) | 1 ligoje |
| ADARadenosine deaminase RNA specific | Dažnai (30–79%) | 3 ligose |
| AFG2BAAA ATPase AFG2B | Dažnai (30–79%) | 1 ligoje |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Dažnai (30–79%) | 1 ligoje |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Dažnai (30–79%) | 1 ligoje |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Dažnai (30–79%) | 2 ligose |
| AMPD2adenosine monophosphate deaminase 2 | Dažnai (30–79%) | 1 ligoje |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Dažnai (30–79%) | 2 ligose |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Dažnai (30–79%) | 1 ligoje |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Dažnai (30–79%) | 1 ligoje |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Dažnai (30–79%) | 1 ligoje |
| APTXaprataxin | Dažnai (30–79%) | 1 ligoje |
| AQP4aquaporin 4 | Dažnai (30–79%) | 2 ligose |
| ARSAarylsulfatase A | Dažnai (30–79%) | 4 ligose |
| ATCAYATCAY kinesin light chain interacting caytaxin | Dažnai (30–79%) | 1 ligoje |
| ATP13A2ATPase cation transporting 13A2 | Dažnai (30–79%) | 4 ligose |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Dažnai (30–79%) | 2 ligose |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Dažnai (30–79%) | 5 ligose |
| ATP5F1AATP synthase F1 subunit alpha | Dažnai (30–79%) | 2 ligose |
| ATP7BATPase copper transporting beta | Dažnai (30–79%) | 2 ligose |
| ATXN1ataxin 1 | Dažnai (30–79%) | 1 ligoje |
| ATXN2ataxin 2 | Dažnai (30–79%) | 2 ligose |
| ATXN8ataxin 8 | Dažnai (30–79%) | 1 ligoje |
| ATXN8OSATXN8 opposite strand lncRNA | Dažnai (30–79%) | 2 ligose |
| BORCS8BLOC-1 related complex subunit 8 | Dažnai (30–79%) | 1 ligoje |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Dažnai (30–79%) | 4 ligose |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Dažnai (30–79%) | 2 ligose |
| CASKcalcium/calmodulin dependent serine protein kinase | Dažnai (30–79%) | 2 ligose |
| CDKL5cyclin dependent kinase like 5 | Dažnai (30–79%) | 3 ligose |
| COXFA4cytochrome c oxidase associated subunit FA4 | Dažnai (30–79%) | 1 ligoje |
| CPceruloplasmin | Dažnai (30–79%) | 1 ligoje |
| CRLS1cardiolipin synthase 1 | Dažnai (30–79%) | 1 ligoje |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Dažnai (30–79%) | 1 ligoje |
| DDCdopa decarboxylase | Dažnai (30–79%) | 1 ligoje |
| DLATdihydrolipoamide S-acetyltransferase | Dažnai (30–79%) | 1 ligoje |
| DNAJC12DnaJ heat shock protein family (Hsp40) member C12 | Dažnai (30–79%) | 1 ligoje |
| ECM1extracellular matrix protein 1 | Dažnai (30–79%) | 1 ligoje |
| ERLIN1ER lipid raft associated 1 | Dažnai (30–79%) | 1 ligoje |
| FA2Hfatty acid 2-hydroxylase | Dažnai (30–79%) | 1 ligoje |
| FBLN1fibulin 1 | Dažnai (30–79%) | 1 ligoje |
| FBXO7F-box protein 7 | Dažnai (30–79%) | 2 ligose |
| FTH1ferritin heavy chain 1 | Dažnai (30–79%) | 1 ligoje |
| FUSFUS RNA binding protein | Dažnai (30–79%) | 1 ligoje |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Dažnai (30–79%) | 2 ligose |
| GCDHglutaryl-CoA dehydrogenase | Dažnai (30–79%) | 2 ligose |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Dažnai (30–79%) | 1 ligoje |
| GPRC5BG protein-coupled receptor class C group 5 member B | Dažnai (30–79%) | 2 ligose |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Dažnai (30–79%) | 2 ligose |
