Træk
Involuntary muscle stiffness, contraction, or spasm
Klinisk navn: Spasticity
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Resumé
- Også kaldet
- Muscle spasticity, Muscular spasticity
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Ændringer i disse gener forårsager sjældne tilstande, hvor Involuntary muscle stiffness, contraction, or spasm ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| AARS1alanyl-tRNA synthetase 1 | Altid | I 4 tilstande |
| ABCB1ATP binding cassette subfamily B member 1 | Altid | I 1 tilstand |
| ADD3adducin 3 | Altid | I 1 tilstand |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Altid | I 5 tilstande |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Altid | I 2 tilstande |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Altid | I 2 tilstande |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Altid | I 3 tilstande |
| AMPD2adenosine monophosphate deaminase 2 | Altid | I 2 tilstande |
| ANK3ankyrin 3 | Altid | I 2 tilstande |
| ANKLE2ankyrin repeat and LEM domain containing 2 | Altid | I 1 tilstand |
| AP1G1adaptor related protein complex 1 subunit gamma 1 | Altid | I 2 tilstande |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Altid | I 2 tilstande |
| ARL6IP1ARL6 interacting reticulophagy regulator 1 | Altid | I 2 tilstande |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Altid | I 1 tilstand |
| ATAD3AATPase family AAA domain containing 3A | Altid | I 3 tilstande |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Altid | I 3 tilstande |
| C19orf12chromosome 19 open reading frame 12 | Altid | I 2 tilstande |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Altid | I 2 tilstande |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Altid | I 1 tilstand |
| CHP1calcineurin like EF-hand protein 1 | Altid | I 1 tilstand |
| COL4A2collagen type IV alpha 2 chain | Altid | I 1 tilstand |
| COPB2coat protein complex I subunit beta 2 | Altid | I 2 tilstande |
| COX8Acytochrome c oxidase subunit 8A | Altid | I 1 tilstand |
| CST3cystatin C | Altid | I 1 tilstand |
| DHCR2424-dehydrocholesterol reductase | Altid | I 2 tilstande |
| DSTdystonin | Altid | I 1 tilstand |
| EIF2B2eukaryotic translation initiation factor 2B subunit beta | Altid | I 1 tilstand |
| EIF2B4eukaryotic translation initiation factor 2B subunit delta | Altid | I 1 tilstand |
| EIF4A2eukaryotic translation initiation factor 4A2 | Altid | I 1 tilstand |
| ELOVL1ELOVL fatty acid elongase 1 | Altid | I 1 tilstand |
| ENTPD1ectonucleoside triphosphate diphosphohydrolase 1 | Altid | I 2 tilstande |
| ERLIN1ER lipid raft associated 1 | Altid | I 1 tilstand |
| ESAMendothelial cell adhesion molecule | Altid | I 1 tilstand |
| EXOC8exocyst complex component 8 | Altid | I 1 tilstand |
| FAR1fatty acyl-CoA reductase 1 | Altid | I 1 tilstand |
| FEM1Bfem-1 homolog B | Altid | I 1 tilstand |
| FZR1fizzy and cell division cycle 20 related 1 | Altid | I 2 tilstande |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Altid | I 2 tilstande |
| GPRC5BG protein-coupled receptor class C group 5 member B | Altid | I 2 tilstande |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Altid | I 4 tilstande |
Vis 670 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| GTF3C3general transcription factor IIIC subunit 3 | Altid | I 1 tilstand |
| HIVEP2HIVEP zinc finger 2 | Altid | I 1 tilstand |
| IREB2iron responsive element binding protein 2 | Altid | I 1 tilstand |
| ISCA1iron-sulfur cluster assembly 1 | Altid | I 2 tilstande |
| ISCA2iron-sulfur cluster assembly 2 | Altid | I 1 tilstand |
| JAM3junctional adhesion molecule 3 | Altid | I 1 tilstand |
| KDM2Blysine demethylase 2B | Altid | I 1 tilstand |
| KIF1Akinesin family member 1A | Altid | I 2 tilstande |
| KLC4kinesin light chain 4 | Altid | I 1 tilstand |
| LGI1leucine rich glioma inactivated 1 | Altid | I 2 tilstande |
| LSM7LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated | Altid | I 1 tilstand |
| LYRM7LYR motif containing 7 | Altid | I 1 tilstand |
| MAGmyelin associated glycoprotein | Altid | I 2 tilstande |
| MARS1methionyl-tRNA synthetase 1 | Altid | I 1 tilstand |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Altid | I 2 tilstande |
| MAU2MAU2 sister chromatid cohesion factor | Altid | I 1 tilstand |
| MCEEmethylmalonyl-CoA epimerase | Altid | I 1 tilstand |
| MED17mediator complex subunit 17 | Altid | I 1 tilstand |
| MED23mediator complex subunit 23 | Altid | I 1 tilstand |
| MFFmitochondrial fission factor | Altid | I 2 tilstande |
| MTHFSmethenyltetrahydrofolate synthetase | Altid | I 1 tilstand |
| NADK2NAD kinase 2, mitochondrial | Altid | I 1 tilstand |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Altid | I 1 tilstand |
| NIT1nitrilase 1 | Altid | I 1 tilstand |
| NKX6-2NK6 homeobox 2 | Altid | I 1 tilstand |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Altid | I 1 tilstand |
| PCYT2phosphate cytidylyltransferase 2, ethanolamine | Altid | I 1 tilstand |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Altid | I 1 tilstand |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Altid | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Altid | I 2 tilstande |
| PLCB1phospholipase C beta 1 | Altid | I 1 tilstand |
| PNPLA8patatin like domain 8, phospholipase A2 | Altid | I 1 tilstand |
| POLR1ARNA polymerase I subunit A | Altid | I 1 tilstand |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Altid | I 1 tilstand |
| PTPN23protein tyrosine phosphatase non-receptor type 23 | Altid | I 1 tilstand |
| PTRHD1peptidyl-tRNA hydrolase domain containing 1 | Altid | I 1 tilstand |
| RAD50RAD50 double strand break repair protein | Altid | I 1 tilstand |
| REEP2receptor accessory protein 2 | Altid | I 2 tilstande |
| RETREG1reticulophagy regulator 1 | Altid | I 1 tilstand |
| SCYL2SCY1 like pseudokinase 2 | Altid | I 1 tilstand |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Altid | I 1 tilstand |
| SLC1A4solute carrier family 1 member 4 | Altid | I 1 tilstand |
| SLC25A10solute carrier family 25 member 10 | Altid | I 1 tilstand |
| SLC25A12solute carrier family 25 member 12 | Altid | I 1 tilstand |
| SLC25A22solute carrier family 25 member 22 | Altid | I 2 tilstande |
| SNAPC4small nuclear RNA activating complex polypeptide 4 | Altid | I 1 tilstand |
| SPOUT1SPOUT domain containing methyltransferase 1 | Altid | I 1 tilstand |
| SPRsepiapterin reductase | Altid | I 1 tilstand |
| TAF4TATA-box binding protein associated factor 4 | Altid | I 1 tilstand |
