Kenmerk
Involuntary muscle stiffness, contraction, or spasm
Klinische naam: Spasticity
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Samenvatting
- Ook bekend als
- Muscle spasticity, Muscular spasticity
ReferentiegenoomGRCh38hg38
Posities op gen- en variantpagina's volgen deze keuze, in deze browser.
Read the genes linked to Involuntary muscle stiffness, contraction, or spasm, and the rest of your genome, with one test.
Vanaf $ 449Gratis verzending · Resultaten binnen 6–8 weken
Mijn Genome Test bestellen710 genen gekoppeld aan Involuntary muscle stiffness, contraction, or spasm
Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Involuntary muscle stiffness, contraction, or spasm voorkomt. De meeste mensen met dit kenmerk hebben geen van die aandoeningen, en een gen op deze lijst zegt niets over het eigen genoom van iemand.
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| AARS1alanyl-tRNA synthetase 1 | Altijd | In 4 aandoeningen |
| ABCB1ATP binding cassette subfamily B member 1 | Altijd | In 1 aandoening |
| ADD3adducin 3 | Altijd | In 1 aandoening |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Altijd | In 5 aandoeningen |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Altijd | In 2 aandoeningen |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Altijd | In 2 aandoeningen |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Altijd | In 3 aandoeningen |
| AMPD2adenosine monophosphate deaminase 2 | Altijd | In 2 aandoeningen |
| ANK3ankyrin 3 | Altijd | In 2 aandoeningen |
| ANKLE2ankyrin repeat and LEM domain containing 2 | Altijd | In 1 aandoening |
| AP1G1adaptor related protein complex 1 subunit gamma 1 | Altijd | In 2 aandoeningen |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Altijd | In 2 aandoeningen |
| ARL6IP1ARL6 interacting reticulophagy regulator 1 | Altijd | In 2 aandoeningen |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Altijd | In 1 aandoening |
| ATAD3AATPase family AAA domain containing 3A | Altijd | In 3 aandoeningen |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Altijd | In 3 aandoeningen |
| C19orf12chromosome 19 open reading frame 12 | Altijd | In 2 aandoeningen |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Altijd | In 2 aandoeningen |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Altijd | In 1 aandoening |
| CHP1calcineurin like EF-hand protein 1 | Altijd | In 1 aandoening |
| COL4A2collagen type IV alpha 2 chain | Altijd | In 1 aandoening |
| COPB2coat protein complex I subunit beta 2 | Altijd | In 2 aandoeningen |
| COX8Acytochrome c oxidase subunit 8A | Altijd | In 1 aandoening |
| CST3cystatin C | Altijd | In 1 aandoening |
| DHCR2424-dehydrocholesterol reductase | Altijd | In 2 aandoeningen |
| DSTdystonin | Altijd | In 1 aandoening |
| EIF2B2eukaryotic translation initiation factor 2B subunit beta | Altijd | In 1 aandoening |
| EIF2B4eukaryotic translation initiation factor 2B subunit delta | Altijd | In 1 aandoening |
| EIF4A2eukaryotic translation initiation factor 4A2 | Altijd | In 1 aandoening |
| ELOVL1ELOVL fatty acid elongase 1 | Altijd | In 1 aandoening |
| ENTPD1ectonucleoside triphosphate diphosphohydrolase 1 | Altijd | In 2 aandoeningen |
| ERLIN1ER lipid raft associated 1 | Altijd | In 1 aandoening |
| ESAMendothelial cell adhesion molecule | Altijd | In 1 aandoening |
| EXOC8exocyst complex component 8 | Altijd | In 1 aandoening |
| FAR1fatty acyl-CoA reductase 1 | Altijd | In 1 aandoening |
| FEM1Bfem-1 homolog B | Altijd | In 1 aandoening |
| FZR1fizzy and cell division cycle 20 related 1 | Altijd | In 2 aandoeningen |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Altijd | In 2 aandoeningen |
| GPRC5BG protein-coupled receptor class C group 5 member B | Altijd | In 2 aandoeningen |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Altijd | In 4 aandoeningen |
Toon nog 670 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| GTF3C3general transcription factor IIIC subunit 3 | Altijd | In 1 aandoening |
| HIVEP2HIVEP zinc finger 2 | Altijd | In 1 aandoening |
| IREB2iron responsive element binding protein 2 | Altijd | In 1 aandoening |
| ISCA1iron-sulfur cluster assembly 1 | Altijd | In 2 aandoeningen |
| ISCA2iron-sulfur cluster assembly 2 | Altijd | In 1 aandoening |
| JAM3junctional adhesion molecule 3 | Altijd | In 1 aandoening |
| KDM2Blysine demethylase 2B | Altijd | In 1 aandoening |
| KIF1Akinesin family member 1A | Altijd | In 2 aandoeningen |
| KLC4kinesin light chain 4 | Altijd | In 1 aandoening |
| LGI1leucine rich glioma inactivated 1 | Altijd | In 2 aandoeningen |
| LSM7LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated | Altijd | In 1 aandoening |
| LYRM7LYR motif containing 7 | Altijd | In 1 aandoening |
| MAGmyelin associated glycoprotein | Altijd | In 2 aandoeningen |
| MARS1methionyl-tRNA synthetase 1 | Altijd | In 1 aandoening |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Altijd | In 2 aandoeningen |
| MAU2MAU2 sister chromatid cohesion factor | Altijd | In 1 aandoening |
| MCEEmethylmalonyl-CoA epimerase | Altijd | In 1 aandoening |
| MED17mediator complex subunit 17 | Altijd | In 1 aandoening |
| MED23mediator complex subunit 23 | Altijd | In 1 aandoening |
| MFFmitochondrial fission factor | Altijd | In 2 aandoeningen |
| MTHFSmethenyltetrahydrofolate synthetase | Altijd | In 1 aandoening |
| NADK2NAD kinase 2, mitochondrial | Altijd | In 1 aandoening |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Altijd | In 1 aandoening |
| NIT1nitrilase 1 | Altijd | In 1 aandoening |
| NKX6-2NK6 homeobox 2 | Altijd | In 1 aandoening |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Altijd | In 1 aandoening |
| PCYT2phosphate cytidylyltransferase 2, ethanolamine | Altijd | In 1 aandoening |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Altijd | In 1 aandoening |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Altijd | In 1 aandoening |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Altijd | In 2 aandoeningen |
| PLCB1phospholipase C beta 1 | Altijd | In 1 aandoening |
| PNPLA8patatin like domain 8, phospholipase A2 | Altijd | In 1 aandoening |
| POLR1ARNA polymerase I subunit A | Altijd | In 1 aandoening |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Altijd | In 1 aandoening |
| PTPN23protein tyrosine phosphatase non-receptor type 23 | Altijd | In 1 aandoening |
| PTRHD1peptidyl-tRNA hydrolase domain containing 1 | Altijd | In 1 aandoening |
| RAD50RAD50 double strand break repair protein | Altijd | In 1 aandoening |
| REEP2receptor accessory protein 2 | Altijd | In 2 aandoeningen |
| RETREG1reticulophagy regulator 1 | Altijd | In 1 aandoening |
| SCYL2SCY1 like pseudokinase 2 | Altijd | In 1 aandoening |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Altijd | In 1 aandoening |
| SLC1A4solute carrier family 1 member 4 | Altijd | In 1 aandoening |
| SLC25A10solute carrier family 25 member 10 | Altijd | In 1 aandoening |