| GTPBP2GTP binding protein 2 | Dažnai (30–79%) | 1 ligoje |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Dažnai (30–79%) | 2 ligose |
| HIVEP2HIVEP zinc finger 2 | Dažnai (30–79%) | 1 ligoje |
| HPRT1hypoxanthine phosphoribosyltransferase 1 | Dažnai (30–79%) | 2 ligose |
| IFIH1interferon induced with helicase C domain 1 | Dažnai (30–79%) | 2 ligose |
| IRF2BPLinterferon regulatory factor 2 binding protein like | Dažnai (30–79%) | 1 ligoje |
| KCNQ3potassium voltage-gated channel subfamily Q member 3 | Dažnai (30–79%) | 1 ligoje |
| LIPT2lipoyl(octanoyl) transferase 2 | Dažnai (30–79%) | 1 ligoje |
| LSM11LSM11, U7 small nuclear RNA associated | Dažnai (30–79%) | 1 ligoje |
| MAPTmicrotubule associated protein tau | Dažnai (30–79%) | 3 ligose |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Dažnai (30–79%) | 2 ligose |
| MDH2malate dehydrogenase 2 | Dažnai (30–79%) | 1 ligoje |
| MED23mediator complex subunit 23 | Dažnai (30–79%) | 1 ligoje |
| MICU1mitochondrial calcium uptake 1 | Dažnai (30–79%) | 2 ligose |
| MMUTmethylmalonyl-CoA mutase | Dažnai (30–79%) | 2 ligose |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Dažnai (30–79%) | 4 ligose |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Dažnai (30–79%) | 2 ligose |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Dažnai (30–79%) | 2 ligose |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Dažnai (30–79%) | 1 ligoje |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Dažnai (30–79%) | 2 ligose |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Dažnai (30–79%) | 2 ligose |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Dažnai (30–79%) | 2 ligose |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Dažnai (30–79%) | 1 ligoje |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Dažnai (30–79%) | 1 ligoje |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Dažnai (30–79%) | 1 ligoje |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Dažnai (30–79%) | 1 ligoje |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Dažnai (30–79%) | 1 ligoje |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Dažnai (30–79%) | 3 ligose |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Dažnai (30–79%) | 1 ligoje |
| NIT1nitrilase 1 | Dažnai (30–79%) | 1 ligoje |
| NTNG1netrin G1 | Dažnai (30–79%) | 1 ligoje |
| NUP54nucleoporin 54 | Dažnai (30–79%) | 1 ligoje |
| NUP62nucleoporin 62 | Dažnai (30–79%) | 2 ligose |
| OCLNoccludin | Dažnai (30–79%) | 1 ligoje |
| PI4KAphosphatidylinositol 4-kinase alpha | Dažnai (30–79%) | 1 ligoje |
| PLAAphospholipase A2 activating protein | Dažnai (30–79%) | 1 ligoje |
| PLEKHG2pleckstrin homology and RhoGEF domain containing G2 | Dažnai (30–79%) | 1 ligoje |
| PMPCBpeptidase, mitochondrial processing subunit beta | Dažnai (30–79%) | 1 ligoje |
| PNKPpolynucleotide kinase 3'-phosphatase | Dažnai (30–79%) | 3 ligose |
| POLR3ARNA polymerase III subunit A | Dažnai (30–79%) | 2 ligose |
| PPIL1peptidylprolyl isomerase like 1 | Dažnai (30–79%) | 1 ligoje |
| RAB11BRAB11B, member RAS oncogene family | Dažnai (30–79%) | 1 ligoje |
| RARS1arginyl-tRNA synthetase 1 | Dažnai (30–79%) | 2 ligose |
| REPS1RALBP1 associated Eps domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| RHOBTB2Rho related BTB domain containing 2 | Dažnai (30–79%) | 3 ligose |
| RNASEH2Aribonuclease H2 subunit A | Dažnai (30–79%) | 2 ligose |