| TBC1D23TBC1 domain family member 23 | Altid | I 1 tilstand |
| TBCBtubulin folding cofactor B | Altid | I 1 tilstand |
| TBCEtubulin folding cofactor E | Altid | I 1 tilstand |
| TCTN2tectonic family member 2 | Altid | I 1 tilstand |
| TPRKBTP53RK binding protein | Altid | I 1 tilstand |
| TREX1three prime repair exonuclease 1 | Altid | I 2 tilstande |
| TRIT1tRNA isopentenyltransferase 1 | Altid | I 1 tilstand |
| TRMT5tRNA methyltransferase 5 | Altid | I 1 tilstand |
| TSEN2tRNA splicing endonuclease subunit 2 | Altid | I 2 tilstande |
| TUBB4Atubulin beta 4A class IVa | Altid | I 1 tilstand |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Altid | I 1 tilstand |
| VPS53VPS53 subunit of GARP complex | Altid | I 1 tilstand |
| WWOXWW domain containing oxidoreductase | Altid | I 2 tilstande |
| YIF1BYip1 interacting factor homolog B, membrane trafficking protein | Altid | I 1 tilstand |
| ZBTB11zinc finger and BTB domain containing 11 | Altid | I 1 tilstand |
| ADARadenosine deaminase RNA specific | Meget ofte (80–99 %) | I 2 tilstande |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Meget ofte (80–99 %) | I 2 tilstande |
| ARXaristaless related homeobox | Meget ofte (80–99 %) | I 5 tilstande |
| ATAD1ATPase family AAA domain containing 1 | Meget ofte (80–99 %) | I 1 tilstand |
| ATP7AATPase copper transporting alpha | Meget ofte (80–99 %) | I 1 tilstand |
| BCAS3BCAS3 microtubule associated cell migration factor | Meget ofte (80–99 %) | I 1 tilstand |
| CCT5chaperonin containing TCP1 subunit 5 | Meget ofte (80–99 %) | I 1 tilstand |
| CTNNB1catenin beta 1 | Meget ofte (80–99 %) | I 2 tilstande |
| DEGS1delta 4-desaturase, sphingolipid 1 | Meget ofte (80–99 %) | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Meget ofte (80–99 %) | I 4 tilstande |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Meget ofte (80–99 %) | I 3 tilstande |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Meget ofte (80–99 %) | I 2 tilstande |
| ERCC5ERCC excision repair 5, endonuclease | Meget ofte (80–99 %) | I 3 tilstande |
| ERLIN2ER lipid raft associated 2 | Meget ofte (80–99 %) | I 2 tilstande |
| EXOSC5exosome component 5 | Meget ofte (80–99 %) | I 1 tilstand |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Meget ofte (80–99 %) | I 2 tilstande |
| GALCgalactosylceramidase | Meget ofte (80–99 %) | I 2 tilstande |
| GBA1glucosylceramidase beta 1 | Meget ofte (80–99 %) | I 2 tilstande |
| GBA2glucosylceramidase beta 2 | Meget ofte (80–99 %) | I 1 tilstand |
| GBE11,4-alpha-glucan branching enzyme 1 | Meget ofte (80–99 %) | I 1 tilstand |
| GLRA1glycine receptor alpha 1 | Meget ofte (80–99 %) | I 1 tilstand |
| GLRBglycine receptor beta | Meget ofte (80–99 %) | I 1 tilstand |
| GPHNgephyrin | Meget ofte (80–99 %) | I 1 tilstand |
| HPRT1hypoxanthine phosphoribosyltransferase 1 | Meget ofte (80–99 %) | I 2 tilstande |
| IFIH1interferon induced with helicase C domain 1 | Meget ofte (80–99 %) | I 1 tilstand |
| L1CAML1 cell adhesion molecule | Meget ofte (80–99 %) | I 4 tilstande |
| LSM11LSM11, U7 small nuclear RNA associated | Meget ofte (80–99 %) | I 1 tilstand |
| MED27mediator complex subunit 27 | Meget ofte (80–99 %) | I 1 tilstand |
| NAGAalpha-N-acetylgalactosaminidase | Meget ofte (80–99 %) | I 2 tilstande |
| NSD1nuclear receptor binding SET domain protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| OCLNoccludin | Meget ofte (80–99 %) | I 2 tilstande |
| PLP1proteolipid protein 1 | Meget ofte (80–99 %) | I 2 tilstande |
| PSAPprosaposin | Meget ofte (80–99 %) | I 4 tilstande |
| RAB18RAB18, member RAS oncogene family | Meget ofte (80–99 %) | I 1 tilstand |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Meget ofte (80–99 %) | I 1 tilstand |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Meget ofte (80–99 %) | I 1 tilstand |
| RNASEH2Aribonuclease H2 subunit A | Meget ofte (80–99 %) | I 2 tilstande |
| RNASEH2Bribonuclease H2 subunit B | Meget ofte (80–99 %) | I 1 tilstand |
| RNASEH2Cribonuclease H2 subunit C | Meget ofte (80–99 %) | I 2 tilstande |
| RNASET2ribonuclease T2 | Meget ofte (80–99 %) | I 1 tilstand |
| RNU4ATACRNA, U4atac small nuclear | Meget ofte (80–99 %) | I 1 tilstand |
| RNU7-1RNA, U7 small nuclear 1 | Meget ofte (80–99 %) | I 2 tilstande |
| ROGDIrogdi atypical leucine zipper | Meget ofte (80–99 %) | I 2 tilstande |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Meget ofte (80–99 %) | I 2 tilstande |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Meget ofte (80–99 %) | I 2 tilstande |
| SERAC1serine active site containing 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SLC13A5solute carrier family 13 member 5 | Meget ofte (80–99 %) | I 3 tilstande |
| SLC2A1solute carrier family 2 member 1 | Meget ofte (80–99 %) | I 3 tilstande |
| SLC6A5solute carrier family 6 member 5 | Meget ofte (80–99 %) | I 1 tilstand |
| SOX10SRY-box transcription factor 10 | Meget ofte (80–99 %) | I 2 tilstande |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Meget ofte (80–99 %) | I 1 tilstand |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Meget ofte (80–99 %) | I 1 tilstand |
| SVBPsmall vasohibin binding protein | Meget ofte (80–99 %) | I 1 tilstand |
| TBC1D20TBC1 domain family member 20 | Meget ofte (80–99 %) | I 1 tilstand |
| TBCDtubulin folding cofactor D | Meget ofte (80–99 %) | I 1 tilstand |
| TFGtrafficking from ER to golgi regulator | Meget ofte (80–99 %) | I 1 tilstand |
| TNRtenascin R | Meget ofte (80–99 %) | I 1 tilstand |
| UBA5ubiquitin like modifier activating enzyme 5 | Meget ofte (80–99 %) | I 2 tilstande |
| UBTFupstream binding transcription factor | Meget ofte (80–99 %) | I 2 tilstande |
| VPS4Avacuolar protein sorting 4 homolog A | Meget ofte (80–99 %) | I 1 tilstand |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| ABCD1ATP binding cassette subfamily D member 1 | Ofte (30–79 %) | I 1 tilstand |
| ACBD6acyl-CoA binding domain containing 6 | Ofte (30–79 %) | I 1 tilstand |
| ACP5acid phosphatase 5, tartrate resistant | Ofte (30–79 %) | I 2 tilstande |
| ADAT3adenosine deaminase tRNA specific 3 | Ofte (30–79 %) | I 2 tilstande |
| ADGRG1adhesion G protein-coupled receptor G1 | Ofte (30–79 %) | I 1 tilstand |
| AFG2AAAA ATPase AFG2A | Ofte (30–79 %) | I 2 tilstande |
| AFG2BAAA ATPase AFG2B | Ofte (30–79 %) | I 1 tilstand |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Ofte (30–79 %) | I 2 tilstande |
| AMACRalpha-methylacyl-CoA racemase | Ofte (30–79 %) | I 1 tilstand |
| ANGangiogenin | Ofte (30–79 %) | I 2 tilstande |
