Kenmerk
Increased reflexes
Klinische naam: Hyperreflexia
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
Samenvatting
- Ook bekend als
- Increased deep tendon reflexes
- Lichaamssysteem
- Abnormality of the nervous system
ReferentiegenoomGRCh38hg38
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Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Increased reflexes 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 |
|---|---|---|
| ABAT4-aminobutyrate aminotransferase | Altijd | In 2 aandoeningen |
| ABCB1ATP binding cassette subfamily B member 1 | Altijd | In 1 aandoening |
| ABCB7ATP binding cassette subfamily B member 7 | Altijd | In 2 aandoeningen |
| ABHD16Aabhydrolase domain containing 16A, phospholipase | Altijd | In 1 aandoening |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Altijd | In 1 aandoening |
| AIMP2aminoacyl tRNA synthetase complex interacting multifunctional protein 2 | Altijd | In 1 aandoening |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Altijd | In 3 aandoeningen |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Altijd | In 5 aandoeningen |
| AMACRalpha-methylacyl-CoA racemase | Altijd | In 1 aandoening |
| AMPD2adenosine monophosphate deaminase 2 | Altijd | In 3 aandoeningen |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Altijd | In 2 aandoeningen |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Altijd | In 2 aandoeningen |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Altijd | In 2 aandoeningen |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Altijd | In 2 aandoeningen |
| ATP13A2ATPase cation transporting 13A2 | Altijd | In 3 aandoeningen |
| ATXN7ataxin 7 | Altijd | In 2 aandoeningen |
| ATXN7L3ataxin 7 like 3 | Altijd | In 1 aandoening |
| BCAS3BCAS3 microtubule associated cell migration factor | Altijd | In 1 aandoening |
| BRAT1BRCA1 associated ATM activator 1 | Altijd | In 2 aandoeningen |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Altijd | In 5 aandoeningen |
| CAMSAP1calmodulin regulated spectrin associated protein 1 | Altijd | In 1 aandoening |
| CASP2caspase 2 | Altijd | In 1 aandoening |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Altijd | In 1 aandoening |
| CCT5chaperonin containing TCP1 subunit 5 | Altijd | In 2 aandoeningen |
| CHKAcholine kinase alpha | Altijd | In 1 aandoening |
| CHP1calcineurin like EF-hand protein 1 | Altijd | In 1 aandoening |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Altijd | In 2 aandoeningen |
| COG4component of oligomeric golgi complex 4 | Altijd | In 2 aandoeningen |
| CPT1Ccarnitine palmitoyltransferase 1C | Altijd | In 2 aandoeningen |
| CRATcarnitine O-acetyltransferase | Altijd | In 1 aandoening |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Altijd | In 1 aandoening |
| CWF19L1CWF19 like cell cycle control factor 1 | Altijd | In 1 aandoening |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Altijd | In 1 aandoening |
| DDHD1DDHD domain containing 1 | Altijd | In 2 aandoeningen |
| DDHD2DDHD domain containing 2 | Altijd | In 1 aandoening |
| DNM1dynamin 1 | Altijd | In 1 aandoening |
| DNM1Ldynamin 1L | Altijd | In 1 aandoening |
| DSTYKdual serine/threonine and tyrosine protein kinase | Altijd | In 2 aandoeningen |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Altijd | In 1 aandoening |
| ELP2elongator acetyltransferase complex subunit 2 | Altijd | In 1 aandoening |
Toon nog 595 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Altijd | In 1 aandoening |
| ERLIN1ER lipid raft associated 1 | Altijd | In 2 aandoeningen |
| ESAMendothelial cell adhesion molecule | Altijd | In 1 aandoening |
| EXOC8exocyst complex component 8 | Altijd | In 1 aandoening |
| EXOSC5exosome component 5 | Altijd | In 1 aandoening |
| EXTL3exostosin like glycosyltransferase 3 | Altijd | In 2 aandoeningen |
| FBXL4F-box and leucine rich repeat protein 4 | Altijd | In 1 aandoening |
| FBXO7F-box protein 7 | Altijd | In 2 aandoeningen |
| FEM1Bfem-1 homolog B | Altijd | In 1 aandoening |
| FZR1fizzy and cell division cycle 20 related 1 | Altijd | In 1 aandoening |
| GBA2glucosylceramidase beta 2 | Altijd | In 2 aandoeningen |
| GCH1GTP cyclohydrolase 1 | Altijd | In 1 aandoening |
| GCSHglycine cleavage system protein H | Altijd | In 1 aandoening |
| GDAP2ganglioside induced differentiation associated protein 2 | Altijd | In 1 aandoening |
| GGT1gamma-glutamyltransferase 1 | Altijd | In 2 aandoeningen |
| GJC2gap junction protein gamma 2 | Altijd | In 1 aandoening |
| GLRBglycine receptor beta | Altijd | In 2 aandoeningen |
| GPHNgephyrin | Altijd | In 2 aandoeningen |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Altijd | In 1 aandoening |
| GRID2glutamate ionotropic receptor delta type subunit 2 | Altijd | In 1 aandoening |
| GTPBP1GTP binding protein 1 | Altijd | In 1 aandoening |
| HEXBhexosaminidase subunit beta | Altijd | In 2 aandoeningen |
| HSPD1heat shock protein family D (Hsp60) member 1 | Altijd | In 3 aandoeningen |
| HYCC1hyccin PI4KA lipid kinase complex subunit 1 | Altijd | In 1 aandoening |
| IREB2iron responsive element binding protein 2 | Altijd | In 1 aandoening |
| ISCA1iron-sulfur cluster assembly 1 | Altijd | In 2 aandoeningen |
| KATNB1katanin regulatory subunit B1 | Altijd | In 1 aandoening |
| MAGmyelin associated glycoprotein | Altijd | In 1 aandoening |
| MARS1methionyl-tRNA synthetase 1 | Altijd | In 1 aandoening |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Altijd | In 2 aandoeningen |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Altijd | In 1 aandoening |
| MED17mediator complex subunit 17 | Altijd | In 1 aandoening |
| MFFmitochondrial fission factor | Altijd | In 2 aandoeningen |
| MFSD2AMFSD2 lysolipid transporter A, lysophospholipid | Altijd | In 2 aandoeningen |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Altijd | In 1 aandoening |
| MOCS3molybdenum cofactor synthesis 3 | Altijd | In 1 aandoening |