| SLC25A12solute carrier family 25 member 12 | Altijd | In 1 aandoening |
| SLC25A22solute carrier family 25 member 22 | Altijd | In 2 aandoeningen |
| SNAPC4small nuclear RNA activating complex polypeptide 4 | Altijd | In 1 aandoening |
| SPOUT1SPOUT domain containing methyltransferase 1 | Altijd | In 1 aandoening |
| SPRsepiapterin reductase | Altijd | In 1 aandoening |
| TAF4TATA-box binding protein associated factor 4 | Altijd | In 1 aandoening |
| TBC1D23TBC1 domain family member 23 | Altijd | In 1 aandoening |
| TBCBtubulin folding cofactor B | Altijd | In 1 aandoening |
| TBCEtubulin folding cofactor E | Altijd | In 1 aandoening |
| TCTN2tectonic family member 2 | Altijd | In 1 aandoening |
| TPRKBTP53RK binding protein | Altijd | In 1 aandoening |
| TREX1three prime repair exonuclease 1 | Altijd | In 2 aandoeningen |
| TRIT1tRNA isopentenyltransferase 1 | Altijd | In 1 aandoening |
| TRMT5tRNA methyltransferase 5 | Altijd | In 1 aandoening |
| TSEN2tRNA splicing endonuclease subunit 2 | Altijd | In 2 aandoeningen |
| TUBB4Atubulin beta 4A class IVa | Altijd | In 1 aandoening |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Altijd | In 1 aandoening |
| VPS53VPS53 subunit of GARP complex | Altijd | In 1 aandoening |
| WWOXWW domain containing oxidoreductase | Altijd | In 2 aandoeningen |
| YIF1BYip1 interacting factor homolog B, membrane trafficking protein | Altijd | In 1 aandoening |
| ZBTB11zinc finger and BTB domain containing 11 | Altijd | In 1 aandoening |
| ADARadenosine deaminase RNA specific | Heel vaak (80–99%) | In 2 aandoeningen |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| ARXaristaless related homeobox | Heel vaak (80–99%) | In 5 aandoeningen |
| ATAD1ATPase family AAA domain containing 1 | Heel vaak (80–99%) | In 1 aandoening |
| ATP7AATPase copper transporting alpha | Heel vaak (80–99%) | In 1 aandoening |
| BCAS3BCAS3 microtubule associated cell migration factor | Heel vaak (80–99%) | In 1 aandoening |
| CCT5chaperonin containing TCP1 subunit 5 | Heel vaak (80–99%) | In 1 aandoening |
| CTNNB1catenin beta 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| DEGS1delta 4-desaturase, sphingolipid 1 | Heel vaak (80–99%) | In 1 aandoening |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Heel vaak (80–99%) | In 4 aandoeningen |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Heel vaak (80–99%) | In 3 aandoeningen |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Heel vaak (80–99%) | In 2 aandoeningen |
| ERCC5ERCC excision repair 5, endonuclease | Heel vaak (80–99%) | In 3 aandoeningen |
| ERLIN2ER lipid raft associated 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| EXOSC5exosome component 5 | Heel vaak (80–99%) | In 1 aandoening |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Heel vaak (80–99%) | In 2 aandoeningen |
| GALCgalactosylceramidase | Heel vaak (80–99%) | In 2 aandoeningen |
| GBA1glucosylceramidase beta 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| GBA2glucosylceramidase beta 2 | Heel vaak (80–99%) | In 1 aandoening |
| GBE11,4-alpha-glucan branching enzyme 1 | Heel vaak (80–99%) | In 1 aandoening |
| GLRA1glycine receptor alpha 1 | Heel vaak (80–99%) | In 1 aandoening |
| GLRBglycine receptor beta | Heel vaak (80–99%) | In 1 aandoening |
| GPHNgephyrin | Heel vaak (80–99%) | In 1 aandoening |
| HPRT1hypoxanthine phosphoribosyltransferase 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| IFIH1interferon induced with helicase C domain 1 | Heel vaak (80–99%) | In 1 aandoening |
| L1CAML1 cell adhesion molecule | Heel vaak (80–99%) | In 4 aandoeningen |
| LSM11LSM11, U7 small nuclear RNA associated | Heel vaak (80–99%) | In 1 aandoening |
| MED27mediator complex subunit 27 | Heel vaak (80–99%) | In 1 aandoening |
| NAGAalpha-N-acetylgalactosaminidase | Heel vaak (80–99%) | In 2 aandoeningen |
| NSD1nuclear receptor binding SET domain protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| OCLNoccludin | Heel vaak (80–99%) | In 2 aandoeningen |
| PLP1proteolipid protein 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| PSAPprosaposin | Heel vaak (80–99%) | In 4 aandoeningen |
| RAB18RAB18, member RAS oncogene family | Heel vaak (80–99%) | In 1 aandoening |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Heel vaak (80–99%) | In 1 aandoening |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Heel vaak (80–99%) | In 1 aandoening |
| RNASEH2Aribonuclease H2 subunit A | Heel vaak (80–99%) | In 2 aandoeningen |
| RNASEH2Bribonuclease H2 subunit B | Heel vaak (80–99%) | In 1 aandoening |
| RNASEH2Cribonuclease H2 subunit C | Heel vaak (80–99%) | In 2 aandoeningen |
| RNASET2ribonuclease T2 | Heel vaak (80–99%) | In 1 aandoening |
| RNU4ATACRNA, U4atac small nuclear | Heel vaak (80–99%) | In 1 aandoening |
| RNU7-1RNA, U7 small nuclear 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| ROGDIrogdi atypical leucine zipper | Heel vaak (80–99%) | In 2 aandoeningen |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Heel vaak (80–99%) | In 2 aandoeningen |
| SERAC1serine active site containing 1 | Heel vaak (80–99%) | In 1 aandoening |
| SLC13A5solute carrier family 13 member 5 | Heel vaak (80–99%) | In 3 aandoeningen |
| SLC2A1solute carrier family 2 member 1 | Heel vaak (80–99%) | In 3 aandoeningen |
| SLC6A5solute carrier family 6 member 5 | Heel vaak (80–99%) | In 1 aandoening |
| SOX10SRY-box transcription factor 10 | Heel vaak (80–99%) | In 2 aandoeningen |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Heel vaak (80–99%) | In 1 aandoening |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Heel vaak (80–99%) | In 1 aandoening |
| SVBPsmall vasohibin binding protein | Heel vaak (80–99%) | In 1 aandoening |
| TBC1D20TBC1 domain family member 20 | Heel vaak (80–99%) | In 1 aandoening |
| TBCDtubulin folding cofactor D | Heel vaak (80–99%) | In 1 aandoening |
| TFGtrafficking from ER to golgi regulator | Heel vaak (80–99%) | In 1 aandoening |
| TNRtenascin R | Heel vaak (80–99%) | In 1 aandoening |
| UBA5ubiquitin like modifier activating enzyme 5 | Heel vaak (80–99%) | In 2 aandoeningen |
| UBTFupstream binding transcription factor | Heel vaak (80–99%) | In 2 aandoeningen |
| VPS4Avacuolar protein sorting 4 homolog A | Heel vaak (80–99%) | In 1 aandoening |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Vaak (30–79%) | In 1 aandoening |
| ABCD1ATP binding cassette subfamily D member 1 | Vaak (30–79%) | In 1 aandoening |
| ACBD6acyl-CoA binding domain containing 6 | Vaak (30–79%) | In 1 aandoening |
| ACP5acid phosphatase 5, tartrate resistant | Vaak (30–79%) | In 2 aandoeningen |
| ADAT3adenosine deaminase tRNA specific 3 | Vaak (30–79%) | In 2 aandoeningen |
| ADGRG1adhesion G protein-coupled receptor G1 | Vaak (30–79%) | In 1 aandoening |
| AFG2AAAA ATPase AFG2A | Vaak (30–79%) | In 2 aandoeningen |
