Cecha
Involuntary muscle stiffness, contraction, or spasm
Nazwa kliniczna: Spasticity
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Podsumowanie
- Znana także jako
- Muscle spasticity, Muscular spasticity
Genom referencyjnyGRCh38hg38
Pozycje na stronach genów i wariantów zależą od tego wyboru, w tej przeglądarce.
Read the genes linked to Involuntary muscle stiffness, contraction, or spasm, and the rest of your genome, with one test.
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Zamawiam Genome Test710 genów powiązanych z Involuntary muscle stiffness, contraction, or spasm
Zmiany w tych genach powodują rzadkie choroby, w których występuje Involuntary muscle stiffness, contraction, or spasm. 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 |
|---|---|---|
| AARS1alanyl-tRNA synthetase 1 | Zawsze | W 4 chorobach |
| ABCB1ATP binding cassette subfamily B member 1 | Zawsze | W 1 chorobie |
| ADD3adducin 3 | Zawsze | W 1 chorobie |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Zawsze | W 5 chorobach |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Zawsze | W 2 chorobach |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Zawsze | W 2 chorobach |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Zawsze | W 3 chorobach |
| AMPD2adenosine monophosphate deaminase 2 | Zawsze | W 2 chorobach |
| ANK3ankyrin 3 | Zawsze | W 2 chorobach |
| ANKLE2ankyrin repeat and LEM domain containing 2 | Zawsze | W 1 chorobie |
| AP1G1adaptor related protein complex 1 subunit gamma 1 | Zawsze | W 2 chorobach |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Zawsze | W 2 chorobach |
| ARL6IP1ARL6 interacting reticulophagy regulator 1 | Zawsze | W 2 chorobach |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Zawsze | W 1 chorobie |
| ATAD3AATPase family AAA domain containing 3A | Zawsze | W 3 chorobach |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Zawsze | W 3 chorobach |
| C19orf12chromosome 19 open reading frame 12 | Zawsze | W 2 chorobach |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Zawsze | W 2 chorobach |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Zawsze | W 1 chorobie |
| CHP1calcineurin like EF-hand protein 1 | Zawsze | W 1 chorobie |
| COL4A2collagen type IV alpha 2 chain | Zawsze | W 1 chorobie |
| COPB2coat protein complex I subunit beta 2 | Zawsze | W 2 chorobach |
| COX8Acytochrome c oxidase subunit 8A | Zawsze | W 1 chorobie |
| CST3cystatin C | Zawsze | W 1 chorobie |
| DHCR2424-dehydrocholesterol reductase | Zawsze | W 2 chorobach |
| DSTdystonin | Zawsze | W 1 chorobie |
| EIF2B2eukaryotic translation initiation factor 2B subunit beta | Zawsze | W 1 chorobie |
| EIF2B4eukaryotic translation initiation factor 2B subunit delta | Zawsze | W 1 chorobie |
| EIF4A2eukaryotic translation initiation factor 4A2 | Zawsze | W 1 chorobie |
| ELOVL1ELOVL fatty acid elongase 1 | Zawsze | W 1 chorobie |
| ENTPD1ectonucleoside triphosphate diphosphohydrolase 1 | Zawsze | W 2 chorobach |
| ERLIN1ER lipid raft associated 1 | Zawsze | W 1 chorobie |
| ESAMendothelial cell adhesion molecule | Zawsze | W 1 chorobie |
| EXOC8exocyst complex component 8 | Zawsze | W 1 chorobie |
| FAR1fatty acyl-CoA reductase 1 | Zawsze | W 1 chorobie |
| FEM1Bfem-1 homolog B | Zawsze | W 1 chorobie |
| FZR1fizzy and cell division cycle 20 related 1 | Zawsze | W 2 chorobach |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Zawsze | W 2 chorobach |
| GPRC5BG protein-coupled receptor class C group 5 member B | Zawsze | W 2 chorobach |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Zawsze | W 4 chorobach |
Pokaż jeszcze 670 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| GTF3C3general transcription factor IIIC subunit 3 | Zawsze | W 1 chorobie |
| HIVEP2HIVEP zinc finger 2 | Zawsze | W 1 chorobie |
| IREB2iron responsive element binding protein 2 | Zawsze | W 1 chorobie |
| ISCA1iron-sulfur cluster assembly 1 | Zawsze | W 2 chorobach |
| ISCA2iron-sulfur cluster assembly 2 | Zawsze | W 1 chorobie |
| JAM3junctional adhesion molecule 3 | Zawsze | W 1 chorobie |
| KDM2Blysine demethylase 2B | Zawsze | W 1 chorobie |
| KIF1Akinesin family member 1A | Zawsze | W 2 chorobach |
| KLC4kinesin light chain 4 | Zawsze | W 1 chorobie |
| LGI1leucine rich glioma inactivated 1 | Zawsze | W 2 chorobach |
| LSM7LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated | Zawsze | W 1 chorobie |
| LYRM7LYR motif containing 7 | Zawsze | W 1 chorobie |
| MAGmyelin associated glycoprotein | Zawsze | W 2 chorobach |
| MARS1methionyl-tRNA synthetase 1 | Zawsze | W 1 chorobie |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Zawsze | W 2 chorobach |
| MAU2MAU2 sister chromatid cohesion factor | Zawsze | W 1 chorobie |
| MCEEmethylmalonyl-CoA epimerase | Zawsze | W 1 chorobie |
| MED17mediator complex subunit 17 | Zawsze | W 1 chorobie |
| MED23mediator complex subunit 23 | Zawsze | W 1 chorobie |
| MFFmitochondrial fission factor | Zawsze | W 2 chorobach |
| MTHFSmethenyltetrahydrofolate synthetase | Zawsze | W 1 chorobie |
| NADK2NAD kinase 2, mitochondrial | Zawsze | W 1 chorobie |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Zawsze | W 1 chorobie |
| NIT1nitrilase 1 | Zawsze | W 1 chorobie |
| NKX6-2NK6 homeobox 2 | Zawsze | W 1 chorobie |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Zawsze | W 1 chorobie |
| PCYT2phosphate cytidylyltransferase 2, ethanolamine | Zawsze | W 1 chorobie |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Zawsze | W 1 chorobie |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Zawsze | W 1 chorobie |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Zawsze | W 2 chorobach |
| PLCB1phospholipase C beta 1 | Zawsze | W 1 chorobie |
| PNPLA8patatin like domain 8, phospholipase A2 | Zawsze | W 1 chorobie |
| POLR1ARNA polymerase I subunit A | Zawsze | W 1 chorobie |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Zawsze | W 1 chorobie |
| PTPN23protein tyrosine phosphatase non-receptor type 23 | Zawsze | W 1 chorobie |
| PTRHD1peptidyl-tRNA hydrolase domain containing 1 | Zawsze | W 1 chorobie |
| RAD50RAD50 double strand break repair protein | Zawsze | W 1 chorobie |
| REEP2receptor accessory protein 2 | Zawsze | W 2 chorobach |
| RETREG1reticulophagy regulator 1 | Zawsze | W 1 chorobie |
| SCYL2SCY1 like pseudokinase 2 | Zawsze | W 1 chorobie |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Zawsze | W 1 chorobie |
| SLC1A4solute carrier family 1 member 4 | Zawsze | W 1 chorobie |
| SLC25A10solute carrier family 25 member 10 | Zawsze | W 1 chorobie |
