Özellik
Involuntary muscle stiffness, contraction, or spasm
Klinik adı: Spasticity
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Özet
- Diğer adları
- Muscle spasticity, Muscular spasticity
Referans genomGRCh38hg38
Gen ve varyant sayfalarındaki konumlar, bu tarayıcıda yaptığınız bu seçimi izler.
Read the genes linked to Involuntary muscle stiffness, contraction, or spasm, and the rest of your genome, with one test.
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Genome Test'imi alInvoluntary muscle stiffness, contraction, or spasm ile ilişkili 710 gen
Bu genlerdeki değişiklikler, Involuntary muscle stiffness, contraction, or spasm özelliğinin görüldüğü nadir durumlara yol açar. Bu özelliğe sahip çoğu kişide bu durumlardan hiçbiri yoktur; ayrıca bu listedeki bir gen, kimsenin kendi genomu hakkında bir şey söylemez.
| Gen | Ne sıklıkla görüldüğü | Durumlar |
|---|---|---|
| AARS1alanyl-tRNA synthetase 1 | Her zaman | 4 durumda |
| ABCB1ATP binding cassette subfamily B member 1 | Her zaman | 1 durumda |
| ADD3adducin 3 | Her zaman | 1 durumda |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Her zaman | 5 durumda |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Her zaman | 2 durumda |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Her zaman | 2 durumda |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Her zaman | 3 durumda |
| AMPD2adenosine monophosphate deaminase 2 | Her zaman | 2 durumda |
| ANK3ankyrin 3 | Her zaman | 2 durumda |
| ANKLE2ankyrin repeat and LEM domain containing 2 | Her zaman | 1 durumda |
| AP1G1adaptor related protein complex 1 subunit gamma 1 | Her zaman | 2 durumda |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Her zaman | 2 durumda |
| ARL6IP1ARL6 interacting reticulophagy regulator 1 | Her zaman | 2 durumda |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Her zaman | 1 durumda |
| ATAD3AATPase family AAA domain containing 3A | Her zaman | 3 durumda |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Her zaman | 3 durumda |
| C19orf12chromosome 19 open reading frame 12 | Her zaman | 2 durumda |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Her zaman | 2 durumda |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Her zaman | 1 durumda |
| CHP1calcineurin like EF-hand protein 1 | Her zaman | 1 durumda |
| COL4A2collagen type IV alpha 2 chain | Her zaman | 1 durumda |
| COPB2coat protein complex I subunit beta 2 | Her zaman | 2 durumda |
| COX8Acytochrome c oxidase subunit 8A | Her zaman | 1 durumda |
| CST3cystatin C | Her zaman | 1 durumda |
| DHCR2424-dehydrocholesterol reductase | Her zaman | 2 durumda |
| DSTdystonin | Her zaman | 1 durumda |
| EIF2B2eukaryotic translation initiation factor 2B subunit beta | Her zaman | 1 durumda |
| EIF2B4eukaryotic translation initiation factor 2B subunit delta | Her zaman | 1 durumda |
| EIF4A2eukaryotic translation initiation factor 4A2 | Her zaman | 1 durumda |
| ELOVL1ELOVL fatty acid elongase 1 | Her zaman | 1 durumda |
| ENTPD1ectonucleoside triphosphate diphosphohydrolase 1 | Her zaman | 2 durumda |
| ERLIN1ER lipid raft associated 1 | Her zaman | 1 durumda |
| ESAMendothelial cell adhesion molecule | Her zaman | 1 durumda |
| EXOC8exocyst complex component 8 | Her zaman | 1 durumda |
| FAR1fatty acyl-CoA reductase 1 | Her zaman | 1 durumda |
| FEM1Bfem-1 homolog B | Her zaman | 1 durumda |
| FZR1fizzy and cell division cycle 20 related 1 | Her zaman | 2 durumda |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Her zaman | 2 durumda |
| GPRC5BG protein-coupled receptor class C group 5 member B | Her zaman | 2 durumda |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Her zaman | 4 durumda |
670 gen daha göster
| Gen | Ne sıklıkla görüldüğü | Durumlar |
|---|---|---|
| GTF3C3general transcription factor IIIC subunit 3 | Her zaman | 1 durumda |
| HIVEP2HIVEP zinc finger 2 | Her zaman | 1 durumda |
| IREB2iron responsive element binding protein 2 | Her zaman | 1 durumda |
| ISCA1iron-sulfur cluster assembly 1 | Her zaman | 2 durumda |
| ISCA2iron-sulfur cluster assembly 2 | Her zaman | 1 durumda |
| JAM3junctional adhesion molecule 3 | Her zaman | 1 durumda |
| KDM2Blysine demethylase 2B | Her zaman | 1 durumda |
| KIF1Akinesin family member 1A | Her zaman | 2 durumda |
| KLC4kinesin light chain 4 | Her zaman | 1 durumda |
| LGI1leucine rich glioma inactivated 1 | Her zaman | 2 durumda |
| LSM7LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated | Her zaman | 1 durumda |
| LYRM7LYR motif containing 7 | Her zaman | 1 durumda |
| MAGmyelin associated glycoprotein | Her zaman | 2 durumda |
| MARS1methionyl-tRNA synthetase 1 | Her zaman | 1 durumda |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Her zaman | 2 durumda |
| MAU2MAU2 sister chromatid cohesion factor | Her zaman | 1 durumda |
| MCEEmethylmalonyl-CoA epimerase | Her zaman | 1 durumda |
| MED17mediator complex subunit 17 | Her zaman | 1 durumda |
| MED23mediator complex subunit 23 | Her zaman | 1 durumda |
| MFFmitochondrial fission factor | Her zaman | 2 durumda |
| MTHFSmethenyltetrahydrofolate synthetase | Her zaman | 1 durumda |
| NADK2NAD kinase 2, mitochondrial | Her zaman | 1 durumda |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Her zaman | 1 durumda |
| NIT1nitrilase 1 | Her zaman | 1 durumda |
| NKX6-2NK6 homeobox 2 | Her zaman | 1 durumda |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Her zaman | 1 durumda |
| PCYT2phosphate cytidylyltransferase 2, ethanolamine | Her zaman | 1 durumda |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Her zaman | 1 durumda |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Her zaman | 1 durumda |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Her zaman | 2 durumda |
| PLCB1phospholipase C beta 1 | Her zaman | 1 durumda |
| PNPLA8patatin like domain 8, phospholipase A2 | Her zaman | 1 durumda |
| POLR1ARNA polymerase I subunit A | Her zaman | 1 durumda |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Her zaman | 1 durumda |
| PTPN23protein tyrosine phosphatase non-receptor type 23 | Her zaman | 1 durumda |
| PTRHD1peptidyl-tRNA hydrolase domain containing 1 | Her zaman | 1 durumda |
| RAD50RAD50 double strand break repair protein | Her zaman | 1 durumda |
| REEP2receptor accessory protein 2 | Her zaman | 2 durumda |
| RETREG1reticulophagy regulator 1 | Her zaman | 1 durumda |