| AFG2BAAA ATPase AFG2B | Vaak (30–79%) | In 1 aandoening |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Vaak (30–79%) | In 2 aandoeningen |
| AMACRalpha-methylacyl-CoA racemase | Vaak (30–79%) | In 1 aandoening |
| ANGangiogenin | Vaak (30–79%) | In 2 aandoeningen |
| ANXA11annexin A11 | Vaak (30–79%) | In 1 aandoening |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Vaak (30–79%) | In 1 aandoening |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Vaak (30–79%) | In 2 aandoeningen |
| AQP4aquaporin 4 | Vaak (30–79%) | In 1 aandoening |
| ARF1ARF GTPase 1 | Vaak (30–79%) | In 1 aandoening |
| ARPC5actin related protein 2/3 complex subunit 5 | Vaak (30–79%) | In 1 aandoening |
| ATMATM serine/threonine kinase | Vaak (30–79%) | In 1 aandoening |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Vaak (30–79%) | In 1 aandoening |
| ATP6V1AATPase H+ transporting V1 subunit A | Vaak (30–79%) | In 2 aandoeningen |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Vaak (30–79%) | In 1 aandoening |
| ATXN2ataxin 2 | Vaak (30–79%) | In 2 aandoeningen |
| ATXN3ataxin 3 | Vaak (30–79%) | In 4 aandoeningen |
| ATXN8ataxin 8 | Vaak (30–79%) | In 2 aandoeningen |
| ATXN8OSATXN8 opposite strand lncRNA | Vaak (30–79%) | In 2 aandoeningen |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Vaak (30–79%) | In 1 aandoening |
| BOLA3bolA family member 3 | Vaak (30–79%) | In 2 aandoeningen |
| BORCS8BLOC-1 related complex subunit 8 | Vaak (30–79%) | In 1 aandoening |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Vaak (30–79%) | In 2 aandoeningen |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Vaak (30–79%) | In 1 aandoening |
| C2orf69chromosome 2 open reading frame 69 | Vaak (30–79%) | In 1 aandoening |
| CACNA1Dcalcium voltage-gated channel subunit alpha1 D | Vaak (30–79%) | In 1 aandoening |
| CASKcalcium/calmodulin dependent serine protein kinase | Vaak (30–79%) | In 3 aandoeningen |
| CASP2caspase 2 | Vaak (30–79%) | In 1 aandoening |
| CCNFcyclin F | Vaak (30–79%) | In 1 aandoening |
| CDKL5cyclin dependent kinase like 5 | Vaak (30–79%) | In 2 aandoeningen |
| CDONcell adhesion associated, oncogene regulated | Vaak (30–79%) | In 4 aandoeningen |
| CFAP410cilia and flagella associated protein 410 | Vaak (30–79%) | In 1 aandoening |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Vaak (30–79%) | In 1 aandoening |
| CHMP2Bcharged multivesicular body protein 2B | Vaak (30–79%) | In 1 aandoening |
| CKAP2Lcytoskeleton associated protein 2L | Vaak (30–79%) | In 1 aandoening |
| CLCN3Cl-/H+ antiporter 3 | Vaak (30–79%) | In 1 aandoening |
| CLIP2CAP-Gly domain containing linker protein 2 | Vaak (30–79%) | In 1 aandoening |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Vaak (30–79%) | In 2 aandoeningen |
| CLPBClpB family mitochondrial disaggregase | Vaak (30–79%) | In 2 aandoeningen |
| COG3component of oligomeric golgi complex 3 | Vaak (30–79%) | In 1 aandoening |
| COPB1coat protein complex I subunit beta 1 | Vaak (30–79%) | In 1 aandoening |
| COQ4coenzyme Q4 | Vaak (30–79%) | In 1 aandoening |
| CPSF3cleavage and polyadenylation specific factor 3 | Vaak (30–79%) | In 1 aandoening |
| CRIPTOcripto, EGF-CFC family member | Vaak (30–79%) | In 4 aandoeningen |
| CSF1Rcolony stimulating factor 1 receptor | Vaak (30–79%) | In 2 aandoeningen |
| CTSDcathepsin D | Vaak (30–79%) | In 1 aandoening |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Vaak (30–79%) | In 2 aandoeningen |
| DAOD-amino acid oxidase | Vaak (30–79%) | In 1 aandoening |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Vaak (30–79%) | In 2 aandoeningen |
| DCTN1dynactin subunit 1 | Vaak (30–79%) | In 2 aandoeningen |
| DDX3XDEAD-box helicase 3 X-linked | Vaak (30–79%) | In 2 aandoeningen |
| DISP1dispatched RND transporter family member 1 | Vaak (30–79%) | In 4 aandoeningen |
| DLDdihydrolipoamide dehydrogenase | Vaak (30–79%) | In 1 aandoening |
| DLL1delta like canonical Notch ligand 1 | Vaak (30–79%) | In 4 aandoeningen |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Vaak (30–79%) | In 1 aandoening |
| DRG1developmentally regulated GTP binding protein 1 | Vaak (30–79%) | In 1 aandoening |
| DTYMKdeoxythymidylate kinase | Vaak (30–79%) | In 1 aandoening |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Vaak (30–79%) | In 1 aandoening |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Vaak (30–79%) | In 2 aandoeningen |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Vaak (30–79%) | In 1 aandoening |
| EIF4Heukaryotic translation initiation factor 4H | Vaak (30–79%) | In 1 aandoening |
| ELNelastin | Vaak (30–79%) | In 1 aandoening |
| EPM2AEPM2A glucan phosphatase, laforin | Vaak (30–79%) | In 1 aandoening |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Vaak (30–79%) | In 1 aandoening |
| ERBB4erb-b2 receptor tyrosine kinase 4 | Vaak (30–79%) | In 1 aandoening |
| EXOSC9exosome component 9 | Vaak (30–79%) | In 2 aandoeningen |
| FAM177A1family with sequence similarity 177 member A1 | Vaak (30–79%) | In 1 aandoening |
| FBXO7F-box protein 7 | Vaak (30–79%) | In 1 aandoening |
| FDXRferredoxin reductase | Vaak (30–79%) | In 2 aandoeningen |
| FGF8fibroblast growth factor 8 | Vaak (30–79%) | In 4 aandoeningen |
| FGFR1fibroblast growth factor receptor 1 | Vaak (30–79%) | In 3 aandoeningen |
| FIG4FIG4 phosphoinositide 5-phosphatase | Vaak (30–79%) | In 2 aandoeningen |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Vaak (30–79%) | In 1 aandoening |
| FLVCR1FLVCR choline and heme transporter 1 | Vaak (30–79%) | In 1 aandoening |
| FOXG1forkhead box G1 | Vaak (30–79%) | In 2 aandoeningen |
| FOXH1forkhead box H1 | Vaak (30–79%) | In 4 aandoeningen |
| FOXP1forkhead box P1 | Vaak (30–79%) | In 1 aandoening |
| FRMD5FERM domain containing 5 | Vaak (30–79%) | In 1 aandoening |
| FRMPD4FERM and PDZ domain containing 4 | Vaak (30–79%) | In 1 aandoening |
| FRRS1Lferric chelate reductase 1 like | Vaak (30–79%) | In 1 aandoening |
| FTH1ferritin heavy chain 1 | Vaak (30–79%) | In 1 aandoening |
| FUCA1alpha-L-fucosidase 1 | Vaak (30–79%) | In 1 aandoening |
| FUSFUS RNA binding protein | Vaak (30–79%) | In 1 aandoening |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Vaak (30–79%) | In 2 aandoeningen |
| GAD1glutamate decarboxylase 1 | Vaak (30–79%) | In 1 aandoening |
| GANgigaxonin | Vaak (30–79%) | In 1 aandoening |
| GAS1growth arrest specific 1 | Vaak (30–79%) | In 4 aandoeningen |
| GDAP2ganglioside induced differentiation associated protein 2 | Vaak (30–79%) | In 1 aandoening |
| GEMIN4gem nuclear organelle associated protein 4 | Vaak (30–79%) | In 1 aandoening |
| GFAPglial fibrillary acidic protein | Vaak (30–79%) | In 3 aandoeningen |
| GJA1gap junction protein alpha 1 | Vaak (30–79%) | In 2 aandoeningen |
| GLB1galactosidase beta 1 | Vaak (30–79%) | In 1 aandoening |
| GLE1GLE1 RNA export mediator | Vaak (30–79%) | In 1 aandoening |