| RNASEH2Bribonuclease H2 subunit B | Dažnai (30–79%) | 2 ligose |
| RNASEH2Cribonuclease H2 subunit C | Dažnai (30–79%) | 2 ligose |
| RNU7-1RNA, U7 small nuclear 1 | Dažnai (30–79%) | 2 ligose |
| RRP12ribosomal RNA processing 12 homolog | Dažnai (30–79%) | 2 ligose |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Dažnai (30–79%) | 1 ligoje |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Dažnai (30–79%) | 1 ligoje |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Dažnai (30–79%) | 1 ligoje |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Dažnai (30–79%) | 1 ligoje |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Dažnai (30–79%) | 1 ligoje |
| SIGMAR1sigma receptor chaperone 1 | Dažnai (30–79%) | 1 ligoje |
| SLC16A2solute carrier family 16 member 2 | Dažnai (30–79%) | 1 ligoje |
| SLC1A3solute carrier family 1 member 3 | Dažnai (30–79%) | 1 ligoje |
| SLC2A3solute carrier family 2 member 3 | Dažnai (30–79%) | 1 ligoje |
| SLC44A1solute carrier family 44 member 1 | Dažnai (30–79%) | 1 ligoje |
| SLC6A8solute carrier family 6 member 8 | Dažnai (30–79%) | 2 ligose |
| SMC1Astructural maintenance of chromosomes 1A | Dažnai (30–79%) | 1 ligoje |
| SNAPC4small nuclear RNA activating complex polypeptide 4 | Dažnai (30–79%) | 1 ligoje |
| SNCAsynuclein alpha | Dažnai (30–79%) | 4 ligose |
| SORDsorbitol dehydrogenase | Dažnai (30–79%) | 1 ligoje |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Dažnai (30–79%) | 1 ligoje |
| SPRsepiapterin reductase | Dažnai (30–79%) | 2 ligose |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Dažnai (30–79%) | 1 ligoje |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Dažnai (30–79%) | 1 ligoje |
| SPTSSAserine palmitoyltransferase small subunit A | Dažnai (30–79%) | 1 ligoje |
| SQSTM1sequestosome 1 | Dažnai (30–79%) | 1 ligoje |
| STN1STN1 subunit of CST complex | Dažnai (30–79%) | 1 ligoje |
| STUB1STIP1 homology and U-box containing protein 1 | Dažnai (30–79%) | 1 ligoje |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Dažnai (30–79%) | 1 ligoje |
| TARDBPTAR DNA binding protein | Dažnai (30–79%) | 1 ligoje |
| TBPTATA-box binding protein | Dažnai (30–79%) | 3 ligose |
| TM2D3TM2 domain containing 3 | Dažnai (30–79%) | 1 ligoje |
| TNRtenascin R | Dažnai (30–79%) | 1 ligoje |
| TPK1thiamin pyrophosphokinase 1 | Dažnai (30–79%) | 1 ligoje |
| TRMT2BtRNA methyltransferase 2B | Dažnai (30–79%) | 1 ligoje |
| TSEN2tRNA splicing endonuclease subunit 2 | Dažnai (30–79%) | 1 ligoje |
| TTC19tetratricopeptide repeat domain 19 | Dažnai (30–79%) | 1 ligoje |
| UBQLN2ubiquilin 2 | Dažnai (30–79%) | 2 ligose |
| UBTFupstream binding transcription factor | Dažnai (30–79%) | 2 ligose |
| WDR73WD repeat domain 73 | Dažnai (30–79%) | 1 ligoje |
| XKX-linked Kx blood group antigen, Kell and VPS13A binding protein | Dažnai (30–79%) | 1 ligoje |
| ZNF142zinc finger protein 142 | Dažnai (30–79%) | 1 ligoje |
| ABCD1ATP binding cassette subfamily D member 1 | Kartais (5–29%) | 1 ligoje |
| ACADSacyl-CoA dehydrogenase short chain | Kartais (5–29%) | 1 ligoje |
| ACSF3acyl-CoA synthetase family member 3 | Kartais (5–29%) | 1 ligoje |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Kartais (5–29%) | 1 ligoje |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Kartais (5–29%) | 1 ligoje |
| ASLargininosuccinate lyase | Kartais (5–29%) | 1 ligoje |