| SCYL2SCY1 like pseudokinase 2 | Her zaman | 1 durumda |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Her zaman | 1 durumda |
| SLC1A4solute carrier family 1 member 4 | Her zaman | 1 durumda |
| SLC25A10solute carrier family 25 member 10 | Her zaman | 1 durumda |
| SLC25A12solute carrier family 25 member 12 | Her zaman | 1 durumda |
| SLC25A22solute carrier family 25 member 22 | Her zaman | 2 durumda |
| SNAPC4small nuclear RNA activating complex polypeptide 4 | Her zaman | 1 durumda |
| SPOUT1SPOUT domain containing methyltransferase 1 | Her zaman | 1 durumda |
| SPRsepiapterin reductase | Her zaman | 1 durumda |
| TAF4TATA-box binding protein associated factor 4 | Her zaman | 1 durumda |
| TBC1D23TBC1 domain family member 23 | Her zaman | 1 durumda |
| TBCBtubulin folding cofactor B | Her zaman | 1 durumda |
| TBCEtubulin folding cofactor E | Her zaman | 1 durumda |
| TCTN2tectonic family member 2 | Her zaman | 1 durumda |
| TPRKBTP53RK binding protein | Her zaman | 1 durumda |
| TREX1three prime repair exonuclease 1 | Her zaman | 2 durumda |
| TRIT1tRNA isopentenyltransferase 1 | Her zaman | 1 durumda |
| TRMT5tRNA methyltransferase 5 | Her zaman | 1 durumda |
| TSEN2tRNA splicing endonuclease subunit 2 | Her zaman | 2 durumda |
| TUBB4Atubulin beta 4A class IVa | Her zaman | 1 durumda |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Her zaman | 1 durumda |
| VPS53VPS53 subunit of GARP complex | Her zaman | 1 durumda |
| WWOXWW domain containing oxidoreductase | Her zaman | 2 durumda |
| YIF1BYip1 interacting factor homolog B, membrane trafficking protein | Her zaman | 1 durumda |
| ZBTB11zinc finger and BTB domain containing 11 | Her zaman | 1 durumda |
| ADARadenosine deaminase RNA specific | Çok sık (%80–99) | 2 durumda |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Çok sık (%80–99) | 2 durumda |
| ARXaristaless related homeobox | Çok sık (%80–99) | 5 durumda |
| ATAD1ATPase family AAA domain containing 1 | Çok sık (%80–99) | 1 durumda |
| ATP7AATPase copper transporting alpha | Çok sık (%80–99) | 1 durumda |
| BCAS3BCAS3 microtubule associated cell migration factor | Çok sık (%80–99) | 1 durumda |
| CCT5chaperonin containing TCP1 subunit 5 | Çok sık (%80–99) | 1 durumda |
| CTNNB1catenin beta 1 | Çok sık (%80–99) | 2 durumda |
| DEGS1delta 4-desaturase, sphingolipid 1 | Çok sık (%80–99) | 1 durumda |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Çok sık (%80–99) | 4 durumda |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Çok sık (%80–99) | 3 durumda |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Çok sık (%80–99) | 2 durumda |
| ERCC5ERCC excision repair 5, endonuclease | Çok sık (%80–99) | 3 durumda |
| ERLIN2ER lipid raft associated 2 | Çok sık (%80–99) | 2 durumda |
| EXOSC5exosome component 5 | Çok sık (%80–99) | 1 durumda |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Çok sık (%80–99) | 2 durumda |
| GALCgalactosylceramidase | Çok sık (%80–99) | 2 durumda |
| GBA1glucosylceramidase beta 1 | Çok sık (%80–99) | 2 durumda |
| GBA2glucosylceramidase beta 2 | Çok sık (%80–99) | 1 durumda |
| GBE11,4-alpha-glucan branching enzyme 1 | Çok sık (%80–99) | 1 durumda |
| GLRA1glycine receptor alpha 1 | Çok sık (%80–99) | 1 durumda |
| GLRBglycine receptor beta | Çok sık (%80–99) | 1 durumda |
| GPHNgephyrin | Çok sık (%80–99) | 1 durumda |
| HPRT1hypoxanthine phosphoribosyltransferase 1 | Çok sık (%80–99) | 2 durumda |
| IFIH1interferon induced with helicase C domain 1 | Çok sık (%80–99) | 1 durumda |
| L1CAML1 cell adhesion molecule | Çok sık (%80–99) | 4 durumda |
| LSM11LSM11, U7 small nuclear RNA associated | Çok sık (%80–99) | 1 durumda |
| MED27mediator complex subunit 27 | Çok sık (%80–99) | 1 durumda |
| NAGAalpha-N-acetylgalactosaminidase | Çok sık (%80–99) | 2 durumda |
| NSD1nuclear receptor binding SET domain protein 1 | Çok sık (%80–99) | 1 durumda |
| OCLNoccludin | Çok sık (%80–99) | 2 durumda |
| PLP1proteolipid protein 1 | Çok sık (%80–99) | 2 durumda |
| PSAPprosaposin | Çok sık (%80–99) | 4 durumda |
| RAB18RAB18, member RAS oncogene family | Çok sık (%80–99) | 1 durumda |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Çok sık (%80–99) | 1 durumda |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Çok sık (%80–99) | 1 durumda |
| RNASEH2Aribonuclease H2 subunit A | Çok sık (%80–99) | 2 durumda |
| RNASEH2Bribonuclease H2 subunit B | Çok sık (%80–99) | 1 durumda |
| RNASEH2Cribonuclease H2 subunit C | Çok sık (%80–99) | 2 durumda |
| RNASET2ribonuclease T2 | Çok sık (%80–99) | 1 durumda |
| RNU4ATACRNA, U4atac small nuclear | Çok sık (%80–99) | 1 durumda |
| RNU7-1RNA, U7 small nuclear 1 | Çok sık (%80–99) | 2 durumda |
| ROGDIrogdi atypical leucine zipper | Çok sık (%80–99) | 2 durumda |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Çok sık (%80–99) | 2 durumda |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Çok sık (%80–99) | 2 durumda |
| SERAC1serine active site containing 1 | Çok sık (%80–99) | 1 durumda |
| SLC13A5solute carrier family 13 member 5 | Çok sık (%80–99) | 3 durumda |
| SLC2A1solute carrier family 2 member 1 | Çok sık (%80–99) | 3 durumda |
| SLC6A5solute carrier family 6 member 5 | Çok sık (%80–99) | 1 durumda |
| SOX10SRY-box transcription factor 10 | Çok sık (%80–99) | 2 durumda |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Çok sık (%80–99) | 1 durumda |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Çok sık (%80–99) | 1 durumda |
| SVBPsmall vasohibin binding protein | Çok sık (%80–99) | 1 durumda |
| TBC1D20TBC1 domain family member 20 | Çok sık (%80–99) | 1 durumda |
| TBCDtubulin folding cofactor D | Çok sık (%80–99) | 1 durumda |
| TFGtrafficking from ER to golgi regulator | Çok sık (%80–99) | 1 durumda |
| TNRtenascin R | Çok sık (%80–99) | 1 durumda |
| UBA5ubiquitin like modifier activating enzyme 5 | Çok sık (%80–99) | 2 durumda |
| UBTFupstream binding transcription factor | Çok sık (%80–99) | 2 durumda |
| VPS4Avacuolar protein sorting 4 homolog A | Çok sık (%80–99) | 1 durumda |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Sık (%30–79) | 1 durumda |
| ABCD1ATP binding cassette subfamily D member 1 | Sık (%30–79) | 1 durumda |
| ACBD6acyl-CoA binding domain containing 6 | Sık (%30–79) | 1 durumda |
| ACP5acid phosphatase 5, tartrate resistant | Sık (%30–79) | 2 durumda |