| GLI2GLI family zinc finger 2 | Vaak (30–79%) | In 4 aandoeningen |
| GLT8D1glycosyltransferase 8 domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| GLYCTKglycerate kinase | Vaak (30–79%) | In 2 aandoeningen |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Vaak (30–79%) | In 2 aandoeningen |
| GPT2glutamic--pyruvic transaminase 2 | Vaak (30–79%) | In 1 aandoening |
| GRIA4glutamate ionotropic receptor AMPA type subunit 4 | Vaak (30–79%) | In 1 aandoening |
| GTF2Igeneral transcription factor IIi | Vaak (30–79%) | In 1 aandoening |
| GTF2IRD1GTF2I repeat domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| GTF2IRD2GTF2I repeat domain containing 2 | Vaak (30–79%) | In 1 aandoening |
| GTPBP2GTP binding protein 2 | Vaak (30–79%) | In 1 aandoening |
| GUF1GTP binding elongation factor GUF1 | Vaak (30–79%) | In 1 aandoening |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Vaak (30–79%) | In 1 aandoening |
| HEPACAMhepatic and glial cell adhesion molecule | Vaak (30–79%) | In 2 aandoeningen |
| HEXBhexosaminidase subunit beta | Vaak (30–79%) | In 3 aandoeningen |
| HID1HID1 domain containing | Vaak (30–79%) | In 1 aandoening |
| HIKESHIheat shock protein nuclear import factor hikeshi | Vaak (30–79%) | In 1 aandoening |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Vaak (30–79%) | In 1 aandoening |
| HTRA1HtrA serine peptidase 1 | Vaak (30–79%) | In 2 aandoeningen |
| IARS1isoleucyl-tRNA synthetase 1 | Vaak (30–79%) | In 2 aandoeningen |
| IBA57iron-sulfur cluster assembly factor IBA57 | Vaak (30–79%) | In 1 aandoening |
| KATNB1katanin regulatory subunit B1 | Vaak (30–79%) | In 1 aandoening |
| KDM5Clysine demethylase 5C | Vaak (30–79%) | In 2 aandoeningen |
| KIF1Ckinesin family member 1C | Vaak (30–79%) | In 2 aandoeningen |
| KRASKRas proto-oncogene, GTPase | Vaak (30–79%) | In 1 aandoening |
| LAGE3L antigen family member 3 | Vaak (30–79%) | In 1 aandoening |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Vaak (30–79%) | In 1 aandoening |
| LIMK1LIM domain kinase 1 | Vaak (30–79%) | In 1 aandoening |
| LINGO1leucine rich repeat and Ig domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| LMBRD2LMBR1 domain containing 2 | Vaak (30–79%) | In 1 aandoening |
| LMNB1lamin B1 | Vaak (30–79%) | In 1 aandoening |
| LRP12LDL receptor related protein 12 | Vaak (30–79%) | In 1 aandoening |
| LRPPRCleucine rich pentatricopeptide repeat containing | Vaak (30–79%) | In 2 aandoeningen |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Vaak (30–79%) | In 1 aandoening |
| MACF1microtubule actin crosslinking factor 1 | Vaak (30–79%) | In 2 aandoeningen |
| MATR3matrin 3 | Vaak (30–79%) | In 1 aandoening |
| MECP2methyl-CpG binding protein 2 | Vaak (30–79%) | In 3 aandoeningen |
| MED12mediator complex subunit 12 | Vaak (30–79%) | In 1 aandoening |
| METTL27methyltransferase like 27 | Vaak (30–79%) | In 1 aandoening |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Vaak (30–79%) | In 1 aandoening |
| MLC1modulator of VRAC current 1 | Vaak (30–79%) | In 2 aandoeningen |
| MRPS34mitochondrial ribosomal protein S34 | Vaak (30–79%) | In 1 aandoening |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Vaak (30–79%) | In 2 aandoeningen |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Vaak (30–79%) | In 1 aandoening |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Vaak (30–79%) | In 1 aandoening |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Vaak (30–79%) | In 1 aandoening |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Vaak (30–79%) | In 1 aandoening |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Vaak (30–79%) | In 1 aandoening |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Vaak (30–79%) | In 1 aandoening |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Vaak (30–79%) | In 2 aandoeningen |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Vaak (30–79%) | In 2 aandoeningen |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Vaak (30–79%) | In 1 aandoening |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Vaak (30–79%) | In 1 aandoening |
| MTR5-methyltetrahydrofolate-homocysteine methyltransferase | Vaak (30–79%) | In 1 aandoening |
| MTRFRmitochondrial translation release factor in rescue | Vaak (30–79%) | In 1 aandoening |
| NCF1neutrophil cytosolic factor 1 | Vaak (30–79%) | In 1 aandoening |
| NDUFA2NADH:ubiquinone oxidoreductase subunit A2 | Vaak (30–79%) | In 1 aandoening |
| NDUFC2NADH:ubiquinone oxidoreductase subunit C2 | Vaak (30–79%) | In 1 aandoening |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Vaak (30–79%) | In 1 aandoening |
| NEFHneurofilament heavy chain | Vaak (30–79%) | In 2 aandoeningen |
| NEK1NIMA related kinase 1 | Vaak (30–79%) | In 2 aandoeningen |
| NHLRC1NHL repeat containing E3 ubiquitin protein ligase 1 | Vaak (30–79%) | In 1 aandoening |
| NODALnodal growth differentiation factor | Vaak (30–79%) | In 4 aandoeningen |
| NOTCH3notch receptor 3 | Vaak (30–79%) | In 2 aandoeningen |
| NOVA2NOVA alternative splicing regulator 2 | Vaak (30–79%) | In 1 aandoening |
| NTNG1netrin G1 | Vaak (30–79%) | In 1 aandoening |
| NTNG2netrin G2 | Vaak (30–79%) | In 1 aandoening |
| NUP54nucleoporin 54 | Vaak (30–79%) | In 1 aandoening |
| NUP62nucleoporin 62 | Vaak (30–79%) | In 2 aandoeningen |
| OPTNoptineurin | Vaak (30–79%) | In 1 aandoening |
| PANK2pantothenate kinase 2 | Vaak (30–79%) | In 3 aandoeningen |
| PEX1peroxisomal biogenesis factor 1 | Vaak (30–79%) | In 1 aandoening |
| PEX10peroxisomal biogenesis factor 10 | Vaak (30–79%) | In 1 aandoening |
| PEX11Bperoxisomal biogenesis factor 11 beta | Vaak (30–79%) | In 1 aandoening |
| PEX12peroxisomal biogenesis factor 12 | Vaak (30–79%) | In 1 aandoening |
| PEX13peroxisomal biogenesis factor 13 | Vaak (30–79%) | In 1 aandoening |
| PEX14peroxisomal biogenesis factor 14 | Vaak (30–79%) | In 1 aandoening |
| PEX16peroxisomal biogenesis factor 16 | Vaak (30–79%) | In 2 aandoeningen |
| PEX19peroxisomal biogenesis factor 19 | Vaak (30–79%) | In 1 aandoening |
| PEX2peroxisomal biogenesis factor 2 | Vaak (30–79%) | In 1 aandoening |
| PEX26peroxisomal biogenesis factor 26 | Vaak (30–79%) | In 1 aandoening |
| PEX3peroxisomal biogenesis factor 3 | Vaak (30–79%) | In 1 aandoening |
| PEX5peroxisomal biogenesis factor 5 | Vaak (30–79%) | In 1 aandoening |
| PEX6peroxisomal biogenesis factor 6 | Vaak (30–79%) | In 1 aandoening |
| PFN1profilin 1 | Vaak (30–79%) | In 2 aandoeningen |
| PHGDHphosphoglycerate dehydrogenase | Vaak (30–79%) | In 1 aandoening |
| PI4KAphosphatidylinositol 4-kinase alpha | Vaak (30–79%) | In 1 aandoening |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Vaak (30–79%) | In 1 aandoening |
| PLA2G6phospholipase A2 group VI | Vaak (30–79%) | In 4 aandoeningen |
| PLCH1phospholipase C eta 1 | Vaak (30–79%) | In 1 aandoening |
| PNPLA6patatin like domain 6, lysophospholipase | Vaak (30–79%) | In 1 aandoening |