| ANXA11annexin A11 | Ofte (30–79 %) | I 1 tilstand |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Ofte (30–79 %) | I 1 tilstand |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Ofte (30–79 %) | I 2 tilstande |
| AQP4aquaporin 4 | Ofte (30–79 %) | I 1 tilstand |
| ARF1ARF GTPase 1 | Ofte (30–79 %) | I 1 tilstand |
| ARPC5actin related protein 2/3 complex subunit 5 | Ofte (30–79 %) | I 1 tilstand |
| ATMATM serine/threonine kinase | Ofte (30–79 %) | I 1 tilstand |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Ofte (30–79 %) | I 1 tilstand |
| ATP6V1AATPase H+ transporting V1 subunit A | Ofte (30–79 %) | I 2 tilstande |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Ofte (30–79 %) | I 1 tilstand |
| ATXN2ataxin 2 | Ofte (30–79 %) | I 2 tilstande |
| ATXN3ataxin 3 | Ofte (30–79 %) | I 4 tilstande |
| ATXN8ataxin 8 | Ofte (30–79 %) | I 2 tilstande |
| ATXN8OSATXN8 opposite strand lncRNA | Ofte (30–79 %) | I 2 tilstande |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Ofte (30–79 %) | I 1 tilstand |
| BOLA3bolA family member 3 | Ofte (30–79 %) | I 2 tilstande |
| BORCS8BLOC-1 related complex subunit 8 | Ofte (30–79 %) | I 1 tilstand |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Ofte (30–79 %) | I 2 tilstande |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Ofte (30–79 %) | I 1 tilstand |
| C2orf69chromosome 2 open reading frame 69 | Ofte (30–79 %) | I 1 tilstand |
| CACNA1Dcalcium voltage-gated channel subunit alpha1 D | Ofte (30–79 %) | I 1 tilstand |
| CASKcalcium/calmodulin dependent serine protein kinase | Ofte (30–79 %) | I 3 tilstande |
| CASP2caspase 2 | Ofte (30–79 %) | I 1 tilstand |
| CCNFcyclin F | Ofte (30–79 %) | I 1 tilstand |
| CDKL5cyclin dependent kinase like 5 | Ofte (30–79 %) | I 2 tilstande |
| CDONcell adhesion associated, oncogene regulated | Ofte (30–79 %) | I 4 tilstande |
| CFAP410cilia and flagella associated protein 410 | Ofte (30–79 %) | I 1 tilstand |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Ofte (30–79 %) | I 1 tilstand |
| CHMP2Bcharged multivesicular body protein 2B | Ofte (30–79 %) | I 1 tilstand |
| CKAP2Lcytoskeleton associated protein 2L | Ofte (30–79 %) | I 1 tilstand |
| CLCN3Cl-/H+ antiporter 3 | Ofte (30–79 %) | I 1 tilstand |
| CLIP2CAP-Gly domain containing linker protein 2 | Ofte (30–79 %) | I 1 tilstand |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Ofte (30–79 %) | I 2 tilstande |
| CLPBClpB family mitochondrial disaggregase | Ofte (30–79 %) | I 2 tilstande |
| COG3component of oligomeric golgi complex 3 | Ofte (30–79 %) | I 1 tilstand |
| COPB1coat protein complex I subunit beta 1 | Ofte (30–79 %) | I 1 tilstand |
| COQ4coenzyme Q4 | Ofte (30–79 %) | I 1 tilstand |
| CPSF3cleavage and polyadenylation specific factor 3 | Ofte (30–79 %) | I 1 tilstand |
| CRIPTOcripto, EGF-CFC family member | Ofte (30–79 %) | I 4 tilstande |
| CSF1Rcolony stimulating factor 1 receptor | Ofte (30–79 %) | I 2 tilstande |
| CTSDcathepsin D | Ofte (30–79 %) | I 1 tilstand |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Ofte (30–79 %) | I 2 tilstande |
| DAOD-amino acid oxidase | Ofte (30–79 %) | I 1 tilstand |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 2 tilstande |
| DCTN1dynactin subunit 1 | Ofte (30–79 %) | I 2 tilstande |
| DDX3XDEAD-box helicase 3 X-linked | Ofte (30–79 %) | I 2 tilstande |
| DISP1dispatched RND transporter family member 1 | Ofte (30–79 %) | I 4 tilstande |
| DLDdihydrolipoamide dehydrogenase | Ofte (30–79 %) | I 1 tilstand |
| DLL1delta like canonical Notch ligand 1 | Ofte (30–79 %) | I 4 tilstande |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Ofte (30–79 %) | I 1 tilstand |
| DRG1developmentally regulated GTP binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| DTYMKdeoxythymidylate kinase | Ofte (30–79 %) | I 1 tilstand |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Ofte (30–79 %) | I 1 tilstand |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Ofte (30–79 %) | I 2 tilstande |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Ofte (30–79 %) | I 1 tilstand |
| EIF4Heukaryotic translation initiation factor 4H | Ofte (30–79 %) | I 1 tilstand |
| ELNelastin | Ofte (30–79 %) | I 1 tilstand |
| EPM2AEPM2A glucan phosphatase, laforin | Ofte (30–79 %) | I 1 tilstand |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| ERBB4erb-b2 receptor tyrosine kinase 4 | Ofte (30–79 %) | I 1 tilstand |
| EXOSC9exosome component 9 | Ofte (30–79 %) | I 2 tilstande |
| FAM177A1family with sequence similarity 177 member A1 | Ofte (30–79 %) | I 1 tilstand |
| FBXO7F-box protein 7 | Ofte (30–79 %) | I 1 tilstand |
| FDXRferredoxin reductase | Ofte (30–79 %) | I 2 tilstande |
| FGF8fibroblast growth factor 8 | Ofte (30–79 %) | I 4 tilstande |
| FGFR1fibroblast growth factor receptor 1 | Ofte (30–79 %) | I 3 tilstande |
| FIG4FIG4 phosphoinositide 5-phosphatase | Ofte (30–79 %) | I 2 tilstande |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Ofte (30–79 %) | I 1 tilstand |
| FLVCR1FLVCR choline and heme transporter 1 | Ofte (30–79 %) | I 1 tilstand |
| FOXG1forkhead box G1 | Ofte (30–79 %) | I 2 tilstande |
| FOXH1forkhead box H1 | Ofte (30–79 %) | I 4 tilstande |
| FOXP1forkhead box P1 | Ofte (30–79 %) | I 1 tilstand |
| FRMD5FERM domain containing 5 | Ofte (30–79 %) | I 1 tilstand |
| FRMPD4FERM and PDZ domain containing 4 | Ofte (30–79 %) | I 1 tilstand |
| FRRS1Lferric chelate reductase 1 like | Ofte (30–79 %) | I 1 tilstand |
| FTH1ferritin heavy chain 1 | Ofte (30–79 %) | I 1 tilstand |
| FUCA1alpha-L-fucosidase 1 | Ofte (30–79 %) | I 1 tilstand |
| FUSFUS RNA binding protein | Ofte (30–79 %) | I 1 tilstand |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Ofte (30–79 %) | I 2 tilstande |
| GAD1glutamate decarboxylase 1 | Ofte (30–79 %) | I 1 tilstand |
| GANgigaxonin | Ofte (30–79 %) | I 1 tilstand |
| GAS1growth arrest specific 1 | Ofte (30–79 %) | I 4 tilstande |
| GDAP2ganglioside induced differentiation associated protein 2 | Ofte (30–79 %) | I 1 tilstand |
| GEMIN4gem nuclear organelle associated protein 4 | Ofte (30–79 %) | I 1 tilstand |
| GFAPglial fibrillary acidic protein | Ofte (30–79 %) | I 3 tilstande |
| GJA1gap junction protein alpha 1 | Ofte (30–79 %) | I 2 tilstande |
| GLB1galactosidase beta 1 | Ofte (30–79 %) | I 1 tilstand |
| GLE1GLE1 RNA export mediator | Ofte (30–79 %) | I 1 tilstand |
| GLI2GLI family zinc finger 2 | Ofte (30–79 %) | I 4 tilstande |
