Cecha
Jerking
Nazwa kliniczna: Myoclonus
Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.
Podsumowanie
- Znana także jako
- Myoclonic jerks
- Układ organizmu
- Abnormality of the nervous system
Genom referencyjnyGRCh38hg38
Pozycje na stronach genów i wariantów zależą od tego wyboru, w tej przeglądarce.
Read the genes linked to Jerking, and the rest of your genome, with one test.
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Zamawiam Genome Test352 genów powiązanych z Jerking
Zmiany w tych genach powodują rzadkie choroby, w których występuje Jerking. Większość osób z tą cechą nie ma żadnej z tych chorób, a gen z tej listy nic nie mówi o czyimkolwiek własnym genomie.
| Gen | Jak często występuje | Choroby |
|---|---|---|
| ABCB7ATP binding cassette subfamily B member 7 | Zawsze | W 1 chorobie |
| ADCY5adenylate cyclase 5 | Zawsze | W 4 chorobach |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Zawsze | W 3 chorobach |
| AHDC1AT-hook DNA binding motif containing 1 | Zawsze | W 1 chorobie |
| APTXaprataxin | Zawsze | W 1 chorobie |
| ATP6V0A1ATPase H+ transporting V0 subunit a1 | Zawsze | W 1 chorobie |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Zawsze | W 2 chorobach |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Zawsze | W 1 chorobie |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Zawsze | W 1 chorobie |
| CERS1ceramide synthase 1 | Zawsze | W 1 chorobie |
| CLN5CLN5 lysosomal BMP synthase | Zawsze | W 1 chorobie |
| CLN8CLN8 transmembrane ER and ERGIC protein | Zawsze | W 1 chorobie |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Zawsze | W 2 chorobach |
| CNTN2contactin 2 | Zawsze | W 2 chorobach |
| COG8component of oligomeric golgi complex 8 | Zawsze | W 2 chorobach |
| COQ2coenzyme Q2, polyprenyltransferase | Zawsze | W 1 chorobie |
| CSTBcystatin B | Zawsze | W 2 chorobach |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Zawsze | W 1 chorobie |
| DNM1Ldynamin 1L | Zawsze | W 1 chorobie |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Zawsze | W 2 chorobach |
| FLVCR1FLVCR choline and heme transporter 1 | Zawsze | W 1 chorobie |
| GCSHglycine cleavage system protein H | Zawsze | W 1 chorobie |
| GLRBglycine receptor beta | Zawsze | W 2 chorobach |
| GOSR2golgi SNAP receptor complex member 2 | Zawsze | W 1 chorobie |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Zawsze | W 3 chorobach |
| GTF3C3general transcription factor IIIC subunit 3 | Zawsze | W 1 chorobie |
| GTPBP1GTP binding protein 1 | Zawsze | W 1 chorobie |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Zawsze | W 1 chorobie |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Zawsze | W 2 chorobach |
| JKAMPJNK1/MAPK8 associated membrane protein | Zawsze | W 1 chorobie |
| KCNC1potassium voltage-gated channel subfamily C member 1 | Zawsze | W 1 chorobie |
| KIF5Akinesin family member 5A | Zawsze | W 1 chorobie |
| MAU2MAU2 sister chromatid cohesion factor | Zawsze | W 1 chorobie |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Zawsze | W 2 chorobach |
| MRAPmelanocortin 2 receptor accessory protein | Zawsze | W 1 chorobie |
| NFU1NFU1 iron-sulfur cluster scaffold | Zawsze | W 1 chorobie |
| NHLRC1NHL repeat containing E3 ubiquitin protein ligase 1 | Zawsze | W 2 chorobach |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Zawsze | W 1 chorobie |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Zawsze | W 3 chorobach |
| POLR1ARNA polymerase I subunit A | Zawsze | W 1 chorobie |