| POLGDNA polymerase gamma, catalytic subunit | Vaak (30–79%) | In 1 aandoening |
| POLR1CRNA polymerase I and III subunit C | Vaak (30–79%) | In 1 aandoening |
| POLR3ARNA polymerase III subunit A | Vaak (30–79%) | In 3 aandoeningen |
| POLR3BRNA polymerase III subunit B | Vaak (30–79%) | In 3 aandoeningen |
| PQBP1polyglutamine binding protein 1 | Vaak (30–79%) | In 3 aandoeningen |
| PRPHperipherin | Vaak (30–79%) | In 2 aandoeningen |
| PTCH1patched 1 | Vaak (30–79%) | In 4 aandoeningen |
| PYCR2pyrroline-5-carboxylate reductase 2 | Vaak (30–79%) | In 2 aandoeningen |
| RAB11BRAB11B, member RAS oncogene family | Vaak (30–79%) | In 1 aandoening |
| RALGAPA1Ral GTPase activating protein catalytic subunit alpha 1 | Vaak (30–79%) | In 1 aandoening |
| RANBP2RAN binding protein 2 | Vaak (30–79%) | In 1 aandoening |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Vaak (30–79%) | In 1 aandoening |
| RBMXRNA binding motif protein X-linked | Vaak (30–79%) | In 2 aandoeningen |
| RFC2replication factor C subunit 2 | Vaak (30–79%) | In 1 aandoening |
| RNF13ring finger protein 13 | Vaak (30–79%) | In 1 aandoening |
| RRP12ribosomal RNA processing 12 homolog | Vaak (30–79%) | In 1 aandoening |
| RUSC2RUN and SH3 domain containing 2 | Vaak (30–79%) | In 1 aandoening |
| SACSsacsin molecular chaperone | Vaak (30–79%) | In 2 aandoeningen |
| SCYL1SCY1 like pseudokinase 1 | Vaak (30–79%) | In 2 aandoeningen |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Vaak (30–79%) | In 2 aandoeningen |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Vaak (30–79%) | In 1 aandoening |
| SDHDsuccinate dehydrogenase complex subunit D | Vaak (30–79%) | In 1 aandoening |
| SHHsonic hedgehog signaling molecule | Vaak (30–79%) | In 4 aandoeningen |
| SIL1SIL1 nucleotide exchange factor | Vaak (30–79%) | In 2 aandoeningen |
| SIX3SIX homeobox 3 | Vaak (30–79%) | In 4 aandoeningen |
| SLC12A6solute carrier family 12 member 6 | Vaak (30–79%) | In 1 aandoening |
| SLC16A2solute carrier family 16 member 2 | Vaak (30–79%) | In 1 aandoening |
| SLC39A14solute carrier family 39 member 14 | Vaak (30–79%) | In 2 aandoeningen |
| SLC5A6solute carrier family 5 member 6 | Vaak (30–79%) | In 1 aandoening |
| SMC1Astructural maintenance of chromosomes 1A | Vaak (30–79%) | In 2 aandoeningen |
| SNCAsynuclein alpha | Vaak (30–79%) | In 2 aandoeningen |
| SOD1superoxide dismutase 1 | Vaak (30–79%) | In 2 aandoeningen |
| SPARTspartin | Vaak (30–79%) | In 1 aandoening |
| SPASTspastin | Vaak (30–79%) | In 1 aandoening |
| SPG21SPG21 abhydrolase domain containing, maspardin | Vaak (30–79%) | In 1 aandoening |
| SQSTM1sequestosome 1 | Vaak (30–79%) | In 1 aandoening |
| SRPX2sushi repeat containing protein X-linked 2 | Vaak (30–79%) | In 1 aandoening |
| STAG2STAG2 cohesin complex component | Vaak (30–79%) | In 2 aandoeningen |
| STILSTIL centriolar assembly protein | Vaak (30–79%) | In 4 aandoeningen |
| STN1STN1 subunit of CST complex | Vaak (30–79%) | In 1 aandoening |
| STX1Asyntaxin 1A | Vaak (30–79%) | In 1 aandoening |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Vaak (30–79%) | In 2 aandoeningen |
| TAF1TATA-box binding protein associated factor 1 | Vaak (30–79%) | In 1 aandoening |
| TAF15TATA-box binding protein associated factor 15 | Vaak (30–79%) | In 1 aandoening |
| TAF2TATA-box binding protein associated factor 2 | Vaak (30–79%) | In 2 aandoeningen |
| TARDBPTAR DNA binding protein | Vaak (30–79%) | In 2 aandoeningen |
| TBK1TANK binding kinase 1 | Vaak (30–79%) | In 1 aandoening |
| TBL2transducin beta like 2 | Vaak (30–79%) | In 1 aandoening |
| TBPTATA-box binding protein | Vaak (30–79%) | In 1 aandoening |
| TELO2telomere maintenance 2 | Vaak (30–79%) | In 2 aandoeningen |
| TGFB1transforming growth factor beta 1 | Vaak (30–79%) | In 1 aandoening |
| TGIF1TGFB induced factor homeobox 1 | Vaak (30–79%) | In 4 aandoeningen |
| TMEM270transmembrane protein 270 | Vaak (30–79%) | In 1 aandoening |
| TOE1target of EGR1, exonuclease | Vaak (30–79%) | In 2 aandoeningen |
| TPK1thiamin pyrophosphokinase 1 | Vaak (30–79%) | In 1 aandoening |
| TRAPPC12trafficking protein particle complex subunit 12 | Vaak (30–79%) | In 1 aandoening |
| TREM2triggering receptor expressed on myeloid cells 2 | Vaak (30–79%) | In 3 aandoeningen |
| TUBA1Atubulin alpha 1a | Vaak (30–79%) | In 1 aandoening |
| TUBA4Atubulin alpha 4a | Vaak (30–79%) | In 1 aandoening |
| TUBB3tubulin beta 3 class III | Vaak (30–79%) | In 2 aandoeningen |
| TYROBPtransmembrane immune signaling adaptor TYROBP | Vaak (30–79%) | In 2 aandoeningen |
| UBQLN2ubiquilin 2 | Vaak (30–79%) | In 1 aandoening |
| UGDHUDP-glucose 6-dehydrogenase | Vaak (30–79%) | In 1 aandoening |
| UGP2UDP-glucose pyrophosphorylase 2 | Vaak (30–79%) | In 1 aandoening |
| UNC13Aunc-13 homolog A | Vaak (30–79%) | In 1 aandoening |
| VAPBVAMP associated protein B and C | Vaak (30–79%) | In 1 aandoening |
| VCPvalosin containing protein | Vaak (30–79%) | In 2 aandoeningen |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Vaak (30–79%) | In 2 aandoeningen |
| VPS13Cvacuolar protein sorting 13 homolog C | Vaak (30–79%) | In 2 aandoeningen |
| VPS13Dvacuolar protein sorting 13 homolog D | Vaak (30–79%) | In 1 aandoening |
| VPS37DVPS37D subunit of ESCRT-I | Vaak (30–79%) | In 1 aandoening |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Vaak (30–79%) | In 1 aandoening |
| WDR73WD repeat domain 73 | Vaak (30–79%) | In 2 aandoeningen |
| ZEB2zinc finger E-box binding homeobox 2 | Vaak (30–79%) | In 2 aandoeningen |
| ZFYVE26zinc finger FYVE-type containing 26 | Vaak (30–79%) | In 1 aandoening |
| ZIC2Zic family zinc finger 2 | Vaak (30–79%) | In 4 aandoeningen |
| ZNF592zinc finger protein 592 | Vaak (30–79%) | In 1 aandoening |
| ABHD12abhydrolase domain containing 12, lysophospholipase | Soms (5–29%) | In 1 aandoening |
| ACAT1acetyl-CoA acetyltransferase 1 | Soms (5–29%) | In 1 aandoening |
| ACTL6Bactin like 6B | Soms (5–29%) | In 1 aandoening |
| ADARB1adenosine deaminase RNA specific B1 | Soms (5–29%) | In 1 aandoening |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Soms (5–29%) | In 1 aandoening |
| ARL6ARF like GTPase 6 | Soms (5–29%) | In 1 aandoening |
| ARSAarylsulfatase A | Soms (5–29%) | In 3 aandoeningen |
| ASAH1N-acylsphingosine amidohydrolase 1 | Soms (5–29%) | In 1 aandoening |
| ASPAaspartoacylase | Soms (5–29%) | In 1 aandoening |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Soms (5–29%) | In 1 aandoening |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Soms (5–29%) | In 1 aandoening |
| AUHAU RNA binding methylglutaconyl-CoA hydratase | Soms (5–29%) | In 1 aandoening |
| AUTS2activator of transcription and developmental regulator AUTS2 | Soms (5–29%) | In 1 aandoening |
| BBIP1BBSome interacting protein 1 | Soms (5–29%) | In 1 aandoening |
| BBS1Bardet-Biedl syndrome 1 | Soms (5–29%) | In 1 aandoening |
| BBS10Bardet-Biedl syndrome 10 | Soms (5–29%) | In 1 aandoening |