| MTRFRmitochondrial translation release factor in rescue | Altijd | In 2 aandoeningen |
| NDC1NDC1 transmembrane nucleoporin | Altijd | In 1 aandoening |
| NDE1nudE neurodevelopment protein 1 | Altijd | In 2 aandoeningen |
| NEK1NIMA related kinase 1 | Altijd | In 2 aandoeningen |
| NKX6-2NK6 homeobox 2 | Altijd | In 2 aandoeningen |
| NOP56NOP56 ribonucleoprotein | Altijd | In 2 aandoeningen |
| NT5C25'-nucleotidase, cytosolic II | Altijd | In 2 aandoeningen |
| PCLOpiccolo presynaptic cytomatrix protein | Altijd | In 1 aandoening |
| PCYT2phosphate cytidylyltransferase 2, ethanolamine | Altijd | In 1 aandoening |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Altijd | In 1 aandoening |
| PEX3peroxisomal biogenesis factor 3 | Altijd | In 2 aandoeningen |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Altijd | In 2 aandoeningen |
| PI4KAphosphatidylinositol 4-kinase alpha | Altijd | In 2 aandoeningen |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Altijd | In 2 aandoeningen |
| POLR1ARNA polymerase I subunit A | Altijd | In 1 aandoening |
| PRKNparkin RBR E3 ubiquitin protein ligase | Altijd | In 2 aandoeningen |
| PSAPprosaposin | Altijd | In 3 aandoeningen |
| RNF220ring finger protein 220 | Altijd | In 1 aandoening |
| RTN2reticulon 2 | Altijd | In 3 aandoeningen |
| SAMD9Lsterile alpha motif domain containing 9 like | Altijd | In 2 aandoeningen |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Altijd | In 1 aandoening |
| SEC31ASEC31 homolog A, COPII component | Altijd | In 1 aandoening |
| SELENOIselenoprotein I | Altijd | In 1 aandoening |
| SIGMAR1sigma receptor chaperone 1 | Altijd | In 1 aandoening |
| SLC12A2solute carrier family 12 member 2 | Altijd | In 1 aandoening |
| SLC18A2solute carrier family 18 member A2 | Altijd | In 1 aandoening |
| SLC31A1solute carrier family 31 member 1 | Altijd | In 1 aandoening |
| SOD1superoxide dismutase 1 | Altijd | In 3 aandoeningen |
| SPARTspartin | Altijd | In 2 aandoeningen |
| SPG21SPG21 abhydrolase domain containing, maspardin | Altijd | In 2 aandoeningen |
| SPTBN2spectrin beta, non-erythrocytic 2 | Altijd | In 3 aandoeningen |
| TCTN2tectonic family member 2 | Altijd | In 1 aandoening |
| TFGtrafficking from ER to golgi regulator | Altijd | In 1 aandoening |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Altijd | In 1 aandoening |
| TMEM63Ctransmembrane protein 63C | Altijd | In 1 aandoening |
| TMX2thioredoxin related transmembrane protein 2 | Altijd | In 1 aandoening |
| TNRtenascin R | Altijd | In 1 aandoening |
| TOR1Atorsin family 1 member A | Altijd | In 1 aandoening |
| TRAPPC6Btrafficking protein particle complex subunit 6B | Altijd | In 1 aandoening |
| TTBK2tau tubulin kinase 2 | Altijd | In 1 aandoening |
| UCHL1ubiquitin C-terminal hydrolase L1 | Altijd | In 2 aandoeningen |
| UQCRQubiquinol-cytochrome c reductase complex III subunit VII | Altijd | In 1 aandoening |
| VPS37AVPS37A subunit of ESCRT-I | Altijd | In 1 aandoening |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Altijd | In 2 aandoeningen |
| ZIC2Zic family zinc finger 2 | Altijd | In 1 aandoening |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Heel vaak (80–99%) | In 1 aandoening |
| ACOX1acyl-CoA oxidase 1 | Heel vaak (80–99%) | In 1 aandoening |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Heel vaak (80–99%) | In 1 aandoening |
| ATAD1ATPase family AAA domain containing 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| ATP8A2ATPase phospholipid transporting 8A2 | Heel vaak (80–99%) | In 1 aandoening |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Heel vaak (80–99%) | In 1 aandoening |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Heel vaak (80–99%) | In 1 aandoening |
| CA8carbonic anhydrase 8 (inactive) | Heel vaak (80–99%) | In 1 aandoening |
| CLIP2CAP-Gly domain containing linker protein 2 | Heel vaak (80–99%) | In 1 aandoening |
| CLTRNcollectrin, amino acid transport regulator | Heel vaak (80–99%) | In 1 aandoening |
| CTNNA2catenin alpha 2 | Heel vaak (80–99%) | In 1 aandoening |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Heel vaak (80–99%) | In 1 aandoening |
| EIF4Heukaryotic translation initiation factor 4H | Heel vaak (80–99%) | In 1 aandoening |
| ELNelastin | Heel vaak (80–99%) | In 2 aandoeningen |
| ERLIN2ER lipid raft associated 2 | Heel vaak (80–99%) | In 3 aandoeningen |
| FA2Hfatty acid 2-hydroxylase | Heel vaak (80–99%) | In 2 aandoeningen |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Heel vaak (80–99%) | In 1 aandoening |
| GLRA1glycine receptor alpha 1 | Heel vaak (80–99%) | In 1 aandoening |
| GM2Aganglioside GM2 activator | Heel vaak (80–99%) | In 2 aandoeningen |
| GPT2glutamic--pyruvic transaminase 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| GRM1glutamate metabotropic receptor 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| GTF2Igeneral transcription factor IIi | Heel vaak (80–99%) | In 1 aandoening |
| GTF2IRD1GTF2I repeat domain containing 1 | Heel vaak (80–99%) | In 1 aandoening |
| GTF2IRD2GTF2I repeat domain containing 2 | Heel vaak (80–99%) | In 1 aandoening |
| HRASHRas proto-oncogene, GTPase | Heel vaak (80–99%) | In 2 aandoeningen |
| HTThuntingtin | Heel vaak (80–99%) | In 4 aandoeningen |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Heel vaak (80–99%) | In 3 aandoeningen |
| KCNJ6potassium inwardly rectifying channel subfamily J member 6 | Heel vaak (80–99%) | In 2 aandoeningen |
| KIF1Ckinesin family member 1C | Heel vaak (80–99%) | In 2 aandoeningen |
| KRASKRas proto-oncogene, GTPase | Heel vaak (80–99%) | In 1 aandoening |
| L1CAML1 cell adhesion molecule | Heel vaak (80–99%) | In 1 aandoening |
| LGI1leucine rich glioma inactivated 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| LIMK1LIM domain kinase 1 | Heel vaak (80–99%) | In 1 aandoening |
| MCOLN1mucolipin TRP cation channel 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| METTL27methyltransferase like 27 | Heel vaak (80–99%) | In 1 aandoening |