| GLT8D1glycosyltransferase 8 domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| GLYCTKglycerate kinase | Ofte (30–79 %) | I 2 tilstande |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Ofte (30–79 %) | I 2 tilstande |
| GPT2glutamic--pyruvic transaminase 2 | Ofte (30–79 %) | I 1 tilstand |
| GRIA4glutamate ionotropic receptor AMPA type subunit 4 | Ofte (30–79 %) | I 1 tilstand |
| GTF2Igeneral transcription factor IIi | Ofte (30–79 %) | I 1 tilstand |
| GTF2IRD1GTF2I repeat domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| GTF2IRD2GTF2I repeat domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| GTPBP2GTP binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| GUF1GTP binding elongation factor GUF1 | Ofte (30–79 %) | I 1 tilstand |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Ofte (30–79 %) | I 1 tilstand |
| HEPACAMhepatic and glial cell adhesion molecule | Ofte (30–79 %) | I 2 tilstande |
| HEXBhexosaminidase subunit beta | Ofte (30–79 %) | I 3 tilstande |
| HID1HID1 domain containing | Ofte (30–79 %) | I 1 tilstand |
| HIKESHIheat shock protein nuclear import factor hikeshi | Ofte (30–79 %) | I 1 tilstand |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Ofte (30–79 %) | I 1 tilstand |
| HTRA1HtrA serine peptidase 1 | Ofte (30–79 %) | I 2 tilstande |
| IARS1isoleucyl-tRNA synthetase 1 | Ofte (30–79 %) | I 2 tilstande |
| IBA57iron-sulfur cluster assembly factor IBA57 | Ofte (30–79 %) | I 1 tilstand |
| KATNB1katanin regulatory subunit B1 | Ofte (30–79 %) | I 1 tilstand |
| KDM5Clysine demethylase 5C | Ofte (30–79 %) | I 2 tilstande |
| KIF1Ckinesin family member 1C | Ofte (30–79 %) | I 2 tilstande |
| KRASKRas proto-oncogene, GTPase | Ofte (30–79 %) | I 1 tilstand |
| LAGE3L antigen family member 3 | Ofte (30–79 %) | I 1 tilstand |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Ofte (30–79 %) | I 1 tilstand |
| LIMK1LIM domain kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| LINGO1leucine rich repeat and Ig domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| LMBRD2LMBR1 domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| LMNB1lamin B1 | Ofte (30–79 %) | I 1 tilstand |
| LRP12LDL receptor related protein 12 | Ofte (30–79 %) | I 1 tilstand |
| LRPPRCleucine rich pentatricopeptide repeat containing | Ofte (30–79 %) | I 2 tilstande |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Ofte (30–79 %) | I 1 tilstand |
| MACF1microtubule actin crosslinking factor 1 | Ofte (30–79 %) | I 2 tilstande |
| MATR3matrin 3 | Ofte (30–79 %) | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Ofte (30–79 %) | I 3 tilstande |
| MED12mediator complex subunit 12 | Ofte (30–79 %) | I 1 tilstand |
| METTL27methyltransferase like 27 | Ofte (30–79 %) | I 1 tilstand |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Ofte (30–79 %) | I 1 tilstand |
| MLC1modulator of VRAC current 1 | Ofte (30–79 %) | I 2 tilstande |
| MRPS34mitochondrial ribosomal protein S34 | Ofte (30–79 %) | I 1 tilstand |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Ofte (30–79 %) | I 2 tilstande |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Ofte (30–79 %) | I 1 tilstand |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Ofte (30–79 %) | I 1 tilstand |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Ofte (30–79 %) | I 1 tilstand |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Ofte (30–79 %) | I 1 tilstand |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Ofte (30–79 %) | I 2 tilstande |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Ofte (30–79 %) | I 2 tilstande |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Ofte (30–79 %) | I 1 tilstand |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Ofte (30–79 %) | I 1 tilstand |
| MTR5-methyltetrahydrofolate-homocysteine methyltransferase | Ofte (30–79 %) | I 1 tilstand |
| MTRFRmitochondrial translation release factor in rescue | Ofte (30–79 %) | I 1 tilstand |
| NCF1neutrophil cytosolic factor 1 | Ofte (30–79 %) | I 1 tilstand |
| NDUFA2NADH:ubiquinone oxidoreductase subunit A2 | Ofte (30–79 %) | I 1 tilstand |
| NDUFC2NADH:ubiquinone oxidoreductase subunit C2 | Ofte (30–79 %) | I 1 tilstand |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Ofte (30–79 %) | I 1 tilstand |
| NEFHneurofilament heavy chain | Ofte (30–79 %) | I 2 tilstande |
| NEK1NIMA related kinase 1 | Ofte (30–79 %) | I 2 tilstande |
| NHLRC1NHL repeat containing E3 ubiquitin protein ligase 1 | Ofte (30–79 %) | I 1 tilstand |
| NODALnodal growth differentiation factor | Ofte (30–79 %) | I 4 tilstande |
| NOTCH3notch receptor 3 | Ofte (30–79 %) | I 2 tilstande |
| NOVA2NOVA alternative splicing regulator 2 | Ofte (30–79 %) | I 1 tilstand |
| NTNG1netrin G1 | Ofte (30–79 %) | I 1 tilstand |
| NTNG2netrin G2 | Ofte (30–79 %) | I 1 tilstand |
| NUP54nucleoporin 54 | Ofte (30–79 %) | I 1 tilstand |
| NUP62nucleoporin 62 | Ofte (30–79 %) | I 2 tilstande |
| OPTNoptineurin | Ofte (30–79 %) | I 1 tilstand |
| PANK2pantothenate kinase 2 | Ofte (30–79 %) | I 3 tilstande |
| PEX1peroxisomal biogenesis factor 1 | Ofte (30–79 %) | I 1 tilstand |
| PEX10peroxisomal biogenesis factor 10 | Ofte (30–79 %) | I 1 tilstand |
| PEX11Bperoxisomal biogenesis factor 11 beta | Ofte (30–79 %) | I 1 tilstand |
| PEX12peroxisomal biogenesis factor 12 | Ofte (30–79 %) | I 1 tilstand |
| PEX13peroxisomal biogenesis factor 13 | Ofte (30–79 %) | I 1 tilstand |
| PEX14peroxisomal biogenesis factor 14 | Ofte (30–79 %) | I 1 tilstand |
| PEX16peroxisomal biogenesis factor 16 | Ofte (30–79 %) | I 2 tilstande |
| PEX19peroxisomal biogenesis factor 19 | Ofte (30–79 %) | I 1 tilstand |
| PEX2peroxisomal biogenesis factor 2 | Ofte (30–79 %) | I 1 tilstand |
| PEX26peroxisomal biogenesis factor 26 | Ofte (30–79 %) | I 1 tilstand |
| PEX3peroxisomal biogenesis factor 3 | Ofte (30–79 %) | I 1 tilstand |
| PEX5peroxisomal biogenesis factor 5 | Ofte (30–79 %) | I 1 tilstand |
| PEX6peroxisomal biogenesis factor 6 | Ofte (30–79 %) | I 1 tilstand |
| PFN1profilin 1 | Ofte (30–79 %) | I 2 tilstande |
| PHGDHphosphoglycerate dehydrogenase | Ofte (30–79 %) | I 1 tilstand |
| PI4KAphosphatidylinositol 4-kinase alpha | Ofte (30–79 %) | I 1 tilstand |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Ofte (30–79 %) | I 1 tilstand |
| PLA2G6phospholipase A2 group VI | Ofte (30–79 %) | I 4 tilstande |
| PLCH1phospholipase C eta 1 | Ofte (30–79 %) | I 1 tilstand |
| PNPLA6patatin like domain 6, lysophospholipase | Ofte (30–79 %) | I 1 tilstand |
| POLGDNA polymerase gamma, catalytic subunit | Ofte (30–79 %) | I 1 tilstand |