| BBS12Bardet-Biedl syndrome 12 | Soms (5–29%) | In 1 aandoening |
| BBS2Bardet-Biedl syndrome 2 | Soms (5–29%) | In 1 aandoening |
| BBS4Bardet-Biedl syndrome 4 | Soms (5–29%) | In 1 aandoening |
| BBS5Bardet-Biedl syndrome 5 | Soms (5–29%) | In 1 aandoening |
| BBS7Bardet-Biedl syndrome 7 | Soms (5–29%) | In 1 aandoening |
| BBS9Bardet-Biedl syndrome 9 | Soms (5–29%) | In 1 aandoening |
| BCL11BBCL11 transcription factor B | Soms (5–29%) | In 1 aandoening |
| BEAN1brain expressed associated with NEDD4 1 | Soms (5–29%) | In 1 aandoening |
| BRPF1bromodomain and PHD finger containing 1 | Soms (5–29%) | In 1 aandoening |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Soms (5–29%) | In 1 aandoening |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Soms (5–29%) | In 1 aandoening |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Soms (5–29%) | In 1 aandoening |
| CARS1cysteinyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| CDK19cyclin dependent kinase 19 | Soms (5–29%) | In 1 aandoening |
| CELF2CUGBP Elav-like family member 2 | Soms (5–29%) | In 1 aandoening |
| CEP19centrosomal protein 19 | Soms (5–29%) | In 1 aandoening |
| CEP290centrosomal protein 290 | Soms (5–29%) | In 1 aandoening |
| CEP85Lcentrosomal protein 85L | Soms (5–29%) | In 1 aandoening |
| CFAP418cilia and flagella associated protein 418 | Soms (5–29%) | In 1 aandoening |
| CHMP1Acharged multivesicular body protein 1A | Soms (5–29%) | In 1 aandoening |
| CITcitron rho-interacting serine/threonine kinase | Soms (5–29%) | In 1 aandoening |
| CLTCclathrin heavy chain | Soms (5–29%) | In 2 aandoeningen |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Soms (5–29%) | In 1 aandoening |
| CNTNAP2contactin associated protein 2 | Soms (5–29%) | In 1 aandoening |
| CRELD1CRELD disulfide isomerase 1 | Soms (5–29%) | In 1 aandoening |
| CYB5Acytochrome b5 type A | Soms (5–29%) | In 1 aandoening |
| CYB5R3cytochrome b5 reductase 3 | Soms (5–29%) | In 1 aandoening |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Soms (5–29%) | In 2 aandoeningen |
| DALRD3DALR anticodon binding domain containing 3 | Soms (5–29%) | In 1 aandoening |
| DBR1debranching RNA lariats 1 | Soms (5–29%) | In 1 aandoening |
| DDB2damage specific DNA binding protein 2 | Soms (5–29%) | In 1 aandoening |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Soms (5–29%) | In 1 aandoening |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Soms (5–29%) | In 2 aandoeningen |
| DHPSdeoxyhypusine synthase | Soms (5–29%) | In 1 aandoening |
| DMXL2Dmx like 2 | Soms (5–29%) | In 1 aandoening |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Soms (5–29%) | In 2 aandoeningen |
| DNM1dynamin 1 | Soms (5–29%) | In 1 aandoening |
| DNMT1DNA methyltransferase 1 | Soms (5–29%) | In 2 aandoeningen |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Soms (5–29%) | In 1 aandoening |
| EBF3EBF transcription factor 3 | Soms (5–29%) | In 1 aandoening |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Soms (5–29%) | In 1 aandoening |
| ELOVL4ELOVL fatty acid elongase 4 | Soms (5–29%) | In 1 aandoening |
| EXOSC3exosome component 3 | Soms (5–29%) | In 2 aandoeningen |
| EXOSC8exosome component 8 | Soms (5–29%) | In 1 aandoening |
| FBXO28F-box protein 28 | Soms (5–29%) | In 1 aandoening |
| FGF12fibroblast growth factor 12 | Soms (5–29%) | In 1 aandoening |
| FXNfrataxin | Soms (5–29%) | In 1 aandoening |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Soms (5–29%) | In 2 aandoeningen |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Soms (5–29%) | In 2 aandoeningen |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Soms (5–29%) | In 1 aandoening |
| GCH1GTP cyclohydrolase 1 | Soms (5–29%) | In 1 aandoening |
| GFM1G elongation factor mitochondrial 1 | Soms (5–29%) | In 2 aandoeningen |
| GMPPAGDP-mannose pyrophosphorylase A | Soms (5–29%) | In 1 aandoening |
| GNAO1G protein subunit alpha o1 | Soms (5–29%) | In 2 aandoeningen |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Soms (5–29%) | In 1 aandoening |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Soms (5–29%) | In 1 aandoening |
| GRM1glutamate metabotropic receptor 1 | Soms (5–29%) | In 1 aandoening |
| GRM7glutamate metabotropic receptor 7 | Soms (5–29%) | In 1 aandoening |
| GTF2E2general transcription factor IIE subunit 2 | Soms (5–29%) | In 1 aandoening |
| GTF2H5general transcription factor IIH subunit 5 | Soms (5–29%) | In 1 aandoening |
| H3-3AH3.3 histone A | Soms (5–29%) | In 1 aandoening |
| H4C5H4 clustered histone 5 | Soms (5–29%) | In 1 aandoening |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Soms (5–29%) | In 1 aandoening |
| HTRA2HtrA serine peptidase 2 | Soms (5–29%) | In 1 aandoening |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Soms (5–29%) | In 1 aandoening |
| IFT172intraflagellar transport 172 | Soms (5–29%) | In 1 aandoening |
| IFT27intraflagellar transport 27 | Soms (5–29%) | In 1 aandoening |
| IFT56intraflagellar transport 56 | Soms (5–29%) | In 1 aandoening |
| IFT74intraflagellar transport 74 | Soms (5–29%) | In 1 aandoening |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Soms (5–29%) | In 2 aandoeningen |
| IRF2BPLinterferon regulatory factor 2 binding protein like | Soms (5–29%) | In 1 aandoening |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Soms (5–29%) | In 1 aandoening |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Soms (5–29%) | In 1 aandoening |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Soms (5–29%) | In 1 aandoening |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Soms (5–29%) | In 1 aandoening |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Soms (5–29%) | In 1 aandoening |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Soms (5–29%) | In 1 aandoening |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Soms (5–29%) | In 1 aandoening |
| KIF11kinesin family member 11 | Soms (5–29%) | In 1 aandoening |
| KMT2Blysine methyltransferase 2B | Soms (5–29%) | In 1 aandoening |
| LRRK2leucine rich repeat kinase 2 | Soms (5–29%) | In 1 aandoening |
| LZTFL1leucine zipper transcription factor like 1 | Soms (5–29%) | In 1 aandoening |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Soms (5–29%) | In 1 aandoening |
| MCCC2methylcrotonyl-CoA carboxylase subunit 2 | Soms (5–29%) | In 1 aandoening |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Soms (5–29%) | In 1 aandoening |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Soms (5–29%) | In 2 aandoeningen |
| MED25mediator complex subunit 25 | Soms (5–29%) | In 2 aandoeningen |
| MFN2mitofusin 2 | Soms (5–29%) | In 1 aandoening |
| MKKSMKKS centrosomal shuttling protein | Soms (5–29%) | In 1 aandoening |
| MKS1MKS transition zone complex subunit 1 | Soms (5–29%) | In 1 aandoening |
| MORC2MORC family CW-type zinc finger 2 | Soms (5–29%) | In 1 aandoening |