Pokaż jeszcze 312 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| PRNPprion protein (Kanno blood group) | Zawsze | W 5 chorobach |
| PSAPprosaposin | Zawsze | W 5 chorobach |
| PTCD3pentatricopeptide repeat domain 3 | Zawsze | W 1 chorobie |
| RFT1RFT1 glycolipid translocator homolog | Zawsze | W 1 chorobie |
| RNU2-2RNA, U2 small nuclear 2 | Zawsze | W 1 chorobie |
| RPS6KC1ribosomal protein S6 kinase C1 | Zawsze | W 1 chorobie |
| SCARB2scavenger receptor class B member 2 | Zawsze | W 2 chorobach |
| SCO2synthesis of cytochrome C oxidase 2 | Zawsze | W 1 chorobie |
| SDHDsuccinate dehydrogenase complex subunit D | Zawsze | W 1 chorobie |
| SEMA6Bsemaphorin 6B | Zawsze | W 1 chorobie |
| SGCEsarcoglycan epsilon | Zawsze | W 2 chorobach |
| SLC25A10solute carrier family 25 member 10 | Zawsze | W 1 chorobie |
| SLC25A12solute carrier family 25 member 12 | Zawsze | W 1 chorobie |
| SLC25A19solute carrier family 25 member 19 | Zawsze | W 1 chorobie |
| SLC2A1solute carrier family 2 member 1 | Zawsze | W 2 chorobach |
| SLC7A6OSsolute carrier family 7 member 6 opposite strand | Zawsze | W 1 chorobie |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Zawsze | W 2 chorobach |
| TRAPPC12trafficking protein particle complex subunit 12 | Zawsze | W 2 chorobach |
| TSEN54tRNA splicing endonuclease subunit 54 | Zawsze | W 2 chorobach |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Zawsze | W 1 chorobie |
| YEATS2YEATS domain containing 2 | Zawsze | W 2 chorobach |
| ADRA2Badrenoceptor alpha 2B | Bardzo często (80–99%) | W 1 chorobie |
| APPamyloid beta precursor protein | Bardzo często (80–99%) | W 2 chorobach |
| ARXaristaless related homeobox | Bardzo często (80–99%) | W 2 chorobach |
| ASAH1N-acylsphingosine amidohydrolase 1 | Bardzo często (80–99%) | W 3 chorobach |
| ATAD1ATPase family AAA domain containing 1 | Bardzo często (80–99%) | W 2 chorobach |
| CD4CD4 molecule | Bardzo często (80–99%) | W 1 chorobie |
| CDKL5cyclin dependent kinase like 5 | Bardzo często (80–99%) | W 3 chorobach |
| CNPY3canopy FGF signaling regulator 3 | Bardzo często (80–99%) | W 1 chorobie |
| CTNND2catenin delta 2 | Bardzo często (80–99%) | W 1 chorobie |
| DRD2dopamine receptor D2 | Bardzo często (80–99%) | W 1 chorobie |
| GLRA1glycine receptor alpha 1 | Bardzo często (80–99%) | W 2 chorobach |
| GPHNgephyrin | Bardzo często (80–99%) | W 2 chorobach |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Bardzo często (80–99%) | W 2 chorobach |
| GUF1GTP binding elongation factor GUF1 | Bardzo często (80–99%) | W 2 chorobach |
| IRF4interferon regulatory factor 4 | Bardzo często (80–99%) | W 1 chorobie |
| KCTD17potassium channel tetramerization domain containing 17 | Bardzo często (80–99%) | W 2 chorobach |
| MARCHF6membrane associated ring-CH-type finger 6 | Bardzo często (80–99%) | W 2 chorobach |
| NEU1neuraminidase 1 | Bardzo często (80–99%) | W 4 chorobach |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Bardzo często (80–99%) | W 2 chorobach |
| PHACTR1phosphatase and actin regulator 1 | Bardzo często (80–99%) | W 1 chorobie |
| PLCB1phospholipase C beta 1 | Bardzo często (80–99%) | W 1 chorobie |
| PRDM8PR/SET domain 8 | Bardzo często (80–99%) | W 2 chorobach |
| PRICKLE1prickle planar cell polarity protein 1 | Bardzo często (80–99%) | W 2 chorobach |
| PSEN1presenilin 1 | Bardzo często (80–99%) | W 2 chorobach |
| PSEN2presenilin 2 | Bardzo często (80–99%) | W 2 chorobach |
| RAPGEF2Rap guanine nucleotide exchange factor 2 | Bardzo często (80–99%) | W 1 chorobie |
| SAMD12sterile alpha motif domain containing 12 | Bardzo często (80–99%) | W 1 chorobie |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Bardzo często (80–99%) | W 3 chorobach |
| SIK1salt inducible kinase 1 | Bardzo często (80–99%) | W 2 chorobach |
| SLC6A5solute carrier family 6 member 5 | Bardzo często (80–99%) | W 2 chorobach |
| SORL1sortilin related receptor 1 | Bardzo często (80–99%) | W 1 chorobie |
| STARD7StAR related lipid transfer domain containing 7 | Bardzo często (80–99%) | W 1 chorobie |
| TBC1D24TBC1 domain family member 24 | Bardzo często (80–99%) | W 5 chorobach |
| TNRC6Atrinucleotide repeat containing adaptor 6A | Bardzo często (80–99%) | W 1 chorobie |
| TOMM40translocase of outer mitochondrial membrane 40 | Bardzo często (80–99%) | W 1 chorobie |
| TOR1Atorsin family 1 member A | Bardzo często (80–99%) | W 1 chorobie |
| TREM2triggering receptor expressed on myeloid cells 2 | Bardzo często (80–99%) | W 3 chorobach |
| WDR45WD repeat domain 45 | Bardzo często (80–99%) | W 1 chorobie |
| AP5Z1adaptor related protein complex 5 subunit zeta 1 | Często (30–79%) | W 1 chorobie |
| APOEapolipoprotein E | Często (30–79%) | W 2 chorobach |
| ATN1atrophin 1 | Często (30–79%) | W 2 chorobach |
| ATP13A2ATPase cation transporting 13A2 | Często (30–79%) | W 3 chorobach |
| BORCS8BLOC-1 related complex subunit 8 | Często (30–79%) | W 1 chorobie |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Często (30–79%) | W 2 chorobach |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Często (30–79%) | W 2 chorobach |
| CASRcalcium sensing receptor | Często (30–79%) | W 1 chorobie |
| CHD2chromodomain helicase DNA binding protein 2 | Często (30–79%) | W 1 chorobie |
| CIZ1CDKN1A interacting zinc finger protein 1 | Często (30–79%) | W 1 chorobie |
| CLN6CLN6 transmembrane ER protein | Często (30–79%) | W 1 chorobie |
| CLPBClpB family mitochondrial disaggregase | Często (30–79%) | W 2 chorobach |
| COQ5coenzyme Q5, methyltransferase | Często (30–79%) | W 1 chorobie |
| COX4I1cytochrome c oxidase subunit 4I1 | Często (30–79%) | W 1 chorobie |
| CPLX1complexin 1 | Często (30–79%) | W 1 chorobie |
| CRLS1cardiolipin synthase 1 | Często (30–79%) | W 1 chorobie |
| CUX2cut like homeobox 2 | Często (30–79%) | W 1 chorobie |
| DAB1DAB adaptor protein 1 | Często (30–79%) | W 1 chorobie |
| DDCdopa decarboxylase | Często (30–79%) | W 1 chorobie |
| DENND5ADENN domain containing 5A | Często (30–79%) | W 1 chorobie |
| DNM1dynamin 1 | Często (30–79%) | W 3 chorobach |
| DOCK7dedicator of cytokinesis 7 | Często (30–79%) | W 2 chorobach |
| DTYMKdeoxythymidylate kinase | Często (30–79%) | W 1 chorobie |
| EFHC1EF-hand domain containing 1 | Często (30–79%) | W 1 chorobie |
| FBXO28F-box protein 28 | Często (30–79%) | W 2 chorobach |
| FBXO7F-box protein 7 | Często (30–79%) | W 1 chorobie |
| FZR1fizzy and cell division cycle 20 related 1 | Często (30–79%) | W 2 chorobach |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Często (30–79%) | W 1 chorobie |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Często (30–79%) | W 1 chorobie |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Często (30–79%) | W 2 chorobach |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Często (30–79%) | W 2 chorobach |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Często (30–79%) | W 1 chorobie |
| GTPBP2GTP binding protein 2 | Często (30–79%) | W 1 chorobie |