| POLR1CRNA polymerase I and III subunit C | Ofte (30–79 %) | I 1 tilstand |
| POLR3ARNA polymerase III subunit A | Ofte (30–79 %) | I 3 tilstande |
| POLR3BRNA polymerase III subunit B | Ofte (30–79 %) | I 3 tilstande |
| PQBP1polyglutamine binding protein 1 | Ofte (30–79 %) | I 3 tilstande |
| PRPHperipherin | Ofte (30–79 %) | I 2 tilstande |
| PTCH1patched 1 | Ofte (30–79 %) | I 4 tilstande |
| PYCR2pyrroline-5-carboxylate reductase 2 | Ofte (30–79 %) | I 2 tilstande |
| RAB11BRAB11B, member RAS oncogene family | Ofte (30–79 %) | I 1 tilstand |
| RALGAPA1Ral GTPase activating protein catalytic subunit alpha 1 | Ofte (30–79 %) | I 1 tilstand |
| RANBP2RAN binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| RBMXRNA binding motif protein X-linked | Ofte (30–79 %) | I 2 tilstande |
| RFC2replication factor C subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| RNF13ring finger protein 13 | Ofte (30–79 %) | I 1 tilstand |
| RRP12ribosomal RNA processing 12 homolog | Ofte (30–79 %) | I 1 tilstand |
| RUSC2RUN and SH3 domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| SACSsacsin molecular chaperone | Ofte (30–79 %) | I 2 tilstande |
| SCYL1SCY1 like pseudokinase 1 | Ofte (30–79 %) | I 2 tilstande |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Ofte (30–79 %) | I 2 tilstande |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Ofte (30–79 %) | I 1 tilstand |
| SDHDsuccinate dehydrogenase complex subunit D | Ofte (30–79 %) | I 1 tilstand |
| SHHsonic hedgehog signaling molecule | Ofte (30–79 %) | I 4 tilstande |
| SIL1SIL1 nucleotide exchange factor | Ofte (30–79 %) | I 2 tilstande |
| SIX3SIX homeobox 3 | Ofte (30–79 %) | I 4 tilstande |
| SLC12A6solute carrier family 12 member 6 | Ofte (30–79 %) | I 1 tilstand |
| SLC16A2solute carrier family 16 member 2 | Ofte (30–79 %) | I 1 tilstand |
| SLC39A14solute carrier family 39 member 14 | Ofte (30–79 %) | I 2 tilstande |
| SLC5A6solute carrier family 5 member 6 | Ofte (30–79 %) | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Ofte (30–79 %) | I 2 tilstande |
| SNCAsynuclein alpha | Ofte (30–79 %) | I 2 tilstande |
| SOD1superoxide dismutase 1 | Ofte (30–79 %) | I 2 tilstande |
| SPARTspartin | Ofte (30–79 %) | I 1 tilstand |
| SPASTspastin | Ofte (30–79 %) | I 1 tilstand |
| SPG21SPG21 abhydrolase domain containing, maspardin | Ofte (30–79 %) | I 1 tilstand |
| SQSTM1sequestosome 1 | Ofte (30–79 %) | I 1 tilstand |
| SRPX2sushi repeat containing protein X-linked 2 | Ofte (30–79 %) | I 1 tilstand |
| STAG2STAG2 cohesin complex component | Ofte (30–79 %) | I 2 tilstande |
| STILSTIL centriolar assembly protein | Ofte (30–79 %) | I 4 tilstande |
| STN1STN1 subunit of CST complex | Ofte (30–79 %) | I 1 tilstand |
| STX1Asyntaxin 1A | Ofte (30–79 %) | I 1 tilstand |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Ofte (30–79 %) | I 2 tilstande |
| TAF1TATA-box binding protein associated factor 1 | Ofte (30–79 %) | I 1 tilstand |
| TAF15TATA-box binding protein associated factor 15 | Ofte (30–79 %) | I 1 tilstand |
| TAF2TATA-box binding protein associated factor 2 | Ofte (30–79 %) | I 2 tilstande |
| TARDBPTAR DNA binding protein | Ofte (30–79 %) | I 2 tilstande |
| TBK1TANK binding kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| TBL2transducin beta like 2 | Ofte (30–79 %) | I 1 tilstand |
| TBPTATA-box binding protein | Ofte (30–79 %) | I 1 tilstand |
| TELO2telomere maintenance 2 | Ofte (30–79 %) | I 2 tilstande |
| TGFB1transforming growth factor beta 1 | Ofte (30–79 %) | I 1 tilstand |
| TGIF1TGFB induced factor homeobox 1 | Ofte (30–79 %) | I 4 tilstande |
| TMEM270transmembrane protein 270 | Ofte (30–79 %) | I 1 tilstand |
| TOE1target of EGR1, exonuclease | Ofte (30–79 %) | I 2 tilstande |
| TPK1thiamin pyrophosphokinase 1 | Ofte (30–79 %) | I 1 tilstand |
| TRAPPC12trafficking protein particle complex subunit 12 | Ofte (30–79 %) | I 1 tilstand |
| TREM2triggering receptor expressed on myeloid cells 2 | Ofte (30–79 %) | I 3 tilstande |
| TUBA1Atubulin alpha 1a | Ofte (30–79 %) | I 1 tilstand |
| TUBA4Atubulin alpha 4a | Ofte (30–79 %) | I 1 tilstand |
| TUBB3tubulin beta 3 class III | Ofte (30–79 %) | I 2 tilstande |
| TYROBPtransmembrane immune signaling adaptor TYROBP | Ofte (30–79 %) | I 2 tilstande |
| UBQLN2ubiquilin 2 | Ofte (30–79 %) | I 1 tilstand |
| UGDHUDP-glucose 6-dehydrogenase | Ofte (30–79 %) | I 1 tilstand |
| UGP2UDP-glucose pyrophosphorylase 2 | Ofte (30–79 %) | I 1 tilstand |
| UNC13Aunc-13 homolog A | Ofte (30–79 %) | I 1 tilstand |
| VAPBVAMP associated protein B and C | Ofte (30–79 %) | I 1 tilstand |
| VCPvalosin containing protein | Ofte (30–79 %) | I 2 tilstande |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Ofte (30–79 %) | I 2 tilstande |
| VPS13Cvacuolar protein sorting 13 homolog C | Ofte (30–79 %) | I 2 tilstande |
| VPS13Dvacuolar protein sorting 13 homolog D | Ofte (30–79 %) | I 1 tilstand |
| VPS37DVPS37D subunit of ESCRT-I | Ofte (30–79 %) | I 1 tilstand |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Ofte (30–79 %) | I 1 tilstand |
| WDR73WD repeat domain 73 | Ofte (30–79 %) | I 2 tilstande |
| ZEB2zinc finger E-box binding homeobox 2 | Ofte (30–79 %) | I 2 tilstande |
| ZFYVE26zinc finger FYVE-type containing 26 | Ofte (30–79 %) | I 1 tilstand |
| ZIC2Zic family zinc finger 2 | Ofte (30–79 %) | I 4 tilstande |
| ZNF592zinc finger protein 592 | Ofte (30–79 %) | I 1 tilstand |
| ABHD12abhydrolase domain containing 12, lysophospholipase | Nogle gange (5–29 %) | I 1 tilstand |
| ACAT1acetyl-CoA acetyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ACTL6Bactin like 6B | Nogle gange (5–29 %) | I 1 tilstand |
| ADARB1adenosine deaminase RNA specific B1 | Nogle gange (5–29 %) | I 1 tilstand |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ARL6ARF like GTPase 6 | Nogle gange (5–29 %) | I 1 tilstand |
| ARSAarylsulfatase A | Nogle gange (5–29 %) | I 3 tilstande |
| ASAH1N-acylsphingosine amidohydrolase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ASPAaspartoacylase | Nogle gange (5–29 %) | I 1 tilstand |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Nogle gange (5–29 %) | I 1 tilstand |
| AUHAU RNA binding methylglutaconyl-CoA hydratase | Nogle gange (5–29 %) | I 1 tilstand |
| AUTS2activator of transcription and developmental regulator AUTS2 | Nogle gange (5–29 %) | I 1 tilstand |