| ADAT3adenosine deaminase tRNA specific 3 | Sık (%30–79) | 2 durumda |
| ADGRG1adhesion G protein-coupled receptor G1 | Sık (%30–79) | 1 durumda |
| AFG2AAAA ATPase AFG2A | Sık (%30–79) | 2 durumda |
| AFG2BAAA ATPase AFG2B | Sık (%30–79) | 1 durumda |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Sık (%30–79) | 2 durumda |
| AMACRalpha-methylacyl-CoA racemase | Sık (%30–79) | 1 durumda |
| ANGangiogenin | Sık (%30–79) | 2 durumda |
| ANXA11annexin A11 | Sık (%30–79) | 1 durumda |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Sık (%30–79) | 1 durumda |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Sık (%30–79) | 2 durumda |
| AQP4aquaporin 4 | Sık (%30–79) | 1 durumda |
| ARF1ARF GTPase 1 | Sık (%30–79) | 1 durumda |
| ARPC5actin related protein 2/3 complex subunit 5 | Sık (%30–79) | 1 durumda |
| ATMATM serine/threonine kinase | Sık (%30–79) | 1 durumda |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Sık (%30–79) | 1 durumda |
| ATP6V1AATPase H+ transporting V1 subunit A | Sık (%30–79) | 2 durumda |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Sık (%30–79) | 1 durumda |
| ATXN2ataxin 2 | Sık (%30–79) | 2 durumda |
| ATXN3ataxin 3 | Sık (%30–79) | 4 durumda |
| ATXN8ataxin 8 | Sık (%30–79) | 2 durumda |
| ATXN8OSATXN8 opposite strand lncRNA | Sık (%30–79) | 2 durumda |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Sık (%30–79) | 1 durumda |
| BOLA3bolA family member 3 | Sık (%30–79) | 2 durumda |
| BORCS8BLOC-1 related complex subunit 8 | Sık (%30–79) | 1 durumda |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Sık (%30–79) | 2 durumda |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Sık (%30–79) | 1 durumda |
| C2orf69chromosome 2 open reading frame 69 | Sık (%30–79) | 1 durumda |
| CACNA1Dcalcium voltage-gated channel subunit alpha1 D | Sık (%30–79) | 1 durumda |
| CASKcalcium/calmodulin dependent serine protein kinase | Sık (%30–79) | 3 durumda |
| CASP2caspase 2 | Sık (%30–79) | 1 durumda |
| CCNFcyclin F | Sık (%30–79) | 1 durumda |
| CDKL5cyclin dependent kinase like 5 | Sık (%30–79) | 2 durumda |
| CDONcell adhesion associated, oncogene regulated | Sık (%30–79) | 4 durumda |
| CFAP410cilia and flagella associated protein 410 | Sık (%30–79) | 1 durumda |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Sık (%30–79) | 1 durumda |
| CHMP2Bcharged multivesicular body protein 2B | Sık (%30–79) | 1 durumda |
| CKAP2Lcytoskeleton associated protein 2L | Sık (%30–79) | 1 durumda |
| CLCN3Cl-/H+ antiporter 3 | Sık (%30–79) | 1 durumda |
| CLIP2CAP-Gly domain containing linker protein 2 | Sık (%30–79) | 1 durumda |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Sık (%30–79) | 2 durumda |
| CLPBClpB family mitochondrial disaggregase | Sık (%30–79) | 2 durumda |
| COG3component of oligomeric golgi complex 3 | Sık (%30–79) | 1 durumda |
| COPB1coat protein complex I subunit beta 1 | Sık (%30–79) | 1 durumda |
| COQ4coenzyme Q4 | Sık (%30–79) | 1 durumda |
| CPSF3cleavage and polyadenylation specific factor 3 | Sık (%30–79) | 1 durumda |
| CRIPTOcripto, EGF-CFC family member | Sık (%30–79) | 4 durumda |
| CSF1Rcolony stimulating factor 1 receptor | Sık (%30–79) | 2 durumda |
| CTSDcathepsin D | Sık (%30–79) | 1 durumda |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Sık (%30–79) | 2 durumda |
| DAOD-amino acid oxidase | Sık (%30–79) | 1 durumda |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Sık (%30–79) | 2 durumda |
| DCTN1dynactin subunit 1 | Sık (%30–79) | 2 durumda |
| DDX3XDEAD-box helicase 3 X-linked | Sık (%30–79) | 2 durumda |
| DISP1dispatched RND transporter family member 1 | Sık (%30–79) | 4 durumda |
| DLDdihydrolipoamide dehydrogenase | Sık (%30–79) | 1 durumda |
| DLL1delta like canonical Notch ligand 1 | Sık (%30–79) | 4 durumda |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Sık (%30–79) | 1 durumda |
| DRG1developmentally regulated GTP binding protein 1 | Sık (%30–79) | 1 durumda |
| DTYMKdeoxythymidylate kinase | Sık (%30–79) | 1 durumda |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Sık (%30–79) | 1 durumda |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Sık (%30–79) | 2 durumda |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Sık (%30–79) | 1 durumda |
| EIF4Heukaryotic translation initiation factor 4H | Sık (%30–79) | 1 durumda |
| ELNelastin | Sık (%30–79) | 1 durumda |
| EPM2AEPM2A glucan phosphatase, laforin | Sık (%30–79) | 1 durumda |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Sık (%30–79) | 1 durumda |
| ERBB4erb-b2 receptor tyrosine kinase 4 | Sık (%30–79) | 1 durumda |
| EXOSC9exosome component 9 | Sık (%30–79) | 2 durumda |
| FAM177A1family with sequence similarity 177 member A1 | Sık (%30–79) | 1 durumda |
| FBXO7F-box protein 7 | Sık (%30–79) | 1 durumda |
| FDXRferredoxin reductase | Sık (%30–79) | 2 durumda |
| FGF8fibroblast growth factor 8 | Sık (%30–79) | 4 durumda |
| FGFR1fibroblast growth factor receptor 1 | Sık (%30–79) | 3 durumda |
| FIG4FIG4 phosphoinositide 5-phosphatase | Sık (%30–79) | 2 durumda |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Sık (%30–79) | 1 durumda |
| FLVCR1FLVCR choline and heme transporter 1 | Sık (%30–79) | 1 durumda |
| FOXG1forkhead box G1 | Sık (%30–79) | 2 durumda |
| FOXH1forkhead box H1 | Sık (%30–79) | 4 durumda |
| FOXP1forkhead box P1 | Sık (%30–79) | 1 durumda |
| FRMD5FERM domain containing 5 | Sık (%30–79) | 1 durumda |
| FRMPD4FERM and PDZ domain containing 4 | Sık (%30–79) | 1 durumda |
| FRRS1Lferric chelate reductase 1 like | Sık (%30–79) | 1 durumda |
| FTH1ferritin heavy chain 1 | Sık (%30–79) | 1 durumda |
| FUCA1alpha-L-fucosidase 1 | Sık (%30–79) | 1 durumda |
| FUSFUS RNA binding protein | Sık (%30–79) | 1 durumda |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Sık (%30–79) | 2 durumda |
| GAD1glutamate decarboxylase 1 | Sık (%30–79) | 1 durumda |
| GANgigaxonin | Sık (%30–79) | 1 durumda |
| GAS1growth arrest specific 1 | Sık (%30–79) | 4 durumda |
| GDAP2ganglioside induced differentiation associated protein 2 | Sık (%30–79) | 1 durumda |
| GEMIN4gem nuclear organelle associated protein 4 | Sık (%30–79) | 1 durumda |
| GFAPglial fibrillary acidic protein | Sık (%30–79) | 3 durumda |
| GJA1gap junction protein alpha 1 | Sık (%30–79) | 2 durumda |
| GLB1galactosidase beta 1 | Sık (%30–79) | 1 durumda |
| GLE1GLE1 RNA export mediator | Sık (%30–79) | 1 durumda |
| GLI2GLI family zinc finger 2 | Sık (%30–79) | 4 durumda |
| GLT8D1glycosyltransferase 8 domain containing 1 | Sık (%30–79) | 1 durumda |
| GLYCTKglycerate kinase | Sık (%30–79) | 2 durumda |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Sık (%30–79) | 2 durumda |
| GPT2glutamic--pyruvic transaminase 2 | Sık (%30–79) | 1 durumda |
| GRIA4glutamate ionotropic receptor AMPA type subunit 4 | Sık (%30–79) | 1 durumda |
| GTF2Igeneral transcription factor IIi | Sık (%30–79) | 1 durumda |
| GTF2IRD1GTF2I repeat domain containing 1 | Sık (%30–79) | 1 durumda |
| GTF2IRD2GTF2I repeat domain containing 2 | Sık (%30–79) | 1 durumda |
| GTPBP2GTP binding protein 2 | Sık (%30–79) | 1 durumda |
| GUF1GTP binding elongation factor GUF1 | Sık (%30–79) | 1 durumda |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Sık (%30–79) | 1 durumda |
| HEPACAMhepatic and glial cell adhesion molecule | Sık (%30–79) | 2 durumda |
| HEXBhexosaminidase subunit beta | Sık (%30–79) | 3 durumda |
| HID1HID1 domain containing | Sık (%30–79) | 1 durumda |
| HIKESHIheat shock protein nuclear import factor hikeshi | Sık (%30–79) | 1 durumda |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Sık (%30–79) | 1 durumda |
| HTRA1HtrA serine peptidase 1 | Sık (%30–79) | 2 durumda |
| IARS1isoleucyl-tRNA synthetase 1 | Sık (%30–79) | 2 durumda |
| IBA57iron-sulfur cluster assembly factor IBA57 | Sık (%30–79) | 1 durumda |
| KATNB1katanin regulatory subunit B1 | Sık (%30–79) | 1 durumda |
| KDM5Clysine demethylase 5C | Sık (%30–79) | 2 durumda |
| KIF1Ckinesin family member 1C | Sık (%30–79) | 2 durumda |
| KRASKRas proto-oncogene, GTPase | Sık (%30–79) | 1 durumda |
| LAGE3L antigen family member 3 | Sık (%30–79) | 1 durumda |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Sık (%30–79) | 1 durumda |
| LIMK1LIM domain kinase 1 | Sık (%30–79) | 1 durumda |
| LINGO1leucine rich repeat and Ig domain containing 1 | Sık (%30–79) | 1 durumda |
| LMBRD2LMBR1 domain containing 2 | Sık (%30–79) | 1 durumda |
| LMNB1lamin B1 | Sık (%30–79) | 1 durumda |
| LRP12LDL receptor related protein 12 | Sık (%30–79) | 1 durumda |
| LRPPRCleucine rich pentatricopeptide repeat containing | Sık (%30–79) | 2 durumda |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Sık (%30–79) | 1 durumda |
| MACF1microtubule actin crosslinking factor 1 | Sık (%30–79) | 2 durumda |
| MATR3matrin 3 | Sık (%30–79) | 1 durumda |
| MECP2methyl-CpG binding protein 2 | Sık (%30–79) | 3 durumda |
| MED12mediator complex subunit 12 | Sık (%30–79) | 1 durumda |
| METTL27methyltransferase like 27 | Sık (%30–79) | 1 durumda |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Sık (%30–79) | 1 durumda |
| MLC1modulator of VRAC current 1 | Sık (%30–79) | 2 durumda |
| MRPS34mitochondrial ribosomal protein S34 | Sık (%30–79) | 1 durumda |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Sık (%30–79) | 2 durumda |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Sık (%30–79) | 1 durumda |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Sık (%30–79) | 1 durumda |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Sık (%30–79) | 1 durumda |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Sık (%30–79) | 1 durumda |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Sık (%30–79) | 1 durumda |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Sık (%30–79) | 1 durumda |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Sık (%30–79) | 2 durumda |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Sık (%30–79) | 2 durumda |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Sık (%30–79) | 1 durumda |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Sık (%30–79) | 1 durumda |
| MTR5-methyltetrahydrofolate-homocysteine methyltransferase | Sık (%30–79) | 1 durumda |
| MTRFRmitochondrial translation release factor in rescue | Sık (%30–79) | 1 durumda |
| NCF1neutrophil cytosolic factor 1 | Sık (%30–79) | 1 durumda |
| NDUFA2NADH:ubiquinone oxidoreductase subunit A2 | Sık (%30–79) | 1 durumda |
| NDUFC2NADH:ubiquinone oxidoreductase subunit C2 | Sık (%30–79) | 1 durumda |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Sık (%30–79) | 1 durumda |
| NEFHneurofilament heavy chain | Sık (%30–79) | 2 durumda |
| NEK1NIMA related kinase 1 | Sık (%30–79) | 2 durumda |
| NHLRC1NHL repeat containing E3 ubiquitin protein ligase 1 | Sık (%30–79) | 1 durumda |
| NODALnodal growth differentiation factor | Sık (%30–79) | 4 durumda |
| NOTCH3notch receptor 3 | Sık (%30–79) | 2 durumda |
| NOVA2NOVA alternative splicing regulator 2 | Sık (%30–79) | 1 durumda |
| NTNG1netrin G1 | Sık (%30–79) | 1 durumda |
| NTNG2netrin G2 | Sık (%30–79) | 1 durumda |
| NUP54nucleoporin 54 | Sık (%30–79) | 1 durumda |
| NUP62nucleoporin 62 | Sık (%30–79) | 2 durumda |
| OPTNoptineurin | Sık (%30–79) | 1 durumda |
| PANK2pantothenate kinase 2 | Sık (%30–79) | 3 durumda |
| PEX1peroxisomal biogenesis factor 1 | Sık (%30–79) | 1 durumda |
| PEX10peroxisomal biogenesis factor 10 | Sık (%30–79) | 1 durumda |
| PEX11Bperoxisomal biogenesis factor 11 beta | Sık (%30–79) | 1 durumda |
| PEX12peroxisomal biogenesis factor 12 | Sık (%30–79) | 1 durumda |
| PEX13peroxisomal biogenesis factor 13 | Sık (%30–79) | 1 durumda |
| PEX14peroxisomal biogenesis factor 14 | Sık (%30–79) | 1 durumda |
| PEX16peroxisomal biogenesis factor 16 | Sık (%30–79) | 2 durumda |
| PEX19peroxisomal biogenesis factor 19 | Sık (%30–79) | 1 durumda |
| PEX2peroxisomal biogenesis factor 2 | Sık (%30–79) | 1 durumda |
| PEX26peroxisomal biogenesis factor 26 | Sık (%30–79) | 1 durumda |
| PEX3peroxisomal biogenesis factor 3 | Sık (%30–79) | 1 durumda |
| PEX5peroxisomal biogenesis factor 5 | Sık (%30–79) | 1 durumda |
| PEX6peroxisomal biogenesis factor 6 | Sık (%30–79) | 1 durumda |
| PFN1profilin 1 | Sık (%30–79) | 2 durumda |
| PHGDHphosphoglycerate dehydrogenase | Sık (%30–79) | 1 durumda |
| PI4KAphosphatidylinositol 4-kinase alpha | Sık (%30–79) | 1 durumda |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Sık (%30–79) | 1 durumda |
| PLA2G6phospholipase A2 group VI | Sık (%30–79) | 4 durumda |
| PLCH1phospholipase C eta 1 | Sık (%30–79) | 1 durumda |
| PNPLA6patatin like domain 6, lysophospholipase | Sık (%30–79) | 1 durumda |
| POLGDNA polymerase gamma, catalytic subunit | Sık (%30–79) | 1 durumda |