| ATAD3AATPase family AAA domain containing 3A | Kartais (5–29%) | 1 ligoje |
| ATG7autophagy related 7 | Kartais (5–29%) | 1 ligoje |
| ATN1atrophin 1 | Kartais (5–29%) | 1 ligoje |
| ATP5F1DATP synthase F1 subunit delta | Kartais (5–29%) | 1 ligoje |
| ATP5F1EATP synthase F1 subunit epsilon | Kartais (5–29%) | 1 ligoje |
| ATP5MKATP synthase membrane subunit k | Kartais (5–29%) | 1 ligoje |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Kartais (5–29%) | 1 ligoje |
| AUHAU RNA binding methylglutaconyl-CoA hydratase | Kartais (5–29%) | 2 ligose |
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Kartais (5–29%) | 2 ligose |
| BCAS3BCAS3 microtubule associated cell migration factor | Kartais (5–29%) | 1 ligoje |
| BCKDKbranched chain keto acid dehydrogenase kinase | Kartais (5–29%) | 1 ligoje |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Kartais (5–29%) | 1 ligoje |
| CARS1cysteinyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| CBScystathionine beta-synthase | Kartais (5–29%) | 1 ligoje |
| CDC40cell division cycle 40 | Kartais (5–29%) | 1 ligoje |
| CLPBClpB family mitochondrial disaggregase | Kartais (5–29%) | 1 ligoje |
| CLTCclathrin heavy chain | Kartais (5–29%) | 1 ligoje |
| CMPK2cytidine/uridine monophosphate kinase 2 | Kartais (5–29%) | 1 ligoje |
| COL4A1collagen type IV alpha 1 chain | Kartais (5–29%) | 1 ligoje |
| COPB1coat protein complex I subunit beta 1 | Kartais (5–29%) | 1 ligoje |
| CUX2cut like homeobox 2 | Kartais (5–29%) | 1 ligoje |
| CYP2U1cytochrome P450 family 2 subfamily U member 1 | Kartais (5–29%) | 2 ligose |
| DCTN1dynactin subunit 1 | Kartais (5–29%) | 1 ligoje |
| DHX30DExH-box helicase 30 | Kartais (5–29%) | 1 ligoje |
| DNAJC13DnaJ heat shock protein family (Hsp40) member C13 | Kartais (5–29%) | 1 ligoje |
| DNM1Ldynamin 1L | Kartais (5–29%) | 1 ligoje |
| EIF4G1eukaryotic translation initiation factor 4 gamma 1 | Kartais (5–29%) | 1 ligoje |
| EMC1ER membrane protein complex subunit 1 | Kartais (5–29%) | 1 ligoje |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Kartais (5–29%) | 1 ligoje |
| FBXL4F-box and leucine rich repeat protein 4 | Kartais (5–29%) | 1 ligoje |
| FHfumarate hydratase | Kartais (5–29%) | 1 ligoje |
| FLVCR1FLVCR choline and heme transporter 1 | Kartais (5–29%) | 1 ligoje |
| FRMD5FERM domain containing 5 | Kartais (5–29%) | 1 ligoje |
| FXNfrataxin | Kartais (5–29%) | 1 ligoje |
| GAD1glutamate decarboxylase 1 | Kartais (5–29%) | 1 ligoje |
| GALTgalactose-1-phosphate uridylyltransferase | Kartais (5–29%) | 1 ligoje |
| GAMTguanidinoacetate N-methyltransferase | Kartais (5–29%) | 1 ligoje |
| GFM1G elongation factor mitochondrial 1 | Kartais (5–29%) | 1 ligoje |
| GIGYF2GRB10 interacting GYF protein 2 | Kartais (5–29%) | 1 ligoje |
| GNAO1G protein subunit alpha o1 | Kartais (5–29%) | 3 ligose |
| GNB1G protein subunit beta 1 | Kartais (5–29%) | 1 ligoje |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Kartais (5–29%) | 1 ligoje |
| H4C5H4 clustered histone 5 | Kartais (5–29%) | 1 ligoje |
| HEPACAMhepatic and glial cell adhesion molecule | Kartais (5–29%) | 1 ligoje |
| HEXBhexosaminidase subunit beta | Kartais (5–29%) | 1 ligoje |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Kartais (5–29%) | 1 ligoje |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Kartais (5–29%) | 1 ligoje |