| BBIP1BBSome interacting protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS1Bardet-Biedl syndrome 1 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS10Bardet-Biedl syndrome 10 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS12Bardet-Biedl syndrome 12 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS2Bardet-Biedl syndrome 2 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS4Bardet-Biedl syndrome 4 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS5Bardet-Biedl syndrome 5 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS7Bardet-Biedl syndrome 7 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS9Bardet-Biedl syndrome 9 | Nogle gange (5–29 %) | I 1 tilstand |
| BCL11BBCL11 transcription factor B | Nogle gange (5–29 %) | I 1 tilstand |
| BEAN1brain expressed associated with NEDD4 1 | Nogle gange (5–29 %) | I 1 tilstand |
| BRPF1bromodomain and PHD finger containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Nogle gange (5–29 %) | I 1 tilstand |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Nogle gange (5–29 %) | I 1 tilstand |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Nogle gange (5–29 %) | I 1 tilstand |
| CARS1cysteinyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CDK19cyclin dependent kinase 19 | Nogle gange (5–29 %) | I 1 tilstand |
| CELF2CUGBP Elav-like family member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CEP19centrosomal protein 19 | Nogle gange (5–29 %) | I 1 tilstand |
| CEP290centrosomal protein 290 | Nogle gange (5–29 %) | I 1 tilstand |
| CEP85Lcentrosomal protein 85L | Nogle gange (5–29 %) | I 1 tilstand |
| CFAP418cilia and flagella associated protein 418 | Nogle gange (5–29 %) | I 1 tilstand |
| CHMP1Acharged multivesicular body protein 1A | Nogle gange (5–29 %) | I 1 tilstand |
| CITcitron rho-interacting serine/threonine kinase | Nogle gange (5–29 %) | I 1 tilstand |
| CLTCclathrin heavy chain | Nogle gange (5–29 %) | I 2 tilstande |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CNTNAP2contactin associated protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CRELD1CRELD disulfide isomerase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CYB5Acytochrome b5 type A | Nogle gange (5–29 %) | I 1 tilstand |
| CYB5R3cytochrome b5 reductase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Nogle gange (5–29 %) | I 2 tilstande |
| DALRD3DALR anticodon binding domain containing 3 | Nogle gange (5–29 %) | I 1 tilstand |
| DBR1debranching RNA lariats 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DDB2damage specific DNA binding protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Nogle gange (5–29 %) | I 1 tilstand |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Nogle gange (5–29 %) | I 2 tilstande |
| DHPSdeoxyhypusine synthase | Nogle gange (5–29 %) | I 1 tilstand |
| DMXL2Dmx like 2 | Nogle gange (5–29 %) | I 1 tilstand |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Nogle gange (5–29 %) | I 2 tilstande |
| DNM1dynamin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DNMT1DNA methyltransferase 1 | Nogle gange (5–29 %) | I 2 tilstande |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Nogle gange (5–29 %) | I 1 tilstand |
| EBF3EBF transcription factor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ELOVL4ELOVL fatty acid elongase 4 | Nogle gange (5–29 %) | I 1 tilstand |
| EXOSC3exosome component 3 | Nogle gange (5–29 %) | I 2 tilstande |
| EXOSC8exosome component 8 | Nogle gange (5–29 %) | I 1 tilstand |
| FBXO28F-box protein 28 | Nogle gange (5–29 %) | I 1 tilstand |
| FGF12fibroblast growth factor 12 | Nogle gange (5–29 %) | I 1 tilstand |
| FXNfrataxin | Nogle gange (5–29 %) | I 1 tilstand |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Nogle gange (5–29 %) | I 2 tilstande |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Nogle gange (5–29 %) | I 2 tilstande |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Nogle gange (5–29 %) | I 1 tilstand |
| GCH1GTP cyclohydrolase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GFM1G elongation factor mitochondrial 1 | Nogle gange (5–29 %) | I 2 tilstande |
| GMPPAGDP-mannose pyrophosphorylase A | Nogle gange (5–29 %) | I 1 tilstand |
| GNAO1G protein subunit alpha o1 | Nogle gange (5–29 %) | I 2 tilstande |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Nogle gange (5–29 %) | I 1 tilstand |
| GRM1glutamate metabotropic receptor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GRM7glutamate metabotropic receptor 7 | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2E2general transcription factor IIE subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2H5general transcription factor IIH subunit 5 | Nogle gange (5–29 %) | I 1 tilstand |
| H3-3AH3.3 histone A | Nogle gange (5–29 %) | I 1 tilstand |
| H4C5H4 clustered histone 5 | Nogle gange (5–29 %) | I 1 tilstand |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HTRA2HtrA serine peptidase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| IFT172intraflagellar transport 172 | Nogle gange (5–29 %) | I 1 tilstand |
| IFT27intraflagellar transport 27 | Nogle gange (5–29 %) | I 1 tilstand |
| IFT56intraflagellar transport 56 | Nogle gange (5–29 %) | I 1 tilstand |
| IFT74intraflagellar transport 74 | Nogle gange (5–29 %) | I 1 tilstand |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Nogle gange (5–29 %) | I 2 tilstande |
| IRF2BPLinterferon regulatory factor 2 binding protein like | Nogle gange (5–29 %) | I 1 tilstand |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Nogle gange (5–29 %) | I 1 tilstand |
| KIF11kinesin family member 11 | Nogle gange (5–29 %) | I 1 tilstand |
| KMT2Blysine methyltransferase 2B | Nogle gange (5–29 %) | I 1 tilstand |
| LRRK2leucine rich repeat kinase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| LZTFL1leucine zipper transcription factor like 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MCCC2methylcrotonyl-CoA carboxylase subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Nogle gange (5–29 %) | I 2 tilstande |
| MED25mediator complex subunit 25 | Nogle gange (5–29 %) | I 2 tilstande |
| MFN2mitofusin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MKKSMKKS centrosomal shuttling protein | Nogle gange (5–29 %) | I 1 tilstand |
| MKS1MKS transition zone complex subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MORC2MORC family CW-type zinc finger 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MPLKIPM-phase specific PLK1 interacting protein | Nogle gange (5–29 %) | I 1 tilstand |
| MTO1mitochondrial tRNA translation optimization 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MYO5Amyosin VA | Nogle gange (5–29 %) | I 1 tilstand |