| MPLKIPM-phase specific PLK1 interacting protein | Soms (5–29%) | In 1 aandoening |
| MTO1mitochondrial tRNA translation optimization 1 | Soms (5–29%) | In 1 aandoening |
| MYO5Amyosin VA | Soms (5–29%) | In 1 aandoening |
| NACC1nucleus accumbens associated 1 | Soms (5–29%) | In 2 aandoeningen |
| NAXENAD(P)HX epimerase | Soms (5–29%) | In 1 aandoening |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Soms (5–29%) | In 1 aandoening |
| NECAP1NECAP endocytosis associated 1 | Soms (5–29%) | In 1 aandoening |
| NEU1neuraminidase 1 | Soms (5–29%) | In 2 aandoeningen |
| NEUROD2neuronal differentiation 2 | Soms (5–29%) | In 1 aandoening |
| NPHP1nephrocystin 1 | Soms (5–29%) | In 1 aandoening |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Soms (5–29%) | In 2 aandoeningen |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Soms (5–29%) | In 1 aandoening |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Soms (5–29%) | In 1 aandoening |
| ODC1ornithine decarboxylase 1 | Soms (5–29%) | In 1 aandoening |
| OPA1OPA1 mitochondrial dynamin like GTPase | Soms (5–29%) | In 2 aandoeningen |
| OTUD6BOTU deubiquitinase 6B | Soms (5–29%) | In 1 aandoening |
| PACS2phosphofurin acidic cluster sorting protein 2 | Soms (5–29%) | In 1 aandoening |
| PARK7Parkinsonism associated deglycase | Soms (5–29%) | In 1 aandoening |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Soms (5–29%) | In 2 aandoeningen |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Soms (5–29%) | In 1 aandoening |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Soms (5–29%) | In 1 aandoening |
| PINK1PTEN induced kinase 1 | Soms (5–29%) | In 1 aandoening |
| PMPCApeptidase, mitochondrial processing subunit alpha | Soms (5–29%) | In 2 aandoeningen |
| PNKPpolynucleotide kinase 3'-phosphatase | Soms (5–29%) | In 1 aandoening |
| PNPpurine nucleoside phosphorylase | Soms (5–29%) | In 1 aandoening |
| PODXLpodocalyxin like | Soms (5–29%) | In 1 aandoening |
| POLA1DNA polymerase alpha 1, catalytic subunit | Soms (5–29%) | In 1 aandoening |
| POU3F3POU class 3 homeobox 3 | Soms (5–29%) | In 1 aandoening |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Soms (5–29%) | In 2 aandoeningen |
| PRKNparkin RBR E3 ubiquitin protein ligase | Soms (5–29%) | In 1 aandoening |
| RAB3ARAB3A, member RAS oncogene family | Soms (5–29%) | In 1 aandoening |
| RHOBTB2Rho related BTB domain containing 2 | Soms (5–29%) | In 1 aandoening |
| RNF113Aring finger protein 113A | Soms (5–29%) | In 1 aandoening |
| RNU4-2RNA, U4 small nuclear 2 | Soms (5–29%) | In 1 aandoening |
| RTTNrotatin | Soms (5–29%) | In 2 aandoeningen |
| SATB1SATB homeobox 1 | Soms (5–29%) | In 2 aandoeningen |
| SCAPERS-phase cyclin A associated protein in the ER | Soms (5–29%) | In 1 aandoening |
| SCLT1sodium channel and clathrin linker 1 | Soms (5–29%) | In 1 aandoening |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Soms (5–29%) | In 1 aandoening |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Soms (5–29%) | In 2 aandoeningen |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Soms (5–29%) | In 1 aandoening |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Soms (5–29%) | In 1 aandoening |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Soms (5–29%) | In 1 aandoening |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Soms (5–29%) | In 1 aandoening |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Soms (5–29%) | In 1 aandoening |
| SETD5SET domain containing 5 | Soms (5–29%) | In 1 aandoening |
| SIK1salt inducible kinase 1 | Soms (5–29%) | In 1 aandoening |
| SLC1A2solute carrier family 1 member 2 | Soms (5–29%) | In 2 aandoeningen |
| SLC25A46solute carrier family 25 member 46 | Soms (5–29%) | In 1 aandoening |
| SLC32A1solute carrier family 32 member 1 | Soms (5–29%) | In 1 aandoening |
| SLC38A3solute carrier family 38 member 3 | Soms (5–29%) | In 1 aandoening |
| SLITRK2SLIT and NTRK like family member 2 | Soms (5–29%) | In 1 aandoening |
| SMPD1sphingomyelin phosphodiesterase 1 | Soms (5–29%) | In 2 aandoeningen |
| SNORD118small nucleolar RNA, C/D box 118 | Soms (5–29%) | In 2 aandoeningen |
| SNX14sorting nexin 14 | Soms (5–29%) | In 2 aandoeningen |
| SONSON DNA and RNA binding protein | Soms (5–29%) | In 2 aandoeningen |
| SPTBN2spectrin beta, non-erythrocytic 2 | Soms (5–29%) | In 2 aandoeningen |
| SRD5A3steroid 5 alpha-reductase 3 | Soms (5–29%) | In 1 aandoening |
| STUB1STIP1 homology and U-box containing protein 1 | Soms (5–29%) | In 1 aandoening |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Soms (5–29%) | In 1 aandoening |
| SYNJ1synaptojanin 1 | Soms (5–29%) | In 2 aandoeningen |
| SZT2SZT2 subunit of KICSTOR complex | Soms (5–29%) | In 1 aandoening |
| TARS1threonyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| THOC2THO complex subunit 2 | Soms (5–29%) | In 1 aandoening |
| TIMM50translocase of inner mitochondrial membrane 50 | Soms (5–29%) | In 2 aandoeningen |
| TP53RKTP53 regulating kinase | Soms (5–29%) | In 1 aandoening |
| TRAK1trafficking kinesin protein 1 | Soms (5–29%) | In 2 aandoeningen |
| TRIM32tripartite motif containing 32 | Soms (5–29%) | In 1 aandoening |
| TRIM8tripartite motif containing 8 | Soms (5–29%) | In 1 aandoening |
| TSEN15tRNA splicing endonuclease subunit 15 | Soms (5–29%) | In 1 aandoening |
| TSEN34tRNA splicing endonuclease subunit 34 | Soms (5–29%) | In 1 aandoening |
| TSEN54tRNA splicing endonuclease subunit 54 | Soms (5–29%) | In 2 aandoeningen |
| TTC8tetratricopeptide repeat domain 8 | Soms (5–29%) | In 1 aandoening |
| TUBGCP2tubulin gamma complex component 2 | Soms (5–29%) | In 1 aandoening |
| UCHL1ubiquitin C-terminal hydrolase L1 | Soms (5–29%) | In 1 aandoening |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Soms (5–29%) | In 1 aandoening |
| UFSP2UFM1 specific peptidase 2 | Soms (5–29%) | In 1 aandoening |
| VRK1VRK serine/threonine kinase 1 | Soms (5–29%) | In 1 aandoening |
| WASHC4WASH complex subunit 4 | Soms (5–29%) | In 1 aandoening |
| WDPCPWD repeat containing planar cell polarity effector | Soms (5–29%) | In 1 aandoening |
| WDR45BWD repeat domain 45B | Soms (5–29%) | In 1 aandoening |
| XPAXPA, DNA damage recognition and repair factor | Soms (5–29%) | In 2 aandoeningen |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Soms (5–29%) | In 1 aandoening |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Soms (5–29%) | In 1 aandoening |
| DNM1Ldynamin 1L | Zelden (1–4%) | In 1 aandoening |
| FDX2ferredoxin 2 | Zelden (1–4%) | In 1 aandoening |
| GRIA2glutamate ionotropic receptor AMPA type subunit 2 | Zelden (1–4%) | In 1 aandoening |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Zelden (1–4%) | In 2 aandoeningen |
| NEFLneurofilament light chain | Zelden (1–4%) | In 1 aandoening |
| PPIBpeptidylprolyl isomerase B | Zelden (1–4%) | In 1 aandoening |
| SETBP1SET binding protein 1 | Zelden (1–4%) | In 1 aandoening |
| SPTBN1spectrin beta, non-erythrocytic 1 | Zelden (1–4%) | In 1 aandoening |
| STXBP1syntaxin binding protein 1 | Zelden (1–4%) | In 1 aandoening |
| ABCC8ATP binding cassette subfamily C member 8 | Niet vastgelegd | In 1 aandoening |
| ADAM22ADAM metallopeptidase domain 22 | Niet vastgelegd | In 1 aandoening |
| ADSLadenylosuccinate lyase | Niet vastgelegd | In 1 aandoening |
| AGAaspartylglucosaminidase | Niet vastgelegd | In 1 aandoening |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Niet vastgelegd | In 1 aandoening |
| ATP13A2ATPase cation transporting 13A2 | Niet vastgelegd | In 1 aandoening |
| ATRXATRX chromatin remodeler | Niet vastgelegd | In 1 aandoening |
| ATXN1ataxin 1 | Niet vastgelegd | In 1 aandoening |
| ATXN7ataxin 7 | Niet vastgelegd | In 1 aandoening |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Niet vastgelegd | In 1 aandoening |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Niet vastgelegd | In 1 aandoening |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Niet vastgelegd | In 1 aandoening |
| CNTNAP1contactin associated protein 1 | Niet vastgelegd | In 1 aandoening |
| COL4A1collagen type IV alpha 1 chain | Niet vastgelegd | In 1 aandoening |
| CTC1CST telomere replication complex component 1 | Niet vastgelegd | In 1 aandoening |
| DCXdoublecortin | Niet vastgelegd | In 1 aandoening |
| DENND5ADENN domain containing 5A | Niet vastgelegd | In 1 aandoening |
| DYNC1I2dynein cytoplasmic 1 intermediate chain 2 | Niet vastgelegd | In 1 aandoening |
| ECHS1enoyl-CoA hydratase, short chain 1 | Niet vastgelegd | In 1 aandoening |
| EIF2B1eukaryotic translation initiation factor 2B subunit alpha | Niet vastgelegd | In 1 aandoening |
| EML1EMAP like 1 | Niet vastgelegd | In 1 aandoening |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Niet vastgelegd | In 1 aandoening |
| FTLferritin light chain | Niet vastgelegd | In 1 aandoening |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Niet vastgelegd | In 1 aandoening |
| GLRX5glutaredoxin 5 | Niet vastgelegd | In 1 aandoening |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Niet vastgelegd | In 2 aandoeningen |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Niet vastgelegd | In 1 aandoening |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Niet vastgelegd | In 1 aandoening |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Niet vastgelegd | In 1 aandoening |
| HTThuntingtin | Niet vastgelegd | In 1 aandoening |
| ITM2Bintegral membrane protein 2B | Niet vastgelegd | In 2 aandoeningen |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Niet vastgelegd | In 1 aandoening |
| MAN2B1mannosidase alpha class 2B member 1 | Niet vastgelegd | In 1 aandoening |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Niet vastgelegd | In 1 aandoening |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Niet vastgelegd | In 1 aandoening |
| MT-TImitochondrially encoded tRNA-Ile (AUU/C) | Niet vastgelegd | In 1 aandoening |
| MT-TPmitochondrially encoded tRNA-Pro (CCN) | Niet vastgelegd | In 1 aandoening |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Niet vastgelegd | In 1 aandoening |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Niet vastgelegd | In 1 aandoening |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Niet vastgelegd | In 1 aandoening |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Niet vastgelegd | In 1 aandoening |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Niet vastgelegd | In 1 aandoening |
| NPC1NPC intracellular cholesterol transporter 1 | Niet vastgelegd | In 1 aandoening |
| NPC2NPC intracellular cholesterol transporter 2 | Niet vastgelegd | In 1 aandoening |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Niet vastgelegd | In 1 aandoening |
| NUP214nucleoporin 214 | Niet vastgelegd | In 1 aandoening |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Niet vastgelegd | In 1 aandoening |
| OPHN1oligophrenin 1 | Niet vastgelegd | In 1 aandoening |
| OSGEPO-sialoglycoprotein endopeptidase | Niet vastgelegd | In 1 aandoening |
| PCLOpiccolo presynaptic cytomatrix protein | Niet vastgelegd | In 1 aandoening |
| PEX7peroxisomal biogenesis factor 7 | Niet vastgelegd | In 1 aandoening |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Niet vastgelegd | In 1 aandoening |
| PMPCBpeptidase, mitochondrial processing subunit beta | Niet vastgelegd | In 1 aandoening |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Niet vastgelegd | In 1 aandoening |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Niet vastgelegd | In 1 aandoening |
| PPT1palmitoyl-protein thioesterase 1 | Niet vastgelegd | In 1 aandoening |
| PRDM8PR/SET domain 8 | Niet vastgelegd | In 1 aandoening |
| PRNPprion protein (Kanno blood group) | Niet vastgelegd | In 1 aandoening |
| RAB27ARAB27A, member RAS oncogene family | Niet vastgelegd | In 1 aandoening |
| RFT1RFT1 glycolipid translocator homolog | Niet vastgelegd | In 1 aandoening |
| RLIMring finger protein, LIM domain interacting | Niet vastgelegd | In 1 aandoening |
| RPIAribose 5-phosphate isomerase A | Niet vastgelegd | In 1 aandoening |
| SLC12A2solute carrier family 12 member 2 | Niet vastgelegd | In 1 aandoening |
| SLC17A5solute carrier family 17 member 5 | Niet vastgelegd | In 1 aandoening |
| SLC25A15solute carrier family 25 member 15 | Niet vastgelegd | In 1 aandoening |
| SLC6A8solute carrier family 6 member 8 | Niet vastgelegd | In 1 aandoening |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Niet vastgelegd | In 1 aandoening |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Niet vastgelegd | In 1 aandoening |
| SUMF1sulfatase modifying factor 1 | Niet vastgelegd | In 1 aandoening |
| TCF20transcription factor 20 | Niet vastgelegd | In 1 aandoening |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Niet vastgelegd | In 1 aandoening |
| TMEM67transmembrane protein 67 | Niet vastgelegd | In 1 aandoening |
| TPI1triosephosphate isomerase 1 | Niet vastgelegd | In 1 aandoening |
| TTRtransthyretin | Niet vastgelegd | In 1 aandoening |
| TUFMTu translation elongation factor, mitochondrial | Niet vastgelegd | In 1 aandoening |
| TXN2thioredoxin 2 | Niet vastgelegd | In 1 aandoening |
| UFM1ubiquitin fold modifier 1 | Niet vastgelegd | In 1 aandoening |
| UNC80unc-80 subunit of NALCN channel complex | Niet vastgelegd | In 1 aandoening |
| ZC4H2zinc finger C4H2-type containing | Niet vastgelegd | In 2 aandoeningen |
| ZNF335zinc finger protein 335 | Niet vastgelegd | In 1 aandoening |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
Smallere kenmerken
Bredere kenmerken
Waar dit vandaan komt
- De Human Phenotype Ontology, release 2026-09-01: het kenmerk, de namen, de definitie en de genen die ermee verbonden zijn. Meer informatie vindt u op hpo.jax.org.
- Gegevensrelease 2026.10.16-c6eea6bf.
Eén test. Een leven lang antwoorden.
Vanaf $ 449Gratis verzending · Resultaten binnen 6–8 weken