| HTRA2HtrA serine peptidase 2 | Kartais (5–29%) | 2 ligose |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Kartais (5–29%) | 1 ligoje |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Kartais (5–29%) | 1 ligoje |
| ISCA2iron-sulfur cluster assembly 2 | Kartais (5–29%) | 1 ligoje |
| JAM2junctional adhesion molecule 2 | Kartais (5–29%) | 2 ligose |
| JPH3junctophilin 3 | Kartais (5–29%) | 2 ligose |
| KAT6Alysine acetyltransferase 6A | Kartais (5–29%) | 2 ligose |
| KCNMA1potassium calcium-activated channel subfamily M alpha 1 | Kartais (5–29%) | 1 ligoje |
| KDM6Blysine demethylase 6B | Kartais (5–29%) | 1 ligoje |
| KICS2KICSTOR subunit 2 | Kartais (5–29%) | 1 ligoje |
| KLHL20kelch like family member 20 | Kartais (5–29%) | 1 ligoje |
| LONP1lon peptidase 1, mitochondrial | Kartais (5–29%) | 1 ligoje |
| LRPPRCleucine rich pentatricopeptide repeat containing | Kartais (5–29%) | 1 ligoje |
| LRRK2leucine rich repeat kinase 2 | Kartais (5–29%) | 2 ligose |
| MLC1modulator of VRAC current 1 | Kartais (5–29%) | 1 ligoje |
| MOGSmannosyl-oligosaccharide glucosidase | Kartais (5–29%) | 1 ligoje |
| MRPS34mitochondrial ribosomal protein S34 | Kartais (5–29%) | 1 ligoje |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Kartais (5–29%) | 1 ligoje |
| MTO1mitochondrial tRNA translation optimization 1 | Kartais (5–29%) | 1 ligoje |
| MYORGmyogenesis regulating glycosidase | Kartais (5–29%) | 3 ligose |
| NAXDNAD(P)HX dehydratase | Kartais (5–29%) | 2 ligose |
| NBEAneurobeachin | Kartais (5–29%) | 1 ligoje |
| NGLY1N-glycanase 1 | Kartais (5–29%) | 1 ligoje |
| NKX2-1NK2 homeobox 1 | Kartais (5–29%) | 2 ligose |
| OFD1OFD1 centriole and centriolar satellite protein | Kartais (5–29%) | 1 ligoje |
| PARK7Parkinsonism associated deglycase | Kartais (5–29%) | 1 ligoje |
| PDGFBplatelet derived growth factor subunit B | Kartais (5–29%) | 2 ligose |
| PDGFRBplatelet derived growth factor receptor beta | Kartais (5–29%) | 2 ligose |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Kartais (5–29%) | 2 ligose |
| PGBD5piggyBac transposable element derived 5 | Kartais (5–29%) | 1 ligoje |
| PIK3R5phosphoinositide-3-kinase regulatory subunit 5 | Kartais (5–29%) | 1 ligoje |
| PINK1PTEN induced kinase 1 | Kartais (5–29%) | 2 ligose |
| PPFIBP1PPFIB scaffold protein 1 | Kartais (5–29%) | 1 ligoje |
| PRKNparkin RBR E3 ubiquitin protein ligase | Kartais (5–29%) | 2 ligose |
| PTS6-pyruvoyltetrahydropterin synthase | Kartais (5–29%) | 2 ligose |
| PURApurine rich element binding protein A | Kartais (5–29%) | 1 ligoje |
| RFX7regulatory factor X7 | Kartais (5–29%) | 1 ligoje |
| RNASET2ribonuclease T2 | Kartais (5–29%) | 1 ligoje |
| SETXsenataxin | Kartais (5–29%) | 2 ligose |
| SH2B1SH2B adaptor protein 1 | Kartais (5–29%) | 1 ligoje |
| SLC13A5solute carrier family 13 member 5 | Kartais (5–29%) | 1 ligoje |
| SLC20A2solute carrier family 20 member 2 | Kartais (5–29%) | 2 ligose |
| SLC32A1solute carrier family 32 member 1 | Kartais (5–29%) | 2 ligose |
| SLC39A8solute carrier family 39 member 8 | Kartais (5–29%) | 1 ligoje |
| SLITRK2SLIT and NTRK like family member 2 | Kartais (5–29%) | 1 ligoje |
| SNORD118small nucleolar RNA, C/D box 118 | Kartais (5–29%) | 2 ligose |
| SPOPspeckle type BTB/POZ protein | Kartais (5–29%) | 1 ligoje |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Kartais (5–29%) | 1 ligoje |