| NACC1nucleus accumbens associated 1 | Nogle gange (5–29 %) | I 2 tilstande |
| NAXENAD(P)HX epimerase | Nogle gange (5–29 %) | I 1 tilstand |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Nogle gange (5–29 %) | I 1 tilstand |
| NECAP1NECAP endocytosis associated 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NEU1neuraminidase 1 | Nogle gange (5–29 %) | I 2 tilstande |
| NEUROD2neuronal differentiation 2 | Nogle gange (5–29 %) | I 1 tilstand |
| NPHP1nephrocystin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Nogle gange (5–29 %) | I 2 tilstande |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Nogle gange (5–29 %) | I 1 tilstand |
| ODC1ornithine decarboxylase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| OPA1OPA1 mitochondrial dynamin like GTPase | Nogle gange (5–29 %) | I 2 tilstande |
| OTUD6BOTU deubiquitinase 6B | Nogle gange (5–29 %) | I 1 tilstand |
| PACS2phosphofurin acidic cluster sorting protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PARK7Parkinsonism associated deglycase | Nogle gange (5–29 %) | I 1 tilstand |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Nogle gange (5–29 %) | I 2 tilstande |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Nogle gange (5–29 %) | I 1 tilstand |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Nogle gange (5–29 %) | I 1 tilstand |
| PINK1PTEN induced kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PMPCApeptidase, mitochondrial processing subunit alpha | Nogle gange (5–29 %) | I 2 tilstande |
| PNKPpolynucleotide kinase 3'-phosphatase | Nogle gange (5–29 %) | I 1 tilstand |
| PNPpurine nucleoside phosphorylase | Nogle gange (5–29 %) | I 1 tilstand |
| PODXLpodocalyxin like | Nogle gange (5–29 %) | I 1 tilstand |
| POLA1DNA polymerase alpha 1, catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| POU3F3POU class 3 homeobox 3 | Nogle gange (5–29 %) | I 1 tilstand |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Nogle gange (5–29 %) | I 2 tilstande |
| PRKNparkin RBR E3 ubiquitin protein ligase | Nogle gange (5–29 %) | I 1 tilstand |
| RAB3ARAB3A, member RAS oncogene family | Nogle gange (5–29 %) | I 1 tilstand |
| RHOBTB2Rho related BTB domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RNF113Aring finger protein 113A | Nogle gange (5–29 %) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RTTNrotatin | Nogle gange (5–29 %) | I 2 tilstande |
| SATB1SATB homeobox 1 | Nogle gange (5–29 %) | I 2 tilstande |
| SCAPERS-phase cyclin A associated protein in the ER | Nogle gange (5–29 %) | I 1 tilstand |
| SCLT1sodium channel and clathrin linker 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Nogle gange (5–29 %) | I 2 tilstande |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Nogle gange (5–29 %) | I 1 tilstand |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Nogle gange (5–29 %) | I 1 tilstand |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Nogle gange (5–29 %) | I 1 tilstand |
| SETD5SET domain containing 5 | Nogle gange (5–29 %) | I 1 tilstand |
| SIK1salt inducible kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC1A2solute carrier family 1 member 2 | Nogle gange (5–29 %) | I 2 tilstande |
| SLC25A46solute carrier family 25 member 46 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC32A1solute carrier family 32 member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC38A3solute carrier family 38 member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SLITRK2SLIT and NTRK like family member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SMPD1sphingomyelin phosphodiesterase 1 | Nogle gange (5–29 %) | I 2 tilstande |
| SNORD118small nucleolar RNA, C/D box 118 | Nogle gange (5–29 %) | I 2 tilstande |
| SNX14sorting nexin 14 | Nogle gange (5–29 %) | I 2 tilstande |
| SONSON DNA and RNA binding protein | Nogle gange (5–29 %) | I 2 tilstande |
| SPTBN2spectrin beta, non-erythrocytic 2 | Nogle gange (5–29 %) | I 2 tilstande |
| SRD5A3steroid 5 alpha-reductase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| STUB1STIP1 homology and U-box containing protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SYNJ1synaptojanin 1 | Nogle gange (5–29 %) | I 2 tilstande |
| SZT2SZT2 subunit of KICSTOR complex | Nogle gange (5–29 %) | I 1 tilstand |
| TARS1threonyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| THOC2THO complex subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TIMM50translocase of inner mitochondrial membrane 50 | Nogle gange (5–29 %) | I 2 tilstande |
| TP53RKTP53 regulating kinase | Nogle gange (5–29 %) | I 1 tilstand |
| TRAK1trafficking kinesin protein 1 | Nogle gange (5–29 %) | I 2 tilstande |
| TRIM32tripartite motif containing 32 | Nogle gange (5–29 %) | I 1 tilstand |
| TRIM8tripartite motif containing 8 | Nogle gange (5–29 %) | I 1 tilstand |
| TSEN15tRNA splicing endonuclease subunit 15 | Nogle gange (5–29 %) | I 1 tilstand |
| TSEN34tRNA splicing endonuclease subunit 34 | Nogle gange (5–29 %) | I 1 tilstand |
| TSEN54tRNA splicing endonuclease subunit 54 | Nogle gange (5–29 %) | I 2 tilstande |
| TTC8tetratricopeptide repeat domain 8 | Nogle gange (5–29 %) | I 1 tilstand |
| TUBGCP2tubulin gamma complex component 2 | Nogle gange (5–29 %) | I 1 tilstand |
| UCHL1ubiquitin C-terminal hydrolase L1 | Nogle gange (5–29 %) | I 1 tilstand |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Nogle gange (5–29 %) | I 1 tilstand |
| UFSP2UFM1 specific peptidase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| VRK1VRK serine/threonine kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| WASHC4WASH complex subunit 4 | Nogle gange (5–29 %) | I 1 tilstand |
| WDPCPWD repeat containing planar cell polarity effector | Nogle gange (5–29 %) | I 1 tilstand |
| WDR45BWD repeat domain 45B | Nogle gange (5–29 %) | I 1 tilstand |
| XPAXPA, DNA damage recognition and repair factor | Nogle gange (5–29 %) | I 2 tilstande |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Nogle gange (5–29 %) | I 1 tilstand |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Nogle gange (5–29 %) | I 1 tilstand |
| DNM1Ldynamin 1L | Sjældent (1–4%) | I 1 tilstand |
| FDX2ferredoxin 2 | Sjældent (1–4%) | I 1 tilstand |
| GRIA2glutamate ionotropic receptor AMPA type subunit 2 | Sjældent (1–4%) | I 1 tilstand |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Sjældent (1–4%) | I 2 tilstande |
| NEFLneurofilament light chain | Sjældent (1–4%) | I 1 tilstand |
| PPIBpeptidylprolyl isomerase B | Sjældent (1–4%) | I 1 tilstand |