| SLC25A12solute carrier family 25 member 12 | Zawsze | W 1 chorobie |
| SLC25A22solute carrier family 25 member 22 | Zawsze | W 2 chorobach |
| SNAPC4small nuclear RNA activating complex polypeptide 4 | Zawsze | W 1 chorobie |
| SPOUT1SPOUT domain containing methyltransferase 1 | Zawsze | W 1 chorobie |
| SPRsepiapterin reductase | Zawsze | W 1 chorobie |
| TAF4TATA-box binding protein associated factor 4 | Zawsze | W 1 chorobie |
| TBC1D23TBC1 domain family member 23 | Zawsze | W 1 chorobie |
| TBCBtubulin folding cofactor B | Zawsze | W 1 chorobie |
| TBCEtubulin folding cofactor E | Zawsze | W 1 chorobie |
| TCTN2tectonic family member 2 | Zawsze | W 1 chorobie |
| TPRKBTP53RK binding protein | Zawsze | W 1 chorobie |
| TREX1three prime repair exonuclease 1 | Zawsze | W 2 chorobach |
| TRIT1tRNA isopentenyltransferase 1 | Zawsze | W 1 chorobie |
| TRMT5tRNA methyltransferase 5 | Zawsze | W 1 chorobie |
| TSEN2tRNA splicing endonuclease subunit 2 | Zawsze | W 2 chorobach |
| TUBB4Atubulin beta 4A class IVa | Zawsze | W 1 chorobie |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Zawsze | W 1 chorobie |
| VPS53VPS53 subunit of GARP complex | Zawsze | W 1 chorobie |
| WWOXWW domain containing oxidoreductase | Zawsze | W 2 chorobach |
| YIF1BYip1 interacting factor homolog B, membrane trafficking protein | Zawsze | W 1 chorobie |
| ZBTB11zinc finger and BTB domain containing 11 | Zawsze | W 1 chorobie |
| ADARadenosine deaminase RNA specific | Bardzo często (80–99%) | W 2 chorobach |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Bardzo często (80–99%) | W 2 chorobach |
| ARXaristaless related homeobox | Bardzo często (80–99%) | W 5 chorobach |
| ATAD1ATPase family AAA domain containing 1 | Bardzo często (80–99%) | W 1 chorobie |
| ATP7AATPase copper transporting alpha | Bardzo często (80–99%) | W 1 chorobie |
| BCAS3BCAS3 microtubule associated cell migration factor | Bardzo często (80–99%) | W 1 chorobie |
| CCT5chaperonin containing TCP1 subunit 5 | Bardzo często (80–99%) | W 1 chorobie |
| CTNNB1catenin beta 1 | Bardzo często (80–99%) | W 2 chorobach |
| DEGS1delta 4-desaturase, sphingolipid 1 | Bardzo często (80–99%) | W 1 chorobie |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Bardzo często (80–99%) | W 4 chorobach |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Bardzo często (80–99%) | W 3 chorobach |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Bardzo często (80–99%) | W 2 chorobach |
| ERCC5ERCC excision repair 5, endonuclease | Bardzo często (80–99%) | W 3 chorobach |
| ERLIN2ER lipid raft associated 2 | Bardzo często (80–99%) | W 2 chorobach |
| EXOSC5exosome component 5 | Bardzo często (80–99%) | W 1 chorobie |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Bardzo często (80–99%) | W 2 chorobach |
| GALCgalactosylceramidase | Bardzo często (80–99%) | W 2 chorobach |
| GBA1glucosylceramidase beta 1 | Bardzo często (80–99%) | W 2 chorobach |
| GBA2glucosylceramidase beta 2 | Bardzo często (80–99%) | W 1 chorobie |
| GBE11,4-alpha-glucan branching enzyme 1 | Bardzo często (80–99%) | W 1 chorobie |
| GLRA1glycine receptor alpha 1 | Bardzo często (80–99%) | W 1 chorobie |
| GLRBglycine receptor beta | Bardzo często (80–99%) | W 1 chorobie |
| GPHNgephyrin | Bardzo często (80–99%) | W 1 chorobie |
| HPRT1hypoxanthine phosphoribosyltransferase 1 | Bardzo często (80–99%) | W 2 chorobach |
| IFIH1interferon induced with helicase C domain 1 | Bardzo często (80–99%) | W 1 chorobie |
| L1CAML1 cell adhesion molecule | Bardzo często (80–99%) | W 4 chorobach |
| LSM11LSM11, U7 small nuclear RNA associated | Bardzo często (80–99%) | W 1 chorobie |
| MED27mediator complex subunit 27 | Bardzo często (80–99%) | W 1 chorobie |
| NAGAalpha-N-acetylgalactosaminidase | Bardzo często (80–99%) | W 2 chorobach |
| NSD1nuclear receptor binding SET domain protein 1 | Bardzo często (80–99%) | W 1 chorobie |
| OCLNoccludin | Bardzo często (80–99%) | W 2 chorobach |
| PLP1proteolipid protein 1 | Bardzo często (80–99%) | W 2 chorobach |
| PSAPprosaposin | Bardzo często (80–99%) | W 4 chorobach |
| RAB18RAB18, member RAS oncogene family | Bardzo często (80–99%) | W 1 chorobie |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Bardzo często (80–99%) | W 1 chorobie |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Bardzo często (80–99%) | W 1 chorobie |
| RNASEH2Aribonuclease H2 subunit A | Bardzo często (80–99%) | W 2 chorobach |
| RNASEH2Bribonuclease H2 subunit B | Bardzo często (80–99%) | W 1 chorobie |
| RNASEH2Cribonuclease H2 subunit C | Bardzo często (80–99%) | W 2 chorobach |
| RNASET2ribonuclease T2 | Bardzo często (80–99%) | W 1 chorobie |
| RNU4ATACRNA, U4atac small nuclear | Bardzo często (80–99%) | W 1 chorobie |
| RNU7-1RNA, U7 small nuclear 1 | Bardzo często (80–99%) | W 2 chorobach |
| ROGDIrogdi atypical leucine zipper | Bardzo często (80–99%) | W 2 chorobach |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Bardzo często (80–99%) | W 2 chorobach |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Bardzo często (80–99%) | W 2 chorobach |
| SERAC1serine active site containing 1 | Bardzo często (80–99%) | W 1 chorobie |
| SLC13A5solute carrier family 13 member 5 | Bardzo często (80–99%) | W 3 chorobach |
| SLC2A1solute carrier family 2 member 1 | Bardzo często (80–99%) | W 3 chorobach |
| SLC6A5solute carrier family 6 member 5 | Bardzo często (80–99%) | W 1 chorobie |
| SOX10SRY-box transcription factor 10 | Bardzo często (80–99%) | W 2 chorobach |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Bardzo często (80–99%) | W 1 chorobie |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Bardzo często (80–99%) | W 1 chorobie |
| SVBPsmall vasohibin binding protein | Bardzo często (80–99%) | W 1 chorobie |
| TBC1D20TBC1 domain family member 20 | Bardzo często (80–99%) | W 1 chorobie |
| TBCDtubulin folding cofactor D | Bardzo często (80–99%) | W 1 chorobie |
| TFGtrafficking from ER to golgi regulator | Bardzo często (80–99%) | W 1 chorobie |
| TNRtenascin R | Bardzo często (80–99%) | W 1 chorobie |
| UBA5ubiquitin like modifier activating enzyme 5 | Bardzo często (80–99%) | W 2 chorobach |
| UBTFupstream binding transcription factor | Bardzo często (80–99%) | W 2 chorobach |
| VPS4Avacuolar protein sorting 4 homolog A | Bardzo często (80–99%) | W 1 chorobie |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Często (30–79%) | W 1 chorobie |
| ABCD1ATP binding cassette subfamily D member 1 | Często (30–79%) | W 1 chorobie |