| POLR1CRNA polymerase I and III subunit C | Sık (%30–79) | 1 durumda |
| POLR3ARNA polymerase III subunit A | Sık (%30–79) | 3 durumda |
| POLR3BRNA polymerase III subunit B | Sık (%30–79) | 3 durumda |
| PQBP1polyglutamine binding protein 1 | Sık (%30–79) | 3 durumda |
| PRPHperipherin | Sık (%30–79) | 2 durumda |
| PTCH1patched 1 | Sık (%30–79) | 4 durumda |
| PYCR2pyrroline-5-carboxylate reductase 2 | Sık (%30–79) | 2 durumda |
| RAB11BRAB11B, member RAS oncogene family | Sık (%30–79) | 1 durumda |
| RALGAPA1Ral GTPase activating protein catalytic subunit alpha 1 | Sık (%30–79) | 1 durumda |
| RANBP2RAN binding protein 2 | Sık (%30–79) | 1 durumda |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Sık (%30–79) | 1 durumda |
| RBMXRNA binding motif protein X-linked | Sık (%30–79) | 2 durumda |
| RFC2replication factor C subunit 2 | Sık (%30–79) | 1 durumda |
| RNF13ring finger protein 13 | Sık (%30–79) | 1 durumda |
| RRP12ribosomal RNA processing 12 homolog | Sık (%30–79) | 1 durumda |
| RUSC2RUN and SH3 domain containing 2 | Sık (%30–79) | 1 durumda |
| SACSsacsin molecular chaperone | Sık (%30–79) | 2 durumda |
| SCYL1SCY1 like pseudokinase 1 | Sık (%30–79) | 2 durumda |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Sık (%30–79) | 2 durumda |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Sık (%30–79) | 1 durumda |
| SDHDsuccinate dehydrogenase complex subunit D | Sık (%30–79) | 1 durumda |
| SHHsonic hedgehog signaling molecule | Sık (%30–79) | 4 durumda |
| SIL1SIL1 nucleotide exchange factor | Sık (%30–79) | 2 durumda |
| SIX3SIX homeobox 3 | Sık (%30–79) | 4 durumda |
| SLC12A6solute carrier family 12 member 6 | Sık (%30–79) | 1 durumda |
| SLC16A2solute carrier family 16 member 2 | Sık (%30–79) | 1 durumda |
| SLC39A14solute carrier family 39 member 14 | Sık (%30–79) | 2 durumda |
| SLC5A6solute carrier family 5 member 6 | Sık (%30–79) | 1 durumda |
| SMC1Astructural maintenance of chromosomes 1A | Sık (%30–79) | 2 durumda |
| SNCAsynuclein alpha | Sık (%30–79) | 2 durumda |
| SOD1superoxide dismutase 1 | Sık (%30–79) | 2 durumda |
| SPARTspartin | Sık (%30–79) | 1 durumda |
| SPASTspastin | Sık (%30–79) | 1 durumda |
| SPG21SPG21 abhydrolase domain containing, maspardin | Sık (%30–79) | 1 durumda |
| SQSTM1sequestosome 1 | Sık (%30–79) | 1 durumda |
| SRPX2sushi repeat containing protein X-linked 2 | Sık (%30–79) | 1 durumda |
| STAG2STAG2 cohesin complex component | Sık (%30–79) | 2 durumda |
| STILSTIL centriolar assembly protein | Sık (%30–79) | 4 durumda |
| STN1STN1 subunit of CST complex | Sık (%30–79) | 1 durumda |
| STX1Asyntaxin 1A | Sık (%30–79) | 1 durumda |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Sık (%30–79) | 2 durumda |
| TAF1TATA-box binding protein associated factor 1 | Sık (%30–79) | 1 durumda |
| TAF15TATA-box binding protein associated factor 15 | Sık (%30–79) | 1 durumda |
| TAF2TATA-box binding protein associated factor 2 | Sık (%30–79) | 2 durumda |
| TARDBPTAR DNA binding protein | Sık (%30–79) | 2 durumda |
| TBK1TANK binding kinase 1 | Sık (%30–79) | 1 durumda |
| TBL2transducin beta like 2 | Sık (%30–79) | 1 durumda |
| TBPTATA-box binding protein | Sık (%30–79) | 1 durumda |
| TELO2telomere maintenance 2 | Sık (%30–79) | 2 durumda |
| TGFB1transforming growth factor beta 1 | Sık (%30–79) | 1 durumda |
| TGIF1TGFB induced factor homeobox 1 | Sık (%30–79) | 4 durumda |
| TMEM270transmembrane protein 270 | Sık (%30–79) | 1 durumda |
| TOE1target of EGR1, exonuclease | Sık (%30–79) | 2 durumda |
| TPK1thiamin pyrophosphokinase 1 | Sık (%30–79) | 1 durumda |
| TRAPPC12trafficking protein particle complex subunit 12 | Sık (%30–79) | 1 durumda |
| TREM2triggering receptor expressed on myeloid cells 2 | Sık (%30–79) | 3 durumda |
| TUBA1Atubulin alpha 1a | Sık (%30–79) | 1 durumda |
| TUBA4Atubulin alpha 4a | Sık (%30–79) | 1 durumda |
| TUBB3tubulin beta 3 class III | Sık (%30–79) | 2 durumda |
| TYROBPtransmembrane immune signaling adaptor TYROBP | Sık (%30–79) | 2 durumda |
| UBQLN2ubiquilin 2 | Sık (%30–79) | 1 durumda |
| UGDHUDP-glucose 6-dehydrogenase | Sık (%30–79) | 1 durumda |
| UGP2UDP-glucose pyrophosphorylase 2 | Sık (%30–79) | 1 durumda |
| UNC13Aunc-13 homolog A | Sık (%30–79) | 1 durumda |
| VAPBVAMP associated protein B and C | Sık (%30–79) | 1 durumda |
| VCPvalosin containing protein | Sık (%30–79) | 2 durumda |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Sık (%30–79) | 2 durumda |
| VPS13Cvacuolar protein sorting 13 homolog C | Sık (%30–79) | 2 durumda |
| VPS13Dvacuolar protein sorting 13 homolog D | Sık (%30–79) | 1 durumda |
| VPS37DVPS37D subunit of ESCRT-I | Sık (%30–79) | 1 durumda |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Sık (%30–79) | 1 durumda |
| WDR73WD repeat domain 73 | Sık (%30–79) | 2 durumda |
| ZEB2zinc finger E-box binding homeobox 2 | Sık (%30–79) | 2 durumda |
| ZFYVE26zinc finger FYVE-type containing 26 | Sık (%30–79) | 1 durumda |
| ZIC2Zic family zinc finger 2 | Sık (%30–79) | 4 durumda |
| ZNF592zinc finger protein 592 | Sık (%30–79) | 1 durumda |
| ABHD12abhydrolase domain containing 12, lysophospholipase | Bazen (%5–29) | 1 durumda |
| ACAT1acetyl-CoA acetyltransferase 1 | Bazen (%5–29) | 1 durumda |
| ACTL6Bactin like 6B | Bazen (%5–29) | 1 durumda |
| ADARB1adenosine deaminase RNA specific B1 | Bazen (%5–29) | 1 durumda |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Bazen (%5–29) | 1 durumda |
| ARL6ARF like GTPase 6 | Bazen (%5–29) | 1 durumda |
| ARSAarylsulfatase A | Bazen (%5–29) | 3 durumda |
| ASAH1N-acylsphingosine amidohydrolase 1 | Bazen (%5–29) | 1 durumda |
| ASPAaspartoacylase | Bazen (%5–29) | 1 durumda |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Bazen (%5–29) | 1 durumda |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Bazen (%5–29) | 1 durumda |
| AUHAU RNA binding methylglutaconyl-CoA hydratase | Bazen (%5–29) | 1 durumda |
| AUTS2activator of transcription and developmental regulator AUTS2 | Bazen (%5–29) | 1 durumda |
| BBIP1BBSome interacting protein 1 | Bazen (%5–29) | 1 durumda |
| BBS1Bardet-Biedl syndrome 1 | Bazen (%5–29) | 1 durumda |
| BBS10Bardet-Biedl syndrome 10 | Bazen (%5–29) | 1 durumda |
| BBS12Bardet-Biedl syndrome 12 | Bazen (%5–29) | 1 durumda |
| BBS2Bardet-Biedl syndrome 2 | Bazen (%5–29) | 1 durumda |