| SPTBN1spectrin beta, non-erythrocytic 1 | Kartais (5–29%) | 1 ligoje |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Kartais (5–29%) | 1 ligoje |
| SYT1synaptotagmin 1 | Kartais (5–29%) | 2 ligose |
| TAF1TATA-box binding protein associated factor 1 | Kartais (5–29%) | 2 ligose |
| TANGO2transport and golgi organization 2 homolog | Kartais (5–29%) | 2 ligose |
| TMEM163transmembrane protein 163 | Kartais (5–29%) | 1 ligoje |
| TMEM240transmembrane protein 240 | Kartais (5–29%) | 1 ligoje |
| TMEM67transmembrane protein 67 | Kartais (5–29%) | 1 ligoje |
| TUBB3tubulin beta 3 class III | Kartais (5–29%) | 1 ligoje |
| UCHL1ubiquitin C-terminal hydrolase L1 | Kartais (5–29%) | 1 ligoje |
| UGDHUDP-glucose 6-dehydrogenase | Kartais (5–29%) | 1 ligoje |
| UPB1beta-ureidopropionase 1 | Kartais (5–29%) | 1 ligoje |
| VAMP1vesicle associated membrane protein 1 | Kartais (5–29%) | 2 ligose |
| VAMP2vesicle associated membrane protein 2 | Kartais (5–29%) | 1 ligoje |
| VPS13Cvacuolar protein sorting 13 homolog C | Kartais (5–29%) | 1 ligoje |
| VPS35VPS35 retromer complex component | Kartais (5–29%) | 1 ligoje |
| VPS37AVPS37A subunit of ESCRT-I | Kartais (5–29%) | 1 ligoje |
| WDR83OSWD repeat domain 83 opposite strand | Kartais (5–29%) | 1 ligoje |
| XPR1xenotropic and polytropic retrovirus receptor 1 | Kartais (5–29%) | 2 ligose |
| YY1YY1 transcription factor | Kartais (5–29%) | 2 ligose |
| ARXaristaless related homeobox | Retai (1–4 %) | 2 ligose |
| COQ8Acoenzyme Q8A | Retai (1–4 %) | 1 ligoje |
| CTCFCCCTC-binding factor | Retai (1–4 %) | 1 ligoje |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Retai (1–4 %) | 1 ligoje |
| GLE1GLE1 RNA export mediator | Retai (1–4 %) | 1 ligoje |
| GRIA2glutamate ionotropic receptor AMPA type subunit 2 | Retai (1–4 %) | 1 ligoje |
| GRM7glutamate metabotropic receptor 7 | Retai (1–4 %) | 1 ligoje |
| LGI1leucine rich glioma inactivated 1 | Retai (1–4 %) | 1 ligoje |
| NEUROD2neuronal differentiation 2 | Retai (1–4 %) | 1 ligoje |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Retai (1–4 %) | 1 ligoje |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Retai (1–4 %) | 1 ligoje |
| RNU4-2RNA, U4 small nuclear 2 | Retai (1–4 %) | 1 ligoje |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Retai (1–4 %) | 1 ligoje |
| SIK1salt inducible kinase 1 | Retai (1–4 %) | 1 ligoje |
| SLC25A22solute carrier family 25 member 22 | Retai (1–4 %) | 1 ligoje |
| SPRED1sprouty related EVH1 domain containing 1 | Retai (1–4 %) | 1 ligoje |
| STXBP1syntaxin binding protein 1 | Retai (1–4 %) | 1 ligoje |
| TBCDtubulin folding cofactor D | Retai (1–4 %) | 1 ligoje |
| TRIM8tripartite motif containing 8 | Retai (1–4 %) | 1 ligoje |
| TTBK2tau tubulin kinase 2 | Retai (1–4 %) | 1 ligoje |
| ACOX1acyl-CoA oxidase 1 | Neužfiksuota | 1 ligoje |
| ADH1Calcohol dehydrogenase 1C (class I), gamma polypeptide | Neužfiksuota | 1 ligoje |
| APOEapolipoprotein E | Neužfiksuota | 1 ligoje |
| ATMATM serine/threonine kinase | Neužfiksuota | 1 ligoje |
| ATP5MC3ATP synthase membrane subunit c locus 3 | Neužfiksuota | 1 ligoje |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Neužfiksuota | 1 ligoje |
| C19orf12chromosome 19 open reading frame 12 | Neužfiksuota | 1 ligoje |
| CHMP2Bcharged multivesicular body protein 2B | Neužfiksuota | 1 ligoje |
| CHRNA2cholinergic receptor nicotinic alpha 2 subunit | Neužfiksuota | 1 ligoje |
| CKAP2Lcytoskeleton associated protein 2L | Neužfiksuota | 1 ligoje |
| CNTNAP1contactin associated protein 1 | Neužfiksuota | 1 ligoje |
| CTC1CST telomere replication complex component 1 | Neužfiksuota | 1 ligoje |
| DEGS1delta 4-desaturase, sphingolipid 1 | Neužfiksuota | 1 ligoje |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Neužfiksuota | 1 ligoje |
| EARS2glutamyl-tRNA synthetase 2, mitochondrial | Neužfiksuota | 1 ligoje |
| ECHS1enoyl-CoA hydratase, short chain 1 | Neužfiksuota | 1 ligoje |
| FOXG1forkhead box G1 | Neužfiksuota | 1 ligoje |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Neužfiksuota | 1 ligoje |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Neužfiksuota | 1 ligoje |
| GJC2gap junction protein gamma 2 | Neužfiksuota | 1 ligoje |
| GLB1galactosidase beta 1 | Neužfiksuota | 1 ligoje |
| IREB2iron responsive element binding protein 2 | Neužfiksuota | 1 ligoje |
| MAT1Amethionine adenosyltransferase 1A | Neužfiksuota | 1 ligoje |
| MCOLN1mucolipin TRP cation channel 1 | Neužfiksuota | 1 ligoje |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Neužfiksuota | 1 ligoje |
| MT-CYBmitochondrially encoded cytochrome b | Neužfiksuota | 1 ligoje |
| MT-ND4Lmitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L | Neužfiksuota | 1 ligoje |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Neužfiksuota | 1 ligoje |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Neužfiksuota | 1 ligoje |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Neužfiksuota | 1 ligoje |
| NPC1NPC intracellular cholesterol transporter 1 | Neužfiksuota | 1 ligoje |
| NPC2NPC intracellular cholesterol transporter 2 | Neužfiksuota | 1 ligoje |
| PCCApropionyl-CoA carboxylase subunit alpha | Neužfiksuota | 1 ligoje |
| PCCBpropionyl-CoA carboxylase subunit beta | Neužfiksuota | 1 ligoje |
| PDHXpyruvate dehydrogenase complex component X | Neužfiksuota | 1 ligoje |
| PSEN1presenilin 1 | Neužfiksuota | 1 ligoje |
| QDPRquinoid dihydropteridine reductase | Neužfiksuota | 1 ligoje |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Neužfiksuota | 1 ligoje |
| SLC25A42solute carrier family 25 member 42 | Neužfiksuota | 1 ligoje |
| SNCAIPsynuclein alpha interacting protein | Neužfiksuota | 1 ligoje |
| SURF1SURF1 cytochrome c oxidase assembly factor | Neužfiksuota | 1 ligoje |
| TMEM106Btransmembrane protein 106B | Neužfiksuota | 1 ligoje |
| TPI1triosephosphate isomerase 1 | Neužfiksuota | 1 ligoje |
| TRAPPC11trafficking protein particle complex subunit 11 | Neužfiksuota | 1 ligoje |
| TRIT1tRNA isopentenyltransferase 1 | Neužfiksuota | 1 ligoje |
| TSEN34tRNA splicing endonuclease subunit 34 | Neužfiksuota | 1 ligoje |
| TSFMTs translation elongation factor, mitochondrial | Neužfiksuota | 1 ligoje |
| TXN2thioredoxin 2 | Neužfiksuota | 1 ligoje |
| UFM1ubiquitin fold modifier 1 | Neužfiksuota | 1 ligoje |
| VCPvalosin containing protein | Neužfiksuota | 1 ligoje |
| VPS13Avacuolar protein sorting 13 homolog A | Neužfiksuota | 1 ligoje |
| VPS13Dvacuolar protein sorting 13 homolog D | Neužfiksuota | 1 ligoje |
| ZC4H2zinc finger C4H2-type containing | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
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