| MTPAPmitochondrial poly(A) polymerase | Heel vaak (80–99%) | In 1 aandoening |
| NCF1neutrophil cytosolic factor 1 | Heel vaak (80–99%) | In 1 aandoening |
| NOTCH3notch receptor 3 | Heel vaak (80–99%) | In 1 aandoening |
| NRASNRAS proto-oncogene, GTPase | Heel vaak (80–99%) | In 1 aandoening |
| OCLNoccludin | Heel vaak (80–99%) | In 2 aandoeningen |
| PDYNprodynorphin | Heel vaak (80–99%) | In 2 aandoeningen |
| PEX1peroxisomal biogenesis factor 1 | Heel vaak (80–99%) | In 1 aandoening |
| PEX10peroxisomal biogenesis factor 10 | Heel vaak (80–99%) | In 2 aandoeningen |
| PEX11Bperoxisomal biogenesis factor 11 beta | Heel vaak (80–99%) | In 1 aandoening |
| PEX12peroxisomal biogenesis factor 12 | Heel vaak (80–99%) | In 1 aandoening |
| PEX13peroxisomal biogenesis factor 13 | Heel vaak (80–99%) | In 1 aandoening |
| PEX14peroxisomal biogenesis factor 14 | Heel vaak (80–99%) | In 1 aandoening |
| PEX16peroxisomal biogenesis factor 16 | Heel vaak (80–99%) | In 1 aandoening |
| PEX19peroxisomal biogenesis factor 19 | Heel vaak (80–99%) | In 1 aandoening |
| PEX2peroxisomal biogenesis factor 2 | Heel vaak (80–99%) | In 1 aandoening |
| PEX26peroxisomal biogenesis factor 26 | Heel vaak (80–99%) | In 1 aandoening |
| PEX5peroxisomal biogenesis factor 5 | Heel vaak (80–99%) | In 1 aandoening |
| PEX6peroxisomal biogenesis factor 6 | Heel vaak (80–99%) | In 1 aandoening |
| PLP1proteolipid protein 1 | Heel vaak (80–99%) | In 3 aandoeningen |
| PRUNE1prune exopolyphosphatase 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| PTRHD1peptidyl-tRNA hydrolase domain containing 1 | Heel vaak (80–99%) | In 1 aandoening |
| RFC2replication factor C subunit 2 | Heel vaak (80–99%) | In 1 aandoening |
| SLC1A4solute carrier family 1 member 4 | Heel vaak (80–99%) | In 2 aandoeningen |
| SLC25A15solute carrier family 25 member 15 | Heel vaak (80–99%) | In 2 aandoeningen |
| SLC2A3solute carrier family 2 member 3 | Heel vaak (80–99%) | In 1 aandoening |
| SLC33A1solute carrier family 33 member 1 | Heel vaak (80–99%) | In 1 aandoening |
| SLC6A19solute carrier family 6 member 19 | Heel vaak (80–99%) | In 2 aandoeningen |
| SLC6A5solute carrier family 6 member 5 | Heel vaak (80–99%) | In 1 aandoening |
| SNAPC4small nuclear RNA activating complex polypeptide 4 | Heel vaak (80–99%) | In 1 aandoening |
| STX1Asyntaxin 1A | Heel vaak (80–99%) | In 1 aandoening |
| TBL2transducin beta like 2 | Heel vaak (80–99%) | In 1 aandoening |
| TGM6transglutaminase 6 | Heel vaak (80–99%) | In 2 aandoeningen |
| TMEM270transmembrane protein 270 | Heel vaak (80–99%) | In 1 aandoening |
| TOE1target of EGR1, exonuclease | Heel vaak (80–99%) | In 2 aandoeningen |
| TUBB2Btubulin beta 2B class IIb | Heel vaak (80–99%) | In 1 aandoening |
| UBAP1ubiquitin associated protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| VAMP1vesicle associated membrane protein 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| VLDLRvery low density lipoprotein receptor | Heel vaak (80–99%) | In 2 aandoeningen |
| VPS37DVPS37D subunit of ESCRT-I | Heel vaak (80–99%) | In 1 aandoening |
| WASHC5WASH complex subunit 5 | Heel vaak (80–99%) | In 2 aandoeningen |
| WDR81WD repeat domain 81 | Heel vaak (80–99%) | In 1 aandoening |
| ZNHIT3zinc finger HIT-type containing 3 | Heel vaak (80–99%) | In 2 aandoeningen |
| ABCD1ATP binding cassette subfamily D member 1 | Vaak (30–79%) | In 1 aandoening |
| ACSL4acyl-CoA synthetase long chain family member 4 | Vaak (30–79%) | In 1 aandoening |
| ADARadenosine deaminase RNA specific | Vaak (30–79%) | In 1 aandoening |
| ADCY5adenylate cyclase 5 | Vaak (30–79%) | In 2 aandoeningen |
| ADGRG1adhesion G protein-coupled receptor G1 | Vaak (30–79%) | In 2 aandoeningen |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Vaak (30–79%) | In 1 aandoening |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Vaak (30–79%) | In 1 aandoening |
| ANGangiogenin | Vaak (30–79%) | In 1 aandoening |
| ANKLE2ankyrin repeat and LEM domain containing 2 | Vaak (30–79%) | In 1 aandoening |
| ANO10anoctamin 10 | Vaak (30–79%) | In 1 aandoening |
| ANXA11annexin A11 | Vaak (30–79%) | In 1 aandoening |
| AP5Z1adaptor related protein complex 5 subunit zeta 1 | Vaak (30–79%) | In 1 aandoening |
| ARXaristaless related homeobox | Vaak (30–79%) | In 3 aandoeningen |
| ASPAaspartoacylase | Vaak (30–79%) | In 2 aandoeningen |
| ASPMassembly factor for spindle microtubules | Vaak (30–79%) | In 1 aandoening |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Vaak (30–79%) | In 1 aandoening |
| ATXN2ataxin 2 | Vaak (30–79%) | In 1 aandoening |
| ATXN3ataxin 3 | Vaak (30–79%) | In 3 aandoeningen |
| ATXN8ataxin 8 | Vaak (30–79%) | In 1 aandoening |
| ATXN8OSATXN8 opposite strand lncRNA | Vaak (30–79%) | In 1 aandoening |
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Vaak (30–79%) | In 2 aandoeningen |
| BCKDKbranched chain keto acid dehydrogenase kinase | Vaak (30–79%) | In 1 aandoening |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Vaak (30–79%) | In 3 aandoeningen |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Vaak (30–79%) | In 2 aandoeningen |
| CASKcalcium/calmodulin dependent serine protein kinase | Vaak (30–79%) | In 2 aandoeningen |
| CC2D2Acoiled-coil and C2 domain containing 2A | Vaak (30–79%) | In 1 aandoening |
| CCDC47coiled-coil domain containing 47 | Vaak (30–79%) | In 1 aandoening |
| CCDC88Ccoiled-coil and HOOK domain protein 88C | Vaak (30–79%) | In 2 aandoeningen |
| CCNFcyclin F | Vaak (30–79%) | In 1 aandoening |
| CDK5RAP2CDK5 regulatory subunit associated protein 2 | Vaak (30–79%) | In 1 aandoening |
| CDK6cyclin dependent kinase 6 | Vaak (30–79%) | In 1 aandoening |
| CDKL5cyclin dependent kinase like 5 | Vaak (30–79%) | In 1 aandoening |
| CENPEcentromere protein E | Vaak (30–79%) | In 1 aandoening |
| CEP135centrosomal protein 135 | Vaak (30–79%) | In 1 aandoening |
| CEP152centrosomal protein 152 | Vaak (30–79%) | In 1 aandoening |
| 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 |
| CHCHD2coiled-coil-helix-coiled-coil-helix domain containing 2 | Vaak (30–79%) | In 1 aandoening |
| CHMP1Acharged multivesicular body protein 1A | Vaak (30–79%) | In 1 aandoening |
| CHMP2Bcharged multivesicular body protein 2B | Vaak (30–79%) | In 3 aandoeningen |
| CITcitron rho-interacting serine/threonine kinase | Vaak (30–79%) | In 2 aandoeningen |
| CLPBClpB family mitochondrial disaggregase | Vaak (30–79%) | In 2 aandoeningen |
| COPB2coat protein complex I subunit beta 2 | Vaak (30–79%) | In 1 aandoening |
| COQ7coenzyme Q7, hydroxylase | Vaak (30–79%) | In 1 aandoening |
| CPAPcentrosome assembly and centriole elongation protein | Vaak (30–79%) | In 1 aandoening |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Vaak (30–79%) | In 1 aandoening |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Vaak (30–79%) | In 1 aandoening |
| DAOD-amino acid oxidase | Vaak (30–79%) | In 1 aandoening |
| DBR1debranching RNA lariats 1 | Vaak (30–79%) | In 1 aandoening |
| DCTN1dynactin subunit 1 | Vaak (30–79%) | In 2 aandoeningen |
| DDCdopa decarboxylase | Vaak (30–79%) | In 1 aandoening |
| DMXL2Dmx like 2 | Vaak (30–79%) | In 1 aandoening |
| DTYMKdeoxythymidylate kinase | Vaak (30–79%) | In 1 aandoening |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Vaak (30–79%) | In 2 aandoeningen |
| EMILIN1elastin microfibril interfacer 1 | Vaak (30–79%) | In 1 aandoening |
| ERBB4erb-b2 receptor tyrosine kinase 4 | Vaak (30–79%) | In 1 aandoening |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Vaak (30–79%) | In 2 aandoeningen |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Vaak (30–79%) | In 3 aandoeningen |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Vaak (30–79%) | In 2 aandoeningen |
| FAM177A1family with sequence similarity 177 member A1 | Vaak (30–79%) | In 1 aandoening |
| FIG4FIG4 phosphoinositide 5-phosphatase | Vaak (30–79%) | In 1 aandoening |
| FRMPD4FERM and PDZ domain containing 4 | Vaak (30–79%) | In 1 aandoening |
| FTH1ferritin heavy chain 1 | Vaak (30–79%) | In 1 aandoening |
| FUSFUS RNA binding protein | Vaak (30–79%) | In 1 aandoening |
| GFAPglial fibrillary acidic protein | Vaak (30–79%) | In 2 aandoeningen |
| GJA1gap junction protein alpha 1 | Vaak (30–79%) | In 1 aandoening |
| GJB1gap junction protein beta 1 | Vaak (30–79%) | In 1 aandoening |
| GLE1GLE1 RNA export mediator | Vaak (30–79%) | In 1 aandoening |
| GLRX5glutaredoxin 5 | Vaak (30–79%) | In 2 aandoeningen |
| GLT8D1glycosyltransferase 8 domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| GNAO1G protein subunit alpha o1 | Vaak (30–79%) | In 1 aandoening |
| GNAQG protein subunit alpha q | Vaak (30–79%) | In 1 aandoening |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Vaak (30–79%) | In 2 aandoeningen |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Vaak (30–79%) | In 2 aandoeningen |
| GRM7glutamate metabotropic receptor 7 | Vaak (30–79%) | In 2 aandoeningen |
| GTPBP2GTP binding protein 2 | Vaak (30–79%) | In 1 aandoening |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Vaak (30–79%) | In 1 aandoening |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Vaak (30–79%) | In 1 aandoening |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Vaak (30–79%) | In 1 aandoening |
| INPP5Einositol polyphosphate-5-phosphatase E | Vaak (30–79%) | In 1 aandoening |
| KARS1lysyl-tRNA synthetase 1 | Vaak (30–79%) | In 1 aandoening |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Vaak (30–79%) | In 2 aandoeningen |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Vaak (30–79%) | In 2 aandoeningen |
| KCND3potassium voltage-gated channel subfamily D member 3 | Vaak (30–79%) | In 2 aandoeningen |
| KCNK4potassium two pore domain channel subfamily K member 4 | Vaak (30–79%) | In 1 aandoening |
| KDM5Clysine demethylase 5C | Vaak (30–79%) | In 2 aandoeningen |
| KIDINS220kinase D interacting substrate 220 | Vaak (30–79%) | In 1 aandoening |
| KIF14kinesin family member 14 | Vaak (30–79%) | In 1 aandoening |
| KNL1kinetochore scaffold 1 | Vaak (30–79%) | In 1 aandoening |
| KPNA3karyopherin subunit alpha 3 | 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 |
| MATR3matrin 3 | Vaak (30–79%) | In 3 aandoeningen |
| MCM7minichromosome maintenance complex component 7 | Vaak (30–79%) | In 1 aandoening |
| MCPH1microcephalin 1 | Vaak (30–79%) | In 1 aandoening |
| METTL5methyltransferase 5, N6-adenosine | Vaak (30–79%) | In 1 aandoening |
| MLXIPLMLX interacting protein like | Vaak (30–79%) | In 1 aandoening |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Vaak (30–79%) | In 3 aandoeningen |
| NARS1asparaginyl-tRNA synthetase 1 | Vaak (30–79%) | In 2 aandoeningen |
| NCAPD3non-SMC condensin II complex subunit D3 | Vaak (30–79%) | In 1 aandoening |
| NEFHneurofilament heavy chain | Vaak (30–79%) | In 2 aandoeningen |
| NEUROD2neuronal differentiation 2 | Vaak (30–79%) | In 1 aandoening |
| NOTCH2NLCnotch 2 N-terminal like C | Vaak (30–79%) | In 1 aandoening |
| NSRP1nuclear speckle splicing regulatory protein 1 | Vaak (30–79%) | In 1 aandoening |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Vaak (30–79%) | In 1 aandoening |
| NUP214nucleoporin 214 | Vaak (30–79%) | In 1 aandoening |
| NUP37nucleoporin 37 | Vaak (30–79%) | In 1 aandoening |
| NUP54nucleoporin 54 | Vaak (30–79%) | In 1 aandoening |
| NUP62nucleoporin 62 | Vaak (30–79%) | In 1 aandoening |
| OPTNoptineurin | Vaak (30–79%) | In 1 aandoening |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Vaak (30–79%) | In 1 aandoening |
| PANK2pantothenate kinase 2 | Vaak (30–79%) | In 3 aandoeningen |
| PDCD6IPprogrammed cell death 6 interacting protein | Vaak (30–79%) | In 1 aandoening |
| PFN1profilin 1 | Vaak (30–79%) | In 1 aandoening |
| PGBD5piggyBac transposable element derived 5 | Vaak (30–79%) | In 1 aandoening |