| ACBD6acyl-CoA binding domain containing 6 | Często (30–79%) | W 1 chorobie |
| ACP5acid phosphatase 5, tartrate resistant | Często (30–79%) | W 2 chorobach |
| ADAT3adenosine deaminase tRNA specific 3 | Często (30–79%) | W 2 chorobach |
| ADGRG1adhesion G protein-coupled receptor G1 | Często (30–79%) | W 1 chorobie |
| AFG2AAAA ATPase AFG2A | Często (30–79%) | W 2 chorobach |
| AFG2BAAA ATPase AFG2B | Często (30–79%) | W 1 chorobie |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Często (30–79%) | W 2 chorobach |
| AMACRalpha-methylacyl-CoA racemase | Często (30–79%) | W 1 chorobie |
| ANGangiogenin | Często (30–79%) | W 2 chorobach |
| ANXA11annexin A11 | Często (30–79%) | W 1 chorobie |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Często (30–79%) | W 1 chorobie |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Często (30–79%) | W 2 chorobach |
| AQP4aquaporin 4 | Często (30–79%) | W 1 chorobie |
| ARF1ARF GTPase 1 | Często (30–79%) | W 1 chorobie |
| ARPC5actin related protein 2/3 complex subunit 5 | Często (30–79%) | W 1 chorobie |
| ATMATM serine/threonine kinase | Często (30–79%) | W 1 chorobie |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Często (30–79%) | W 1 chorobie |
| ATP6V1AATPase H+ transporting V1 subunit A | Często (30–79%) | W 2 chorobach |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Często (30–79%) | W 1 chorobie |
| ATXN2ataxin 2 | Często (30–79%) | W 2 chorobach |
| ATXN3ataxin 3 | Często (30–79%) | W 4 chorobach |
| ATXN8ataxin 8 | Często (30–79%) | W 2 chorobach |
| ATXN8OSATXN8 opposite strand lncRNA | Często (30–79%) | W 2 chorobach |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Często (30–79%) | W 1 chorobie |
| BOLA3bolA family member 3 | Często (30–79%) | W 2 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 |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Często (30–79%) | W 1 chorobie |
| C2orf69chromosome 2 open reading frame 69 | Często (30–79%) | W 1 chorobie |
| CACNA1Dcalcium voltage-gated channel subunit alpha1 D | Często (30–79%) | W 1 chorobie |
| CASKcalcium/calmodulin dependent serine protein kinase | Często (30–79%) | W 3 chorobach |
| CASP2caspase 2 | Często (30–79%) | W 1 chorobie |
| CCNFcyclin F | Często (30–79%) | W 1 chorobie |
| CDKL5cyclin dependent kinase like 5 | Często (30–79%) | W 2 chorobach |
| CDONcell adhesion associated, oncogene regulated | Często (30–79%) | W 4 chorobach |
| CFAP410cilia and flagella associated protein 410 | Często (30–79%) | W 1 chorobie |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Często (30–79%) | W 1 chorobie |
| CHMP2Bcharged multivesicular body protein 2B | Często (30–79%) | W 1 chorobie |
| CKAP2Lcytoskeleton associated protein 2L | Często (30–79%) | W 1 chorobie |
| CLCN3Cl-/H+ antiporter 3 | Często (30–79%) | W 1 chorobie |
| CLIP2CAP-Gly domain containing linker protein 2 | Często (30–79%) | W 1 chorobie |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Często (30–79%) | W 2 chorobach |
| CLPBClpB family mitochondrial disaggregase | Często (30–79%) | W 2 chorobach |
| COG3component of oligomeric golgi complex 3 | Często (30–79%) | W 1 chorobie |
| COPB1coat protein complex I subunit beta 1 | Często (30–79%) | W 1 chorobie |
| COQ4coenzyme Q4 | Często (30–79%) | W 1 chorobie |
| CPSF3cleavage and polyadenylation specific factor 3 | Często (30–79%) | W 1 chorobie |
| CRIPTOcripto, EGF-CFC family member | Często (30–79%) | W 4 chorobach |
| CSF1Rcolony stimulating factor 1 receptor | Często (30–79%) | W 2 chorobach |
| CTSDcathepsin D | Często (30–79%) | W 1 chorobie |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Często (30–79%) | W 2 chorobach |
| DAOD-amino acid oxidase | Często (30–79%) | W 1 chorobie |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Często (30–79%) | W 2 chorobach |
| DCTN1dynactin subunit 1 | Często (30–79%) | W 2 chorobach |
| DDX3XDEAD-box helicase 3 X-linked | Często (30–79%) | W 2 chorobach |
| DISP1dispatched RND transporter family member 1 | Często (30–79%) | W 4 chorobach |
| DLDdihydrolipoamide dehydrogenase | Często (30–79%) | W 1 chorobie |
| DLL1delta like canonical Notch ligand 1 | Często (30–79%) | W 4 chorobach |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Często (30–79%) | W 1 chorobie |
| DRG1developmentally regulated GTP binding protein 1 | Często (30–79%) | W 1 chorobie |
| DTYMKdeoxythymidylate kinase | Często (30–79%) | W 1 chorobie |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Często (30–79%) | W 1 chorobie |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Często (30–79%) | W 2 chorobach |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Często (30–79%) | W 1 chorobie |
| EIF4Heukaryotic translation initiation factor 4H | Często (30–79%) | W 1 chorobie |
| ELNelastin | Często (30–79%) | W 1 chorobie |
| EPM2AEPM2A glucan phosphatase, laforin | Często (30–79%) | W 1 chorobie |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Często (30–79%) | W 1 chorobie |
| ERBB4erb-b2 receptor tyrosine kinase 4 | Często (30–79%) | W 1 chorobie |
| EXOSC9exosome component 9 | Często (30–79%) | W 2 chorobach |
| FAM177A1family with sequence similarity 177 member A1 | Często (30–79%) | W 1 chorobie |
| FBXO7F-box protein 7 | Często (30–79%) | W 1 chorobie |
| FDXRferredoxin reductase | Często (30–79%) | W 2 chorobach |
| FGF8fibroblast growth factor 8 | Często (30–79%) | W 4 chorobach |
| FGFR1fibroblast growth factor receptor 1 | Często (30–79%) | W 3 chorobach |
| FIG4FIG4 phosphoinositide 5-phosphatase | Często (30–79%) | W 2 chorobach |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Często (30–79%) | W 1 chorobie |
| FLVCR1FLVCR choline and heme transporter 1 | Często (30–79%) | W 1 chorobie |
| FOXG1forkhead box G1 | Często (30–79%) | W 2 chorobach |
| FOXH1forkhead box H1 | Często (30–79%) | W 4 chorobach |
| FOXP1forkhead box P1 | Często (30–79%) | W 1 chorobie |
| FRMD5FERM domain containing 5 | Często (30–79%) | W 1 chorobie |
| FRMPD4FERM and PDZ domain containing 4 | Często (30–79%) | W 1 chorobie |
| FRRS1Lferric chelate reductase 1 like | Często (30–79%) | W 1 chorobie |
| FTH1ferritin heavy chain 1 | Często (30–79%) | W 1 chorobie |
| FUCA1alpha-L-fucosidase 1 | Często (30–79%) | W 1 chorobie |
| FUSFUS RNA binding protein | Często (30–79%) | W 1 chorobie |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Często (30–79%) | W 2 chorobach |
| GAD1glutamate decarboxylase 1 | Często (30–79%) | W 1 chorobie |
| GANgigaxonin | Często (30–79%) | W 1 chorobie |
| GAS1growth arrest specific 1 | Często (30–79%) | W 4 chorobach |
| GDAP2ganglioside induced differentiation associated protein 2 | Często (30–79%) | W 1 chorobie |
| GEMIN4gem nuclear organelle associated protein 4 | Często (30–79%) | W 1 chorobie |
| GFAPglial fibrillary acidic protein | Często (30–79%) | W 3 chorobach |
| GJA1gap junction protein alpha 1 | Często (30–79%) | W 2 chorobach |
| GLB1galactosidase beta 1 | Często (30–79%) | W 1 chorobie |
| GLE1GLE1 RNA export mediator | Często (30–79%) | W 1 chorobie |
| GLI2GLI family zinc finger 2 | Często (30–79%) | W 4 chorobach |
| GLT8D1glycosyltransferase 8 domain containing 1 | Często (30–79%) | W 1 chorobie |
| GLYCTKglycerate kinase | Często (30–79%) | W 2 chorobach |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Często (30–79%) | W 2 chorobach |
| GPT2glutamic--pyruvic transaminase 2 | Często (30–79%) | W 1 chorobie |
| GRIA4glutamate ionotropic receptor AMPA type subunit 4 | Często (30–79%) | W 1 chorobie |
| GTF2Igeneral transcription factor IIi | Często (30–79%) | W 1 chorobie |
| GTF2IRD1GTF2I repeat domain containing 1 | Często (30–79%) | W 1 chorobie |
| GTF2IRD2GTF2I repeat domain containing 2 | Często (30–79%) | W 1 chorobie |
| GTPBP2GTP binding protein 2 | Często (30–79%) | W 1 chorobie |
| GUF1GTP binding elongation factor GUF1 | Często (30–79%) | W 1 chorobie |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Często (30–79%) | W 1 chorobie |
| HEPACAMhepatic and glial cell adhesion molecule | Często (30–79%) | W 2 chorobach |
| HEXBhexosaminidase subunit beta | Często (30–79%) | W 3 chorobach |
| HID1HID1 domain containing | Często (30–79%) | W 1 chorobie |
| HIKESHIheat shock protein nuclear import factor hikeshi | Często (30–79%) | W 1 chorobie |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Często (30–79%) | W 1 chorobie |
| HTRA1HtrA serine peptidase 1 | Często (30–79%) | W 2 chorobach |
| IARS1isoleucyl-tRNA synthetase 1 | Często (30–79%) | W 2 chorobach |
| IBA57iron-sulfur cluster assembly factor IBA57 | Często (30–79%) | W 1 chorobie |
| KATNB1katanin regulatory subunit B1 | Często (30–79%) | W 1 chorobie |
| KDM5Clysine demethylase 5C | Często (30–79%) | W 2 chorobach |
| KIF1Ckinesin family member 1C | Często (30–79%) | W 2 chorobach |
| KRASKRas proto-oncogene, GTPase | Często (30–79%) | W 1 chorobie |
| LAGE3L antigen family member 3 | Często (30–79%) | W 1 chorobie |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Często (30–79%) | W 1 chorobie |
| LIMK1LIM domain kinase 1 | Często (30–79%) | W 1 chorobie |
| LINGO1leucine rich repeat and Ig domain containing 1 | Często (30–79%) | W 1 chorobie |
| LMBRD2LMBR1 domain containing 2 | Często (30–79%) | W 1 chorobie |
| LMNB1lamin B1 | Często (30–79%) | W 1 chorobie |
| LRP12LDL receptor related protein 12 | Często (30–79%) | W 1 chorobie |
| LRPPRCleucine rich pentatricopeptide repeat containing | Często (30–79%) | W 2 chorobach |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Często (30–79%) | W 1 chorobie |
| MACF1microtubule actin crosslinking factor 1 | Często (30–79%) | W 2 chorobach |
| MATR3matrin 3 | Często (30–79%) | W 1 chorobie |
| MECP2methyl-CpG binding protein 2 | Często (30–79%) | W 3 chorobach |
| MED12mediator complex subunit 12 | Często (30–79%) | W 1 chorobie |
| METTL27methyltransferase like 27 | Często (30–79%) | W 1 chorobie |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Często (30–79%) | W 1 chorobie |
| MLC1modulator of VRAC current 1 | Często (30–79%) | W 2 chorobach |
| MRPS34mitochondrial ribosomal protein S34 | Często (30–79%) | W 1 chorobie |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Często (30–79%) | W 2 chorobach |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Często (30–79%) | W 1 chorobie |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Często (30–79%) | W 1 chorobie |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | 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-TKmitochondrially encoded tRNA-Lys (AAA/G) | Często (30–79%) | W 2 chorobach |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Często (30–79%) | W 2 chorobach |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Często (30–79%) | W 1 chorobie |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Często (30–79%) | W 1 chorobie |
| MTR5-methyltetrahydrofolate-homocysteine methyltransferase | Często (30–79%) | W 1 chorobie |
| MTRFRmitochondrial translation release factor in rescue | Często (30–79%) | W 1 chorobie |
| NCF1neutrophil cytosolic factor 1 | Często (30–79%) | W 1 chorobie |
| NDUFA2NADH:ubiquinone oxidoreductase subunit A2 | Często (30–79%) | W 1 chorobie |
| NDUFC2NADH:ubiquinone oxidoreductase subunit C2 | Często (30–79%) | W 1 chorobie |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Często (30–79%) | W 1 chorobie |
| NEFHneurofilament heavy chain | Często (30–79%) | W 2 chorobach |
| NEK1NIMA related kinase 1 | Często (30–79%) | W 2 chorobach |
| NHLRC1NHL repeat containing E3 ubiquitin protein ligase 1 | Często (30–79%) | W 1 chorobie |
| NODALnodal growth differentiation factor | Często (30–79%) | W 4 chorobach |
| NOTCH3notch receptor 3 | Często (30–79%) | W 2 chorobach |
| NOVA2NOVA alternative splicing regulator 2 | Często (30–79%) | W 1 chorobie |
| NTNG1netrin G1 | Często (30–79%) | W 1 chorobie |
| NTNG2netrin G2 | Często (30–79%) | W 1 chorobie |
| NUP54nucleoporin 54 | Często (30–79%) | W 1 chorobie |
| NUP62nucleoporin 62 | Często (30–79%) | W 2 chorobach |
| OPTNoptineurin | Często (30–79%) | W 1 chorobie |
| PANK2pantothenate kinase 2 | Często (30–79%) | W 3 chorobach |
| PEX1peroxisomal biogenesis factor 1 | Często (30–79%) | W 1 chorobie |
| PEX10peroxisomal biogenesis factor 10 | Często (30–79%) | W 1 chorobie |
| PEX11Bperoxisomal biogenesis factor 11 beta | Często (30–79%) | W 1 chorobie |
| PEX12peroxisomal biogenesis factor 12 | Często (30–79%) | W 1 chorobie |
| PEX13peroxisomal biogenesis factor 13 | Często (30–79%) | W 1 chorobie |
| PEX14peroxisomal biogenesis factor 14 | Często (30–79%) | W 1 chorobie |
| PEX16peroxisomal biogenesis factor 16 | Często (30–79%) | W 2 chorobach |
| PEX19peroxisomal biogenesis factor 19 | Często (30–79%) | W 1 chorobie |
| PEX2peroxisomal biogenesis factor 2 | Często (30–79%) | W 1 chorobie |
| PEX26peroxisomal biogenesis factor 26 | Często (30–79%) | W 1 chorobie |
| PEX3peroxisomal biogenesis factor 3 | Często (30–79%) | W 1 chorobie |
| PEX5peroxisomal biogenesis factor 5 | Często (30–79%) | W 1 chorobie |
| PEX6peroxisomal biogenesis factor 6 | Często (30–79%) | W 1 chorobie |
| PFN1profilin 1 | Często (30–79%) | W 2 chorobach |
| PHGDHphosphoglycerate dehydrogenase | Często (30–79%) | W 1 chorobie |
| PI4KAphosphatidylinositol 4-kinase alpha | Często (30–79%) | W 1 chorobie |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Często (30–79%) | W 1 chorobie |
| PLA2G6phospholipase A2 group VI | Często (30–79%) | W 4 chorobach |
| PLCH1phospholipase C eta 1 | Często (30–79%) | W 1 chorobie |
| PNPLA6patatin like domain 6, lysophospholipase | Często (30–79%) | W 1 chorobie |
| POLGDNA polymerase gamma, catalytic subunit | Często (30–79%) | W 1 chorobie |
| POLR1CRNA polymerase I and III subunit C | Często (30–79%) | W 1 chorobie |
| POLR3ARNA polymerase III subunit A | Często (30–79%) | W 3 chorobach |
| POLR3BRNA polymerase III subunit B | Często (30–79%) | W 3 chorobach |
| PQBP1polyglutamine binding protein 1 | Często (30–79%) | W 3 chorobach |
| PRPHperipherin | Często (30–79%) | W 2 chorobach |
| PTCH1patched 1 | Często (30–79%) | W 4 chorobach |
| PYCR2pyrroline-5-carboxylate reductase 2 | Często (30–79%) | W 2 chorobach |
| RAB11BRAB11B, member RAS oncogene family | Często (30–79%) | W 1 chorobie |
| RALGAPA1Ral GTPase activating protein catalytic subunit alpha 1 | Często (30–79%) | W 1 chorobie |
| RANBP2RAN binding protein 2 | Często (30–79%) | W 1 chorobie |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Często (30–79%) | W 1 chorobie |
| RBMXRNA binding motif protein X-linked | Często (30–79%) | W 2 chorobach |
| RFC2replication factor C subunit 2 | Często (30–79%) | W 1 chorobie |
| RNF13ring finger protein 13 | Często (30–79%) | W 1 chorobie |
| RRP12ribosomal RNA processing 12 homolog | Często (30–79%) | W 1 chorobie |
| RUSC2RUN and SH3 domain containing 2 | Często (30–79%) | W 1 chorobie |
| SACSsacsin molecular chaperone | Często (30–79%) | W 2 chorobach |
| SCYL1SCY1 like pseudokinase 1 | Często (30–79%) | W 2 chorobach |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Często (30–79%) | W 2 chorobach |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Często (30–79%) | W 1 chorobie |
| SDHDsuccinate dehydrogenase complex subunit D | Często (30–79%) | W 1 chorobie |
| SHHsonic hedgehog signaling molecule | Często (30–79%) | W 4 chorobach |
| SIL1SIL1 nucleotide exchange factor | Często (30–79%) | W 2 chorobach |
| SIX3SIX homeobox 3 | Często (30–79%) | W 4 chorobach |
| SLC12A6solute carrier family 12 member 6 | Często (30–79%) | W 1 chorobie |
| SLC16A2solute carrier family 16 member 2 | Często (30–79%) | W 1 chorobie |
| SLC39A14solute carrier family 39 member 14 | Często (30–79%) | W 2 chorobach |
| SLC5A6solute carrier family 5 member 6 | Często (30–79%) | W 1 chorobie |
| SMC1Astructural maintenance of chromosomes 1A | Często (30–79%) | W 2 chorobach |
| SNCAsynuclein alpha | Często (30–79%) | W 2 chorobach |
| SOD1superoxide dismutase 1 | Często (30–79%) | W 2 chorobach |
| SPARTspartin | Często (30–79%) | W 1 chorobie |
| SPASTspastin | Często (30–79%) | W 1 chorobie |
| SPG21SPG21 abhydrolase domain containing, maspardin | Często (30–79%) | W 1 chorobie |
| SQSTM1sequestosome 1 | Często (30–79%) | W 1 chorobie |
| SRPX2sushi repeat containing protein X-linked 2 | Często (30–79%) | W 1 chorobie |
| STAG2STAG2 cohesin complex component | Często (30–79%) | W 2 chorobach |
| STILSTIL centriolar assembly protein | Często (30–79%) | W 4 chorobach |
| STN1STN1 subunit of CST complex | Często (30–79%) | W 1 chorobie |
| STX1Asyntaxin 1A | Często (30–79%) | W 1 chorobie |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Często (30–79%) | W 2 chorobach |
| TAF1TATA-box binding protein associated factor 1 | Często (30–79%) | W 1 chorobie |
| TAF15TATA-box binding protein associated factor 15 | Często (30–79%) | W 1 chorobie |
| TAF2TATA-box binding protein associated factor 2 | Często (30–79%) | W 2 chorobach |
| TARDBPTAR DNA binding protein | Często (30–79%) | W 2 chorobach |
| TBK1TANK binding kinase 1 | Często (30–79%) | W 1 chorobie |
| TBL2transducin beta like 2 | Często (30–79%) | W 1 chorobie |
| TBPTATA-box binding protein | Często (30–79%) | W 1 chorobie |
| TELO2telomere maintenance 2 | Często (30–79%) | W 2 chorobach |
| TGFB1transforming growth factor beta 1 | Często (30–79%) | W 1 chorobie |
| TGIF1TGFB induced factor homeobox 1 | Często (30–79%) | W 4 chorobach |
| TMEM270transmembrane protein 270 | Często (30–79%) | W 1 chorobie |
| TOE1target of EGR1, exonuclease | Często (30–79%) | W 2 chorobach |
| TPK1thiamin pyrophosphokinase 1 | Często (30–79%) | W 1 chorobie |
| TRAPPC12trafficking protein particle complex subunit 12 | Często (30–79%) | W 1 chorobie |
| TREM2triggering receptor expressed on myeloid cells 2 | Często (30–79%) | W 3 chorobach |
| TUBA1Atubulin alpha 1a | Często (30–79%) | W 1 chorobie |
| TUBA4Atubulin alpha 4a | Często (30–79%) | W 1 chorobie |
| TUBB3tubulin beta 3 class III | Często (30–79%) | W 2 chorobach |
| TYROBPtransmembrane immune signaling adaptor TYROBP | Często (30–79%) | W 2 chorobach |
| UBQLN2ubiquilin 2 | Często (30–79%) | W 1 chorobie |
| UGDHUDP-glucose 6-dehydrogenase | Często (30–79%) | W 1 chorobie |
| UGP2UDP-glucose pyrophosphorylase 2 | Często (30–79%) | W 1 chorobie |
| UNC13Aunc-13 homolog A | Często (30–79%) | W 1 chorobie |
| VAPBVAMP associated protein B and C | Często (30–79%) | W 1 chorobie |
| VCPvalosin containing protein | Często (30–79%) | W 2 chorobach |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Często (30–79%) | W 2 chorobach |
| VPS13Cvacuolar protein sorting 13 homolog C | Często (30–79%) | W 2 chorobach |
| VPS13Dvacuolar protein sorting 13 homolog D | Często (30–79%) | W 1 chorobie |
| VPS37DVPS37D subunit of ESCRT-I | Często (30–79%) | W 1 chorobie |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Często (30–79%) | W 1 chorobie |
| WDR73WD repeat domain 73 | Często (30–79%) | W 2 chorobach |
| ZEB2zinc finger E-box binding homeobox 2 | Często (30–79%) | W 2 chorobach |
| ZFYVE26zinc finger FYVE-type containing 26 | Często (30–79%) | W 1 chorobie |
| ZIC2Zic family zinc finger 2 | Często (30–79%) | W 4 chorobach |
| ZNF592zinc finger protein 592 | Często (30–79%) | W 1 chorobie |
| ABHD12abhydrolase domain containing 12, lysophospholipase | Czasami (5–29%) | W 1 chorobie |
| ACAT1acetyl-CoA acetyltransferase 1 | Czasami (5–29%) | W 1 chorobie |
| ACTL6Bactin like 6B | Czasami (5–29%) | W 1 chorobie |
| ADARB1adenosine deaminase RNA specific B1 | Czasami (5–29%) | W 1 chorobie |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Czasami (5–29%) | W 1 chorobie |
| ARL6ARF like GTPase 6 | Czasami (5–29%) | W 1 chorobie |
| ARSAarylsulfatase A | Czasami (5–29%) | W 3 chorobach |
| ASAH1N-acylsphingosine amidohydrolase 1 | Czasami (5–29%) | W 1 chorobie |
| ASPAaspartoacylase | 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 |
| AUHAU RNA binding methylglutaconyl-CoA hydratase | Czasami (5–29%) | W 1 chorobie |
| AUTS2activator of transcription and developmental regulator AUTS2 | Czasami (5–29%) | W 1 chorobie |
| BBIP1BBSome interacting protein 1 | Czasami (5–29%) | W 1 chorobie |
| BBS1Bardet-Biedl syndrome 1 | Czasami (5–29%) | W 1 chorobie |
| BBS10Bardet-Biedl syndrome 10 | Czasami (5–29%) | W 1 chorobie |
| BBS12Bardet-Biedl syndrome 12 | Czasami (5–29%) | W 1 chorobie |
| BBS2Bardet-Biedl syndrome 2 | Czasami (5–29%) | W 1 chorobie |
| BBS4Bardet-Biedl syndrome 4 | Czasami (5–29%) | W 1 chorobie |
| BBS5Bardet-Biedl syndrome 5 | Czasami (5–29%) | W 1 chorobie |
| BBS7Bardet-Biedl syndrome 7 | Czasami (5–29%) | W 1 chorobie |
| BBS9Bardet-Biedl syndrome 9 | Czasami (5–29%) | W 1 chorobie |
| BCL11BBCL11 transcription factor B | Czasami (5–29%) | W 1 chorobie |
| BEAN1brain expressed associated with NEDD4 1 | Czasami (5–29%) | W 1 chorobie |
| BRPF1bromodomain and PHD finger containing 1 | Czasami (5–29%) | W 1 chorobie |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Czasami (5–29%) | W 1 chorobie |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Czasami (5–29%) | W 1 chorobie |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Czasami (5–29%) | W 1 chorobie |
| CARS1cysteinyl-tRNA synthetase 1 | 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 |
| CEP19centrosomal protein 19 | Czasami (5–29%) | W 1 chorobie |
| CEP290centrosomal protein 290 | Czasami (5–29%) | W 1 chorobie |
| CEP85Lcentrosomal protein 85L | Czasami (5–29%) | W 1 chorobie |
| CFAP418cilia and flagella associated protein 418 | Czasami (5–29%) | W 1 chorobie |
| CHMP1Acharged multivesicular body protein 1A | Czasami (5–29%) | W 1 chorobie |
| CITcitron rho-interacting serine/threonine kinase | Czasami (5–29%) | W 1 chorobie |
| CLTCclathrin heavy chain | Czasami (5–29%) | W 2 chorobach |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Czasami (5–29%) | W 1 chorobie |
| CNTNAP2contactin associated protein 2 | Czasami (5–29%) | W 1 chorobie |
| CRELD1CRELD disulfide isomerase 1 | Czasami (5–29%) | W 1 chorobie |
| CYB5Acytochrome b5 type A | Czasami (5–29%) | W 1 chorobie |
| CYB5R3cytochrome b5 reductase 3 | Czasami (5–29%) | W 1 chorobie |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Czasami (5–29%) | W 2 chorobach |
| DALRD3DALR anticodon binding domain containing 3 | Czasami (5–29%) | W 1 chorobie |
| DBR1debranching RNA lariats 1 | Czasami (5–29%) | W 1 chorobie |
| DDB2damage specific DNA binding protein 2 | 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 2 chorobach |
| DHPSdeoxyhypusine synthase | 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 2 chorobach |
| DNM1dynamin 1 | Czasami (5–29%) | W 1 chorobie |
| DNMT1DNA methyltransferase 1 | Czasami (5–29%) | W 2 chorobach |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Czasami (5–29%) | W 1 chorobie |
| EBF3EBF transcription factor 3 | Czasami (5–29%) | W 1 chorobie |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Czasami (5–29%) | W 1 chorobie |
| ELOVL4ELOVL fatty acid elongase 4 | Czasami (5–29%) | W 1 chorobie |
| EXOSC3exosome component 3 | Czasami (5–29%) | W 2 chorobach |
| EXOSC8exosome component 8 | Czasami (5–29%) | W 1 chorobie |
| FBXO28F-box protein 28 | Czasami (5–29%) | W 1 chorobie |
| FGF12fibroblast growth factor 12 | Czasami (5–29%) | W 1 chorobie |
| FXNfrataxin | Czasami (5–29%) | W 1 chorobie |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Czasami (5–29%) | W 2 chorobach |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Czasami (5–29%) | W 2 chorobach |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Czasami (5–29%) | W 1 chorobie |
| GCH1GTP cyclohydrolase 1 | Czasami (5–29%) | W 1 chorobie |
| GFM1G elongation factor mitochondrial 1 | Czasami (5–29%) | W 2 chorobach |
| GMPPAGDP-mannose pyrophosphorylase A | Czasami (5–29%) | W 1 chorobie |
| GNAO1G protein subunit alpha o1 | Czasami (5–29%) | W 2 chorobach |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Czasami (5–29%) | W 1 chorobie |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Czasami (5–29%) | W 1 chorobie |
| GRM1glutamate metabotropic receptor 1 | Czasami (5–29%) | W 1 chorobie |
| GRM7glutamate metabotropic receptor 7 | Czasami (5–29%) | W 1 chorobie |
| GTF2E2general transcription factor IIE subunit 2 | Czasami (5–29%) | W 1 chorobie |
| GTF2H5general transcription factor IIH subunit 5 | Czasami (5–29%) | W 1 chorobie |
| H3-3AH3.3 histone A | Czasami (5–29%) | W 1 chorobie |
| H4C5H4 clustered histone 5 | Czasami (5–29%) | W 1 chorobie |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Czasami (5–29%) | W 1 chorobie |
| HTRA2HtrA serine peptidase 2 | Czasami (5–29%) | W 1 chorobie |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Czasami (5–29%) | W 1 chorobie |
| IFT172intraflagellar transport 172 | Czasami (5–29%) | W 1 chorobie |
| IFT27intraflagellar transport 27 | Czasami (5–29%) | W 1 chorobie |
| IFT56intraflagellar transport 56 | Czasami (5–29%) | W 1 chorobie |
| IFT74intraflagellar transport 74 | Czasami (5–29%) | W 1 chorobie |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Czasami (5–29%) | W 2 chorobach |
| IRF2BPLinterferon regulatory factor 2 binding protein like | Czasami (5–29%) | W 1 chorobie |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | 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 1 chorobie |
| 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 1 chorobie |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Czasami (5–29%) | W 1 chorobie |
| KIF11kinesin family member 11 | Czasami (5–29%) | W 1 chorobie |
| KMT2Blysine methyltransferase 2B | Czasami (5–29%) | W 1 chorobie |
| LRRK2leucine rich repeat kinase 2 | Czasami (5–29%) | W 1 chorobie |
| LZTFL1leucine zipper transcription factor like 1 | Czasami (5–29%) | W 1 chorobie |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Czasami (5–29%) | W 1 chorobie |
| MCCC2methylcrotonyl-CoA carboxylase subunit 2 | Czasami (5–29%) | W 1 chorobie |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Czasami (5–29%) | W 1 chorobie |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Czasami (5–29%) | W 2 chorobach |
| MED25mediator complex subunit 25 | Czasami (5–29%) | W 2 chorobach |
| MFN2mitofusin 2 | Czasami (5–29%) | W 1 chorobie |
| MKKSMKKS centrosomal shuttling protein | Czasami (5–29%) | W 1 chorobie |
| MKS1MKS transition zone complex subunit 1 | Czasami (5–29%) | W 1 chorobie |
| MORC2MORC family CW-type zinc finger 2 | Czasami (5–29%) | W 1 chorobie |
| MPLKIPM-phase specific PLK1 interacting protein | Czasami (5–29%) | W 1 chorobie |
| MTO1mitochondrial tRNA translation optimization 1 | Czasami (5–29%) | W 1 chorobie |
| MYO5Amyosin VA | Czasami (5–29%) | W 1 chorobie |
| NACC1nucleus accumbens associated 1 | Czasami (5–29%) | W 2 chorobach |
| NAXENAD(P)HX epimerase | Czasami (5–29%) | W 1 chorobie |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Czasami (5–29%) | W 1 chorobie |
| NECAP1NECAP endocytosis associated 1 | Czasami (5–29%) | W 1 chorobie |
| NEU1neuraminidase 1 | Czasami (5–29%) | W 2 chorobach |
| NEUROD2neuronal differentiation 2 | Czasami (5–29%) | W 1 chorobie |
| NPHP1nephrocystin 1 | Czasami (5–29%) | W 1 chorobie |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Czasami (5–29%) | W 2 chorobach |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Czasami (5–29%) | W 1 chorobie |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Czasami (5–29%) | W 1 chorobie |
| ODC1ornithine decarboxylase 1 | Czasami (5–29%) | W 1 chorobie |
| OPA1OPA1 mitochondrial dynamin like GTPase | Czasami (5–29%) | W 2 chorobach |
| OTUD6BOTU deubiquitinase 6B | Czasami (5–29%) | W 1 chorobie |
| PACS2phosphofurin acidic cluster sorting protein 2 | Czasami (5–29%) | W 1 chorobie |
| PARK7Parkinsonism associated deglycase | Czasami (5–29%) | W 1 chorobie |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Czasami (5–29%) | W 2 chorobach |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Czasami (5–29%) | W 1 chorobie |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Czasami (5–29%) | W 1 chorobie |
| PINK1PTEN induced kinase 1 | Czasami (5–29%) | W 1 chorobie |
| PMPCApeptidase, mitochondrial processing subunit alpha | Czasami (5–29%) | W 2 chorobach |
| PNKPpolynucleotide kinase 3'-phosphatase | Czasami (5–29%) | W 1 chorobie |
| PNPpurine nucleoside phosphorylase | Czasami (5–29%) | W 1 chorobie |
| PODXLpodocalyxin like | Czasami (5–29%) | W 1 chorobie |
| POLA1DNA polymerase alpha 1, catalytic subunit | Czasami (5–29%) | W 1 chorobie |
| POU3F3POU class 3 homeobox 3 | Czasami (5–29%) | W 1 chorobie |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Czasami (5–29%) | W 2 chorobach |
| PRKNparkin RBR E3 ubiquitin protein ligase | Czasami (5–29%) | W 1 chorobie |
| RAB3ARAB3A, member RAS oncogene family | Czasami (5–29%) | W 1 chorobie |
| RHOBTB2Rho related BTB domain containing 2 | Czasami (5–29%) | W 1 chorobie |
| RNF113Aring finger protein 113A | Czasami (5–29%) | W 1 chorobie |
| RNU4-2RNA, U4 small nuclear 2 | Czasami (5–29%) | W 1 chorobie |
| RTTNrotatin | Czasami (5–29%) | W 2 chorobach |
| SATB1SATB homeobox 1 | Czasami (5–29%) | W 2 chorobach |
| SCAPERS-phase cyclin A associated protein in the ER | Czasami (5–29%) | W 1 chorobie |
| SCLT1sodium channel and clathrin linker 1 | Czasami (5–29%) | W 1 chorobie |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Czasami (5–29%) | W 1 chorobie |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Czasami (5–29%) | W 2 chorobach |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Czasami (5–29%) | W 1 chorobie |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Czasami (5–29%) | W 1 chorobie |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Czasami (5–29%) | W 1 chorobie |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Czasami (5–29%) | W 1 chorobie |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Czasami (5–29%) | W 1 chorobie |
| SETD5SET domain containing 5 | Czasami (5–29%) | W 1 chorobie |
| SIK1salt inducible kinase 1 | Czasami (5–29%) | W 1 chorobie |
| SLC1A2solute carrier family 1 member 2 | Czasami (5–29%) | W 2 chorobach |
| SLC25A46solute carrier family 25 member 46 | 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 |
| SLITRK2SLIT and NTRK like family member 2 | Czasami (5–29%) | W 1 chorobie |
| SMPD1sphingomyelin phosphodiesterase 1 | Czasami (5–29%) | W 2 chorobach |
| SNORD118small nucleolar RNA, C/D box 118 | Czasami (5–29%) | W 2 chorobach |
| SNX14sorting nexin 14 | Czasami (5–29%) | W 2 chorobach |
| SONSON DNA and RNA binding protein | Czasami (5–29%) | W 2 chorobach |
| SPTBN2spectrin beta, non-erythrocytic 2 | Czasami (5–29%) | W 2 chorobach |
| SRD5A3steroid 5 alpha-reductase 3 | Czasami (5–29%) | W 1 chorobie |
| STUB1STIP1 homology and U-box containing protein 1 | 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 |
| TARS1threonyl-tRNA synthetase 1 | Czasami (5–29%) | W 1 chorobie |
| THOC2THO complex subunit 2 | Czasami (5–29%) | W 1 chorobie |
| TIMM50translocase of inner mitochondrial membrane 50 | Czasami (5–29%) | W 2 chorobach |
| TP53RKTP53 regulating kinase | Czasami (5–29%) | W 1 chorobie |
| TRAK1trafficking kinesin protein 1 | Czasami (5–29%) | W 2 chorobach |
| TRIM32tripartite motif containing 32 | Czasami (5–29%) | W 1 chorobie |
| TRIM8tripartite motif containing 8 | Czasami (5–29%) | W 1 chorobie |
| TSEN15tRNA splicing endonuclease subunit 15 | Czasami (5–29%) | W 1 chorobie |
| TSEN34tRNA splicing endonuclease subunit 34 | Czasami (5–29%) | W 1 chorobie |
| TSEN54tRNA splicing endonuclease subunit 54 | Czasami (5–29%) | W 2 chorobach |
| TTC8tetratricopeptide repeat domain 8 | Czasami (5–29%) | W 1 chorobie |
| TUBGCP2tubulin gamma complex component 2 | Czasami (5–29%) | W 1 chorobie |
| UCHL1ubiquitin C-terminal hydrolase L1 | 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 |
| VRK1VRK serine/threonine kinase 1 | Czasami (5–29%) | W 1 chorobie |
| WASHC4WASH complex subunit 4 | Czasami (5–29%) | W 1 chorobie |
| WDPCPWD repeat containing planar cell polarity effector | Czasami (5–29%) | W 1 chorobie |
| WDR45BWD repeat domain 45B | Czasami (5–29%) | W 1 chorobie |
| XPAXPA, DNA damage recognition and repair factor | Czasami (5–29%) | W 2 chorobach |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Czasami (5–29%) | W 1 chorobie |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Czasami (5–29%) | W 1 chorobie |
| DNM1Ldynamin 1L | Rzadko (1–4%) | W 1 chorobie |
| FDX2ferredoxin 2 | Rzadko (1–4%) | W 1 chorobie |
| GRIA2glutamate ionotropic receptor AMPA type subunit 2 | Rzadko (1–4%) | W 1 chorobie |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Rzadko (1–4%) | W 2 chorobach |
| NEFLneurofilament light chain | Rzadko (1–4%) | W 1 chorobie |
| PPIBpeptidylprolyl isomerase B | Rzadko (1–4%) | W 1 chorobie |
| SETBP1SET binding protein 1 | Rzadko (1–4%) | W 1 chorobie |
| SPTBN1spectrin beta, non-erythrocytic 1 | Rzadko (1–4%) | W 1 chorobie |
| STXBP1syntaxin binding protein 1 | Rzadko (1–4%) | W 1 chorobie |
| ABCC8ATP binding cassette subfamily C member 8 | Nie odnotowano | W 1 chorobie |
| ADAM22ADAM metallopeptidase domain 22 | Nie odnotowano | W 1 chorobie |
| ADSLadenylosuccinate lyase | Nie odnotowano | W 1 chorobie |
| AGAaspartylglucosaminidase | Nie odnotowano | W 1 chorobie |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Nie odnotowano | W 1 chorobie |
| ATP13A2ATPase cation transporting 13A2 | Nie odnotowano | W 1 chorobie |
| ATRXATRX chromatin remodeler | Nie odnotowano | W 1 chorobie |
| ATXN1ataxin 1 | Nie odnotowano | W 1 chorobie |
| ATXN7ataxin 7 | Nie odnotowano | W 1 chorobie |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Nie odnotowano | W 1 chorobie |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Nie odnotowano | W 1 chorobie |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Nie odnotowano | W 1 chorobie |
| CNTNAP1contactin associated protein 1 | Nie odnotowano | W 1 chorobie |
| COL4A1collagen type IV alpha 1 chain | Nie odnotowano | W 1 chorobie |
| CTC1CST telomere replication complex component 1 | Nie odnotowano | W 1 chorobie |
| DCXdoublecortin | Nie odnotowano | W 1 chorobie |
| DENND5ADENN domain containing 5A | Nie odnotowano | W 1 chorobie |
| DYNC1I2dynein cytoplasmic 1 intermediate chain 2 | Nie odnotowano | W 1 chorobie |
| ECHS1enoyl-CoA hydratase, short chain 1 | Nie odnotowano | W 1 chorobie |
| EIF2B1eukaryotic translation initiation factor 2B subunit alpha | Nie odnotowano | W 1 chorobie |
| EML1EMAP like 1 | Nie odnotowano | W 1 chorobie |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Nie odnotowano | W 1 chorobie |
| FTLferritin light chain | Nie odnotowano | W 1 chorobie |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Nie odnotowano | W 1 chorobie |
| GLRX5glutaredoxin 5 | Nie odnotowano | W 1 chorobie |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Nie odnotowano | W 2 chorobach |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Nie odnotowano | W 1 chorobie |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Nie odnotowano | W 1 chorobie |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Nie odnotowano | W 1 chorobie |
| HTThuntingtin | Nie odnotowano | W 1 chorobie |
| ITM2Bintegral membrane protein 2B | Nie odnotowano | W 2 chorobach |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Nie odnotowano | W 1 chorobie |
| MAN2B1mannosidase alpha class 2B member 1 | Nie odnotowano | W 1 chorobie |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Nie odnotowano | W 1 chorobie |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Nie odnotowano | W 1 chorobie |
| MT-TImitochondrially encoded tRNA-Ile (AUU/C) | Nie odnotowano | W 1 chorobie |
| MT-TPmitochondrially encoded tRNA-Pro (CCN) | Nie odnotowano | W 1 chorobie |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Nie odnotowano | W 1 chorobie |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Nie odnotowano | W 1 chorobie |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Nie odnotowano | W 1 chorobie |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Nie odnotowano | W 1 chorobie |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Nie odnotowano | W 1 chorobie |
| NPC1NPC intracellular cholesterol transporter 1 | Nie odnotowano | W 1 chorobie |
| NPC2NPC intracellular cholesterol transporter 2 | Nie odnotowano | W 1 chorobie |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Nie odnotowano | W 1 chorobie |
| NUP214nucleoporin 214 | Nie odnotowano | W 1 chorobie |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Nie odnotowano | W 1 chorobie |
| OPHN1oligophrenin 1 | Nie odnotowano | W 1 chorobie |
| OSGEPO-sialoglycoprotein endopeptidase | Nie odnotowano | W 1 chorobie |
| PCLOpiccolo presynaptic cytomatrix protein | Nie odnotowano | W 1 chorobie |
| PEX7peroxisomal biogenesis factor 7 | Nie odnotowano | W 1 chorobie |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Nie odnotowano | W 1 chorobie |
| PMPCBpeptidase, mitochondrial processing subunit beta | Nie odnotowano | W 1 chorobie |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Nie odnotowano | W 1 chorobie |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Nie odnotowano | W 1 chorobie |
| PPT1palmitoyl-protein thioesterase 1 | Nie odnotowano | W 1 chorobie |
| PRDM8PR/SET domain 8 | Nie odnotowano | W 1 chorobie |
| PRNPprion protein (Kanno blood group) | Nie odnotowano | W 1 chorobie |
| RAB27ARAB27A, member RAS oncogene family | Nie odnotowano | W 1 chorobie |
| RFT1RFT1 glycolipid translocator homolog | Nie odnotowano | W 1 chorobie |
| RLIMring finger protein, LIM domain interacting | Nie odnotowano | W 1 chorobie |
| RPIAribose 5-phosphate isomerase A | Nie odnotowano | W 1 chorobie |
| SLC12A2solute carrier family 12 member 2 | Nie odnotowano | W 1 chorobie |
| SLC17A5solute carrier family 17 member 5 | Nie odnotowano | W 1 chorobie |
| SLC25A15solute carrier family 25 member 15 | Nie odnotowano | W 1 chorobie |
| SLC6A8solute carrier family 6 member 8 | Nie odnotowano | W 1 chorobie |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Nie odnotowano | W 1 chorobie |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Nie odnotowano | W 1 chorobie |
| SUMF1sulfatase modifying factor 1 | Nie odnotowano | W 1 chorobie |
| TCF20transcription factor 20 | Nie odnotowano | W 1 chorobie |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Nie odnotowano | W 1 chorobie |
| TMEM67transmembrane protein 67 | Nie odnotowano | W 1 chorobie |
| TPI1triosephosphate isomerase 1 | Nie odnotowano | W 1 chorobie |
| TTRtransthyretin | Nie odnotowano | W 1 chorobie |
| TUFMTu translation elongation factor, mitochondrial | Nie odnotowano | W 1 chorobie |
| TXN2thioredoxin 2 | Nie odnotowano | W 1 chorobie |
| UFM1ubiquitin fold modifier 1 | Nie odnotowano | W 1 chorobie |
| UNC80unc-80 subunit of NALCN channel complex | Nie odnotowano | W 1 chorobie |
| ZC4H2zinc finger C4H2-type containing | Nie odnotowano | W 2 chorobach |
| ZNF335zinc finger protein 335 | 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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