| HEXBhexosaminidase subunit beta | Często (30–79%) | W 1 chorobie |
| HTThuntingtin | Często (30–79%) | W 2 chorobach |
| KCNN2potassium calcium-activated channel subfamily N member 2 | Często (30–79%) | W 2 chorobach |
| KCTD7potassium channel tetramerization domain containing 7 | Często (30–79%) | W 1 chorobie |
| KICS2KICSTOR subunit 2 | Często (30–79%) | W 1 chorobie |
| LMNB2lamin B2 | Często (30–79%) | W 1 chorobie |
| MAPK10mitogen-activated protein kinase 10 | Często (30–79%) | W 1 chorobie |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Często (30–79%) | W 1 chorobie |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Często (30–79%) | W 1 chorobie |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Często (30–79%) | W 1 chorobie |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Często (30–79%) | W 1 chorobie |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Często (30–79%) | W 1 chorobie |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Często (30–79%) | W 1 chorobie |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Często (30–79%) | W 1 chorobie |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Często (30–79%) | W 2 chorobach |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Często (30–79%) | W 2 chorobach |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Często (30–79%) | W 2 chorobach |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Często (30–79%) | W 1 chorobie |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Często (30–79%) | W 2 chorobach |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Często (30–79%) | W 2 chorobach |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Często (30–79%) | W 1 chorobie |
| MTPAPmitochondrial poly(A) polymerase | Często (30–79%) | W 1 chorobie |
| NAGAalpha-N-acetylgalactosaminidase | Często (30–79%) | W 2 chorobach |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Często (30–79%) | W 1 chorobie |
| PCDH19protocadherin 19 | Często (30–79%) | W 1 chorobie |
| PGM3phosphoglucomutase 3 | Często (30–79%) | W 2 chorobach |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Często (30–79%) | W 1 chorobie |
| PLPBPpyridoxal phosphate binding protein | Często (30–79%) | W 1 chorobie |
| PNPOpyridoxamine 5'-phosphate oxidase | Często (30–79%) | W 2 chorobach |
| POLGDNA polymerase gamma, catalytic subunit | Często (30–79%) | W 5 chorobach |
| PSAT1phosphoserine aminotransferase 1 | Często (30–79%) | W 2 chorobach |
| SC5Dsterol-C5-desaturase | Często (30–79%) | W 1 chorobie |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Często (30–79%) | W 4 chorobach |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Często (30–79%) | W 2 chorobach |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Często (30–79%) | W 2 chorobach |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Często (30–79%) | W 1 chorobie |
| SLC25A46solute carrier family 25 member 46 | Często (30–79%) | W 2 chorobach |
| SLC2A3solute carrier family 2 member 3 | Często (30–79%) | W 1 chorobie |
| SNCAsynuclein alpha | Często (30–79%) | W 2 chorobach |
| SOX10SRY-box transcription factor 10 | Często (30–79%) | W 1 chorobie |
| STAMBPSTAM binding protein | Często (30–79%) | W 1 chorobie |
| TAF1TATA-box binding protein associated factor 1 | Często (30–79%) | W 2 chorobach |
| THtyrosine hydroxylase | Często (30–79%) | W 2 chorobach |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Często (30–79%) | W 1 chorobie |