| BBS4Bardet-Biedl syndrome 4 | Bazen (%5–29) | 1 durumda |
| BBS5Bardet-Biedl syndrome 5 | Bazen (%5–29) | 1 durumda |
| BBS7Bardet-Biedl syndrome 7 | Bazen (%5–29) | 1 durumda |
| BBS9Bardet-Biedl syndrome 9 | Bazen (%5–29) | 1 durumda |
| BCL11BBCL11 transcription factor B | Bazen (%5–29) | 1 durumda |
| BEAN1brain expressed associated with NEDD4 1 | Bazen (%5–29) | 1 durumda |
| BRPF1bromodomain and PHD finger containing 1 | Bazen (%5–29) | 1 durumda |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Bazen (%5–29) | 1 durumda |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Bazen (%5–29) | 1 durumda |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Bazen (%5–29) | 1 durumda |
| CARS1cysteinyl-tRNA synthetase 1 | Bazen (%5–29) | 1 durumda |
| CDK19cyclin dependent kinase 19 | Bazen (%5–29) | 1 durumda |
| CELF2CUGBP Elav-like family member 2 | Bazen (%5–29) | 1 durumda |
| CEP19centrosomal protein 19 | Bazen (%5–29) | 1 durumda |
| CEP290centrosomal protein 290 | Bazen (%5–29) | 1 durumda |
| CEP85Lcentrosomal protein 85L | Bazen (%5–29) | 1 durumda |
| CFAP418cilia and flagella associated protein 418 | Bazen (%5–29) | 1 durumda |
| CHMP1Acharged multivesicular body protein 1A | Bazen (%5–29) | 1 durumda |
| CITcitron rho-interacting serine/threonine kinase | Bazen (%5–29) | 1 durumda |
| CLTCclathrin heavy chain | Bazen (%5–29) | 2 durumda |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Bazen (%5–29) | 1 durumda |
| CNTNAP2contactin associated protein 2 | Bazen (%5–29) | 1 durumda |
| CRELD1CRELD disulfide isomerase 1 | Bazen (%5–29) | 1 durumda |
| CYB5Acytochrome b5 type A | Bazen (%5–29) | 1 durumda |
| CYB5R3cytochrome b5 reductase 3 | Bazen (%5–29) | 1 durumda |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Bazen (%5–29) | 2 durumda |
| DALRD3DALR anticodon binding domain containing 3 | Bazen (%5–29) | 1 durumda |
| DBR1debranching RNA lariats 1 | Bazen (%5–29) | 1 durumda |
| DDB2damage specific DNA binding protein 2 | Bazen (%5–29) | 1 durumda |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Bazen (%5–29) | 1 durumda |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Bazen (%5–29) | 2 durumda |
| DHPSdeoxyhypusine synthase | Bazen (%5–29) | 1 durumda |
| DMXL2Dmx like 2 | Bazen (%5–29) | 1 durumda |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Bazen (%5–29) | 2 durumda |
| DNM1dynamin 1 | Bazen (%5–29) | 1 durumda |
| DNMT1DNA methyltransferase 1 | Bazen (%5–29) | 2 durumda |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Bazen (%5–29) | 1 durumda |
| EBF3EBF transcription factor 3 | Bazen (%5–29) | 1 durumda |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Bazen (%5–29) | 1 durumda |
| ELOVL4ELOVL fatty acid elongase 4 | Bazen (%5–29) | 1 durumda |
| EXOSC3exosome component 3 | Bazen (%5–29) | 2 durumda |
| EXOSC8exosome component 8 | Bazen (%5–29) | 1 durumda |
| FBXO28F-box protein 28 | Bazen (%5–29) | 1 durumda |
| FGF12fibroblast growth factor 12 | Bazen (%5–29) | 1 durumda |
| FXNfrataxin | Bazen (%5–29) | 1 durumda |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Bazen (%5–29) | 2 durumda |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Bazen (%5–29) | 2 durumda |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Bazen (%5–29) | 1 durumda |
| GCH1GTP cyclohydrolase 1 | Bazen (%5–29) | 1 durumda |
| GFM1G elongation factor mitochondrial 1 | Bazen (%5–29) | 2 durumda |
| GMPPAGDP-mannose pyrophosphorylase A | Bazen (%5–29) | 1 durumda |
| GNAO1G protein subunit alpha o1 | Bazen (%5–29) | 2 durumda |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Bazen (%5–29) | 1 durumda |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Bazen (%5–29) | 1 durumda |
| GRM1glutamate metabotropic receptor 1 | Bazen (%5–29) | 1 durumda |
| GRM7glutamate metabotropic receptor 7 | Bazen (%5–29) | 1 durumda |
| GTF2E2general transcription factor IIE subunit 2 | Bazen (%5–29) | 1 durumda |
| GTF2H5general transcription factor IIH subunit 5 | Bazen (%5–29) | 1 durumda |
| H3-3AH3.3 histone A | Bazen (%5–29) | 1 durumda |
| H4C5H4 clustered histone 5 | Bazen (%5–29) | 1 durumda |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Bazen (%5–29) | 1 durumda |
| HTRA2HtrA serine peptidase 2 | Bazen (%5–29) | 1 durumda |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Bazen (%5–29) | 1 durumda |
| IFT172intraflagellar transport 172 | Bazen (%5–29) | 1 durumda |
| IFT27intraflagellar transport 27 | Bazen (%5–29) | 1 durumda |
| IFT56intraflagellar transport 56 | Bazen (%5–29) | 1 durumda |
| IFT74intraflagellar transport 74 | Bazen (%5–29) | 1 durumda |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Bazen (%5–29) | 2 durumda |
| IRF2BPLinterferon regulatory factor 2 binding protein like | Bazen (%5–29) | 1 durumda |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Bazen (%5–29) | 1 durumda |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Bazen (%5–29) | 1 durumda |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Bazen (%5–29) | 1 durumda |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Bazen (%5–29) | 1 durumda |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Bazen (%5–29) | 1 durumda |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Bazen (%5–29) | 1 durumda |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Bazen (%5–29) | 1 durumda |
| KIF11kinesin family member 11 | Bazen (%5–29) | 1 durumda |
| KMT2Blysine methyltransferase 2B | Bazen (%5–29) | 1 durumda |
| LRRK2leucine rich repeat kinase 2 | Bazen (%5–29) | 1 durumda |
| LZTFL1leucine zipper transcription factor like 1 | Bazen (%5–29) | 1 durumda |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Bazen (%5–29) | 1 durumda |
| MCCC2methylcrotonyl-CoA carboxylase subunit 2 | Bazen (%5–29) | 1 durumda |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Bazen (%5–29) | 1 durumda |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Bazen (%5–29) | 2 durumda |
| MED25mediator complex subunit 25 | Bazen (%5–29) | 2 durumda |
| MFN2mitofusin 2 | Bazen (%5–29) | 1 durumda |
| MKKSMKKS centrosomal shuttling protein | Bazen (%5–29) | 1 durumda |
| MKS1MKS transition zone complex subunit 1 | Bazen (%5–29) | 1 durumda |
| MORC2MORC family CW-type zinc finger 2 | Bazen (%5–29) | 1 durumda |
| MPLKIPM-phase specific PLK1 interacting protein | Bazen (%5–29) | 1 durumda |
| MTO1mitochondrial tRNA translation optimization 1 | Bazen (%5–29) | 1 durumda |
| MYO5Amyosin VA | Bazen (%5–29) | 1 durumda |
| NACC1nucleus accumbens associated 1 | Bazen (%5–29) | 2 durumda |
| NAXENAD(P)HX epimerase | Bazen (%5–29) | 1 durumda |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Bazen (%5–29) | 1 durumda |
| NECAP1NECAP endocytosis associated 1 | Bazen (%5–29) | 1 durumda |
| NEU1neuraminidase 1 | Bazen (%5–29) | 2 durumda |
| NEUROD2neuronal differentiation 2 | Bazen (%5–29) | 1 durumda |
| NPHP1nephrocystin 1 | Bazen (%5–29) | 1 durumda |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Bazen (%5–29) | 2 durumda |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Bazen (%5–29) | 1 durumda |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Bazen (%5–29) | 1 durumda |
| ODC1ornithine decarboxylase 1 | Bazen (%5–29) | 1 durumda |
| OPA1OPA1 mitochondrial dynamin like GTPase | Bazen (%5–29) | 2 durumda |
| OTUD6BOTU deubiquitinase 6B | Bazen (%5–29) | 1 durumda |
| PACS2phosphofurin acidic cluster sorting protein 2 | Bazen (%5–29) | 1 durumda |
| PARK7Parkinsonism associated deglycase | Bazen (%5–29) | 1 durumda |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Bazen (%5–29) | 2 durumda |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Bazen (%5–29) | 1 durumda |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Bazen (%5–29) | 1 durumda |
| PINK1PTEN induced kinase 1 | Bazen (%5–29) | 1 durumda |
| PMPCApeptidase, mitochondrial processing subunit alpha | Bazen (%5–29) | 2 durumda |
| PNKPpolynucleotide kinase 3'-phosphatase | Bazen (%5–29) | 1 durumda |
| PNPpurine nucleoside phosphorylase | Bazen (%5–29) | 1 durumda |
| PODXLpodocalyxin like | Bazen (%5–29) | 1 durumda |
| POLA1DNA polymerase alpha 1, catalytic subunit | Bazen (%5–29) | 1 durumda |
| POU3F3POU class 3 homeobox 3 | Bazen (%5–29) | 1 durumda |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Bazen (%5–29) | 2 durumda |
| PRKNparkin RBR E3 ubiquitin protein ligase | Bazen (%5–29) | 1 durumda |
| RAB3ARAB3A, member RAS oncogene family | Bazen (%5–29) | 1 durumda |
| RHOBTB2Rho related BTB domain containing 2 | Bazen (%5–29) | 1 durumda |
| RNF113Aring finger protein 113A | Bazen (%5–29) | 1 durumda |
| RNU4-2RNA, U4 small nuclear 2 | Bazen (%5–29) | 1 durumda |
| RTTNrotatin | Bazen (%5–29) | 2 durumda |
| SATB1SATB homeobox 1 | Bazen (%5–29) | 2 durumda |
| SCAPERS-phase cyclin A associated protein in the ER | Bazen (%5–29) | 1 durumda |
| SCLT1sodium channel and clathrin linker 1 | Bazen (%5–29) | 1 durumda |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Bazen (%5–29) | 1 durumda |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Bazen (%5–29) | 2 durumda |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Bazen (%5–29) | 1 durumda |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Bazen (%5–29) | 1 durumda |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Bazen (%5–29) | 1 durumda |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Bazen (%5–29) | 1 durumda |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Bazen (%5–29) | 1 durumda |
| SETD5SET domain containing 5 | Bazen (%5–29) | 1 durumda |
| SIK1salt inducible kinase 1 | Bazen (%5–29) | 1 durumda |
| SLC1A2solute carrier family 1 member 2 | Bazen (%5–29) | 2 durumda |
| SLC25A46solute carrier family 25 member 46 | Bazen (%5–29) | 1 durumda |
| SLC32A1solute carrier family 32 member 1 | Bazen (%5–29) | 1 durumda |
| SLC38A3solute carrier family 38 member 3 | Bazen (%5–29) | 1 durumda |
| SLITRK2SLIT and NTRK like family member 2 | Bazen (%5–29) | 1 durumda |
| SMPD1sphingomyelin phosphodiesterase 1 | Bazen (%5–29) | 2 durumda |
| SNORD118small nucleolar RNA, C/D box 118 | Bazen (%5–29) | 2 durumda |
| SNX14sorting nexin 14 | Bazen (%5–29) | 2 durumda |
| SONSON DNA and RNA binding protein | Bazen (%5–29) | 2 durumda |
| SPTBN2spectrin beta, non-erythrocytic 2 | Bazen (%5–29) | 2 durumda |
| SRD5A3steroid 5 alpha-reductase 3 | Bazen (%5–29) | 1 durumda |
| STUB1STIP1 homology and U-box containing protein 1 | Bazen (%5–29) | 1 durumda |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Bazen (%5–29) | 1 durumda |
| SYNJ1synaptojanin 1 | Bazen (%5–29) | 2 durumda |
| SZT2SZT2 subunit of KICSTOR complex | Bazen (%5–29) | 1 durumda |
| TARS1threonyl-tRNA synthetase 1 | Bazen (%5–29) | 1 durumda |
| THOC2THO complex subunit 2 | Bazen (%5–29) | 1 durumda |
| TIMM50translocase of inner mitochondrial membrane 50 | Bazen (%5–29) | 2 durumda |
| TP53RKTP53 regulating kinase | Bazen (%5–29) | 1 durumda |
| TRAK1trafficking kinesin protein 1 | Bazen (%5–29) | 2 durumda |
| TRIM32tripartite motif containing 32 | Bazen (%5–29) | 1 durumda |
| TRIM8tripartite motif containing 8 | Bazen (%5–29) | 1 durumda |
| TSEN15tRNA splicing endonuclease subunit 15 | Bazen (%5–29) | 1 durumda |
| TSEN34tRNA splicing endonuclease subunit 34 | Bazen (%5–29) | 1 durumda |
| TSEN54tRNA splicing endonuclease subunit 54 | Bazen (%5–29) | 2 durumda |
| TTC8tetratricopeptide repeat domain 8 | Bazen (%5–29) | 1 durumda |
| TUBGCP2tubulin gamma complex component 2 | Bazen (%5–29) | 1 durumda |
| UCHL1ubiquitin C-terminal hydrolase L1 | Bazen (%5–29) | 1 durumda |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Bazen (%5–29) | 1 durumda |
| UFSP2UFM1 specific peptidase 2 | Bazen (%5–29) | 1 durumda |
| VRK1VRK serine/threonine kinase 1 | Bazen (%5–29) | 1 durumda |
| WASHC4WASH complex subunit 4 | Bazen (%5–29) | 1 durumda |
| WDPCPWD repeat containing planar cell polarity effector | Bazen (%5–29) | 1 durumda |
| WDR45BWD repeat domain 45B | Bazen (%5–29) | 1 durumda |
| XPAXPA, DNA damage recognition and repair factor | Bazen (%5–29) | 2 durumda |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Bazen (%5–29) | 1 durumda |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Bazen (%5–29) | 1 durumda |
| DNM1Ldynamin 1L | Seyrek (%1–4) | 1 durumda |
| FDX2ferredoxin 2 | Seyrek (%1–4) | 1 durumda |
| GRIA2glutamate ionotropic receptor AMPA type subunit 2 | Seyrek (%1–4) | 1 durumda |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Seyrek (%1–4) | 2 durumda |
| NEFLneurofilament light chain | Seyrek (%1–4) | 1 durumda |
| PPIBpeptidylprolyl isomerase B | Seyrek (%1–4) | 1 durumda |
| SETBP1SET binding protein 1 | Seyrek (%1–4) | 1 durumda |
| SPTBN1spectrin beta, non-erythrocytic 1 | Seyrek (%1–4) | 1 durumda |
| STXBP1syntaxin binding protein 1 | Seyrek (%1–4) | 1 durumda |
| ABCC8ATP binding cassette subfamily C member 8 | Kaydedilmedi | 1 durumda |
| ADAM22ADAM metallopeptidase domain 22 | Kaydedilmedi | 1 durumda |
| ADSLadenylosuccinate lyase | Kaydedilmedi | 1 durumda |
| AGAaspartylglucosaminidase | Kaydedilmedi | 1 durumda |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Kaydedilmedi | 1 durumda |
| ATP13A2ATPase cation transporting 13A2 | Kaydedilmedi | 1 durumda |
| ATRXATRX chromatin remodeler | Kaydedilmedi | 1 durumda |
| ATXN1ataxin 1 | Kaydedilmedi | 1 durumda |
| ATXN7ataxin 7 | Kaydedilmedi | 1 durumda |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Kaydedilmedi | 1 durumda |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Kaydedilmedi | 1 durumda |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Kaydedilmedi | 1 durumda |
| CNTNAP1contactin associated protein 1 | Kaydedilmedi | 1 durumda |
| COL4A1collagen type IV alpha 1 chain | Kaydedilmedi | 1 durumda |
| CTC1CST telomere replication complex component 1 | Kaydedilmedi | 1 durumda |
| DCXdoublecortin | Kaydedilmedi | 1 durumda |
| DENND5ADENN domain containing 5A | Kaydedilmedi | 1 durumda |
| DYNC1I2dynein cytoplasmic 1 intermediate chain 2 | Kaydedilmedi | 1 durumda |
| ECHS1enoyl-CoA hydratase, short chain 1 | Kaydedilmedi | 1 durumda |
| EIF2B1eukaryotic translation initiation factor 2B subunit alpha | Kaydedilmedi | 1 durumda |
| EML1EMAP like 1 | Kaydedilmedi | 1 durumda |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Kaydedilmedi | 1 durumda |
| FTLferritin light chain | Kaydedilmedi | 1 durumda |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Kaydedilmedi | 1 durumda |
| GLRX5glutaredoxin 5 | Kaydedilmedi | 1 durumda |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Kaydedilmedi | 2 durumda |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Kaydedilmedi | 1 durumda |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Kaydedilmedi | 1 durumda |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Kaydedilmedi | 1 durumda |
| HTThuntingtin | Kaydedilmedi | 1 durumda |
| ITM2Bintegral membrane protein 2B | Kaydedilmedi | 2 durumda |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Kaydedilmedi | 1 durumda |
| MAN2B1mannosidase alpha class 2B member 1 | Kaydedilmedi | 1 durumda |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Kaydedilmedi | 1 durumda |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Kaydedilmedi | 1 durumda |
| MT-TImitochondrially encoded tRNA-Ile (AUU/C) | Kaydedilmedi | 1 durumda |
| MT-TPmitochondrially encoded tRNA-Pro (CCN) | Kaydedilmedi | 1 durumda |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Kaydedilmedi | 1 durumda |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Kaydedilmedi | 1 durumda |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Kaydedilmedi | 1 durumda |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Kaydedilmedi | 1 durumda |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Kaydedilmedi | 1 durumda |
| NPC1NPC intracellular cholesterol transporter 1 | Kaydedilmedi | 1 durumda |
| NPC2NPC intracellular cholesterol transporter 2 | Kaydedilmedi | 1 durumda |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Kaydedilmedi | 1 durumda |
| NUP214nucleoporin 214 | Kaydedilmedi | 1 durumda |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Kaydedilmedi | 1 durumda |
| OPHN1oligophrenin 1 | Kaydedilmedi | 1 durumda |
| OSGEPO-sialoglycoprotein endopeptidase | Kaydedilmedi | 1 durumda |
| PCLOpiccolo presynaptic cytomatrix protein | Kaydedilmedi | 1 durumda |
| PEX7peroxisomal biogenesis factor 7 | Kaydedilmedi | 1 durumda |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Kaydedilmedi | 1 durumda |
| PMPCBpeptidase, mitochondrial processing subunit beta | Kaydedilmedi | 1 durumda |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Kaydedilmedi | 1 durumda |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Kaydedilmedi | 1 durumda |
| PPT1palmitoyl-protein thioesterase 1 | Kaydedilmedi | 1 durumda |
| PRDM8PR/SET domain 8 | Kaydedilmedi | 1 durumda |
| PRNPprion protein (Kanno blood group) | Kaydedilmedi | 1 durumda |
| RAB27ARAB27A, member RAS oncogene family | Kaydedilmedi | 1 durumda |
| RFT1RFT1 glycolipid translocator homolog | Kaydedilmedi | 1 durumda |
| RLIMring finger protein, LIM domain interacting | Kaydedilmedi | 1 durumda |
| RPIAribose 5-phosphate isomerase A | Kaydedilmedi | 1 durumda |
| SLC12A2solute carrier family 12 member 2 | Kaydedilmedi | 1 durumda |
| SLC17A5solute carrier family 17 member 5 | Kaydedilmedi | 1 durumda |
| SLC25A15solute carrier family 25 member 15 | Kaydedilmedi | 1 durumda |
| SLC6A8solute carrier family 6 member 8 | Kaydedilmedi | 1 durumda |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Kaydedilmedi | 1 durumda |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Kaydedilmedi | 1 durumda |
| SUMF1sulfatase modifying factor 1 | Kaydedilmedi | 1 durumda |
| TCF20transcription factor 20 | Kaydedilmedi | 1 durumda |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Kaydedilmedi | 1 durumda |
| TMEM67transmembrane protein 67 | Kaydedilmedi | 1 durumda |
| TPI1triosephosphate isomerase 1 | Kaydedilmedi | 1 durumda |
| TTRtransthyretin | Kaydedilmedi | 1 durumda |
| TUFMTu translation elongation factor, mitochondrial | Kaydedilmedi | 1 durumda |
| TXN2thioredoxin 2 | Kaydedilmedi | 1 durumda |
| UFM1ubiquitin fold modifier 1 | Kaydedilmedi | 1 durumda |
| UNC80unc-80 subunit of NALCN channel complex | Kaydedilmedi | 1 durumda |
| ZC4H2zinc finger C4H2-type containing | Kaydedilmedi | 2 durumda |
| ZNF335zinc finger protein 335 | Kaydedilmedi | 1 durumda |
Bu özelliğin, genin ilişkili olduğu durumlardan birine sahip kişiler arasında ne sıklıkta görüldüğü; Human Phenotype Ontology'nin kaydettiği şekliyle, bunlar arasında en sık görülen oran. Bu sayfalar özellikleri ve bunların arkasındaki araştırmaları anlatır; tanı koymaz. Belirtiler hakkında bir doktora veya genetik danışmana başvurmanız gerekir.
Daha dar özellikler
Daha geniş özellikler
Bilgilerin kaynağı
- Human Phenotype Ontology, 2026-09-01 sürümü: özellik, adları, tanımı ve buna bağlı genler. Ayrıntılar için hpo.jax.org adresine bakın.
- Veri sürümü 2026.10.16-c6eea6bf.
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