| PHC1polyhomeotic homolog 1 | Vaak (30–79%) | In 1 aandoening |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Vaak (30–79%) | In 2 aandoeningen |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Vaak (30–79%) | In 2 aandoeningen |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Vaak (30–79%) | In 1 aandoening |
| PLA2G6phospholipase A2 group VI | Vaak (30–79%) | In 4 aandoeningen |
| PMM2phosphomannomutase 2 | Vaak (30–79%) | In 1 aandoening |
| PMPCApeptidase, mitochondrial processing subunit alpha | Vaak (30–79%) | In 1 aandoening |
| PNKPpolynucleotide kinase 3'-phosphatase | Vaak (30–79%) | In 1 aandoening |
| PNPLA6patatin like domain 6, lysophospholipase | Vaak (30–79%) | In 2 aandoeningen |
| POLR3ARNA polymerase III subunit A | Vaak (30–79%) | In 2 aandoeningen |
| POLR3BRNA polymerase III subunit B | Vaak (30–79%) | In 3 aandoeningen |
| POU3F4POU class 3 homeobox 4 | Vaak (30–79%) | In 1 aandoening |
| PPP2R2Bprotein phosphatase 2 regulatory subunit Bbeta | Vaak (30–79%) | In 2 aandoeningen |
| PRDM13PR/SET domain 13 | Vaak (30–79%) | In 1 aandoening |
| PRDM8PR/SET domain 8 | Vaak (30–79%) | In 2 aandoeningen |
| PRKRAprotein activator of interferon induced protein kinase EIF2AK2 | Vaak (30–79%) | In 2 aandoeningen |
| PRPHperipherin | Vaak (30–79%) | In 2 aandoeningen |
| PSAT1phosphoserine aminotransferase 1 | Vaak (30–79%) | In 1 aandoening |
| PYCR2pyrroline-5-carboxylate reductase 2 | Vaak (30–79%) | In 3 aandoeningen |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Vaak (30–79%) | In 2 aandoeningen |
| RARS1arginyl-tRNA synthetase 1 | Vaak (30–79%) | In 2 aandoeningen |
| RBSNrabenosyn, RAB effector | Vaak (30–79%) | In 1 aandoening |
| RHOBTB2Rho related BTB domain containing 2 | Vaak (30–79%) | In 2 aandoeningen |
| RNF2ring finger protein 2 | Vaak (30–79%) | In 1 aandoening |
| RPGRIP1LRPGRIP1 like | Vaak (30–79%) | In 1 aandoening |
| RPS6KC1ribosomal protein S6 kinase C1 | Vaak (30–79%) | In 1 aandoening |
| RUSC2RUN and SH3 domain containing 2 | Vaak (30–79%) | In 1 aandoening |
| SARS1seryl-tRNA synthetase 1 | Vaak (30–79%) | In 1 aandoening |
| SASS6SAS-6 centriolar assembly protein | Vaak (30–79%) | In 1 aandoening |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Vaak (30–79%) | In 1 aandoening |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Vaak (30–79%) | In 2 aandoeningen |
| SCYL1SCY1 like pseudokinase 1 | Vaak (30–79%) | In 2 aandoeningen |
| SEMA6Bsemaphorin 6B | Vaak (30–79%) | In 1 aandoening |
| SIK1salt inducible kinase 1 | Vaak (30–79%) | In 1 aandoening |
| SLC16A2solute carrier family 16 member 2 | Vaak (30–79%) | In 2 aandoeningen |
| SLC19A3solute carrier family 19 member 3 | Vaak (30–79%) | In 1 aandoening |
| SLC25A22solute carrier family 25 member 22 | Vaak (30–79%) | In 1 aandoening |
| SLC2A1solute carrier family 2 member 1 | Vaak (30–79%) | In 5 aandoeningen |
| SLC32A1solute carrier family 32 member 1 | Vaak (30–79%) | In 1 aandoening |
| SLC38A3solute carrier family 38 member 3 | Vaak (30–79%) | In 1 aandoening |
| SLC39A14solute carrier family 39 member 14 | Vaak (30–79%) | In 2 aandoeningen |
| SLC4A10solute carrier family 4 member 10 | Vaak (30–79%) | In 1 aandoening |
| SLC9A6solute carrier family 9 member A6 | Vaak (30–79%) | In 1 aandoening |
| SNCAsynuclein alpha | Vaak (30–79%) | In 2 aandoeningen |
| SPRsepiapterin reductase | Vaak (30–79%) | In 1 aandoening |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Vaak (30–79%) | In 1 aandoening |
| SQSTM1sequestosome 1 | Vaak (30–79%) | In 4 aandoeningen |
| SRPX2sushi repeat containing protein X-linked 2 | Vaak (30–79%) | In 1 aandoening |
| STILSTIL centriolar assembly protein | Vaak (30–79%) | In 1 aandoening |
| STUB1STIP1 homology and U-box containing protein 1 | Vaak (30–79%) | In 3 aandoeningen |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Vaak (30–79%) | In 1 aandoening |
| TAF13TATA-box binding protein associated factor 13 | 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 1 aandoening |
| TBK1TANK binding kinase 1 | Vaak (30–79%) | In 3 aandoeningen |
| TMEM67transmembrane protein 67 | Vaak (30–79%) | In 2 aandoeningen |
| TPP1tripeptidyl peptidase 1 | Vaak (30–79%) | In 2 aandoeningen |
| TRAPPC10trafficking protein particle complex subunit 10 | Vaak (30–79%) | In 1 aandoening |
| TRAPPC14trafficking protein particle complex subunit 14 | Vaak (30–79%) | In 1 aandoening |
| TREM2triggering receptor expressed on myeloid cells 2 | Vaak (30–79%) | In 2 aandoeningen |
| TRIM8tripartite motif containing 8 | Vaak (30–79%) | In 1 aandoening |
| TRIOtrio Rho guanine nucleotide exchange factor | Vaak (30–79%) | In 1 aandoening |
| TRMT5tRNA methyltransferase 5 | Vaak (30–79%) | In 1 aandoening |
| TTRtransthyretin | Vaak (30–79%) | In 1 aandoening |
| TUBA4Atubulin alpha 4a | Vaak (30–79%) | In 1 aandoening |
| UBQLN2ubiquilin 2 | Vaak (30–79%) | In 1 aandoening |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | 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 |
| VPS13Cvacuolar protein sorting 13 homolog C | Vaak (30–79%) | In 2 aandoeningen |
| WARS1tryptophanyl-tRNA synthetase 1 | Vaak (30–79%) | In 1 aandoening |
| WDR62WD repeat domain 62 | Vaak (30–79%) | In 2 aandoeningen |
| WWOXWW domain containing oxidoreductase | Vaak (30–79%) | In 1 aandoening |
| ZFRzinc finger RNA binding protein | Vaak (30–79%) | In 1 aandoening |
| AAASaladin WD repeat nucleoporin | Soms (5–29%) | In 2 aandoeningen |
| ACTA1actin alpha 1, skeletal muscle | Soms (5–29%) | In 1 aandoening |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Soms (5–29%) | In 1 aandoening |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Soms (5–29%) | In 1 aandoening |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Soms (5–29%) | In 2 aandoeningen |
| 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 |
| ATP5MKATP synthase membrane subunit k | Soms (5–29%) | In 1 aandoening |
| ATXN10ataxin 10 | Soms (5–29%) | In 2 aandoeningen |
| AUTS2activator of transcription and developmental regulator AUTS2 | Soms (5–29%) | In 1 aandoening |
| BEAN1brain expressed associated with NEDD4 1 | Soms (5–29%) | In 1 aandoening |
| BICD2BICD cargo adaptor 2 | Soms (5–29%) | In 2 aandoeningen |
| BRCA1BRCA1 DNA repair associated | Soms (5–29%) | In 1 aandoening |
| BRCA2BRCA2 DNA repair associated | Soms (5–29%) | In 1 aandoening |
| BRIP1BRCA1 interacting DNA helicase 1 | Soms (5–29%) | In 1 aandoening |
| C4Acomplement C4A (Chido/Rodgers blood group) | Soms (5–29%) | In 1 aandoening |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Soms (5–29%) | In 2 aandoeningen |
| CCR1C-C motif chemokine receptor 1 | Soms (5–29%) | In 1 aandoening |
| CD40LGCD40 ligand | Soms (5–29%) | In 1 aandoening |
| COQ8Acoenzyme Q8A | Soms (5–29%) | In 2 aandoeningen |
| CSF1Rcolony stimulating factor 1 receptor | Soms (5–29%) | In 2 aandoeningen |
| CTSFcathepsin F | Soms (5–29%) | In 1 aandoening |
| DCCDCC netrin 1 receptor | Soms (5–29%) | In 1 aandoening |
| DHX9DExH-box helicase 9 | Soms (5–29%) | In 1 aandoening |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Soms (5–29%) | In 1 aandoening |
| DNMT1DNA methyltransferase 1 | Soms (5–29%) | In 2 aandoeningen |
| DPYDdihydropyrimidine dehydrogenase | Soms (5–29%) | In 1 aandoening |
| DYMdymeclin | Soms (5–29%) | In 1 aandoening |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Soms (5–29%) | In 1 aandoening |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Soms (5–29%) | In 1 aandoening |
| EXOSC3exosome component 3 | Soms (5–29%) | In 2 aandoeningen |
| EXOSC8exosome component 8 | Soms (5–29%) | In 2 aandoeningen |
| EXOSC9exosome component 9 | Soms (5–29%) | In 2 aandoeningen |
| FAAP100FA core complex associated protein 100 | Soms (5–29%) | In 1 aandoening |
| FANCAFA complementation group A | Soms (5–29%) | In 1 aandoening |
| FANCBFA complementation group B | Soms (5–29%) | In 1 aandoening |
| FANCCFA complementation group C | Soms (5–29%) | In 1 aandoening |
| FANCD2FA complementation group D2 | Soms (5–29%) | In 1 aandoening |
| FANCEFA complementation group E | Soms (5–29%) | In 1 aandoening |
| FANCFFA complementation group F | Soms (5–29%) | In 1 aandoening |
| FANCGFA complementation group G | Soms (5–29%) | In 1 aandoening |
| FANCIFA complementation group I | Soms (5–29%) | In 1 aandoening |
| FANCLFA complementation group L | Soms (5–29%) | In 1 aandoening |
| FANCMFA complementation group M | Soms (5–29%) | In 1 aandoening |
| FASFas cell surface death receptor | Soms (5–29%) | In 1 aandoening |
| FBXO22F-box protein 22 | Soms (5–29%) | In 1 aandoening |
| FKRPfukutin related protein | Soms (5–29%) | In 1 aandoening |
| GAD1glutamate decarboxylase 1 | Soms (5–29%) | In 1 aandoening |
| GALCgalactosylceramidase | Soms (5–29%) | In 1 aandoening |
| GARS1glycyl-tRNA synthetase 1 | Soms (5–29%) | In 2 aandoeningen |
| GBA1glucosylceramidase beta 1 | Soms (5–29%) | In 2 aandoeningen |
| GCLCglutamate-cysteine ligase catalytic subunit | Soms (5–29%) | In 1 aandoening |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Soms (5–29%) | In 1 aandoening |
| GMPPAGDP-mannose pyrophosphorylase A | Soms (5–29%) | In 2 aandoeningen |
| GMPPBGDP-mannose pyrophosphorylase B | Soms (5–29%) | In 1 aandoening |
| GNB1G protein subunit beta 1 | Soms (5–29%) | In 1 aandoening |
| GNB2G protein subunit beta 2 | Soms (5–29%) | In 1 aandoening |
| GRNgranulin precursor | Soms (5–29%) | In 1 aandoening |
| H4C5H4 clustered histone 5 | Soms (5–29%) | In 1 aandoening |
| HIKESHIheat shock protein nuclear import factor hikeshi | Soms (5–29%) | In 1 aandoening |
| HLA-Bmajor histocompatibility complex, class I, B | Soms (5–29%) | In 1 aandoening |
| HPRT1hypoxanthine phosphoribosyltransferase 1 | Soms (5–29%) | In 2 aandoeningen |
| HTRA2HtrA serine peptidase 2 | Soms (5–29%) | In 1 aandoening |
| IFNGR1interferon gamma receptor 1 | Soms (5–29%) | In 1 aandoening |
| IL10interleukin 10 | Soms (5–29%) | In 1 aandoening |
| IL12Ainterleukin 12A | Soms (5–29%) | In 1 aandoening |
| IL12A-AS1IL12A antisense RNA 1 | Soms (5–29%) | In 1 aandoening |
| IL23Rinterleukin 23 receptor | Soms (5–29%) | In 1 aandoening |
| IRF2BPLinterferon regulatory factor 2 binding protein like | Soms (5–29%) | In 1 aandoening |
| ISCA2iron-sulfur cluster assembly 2 | Soms (5–29%) | In 2 aandoeningen |
| JPH3junctophilin 3 | Soms (5–29%) | In 2 aandoeningen |
| KCNJ18potassium inwardly rectifying channel subfamily J member 18 | Soms (5–29%) | In 1 aandoening |
| KLRC4killer cell lectin like receptor C4 | Soms (5–29%) | In 1 aandoening |
| LRRK2leucine rich repeat kinase 2 | Soms (5–29%) | In 1 aandoening |
| MAD2L2mitotic arrest deficient 2 like 2 | Soms (5–29%) | In 1 aandoening |
| MAPTmicrotubule associated protein tau | Soms (5–29%) | In 1 aandoening |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Soms (5–29%) | In 1 aandoening |
| MEFVMEFV innate immunity regulator, pyrin | Soms (5–29%) | In 1 aandoening |
| MFN2mitofusin 2 | Soms (5–29%) | In 1 aandoening |
| MORC2MORC family CW-type zinc finger 2 | Soms (5–29%) | In 1 aandoening |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Soms (5–29%) | In 1 aandoening |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Soms (5–29%) | In 1 aandoening |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Soms (5–29%) | In 1 aandoening |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Soms (5–29%) | In 1 aandoening |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Soms (5–29%) | In 1 aandoening |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Soms (5–29%) | In 1 aandoening |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Soms (5–29%) | In 2 aandoeningen |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Soms (5–29%) | In 1 aandoening |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Soms (5–29%) | In 1 aandoening |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Soms (5–29%) | In 1 aandoening |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Soms (5–29%) | In 1 aandoening |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Soms (5–29%) | In 1 aandoening |
| NAA20N-alpha-acetyltransferase 20, NatB catalytic subunit | Soms (5–29%) | In 1 aandoening |
| NDPnorrin cystine knot growth factor NDP | Soms (5–29%) | In 1 aandoening |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Soms (5–29%) | In 1 aandoening |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Soms (5–29%) | In 1 aandoening |
| PALB2partner and localizer of BRCA2 | Soms (5–29%) | In 1 aandoening |
| PARK7Parkinsonism associated deglycase | Soms (5–29%) | In 1 aandoening |
| PINK1PTEN induced kinase 1 | Soms (5–29%) | In 2 aandoeningen |
| PODXLpodocalyxin like | Soms (5–29%) | In 1 aandoening |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Soms (5–29%) | In 1 aandoening |
| POMKprotein O-mannose kinase | Soms (5–29%) | In 1 aandoening |
| POMT1protein O-mannosyltransferase 1 | Soms (5–29%) | In 1 aandoening |
| POMT2protein O-mannosyltransferase 2 | Soms (5–29%) | In 1 aandoening |
| PPFIA3PPFI scaffold protein A3 | Soms (5–29%) | In 1 aandoening |
| PPOXprotoporphyrinogen oxidase | Soms (5–29%) | In 1 aandoening |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Soms (5–29%) | In 1 aandoening |
| PSEN1presenilin 1 | Soms (5–29%) | In 1 aandoening |
| PTS6-pyruvoyltetrahydropterin synthase | Soms (5–29%) | In 2 aandoeningen |
| PUS3pseudouridine synthase 3 | Soms (5–29%) | In 1 aandoening |
| QARS1glutaminyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| RAD51RAD51 recombinase | Soms (5–29%) | In 1 aandoening |
| RAD51CRAD51 paralog C | Soms (5–29%) | In 1 aandoening |
| REEP1receptor accessory protein 1 | Soms (5–29%) | In 2 aandoeningen |
| RFWD3ring finger and WD repeat domain 3 | Soms (5–29%) | In 1 aandoening |
| RFX7regulatory factor X7 | Soms (5–29%) | In 1 aandoening |
| RNASEH1ribonuclease H1 | Soms (5–29%) | In 1 aandoening |
| SLC1A3solute carrier family 1 member 3 | Soms (5–29%) | In 1 aandoening |
| SLC25A46solute carrier family 25 member 46 | Soms (5–29%) | In 2 aandoeningen |
| SLC29A3solute carrier family 29 member 3 | Soms (5–29%) | In 1 aandoening |
| SLC35C1solute carrier family 35 member C1 | Soms (5–29%) | In 1 aandoening |
| SLC39A8solute carrier family 39 member 8 | Soms (5–29%) | In 2 aandoeningen |
| SLC46A1solute carrier family 46 member 1 | Soms (5–29%) | In 1 aandoening |
| SLX4SLX4 structure-specific endonuclease subunit | Soms (5–29%) | In 1 aandoening |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Soms (5–29%) | In 1 aandoening |
| STAT4signal transducer and activator of transcription 4 | Soms (5–29%) | In 1 aandoening |
| SYNJ1synaptojanin 1 | Soms (5–29%) | In 1 aandoening |
| TANGO2transport and golgi organization 2 homolog | Soms (5–29%) | In 1 aandoening |
| TBX4T-box transcription factor 4 | Soms (5–29%) | In 1 aandoening |
| TICAM1TIR domain containing adaptor molecule 1 | Soms (5–29%) | In 1 aandoening |
| TIMM50translocase of inner mitochondrial membrane 50 | Soms (5–29%) | In 2 aandoeningen |
| TLR3toll like receptor 3 | Soms (5–29%) | In 1 aandoening |
| TLR4toll like receptor 4 | Soms (5–29%) | In 1 aandoening |
| TMEM106Btransmembrane protein 106B | Soms (5–29%) | In 2 aandoeningen |
| TRAF3TNF receptor associated factor 3 | Soms (5–29%) | In 1 aandoening |
| TRAPPC11trafficking protein particle complex subunit 11 | Soms (5–29%) | In 1 aandoening |
| TSEN15tRNA splicing endonuclease subunit 15 | Soms (5–29%) | In 1 aandoening |
| TTC19tetratricopeptide repeat domain 19 | Soms (5–29%) | In 1 aandoening |
| UBAC2UBA domain containing 2 | Soms (5–29%) | In 1 aandoening |
| UBE2Tubiquitin conjugating enzyme E2 T | Soms (5–29%) | In 1 aandoening |
| UNC93B1unc-93B1 regulator of TLR signaling | Soms (5–29%) | In 1 aandoening |
| VRK1VRK serine/threonine kinase 1 | Soms (5–29%) | In 3 aandoeningen |
| WLSWnt ligand secretion mediator | Soms (5–29%) | In 1 aandoening |
| XRCC2X-ray repair cross complementing 2 | Soms (5–29%) | In 1 aandoening |
| ZEB2zinc finger E-box binding homeobox 2 | Soms (5–29%) | In 1 aandoening |
| FDX2ferredoxin 2 | Zelden (1–4%) | In 1 aandoening |
| ABCC8ATP binding cassette subfamily C member 8 | Niet vastgelegd | In 1 aandoening |
| ABHD12abhydrolase domain containing 12, lysophospholipase | Niet vastgelegd | In 1 aandoening |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Niet vastgelegd | In 1 aandoening |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Niet vastgelegd | In 1 aandoening |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Niet vastgelegd | In 1 aandoening |
| ARSAarylsulfatase A | Niet vastgelegd | In 1 aandoening |
| ATL1atlastin GTPase 1 | Niet vastgelegd | In 2 aandoeningen |
| ATP5MC3ATP synthase membrane subunit c locus 3 | Niet vastgelegd | In 1 aandoening |
| ATP6V1AATPase H+ transporting V1 subunit A | Niet vastgelegd | In 1 aandoening |
| ATRXATRX chromatin remodeler | Niet vastgelegd | In 1 aandoening |
| ATXN1ataxin 1 | Niet vastgelegd | In 1 aandoening |
| AUHAU RNA binding methylglutaconyl-CoA hydratase | Niet vastgelegd | In 1 aandoening |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Niet vastgelegd | In 1 aandoening |
| C19orf12chromosome 19 open reading frame 12 | Niet vastgelegd | In 2 aandoeningen |
| CAV1caveolin 1 | Niet vastgelegd | In 1 aandoening |
| CNTNAP1contactin associated protein 1 | Niet vastgelegd | In 1 aandoening |
| COQ2coenzyme Q2, polyprenyltransferase | Niet vastgelegd | In 1 aandoening |
| COQ9coenzyme Q9 | Niet vastgelegd | In 1 aandoening |
| CREBBPCREB binding lysine acetyltransferase | Niet vastgelegd | In 1 aandoening |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Niet vastgelegd | In 1 aandoening |
| DENND5ADENN domain containing 5A | Niet vastgelegd | In 1 aandoening |
| DGUOKdeoxyguanosine kinase | Niet vastgelegd | In 1 aandoening |
| DLATdihydrolipoamide S-acetyltransferase | Niet vastgelegd | In 1 aandoening |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Niet vastgelegd | In 1 aandoening |
| DYNC1I2dynein cytoplasmic 1 intermediate chain 2 | Niet vastgelegd | In 1 aandoening |
| ELOVL4ELOVL fatty acid elongase 4 | Niet vastgelegd | In 1 aandoening |
| EP300EP300 lysine acetyltransferase | Niet vastgelegd | In 1 aandoening |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Niet vastgelegd | In 1 aandoening |
| FTLferritin light chain | Niet vastgelegd | In 1 aandoening |
| GAMTguanidinoacetate N-methyltransferase | Niet vastgelegd | In 1 aandoening |
| GANgigaxonin | Niet vastgelegd | In 1 aandoening |
| GFM1G elongation factor mitochondrial 1 | Niet vastgelegd | In 1 aandoening |
| GLB1galactosidase beta 1 | Niet vastgelegd | In 1 aandoening |
| GLDCglycine decarboxylase | Niet vastgelegd | In 1 aandoening |
| GLYCTKglycerate kinase | Niet vastgelegd | In 1 aandoening |
| HTRA1HtrA serine peptidase 1 | Niet vastgelegd | In 1 aandoening |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Niet vastgelegd | In 1 aandoening |
| IBA57iron-sulfur cluster assembly factor IBA57 | Niet vastgelegd | In 1 aandoening |
| JAM2junctional adhesion molecule 2 | Niet vastgelegd | In 1 aandoening |
| JAM3junctional adhesion molecule 3 | Niet vastgelegd | In 1 aandoening |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Niet vastgelegd | In 1 aandoening |
| KIF1Akinesin family member 1A | Niet vastgelegd | In 2 aandoeningen |
| MAN2B1mannosidase alpha class 2B member 1 | Niet vastgelegd | In 1 aandoening |
| MAT1Amethionine adenosyltransferase 1A | Niet vastgelegd | In 1 aandoening |
| MBOAT7membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7 | Niet vastgelegd | In 1 aandoening |
| MCCC2methylcrotonyl-CoA carboxylase subunit 2 | Niet vastgelegd | In 1 aandoening |
| MECP2methyl-CpG binding protein 2 | Niet vastgelegd | In 2 aandoeningen |
| MRPS34mitochondrial ribosomal protein S34 | Niet vastgelegd | In 1 aandoening |
| MYORGmyogenesis regulating glycosidase | Niet vastgelegd | In 2 aandoeningen |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Niet vastgelegd | In 1 aandoening |
| NAGAalpha-N-acetylgalactosaminidase | Niet vastgelegd | In 1 aandoening |
| NALCNsodium leak channel, non-selective | Niet vastgelegd | In 1 aandoening |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Niet vastgelegd | In 1 aandoening |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Niet vastgelegd | In 1 aandoening |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Niet vastgelegd | In 1 aandoening |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Niet vastgelegd | In 1 aandoening |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Niet vastgelegd | In 1 aandoening |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Niet vastgelegd | In 1 aandoening |
| NEU1neuraminidase 1 | Niet vastgelegd | In 1 aandoening |
| NFASCneurofascin | Niet vastgelegd | In 1 aandoening |
| NIPA1NIPA magnesium transporter 1 | Niet vastgelegd | In 1 aandoening |
| NSD1nuclear receptor binding SET domain protein 1 | Niet vastgelegd | In 1 aandoening |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Niet vastgelegd | In 1 aandoening |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Niet vastgelegd | In 1 aandoening |
| OPA1OPA1 mitochondrial dynamin like GTPase | Niet vastgelegd | In 1 aandoening |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Niet vastgelegd | In 1 aandoening |
| PAHphenylalanine hydroxylase | Niet vastgelegd | In 1 aandoening |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Niet vastgelegd | In 1 aandoening |
| PCDH12protocadherin 12 | Niet vastgelegd | In 1 aandoening |
| PDGFBplatelet derived growth factor subunit B | Niet vastgelegd | In 1 aandoening |
| PDGFRBplatelet derived growth factor receptor beta | Niet vastgelegd | In 1 aandoening |
| PLCB1phospholipase C beta 1 | Niet vastgelegd | In 1 aandoening |
| PQBP1polyglutamine binding protein 1 | Niet vastgelegd | In 1 aandoening |
| PRKCGprotein kinase C gamma | Niet vastgelegd | In 1 aandoening |
| PRNPprion protein (Kanno blood group) | Niet vastgelegd | In 1 aandoening |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | 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 |
| RNASEH2Cribonuclease H2 subunit C | Niet vastgelegd | In 1 aandoening |
| SACSsacsin molecular chaperone | Niet vastgelegd | In 1 aandoening |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Niet vastgelegd | In 1 aandoening |
| SETXsenataxin | Niet vastgelegd | In 1 aandoening |
| SHMT2serine hydroxymethyltransferase 2 | Niet vastgelegd | In 1 aandoening |
| SLC20A2solute carrier family 20 member 2 | Niet vastgelegd | In 1 aandoening |
| SLC52A3solute carrier family 52 member 3 | Niet vastgelegd | In 1 aandoening |
| SPASTspastin | Niet vastgelegd | In 1 aandoening |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Niet vastgelegd | In 1 aandoening |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Niet vastgelegd | In 1 aandoening |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Niet vastgelegd | In 1 aandoening |
| TRAK1trafficking kinesin protein 1 | Niet vastgelegd | In 1 aandoening |
| UBE3Aubiquitin protein ligase E3A | Niet vastgelegd | In 1 aandoening |
| VAC14VAC14 component of PIKFYVE complex | Niet vastgelegd | In 1 aandoening |
| VPS13Dvacuolar protein sorting 13 homolog D | Niet vastgelegd | In 1 aandoening |
| VWA3Bvon Willebrand factor A domain containing 3B | Niet vastgelegd | In 1 aandoening |
| WDR73WD repeat domain 73 | Niet vastgelegd | In 1 aandoening |
| XPR1xenotropic and polytropic retrovirus receptor 1 | Niet vastgelegd | In 1 aandoening |
| ZC4H2zinc finger C4H2-type containing | Niet vastgelegd | In 1 aandoening |
| ZFYVE26zinc finger FYVE-type containing 26 | 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.
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