| TOE1target of EGR1, exonuclease | Często (30–79%) | W 2 chorobach |
| TSPOAP1TSPO associated protein 1 | Często (30–79%) | W 1 chorobie |
| TSPYL1TSPY like 1 | Często (30–79%) | W 1 chorobie |
| TWNKtwinkle mtDNA helicase | Często (30–79%) | W 2 chorobach |
| VPS13Dvacuolar protein sorting 13 homolog D | Często (30–79%) | W 2 chorobach |
| VPS53VPS53 subunit of GARP complex | Często (30–79%) | W 1 chorobie |
| YRDCyrdC N6-threonylcarbamoyltransferase domain containing | Często (30–79%) | W 1 chorobie |
| AARS1alanyl-tRNA synthetase 1 | Czasami (5–29%) | W 1 chorobie |
| ACTL6Bactin like 6B | Czasami (5–29%) | W 1 chorobie |
| ADARadenosine deaminase RNA specific | Czasami (5–29%) | W 1 chorobie |
| AFF3ALF transcription elongation factor 3 | Czasami (5–29%) | W 1 chorobie |
| AKT3AKT serine/threonine kinase 3 | Czasami (5–29%) | W 1 chorobie |
| ANO3anoctamin 3 | Czasami (5–29%) | W 1 chorobie |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Czasami (5–29%) | W 1 chorobie |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Czasami (5–29%) | W 1 chorobie |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Czasami (5–29%) | W 1 chorobie |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Czasami (5–29%) | W 1 chorobie |
| ATP6V1AATPase H+ transporting V1 subunit A | Czasami (5–29%) | W 1 chorobie |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Czasami (5–29%) | W 1 chorobie |
| BOLA3bolA family member 3 | Czasami (5–29%) | W 2 chorobach |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Czasami (5–29%) | W 2 chorobach |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Czasami (5–29%) | W 1 chorobie |
| CACNB4calcium voltage-gated channel auxiliary subunit beta 4 | Czasami (5–29%) | W 2 chorobach |
| CASKcalcium/calmodulin dependent serine protein kinase | Czasami (5–29%) | W 1 chorobie |
| CDK19cyclin dependent kinase 19 | Czasami (5–29%) | W 1 chorobie |
| CELF2CUGBP Elav-like family member 2 | Czasami (5–29%) | W 1 chorobie |
| CICcapicua transcriptional repressor | Czasami (5–29%) | W 1 chorobie |
| CLCN4Cl-/H+ antiporter 4 | Czasami (5–29%) | W 1 chorobie |
| CLTCclathrin heavy chain | Czasami (5–29%) | W 2 chorobach |
| COQ8Acoenzyme Q8A | Czasami (5–29%) | W 2 chorobach |
| COXFA4cytochrome c oxidase associated subunit FA4 | Czasami (5–29%) | W 1 chorobie |
| CRELD1CRELD disulfide isomerase 1 | Czasami (5–29%) | W 1 chorobie |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Czasami (5–29%) | W 1 chorobie |
| DALRD3DALR anticodon binding domain containing 3 | Czasami (5–29%) | W 1 chorobie |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Czasami (5–29%) | W 1 chorobie |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Czasami (5–29%) | W 1 chorobie |
| DMXL2Dmx like 2 | Czasami (5–29%) | W 1 chorobie |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Czasami (5–29%) | W 1 chorobie |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Czasami (5–29%) | W 1 chorobie |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Czasami (5–29%) | W 1 chorobie |
| EPM2AEPM2A glucan phosphatase, laforin | Czasami (5–29%) | W 2 chorobach |
| FGF12fibroblast growth factor 12 | Czasami (5–29%) | W 1 chorobie |
| FOXG1forkhead box G1 | Czasami (5–29%) | W 1 chorobie |
| FRMD5FERM domain containing 5 | Czasami (5–29%) | W 1 chorobie |
| FRRS1Lferric chelate reductase 1 like | Czasami (5–29%) | W 1 chorobie |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Czasami (5–29%) | W 1 chorobie |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Czasami (5–29%) | W 1 chorobie |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Czasami (5–29%) | W 1 chorobie |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Czasami (5–29%) | W 2 chorobach |
| GALCgalactosylceramidase | Czasami (5–29%) | W 1 chorobie |
| GLRX5glutaredoxin 5 | Czasami (5–29%) | W 1 chorobie |
| GLYCTKglycerate kinase | Czasami (5–29%) | W 2 chorobach |
| GNAO1G protein subunit alpha o1 | Czasami (5–29%) | W 1 chorobie |
| GNB1G protein subunit beta 1 | Czasami (5–29%) | W 1 chorobie |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Czasami (5–29%) | W 1 chorobie |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Czasami (5–29%) | W 1 chorobie |
| GRM7glutamate metabotropic receptor 7 | Czasami (5–29%) | W 1 chorobie |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Czasami (5–29%) | W 1 chorobie |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Czasami (5–29%) | W 2 chorobach |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Czasami (5–29%) | W 1 chorobie |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Czasami (5–29%) | W 1 chorobie |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Czasami (5–29%) | W 2 chorobach |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Czasami (5–29%) | W 1 chorobie |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Czasami (5–29%) | W 1 chorobie |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Czasami (5–29%) | W 2 chorobach |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Czasami (5–29%) | W 1 chorobie |
| KMT2Blysine methyltransferase 2B | Czasami (5–29%) | W 1 chorobie |
| LGI1leucine rich glioma inactivated 1 | Czasami (5–29%) | W 1 chorobie |
| LIG3DNA ligase 3 | Czasami (5–29%) | W 1 chorobie |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Czasami (5–29%) | W 2 chorobach |
| MRE11MRE11 double strand break repair nuclease | Czasami (5–29%) | W 1 chorobie |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Czasami (5–29%) | W 1 chorobie |
| MTORmechanistic target of rapamycin kinase | Czasami (5–29%) | W 1 chorobie |
| NARS1asparaginyl-tRNA synthetase 1 | Czasami (5–29%) | W 1 chorobie |
| NAXDNAD(P)HX dehydratase | Czasami (5–29%) | W 1 chorobie |
| NAXENAD(P)HX epimerase | Czasami (5–29%) | W 1 chorobie |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Czasami (5–29%) | W 1 chorobie |
| NECAP1NECAP endocytosis associated 1 | Czasami (5–29%) | W 1 chorobie |
| NEUROD2neuronal differentiation 2 | Czasami (5–29%) | W 1 chorobie |
| NGLY1N-glycanase 1 | Czasami (5–29%) | W 2 chorobach |
| NKX2-1NK2 homeobox 1 | Czasami (5–29%) | W 1 chorobie |
| NPTX1neuronal pentraxin 1 | Czasami (5–29%) | W 1 chorobie |
| NUP54nucleoporin 54 | Czasami (5–29%) | W 1 chorobie |
| NUP62nucleoporin 62 | Czasami (5–29%) | W 1 chorobie |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Czasami (5–29%) | W 1 chorobie |
| OCA2OCA2 melanosomal transmembrane protein | Czasami (5–29%) | W 1 chorobie |
| PACS2phosphofurin acidic cluster sorting protein 2 | Czasami (5–29%) | W 1 chorobie |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Czasami (5–29%) | W 1 chorobie |
| PET100PET100 cytochrome c oxidase chaperone | Czasami (5–29%) | W 1 chorobie |
| PGAP2post-GPI attachment to proteins 2 | Czasami (5–29%) | W 1 chorobie |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Czasami (5–29%) | W 1 chorobie |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Czasami (5–29%) | W 1 chorobie |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Czasami (5–29%) | W 1 chorobie |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Czasami (5–29%) | W 1 chorobie |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Czasami (5–29%) | W 1 chorobie |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Czasami (5–29%) | W 1 chorobie |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Czasami (5–29%) | W 1 chorobie |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Czasami (5–29%) | W 1 chorobie |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Czasami (5–29%) | W 1 chorobie |
| PLA2G6phospholipase A2 group VI | Czasami (5–29%) | W 1 chorobie |
| PNKPpolynucleotide kinase 3'-phosphatase | Czasami (5–29%) | W 1 chorobie |
| PODXLpodocalyxin like | Czasami (5–29%) | W 1 chorobie |
| POLR1CRNA polymerase I and III subunit C | Czasami (5–29%) | W 1 chorobie |
| PPFIA3PPFI scaffold protein A3 | Czasami (5–29%) | W 1 chorobie |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Czasami (5–29%) | W 1 chorobie |
| PRKCGprotein kinase C gamma | Czasami (5–29%) | W 1 chorobie |
| PTS6-pyruvoyltetrahydropterin synthase | Czasami (5–29%) | W 1 chorobie |
| PURApurine rich element binding protein A | Czasami (5–29%) | W 2 chorobach |
| RBMXRNA binding motif protein X-linked | Czasami (5–29%) | W 1 chorobie |
| RHOBTB2Rho related BTB domain containing 2 | Czasami (5–29%) | W 1 chorobie |
| RMND1required for meiotic nuclear division 1 homolog | Czasami (5–29%) | W 1 chorobie |
| SATB1SATB homeobox 1 | Czasami (5–29%) | W 1 chorobie |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Czasami (5–29%) | W 1 chorobie |
| SLC13A5solute carrier family 13 member 5 | Czasami (5–29%) | W 1 chorobie |
| SLC1A2solute carrier family 1 member 2 | Czasami (5–29%) | W 1 chorobie |
| SLC25A22solute carrier family 25 member 22 | Czasami (5–29%) | W 1 chorobie |
| SLC32A1solute carrier family 32 member 1 | Czasami (5–29%) | W 1 chorobie |
| SLC38A3solute carrier family 38 member 3 | Czasami (5–29%) | W 1 chorobie |
| SMSspermine synthase | Czasami (5–29%) | W 1 chorobie |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Czasami (5–29%) | W 1 chorobie |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Czasami (5–29%) | W 1 chorobie |
| SYNJ1synaptojanin 1 | Czasami (5–29%) | W 2 chorobach |
| SZT2SZT2 subunit of KICSTOR complex | Czasami (5–29%) | W 1 chorobie |
| TEFMtranscription elongation factor, mitochondrial | Czasami (5–29%) | W 1 chorobie |
| THAP1THAP domain containing 1 | Czasami (5–29%) | W 1 chorobie |
| THAP11THAP domain containing 11 | Czasami (5–29%) | W 1 chorobie |
| TRAK1trafficking kinesin protein 1 | Czasami (5–29%) | W 2 chorobach |
| TRIM8tripartite motif containing 8 | Czasami (5–29%) | W 1 chorobie |
| UBA5ubiquitin like modifier activating enzyme 5 | Czasami (5–29%) | W 1 chorobie |
| UBE3Aubiquitin protein ligase E3A | Czasami (5–29%) | W 1 chorobie |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Czasami (5–29%) | W 1 chorobie |
| UFSP2UFM1 specific peptidase 2 | Czasami (5–29%) | W 1 chorobie |
| VPS41VPS41 subunit of HOPS complex | Czasami (5–29%) | W 1 chorobie |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Czasami (5–29%) | W 1 chorobie |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Rzadko (1–4%) | W 1 chorobie |
| ALKALK receptor tyrosine kinase | Rzadko (1–4%) | W 1 chorobie |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Rzadko (1–4%) | W 1 chorobie |
| LIN28Blin-28 RNA binding posttranscriptional regulator B | Rzadko (1–4%) | W 1 chorobie |
| LMO1LIM domain only 1 | Rzadko (1–4%) | W 1 chorobie |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Rzadko (1–4%) | W 1 chorobie |
| PHOX2Bpaired like homeobox 2B | Rzadko (1–4%) | W 1 chorobie |
| ADSLadenylosuccinate lyase | Nie odnotowano | W 1 chorobie |
| ATMATM serine/threonine kinase | Nie odnotowano | W 1 chorobie |
| ATXN2ataxin 2 | Nie odnotowano | W 1 chorobie |
| CHMP2Bcharged multivesicular body protein 2B | Nie odnotowano | W 1 chorobie |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Nie odnotowano | W 1 chorobie |
| CTSFcathepsin F | Nie odnotowano | W 1 chorobie |
| DNAJC5DnaJ heat shock protein family (Hsp40) member C5 | Nie odnotowano | W 1 chorobie |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Nie odnotowano | W 1 chorobie |
| GAMTguanidinoacetate N-methyltransferase | Nie odnotowano | W 1 chorobie |
| GBA1glucosylceramidase beta 1 | Nie odnotowano | W 1 chorobie |
| GLDCglycine decarboxylase | Nie odnotowano | W 1 chorobie |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Nie odnotowano | W 1 chorobie |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Nie odnotowano | W 1 chorobie |
| KCND3potassium voltage-gated channel subfamily D member 3 | Nie odnotowano | W 1 chorobie |
| KIF1Bkinesin family member 1B | Nie odnotowano | W 1 chorobie |
| LIASlipoic acid synthetase | Nie odnotowano | W 1 chorobie |
| MECP2methyl-CpG binding protein 2 | Nie odnotowano | W 1 chorobie |
| MT-TImitochondrially encoded tRNA-Ile (AUU/C) | Nie odnotowano | W 1 chorobie |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Nie odnotowano | W 1 chorobie |
| MT-TPmitochondrially encoded tRNA-Pro (CCN) | Nie odnotowano | W 1 chorobie |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Nie odnotowano | W 1 chorobie |
| NFASCneurofascin | Nie odnotowano | W 1 chorobie |
| NOL3nucleolar protein 3 | Nie odnotowano | W 1 chorobie |
| NUP214nucleoporin 214 | Nie odnotowano | W 1 chorobie |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Nie odnotowano | W 1 chorobie |
| PPT1palmitoyl-protein thioesterase 1 | Nie odnotowano | W 1 chorobie |
| QDPRquinoid dihydropteridine reductase | Nie odnotowano | W 1 chorobie |
| RORBRAR related orphan receptor B | Nie odnotowano | W 1 chorobie |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Nie odnotowano | W 1 chorobie |
| SERPINI1serpin family I member 1 | Nie odnotowano | W 1 chorobie |
| ST3GAL5ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Nie odnotowano | W 1 chorobie |
| TBPTATA-box binding protein | Nie odnotowano | W 1 chorobie |
| TPP1tripeptidyl peptidase 1 | Nie odnotowano | W 1 chorobie |
| TYROBPtransmembrane immune signaling adaptor TYROBP | Nie odnotowano | W 1 chorobie |
| ZNHIT3zinc finger HIT-type containing 3 | Nie odnotowano | W 1 chorobie |
Jak często występuje wśród osób z jedną z chorób związanych z tym genem, najczęściej spośród wszystkich, według danych Human Phenotype Ontology. Te strony opisują cechy i badania, na których się opierają; nie są diagnozą, a w sprawie objawów należy zwrócić się do lekarza lub doradcy genetycznego.
Cechy podrzędne
Cechy nadrzędne
Skąd pochodzą te dane
- Human Phenotype Ontology, wydanie 2026-09-01: cecha, jej nazwy, definicja oraz geny z nią powiązane. Więcej informacji znajdą Państwo na stronie hpo.jax.org.
- Wydanie danych 2026.10.16-c6eea6bf.
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