| SETBP1SET binding protein 1 | Sjældent (1–4%) | I 1 tilstand |
| SPTBN1spectrin beta, non-erythrocytic 1 | Sjældent (1–4%) | I 1 tilstand |
| STXBP1syntaxin binding protein 1 | Sjældent (1–4%) | I 1 tilstand |
| ABCC8ATP binding cassette subfamily C member 8 | Ikke registreret | I 1 tilstand |
| ADAM22ADAM metallopeptidase domain 22 | Ikke registreret | I 1 tilstand |
| ADSLadenylosuccinate lyase | Ikke registreret | I 1 tilstand |
| AGAaspartylglucosaminidase | Ikke registreret | I 1 tilstand |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Ikke registreret | I 1 tilstand |
| ATP13A2ATPase cation transporting 13A2 | Ikke registreret | I 1 tilstand |
| ATRXATRX chromatin remodeler | Ikke registreret | I 1 tilstand |
| ATXN1ataxin 1 | Ikke registreret | I 1 tilstand |
| ATXN7ataxin 7 | Ikke registreret | I 1 tilstand |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Ikke registreret | I 1 tilstand |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Ikke registreret | I 1 tilstand |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Ikke registreret | I 1 tilstand |
| CNTNAP1contactin associated protein 1 | Ikke registreret | I 1 tilstand |
| COL4A1collagen type IV alpha 1 chain | Ikke registreret | I 1 tilstand |
| CTC1CST telomere replication complex component 1 | Ikke registreret | I 1 tilstand |
| DCXdoublecortin | Ikke registreret | I 1 tilstand |
| DENND5ADENN domain containing 5A | Ikke registreret | I 1 tilstand |
| DYNC1I2dynein cytoplasmic 1 intermediate chain 2 | Ikke registreret | I 1 tilstand |
| ECHS1enoyl-CoA hydratase, short chain 1 | Ikke registreret | I 1 tilstand |
| EIF2B1eukaryotic translation initiation factor 2B subunit alpha | Ikke registreret | I 1 tilstand |
| EML1EMAP like 1 | Ikke registreret | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Ikke registreret | I 1 tilstand |
| FTLferritin light chain | Ikke registreret | I 1 tilstand |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Ikke registreret | I 1 tilstand |
| GLRX5glutaredoxin 5 | Ikke registreret | I 1 tilstand |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Ikke registreret | I 2 tilstande |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Ikke registreret | I 1 tilstand |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Ikke registreret | I 1 tilstand |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Ikke registreret | I 1 tilstand |
| HTThuntingtin | Ikke registreret | I 1 tilstand |
| ITM2Bintegral membrane protein 2B | Ikke registreret | I 2 tilstande |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Ikke registreret | I 1 tilstand |
| MAN2B1mannosidase alpha class 2B member 1 | Ikke registreret | I 1 tilstand |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Ikke registreret | I 1 tilstand |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Ikke registreret | I 1 tilstand |
| MT-TImitochondrially encoded tRNA-Ile (AUU/C) | Ikke registreret | I 1 tilstand |
| MT-TPmitochondrially encoded tRNA-Pro (CCN) | Ikke registreret | I 1 tilstand |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Ikke registreret | I 1 tilstand |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Ikke registreret | I 1 tilstand |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Ikke registreret | I 1 tilstand |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Ikke registreret | I 1 tilstand |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Ikke registreret | I 1 tilstand |
| NPC1NPC intracellular cholesterol transporter 1 | Ikke registreret | I 1 tilstand |
| NPC2NPC intracellular cholesterol transporter 2 | Ikke registreret | I 1 tilstand |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Ikke registreret | I 1 tilstand |
| NUP214nucleoporin 214 | Ikke registreret | I 1 tilstand |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Ikke registreret | I 1 tilstand |
| OPHN1oligophrenin 1 | Ikke registreret | I 1 tilstand |
| OSGEPO-sialoglycoprotein endopeptidase | Ikke registreret | I 1 tilstand |
| PCLOpiccolo presynaptic cytomatrix protein | Ikke registreret | I 1 tilstand |
| PEX7peroxisomal biogenesis factor 7 | Ikke registreret | I 1 tilstand |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Ikke registreret | I 1 tilstand |
| PMPCBpeptidase, mitochondrial processing subunit beta | Ikke registreret | I 1 tilstand |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Ikke registreret | I 1 tilstand |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Ikke registreret | I 1 tilstand |
| PPT1palmitoyl-protein thioesterase 1 | Ikke registreret | I 1 tilstand |
| PRDM8PR/SET domain 8 | Ikke registreret | I 1 tilstand |
| PRNPprion protein (Kanno blood group) | Ikke registreret | I 1 tilstand |
| RAB27ARAB27A, member RAS oncogene family | Ikke registreret | I 1 tilstand |
| RFT1RFT1 glycolipid translocator homolog | Ikke registreret | I 1 tilstand |
| RLIMring finger protein, LIM domain interacting | Ikke registreret | I 1 tilstand |
| RPIAribose 5-phosphate isomerase A | Ikke registreret | I 1 tilstand |
| SLC12A2solute carrier family 12 member 2 | Ikke registreret | I 1 tilstand |
| SLC17A5solute carrier family 17 member 5 | Ikke registreret | I 1 tilstand |
| SLC25A15solute carrier family 25 member 15 | Ikke registreret | I 1 tilstand |
| SLC6A8solute carrier family 6 member 8 | Ikke registreret | I 1 tilstand |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Ikke registreret | I 1 tilstand |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Ikke registreret | I 1 tilstand |
| SUMF1sulfatase modifying factor 1 | Ikke registreret | I 1 tilstand |
| TCF20transcription factor 20 | Ikke registreret | I 1 tilstand |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Ikke registreret | I 1 tilstand |
| TMEM67transmembrane protein 67 | Ikke registreret | I 1 tilstand |
| TPI1triosephosphate isomerase 1 | Ikke registreret | I 1 tilstand |
| TTRtransthyretin | Ikke registreret | I 1 tilstand |
| TUFMTu translation elongation factor, mitochondrial | Ikke registreret | I 1 tilstand |
| TXN2thioredoxin 2 | Ikke registreret | I 1 tilstand |
| UFM1ubiquitin fold modifier 1 | Ikke registreret | I 1 tilstand |
| UNC80unc-80 subunit of NALCN channel complex | Ikke registreret | I 1 tilstand |
| ZC4H2zinc finger C4H2-type containing | Ikke registreret | I 2 tilstande |
| ZNF335zinc finger protein 335 | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
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Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger