Kenmerk
Difficulty articulating speech
Klinische naam: Dysarthria
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
Samenvatting
- Ook bekend als
- Dysarthric speech
- Lichaamssysteem
- Abnormality of the nervous system
ReferentiegenoomGRCh38hg38
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Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Difficulty articulating speech 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 |
|---|---|---|
| ABCA2ATP binding cassette subfamily A member 2 | Altijd | In 1 aandoening |
| ABCB7ATP binding cassette subfamily B member 7 | Altijd | In 2 aandoeningen |
| ACBD5acyl-CoA binding domain containing 5 | Altijd | In 1 aandoening |
| ACTBactin beta | Altijd | In 1 aandoening |
| ADCY5adenylate cyclase 5 | Altijd | In 3 aandoeningen |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Altijd | In 3 aandoeningen |
| ANO10anoctamin 10 | Altijd | In 2 aandoeningen |
| ATG5autophagy related 5 | Altijd | In 1 aandoening |
| ATMATM serine/threonine kinase | Altijd | In 3 aandoeningen |
| ATP13A2ATPase cation transporting 13A2 | Altijd | In 5 aandoeningen |
| ATP8A2ATPase phospholipid transporting 8A2 | Altijd | In 1 aandoening |
| ATXN10ataxin 10 | Altijd | In 2 aandoeningen |
| ATXN2ataxin 2 | Altijd | In 4 aandoeningen |
| ATXN7ataxin 7 | Altijd | In 2 aandoeningen |
| CAPRIN1cell cycle associated protein 1 | Altijd | In 1 aandoening |
| CBScystathionine beta-synthase | Altijd | In 1 aandoening |
| CERS1ceramide synthase 1 | Altijd | In 1 aandoening |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Altijd | In 3 aandoeningen |
| CLDN11claudin 11 | Altijd | In 1 aandoening |
| COA7cytochrome c oxidase assembly factor 7 | Altijd | In 1 aandoening |
| COASYCoenzyme A synthase | Altijd | In 2 aandoeningen |
| COX20cytochrome c oxidase assembly factor COX20 | Altijd | In 1 aandoening |
| CSF1Rcolony stimulating factor 1 receptor | Altijd | In 2 aandoeningen |
| CTSAcathepsin A | Altijd | In 1 aandoening |
| CWF19L1CWF19 like cell cycle control factor 1 | Altijd | In 2 aandoeningen |
| DMXL2Dmx like 2 | Altijd | In 2 aandoeningen |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Altijd | In 1 aandoening |
| DNM1Ldynamin 1L | Altijd | In 1 aandoening |
| DYNC1I2dynein cytoplasmic 1 intermediate chain 2 | Altijd | In 1 aandoening |
| EIF2AK1eukaryotic translation initiation factor 2 alpha kinase 1 | Altijd | In 1 aandoening |
| ELOVL4ELOVL fatty acid elongase 4 | Altijd | In 2 aandoeningen |
| EXOSC5exosome component 5 | Altijd | In 1 aandoening |
| FAT2FAT atypical cadherin 2 | Altijd | In 1 aandoening |
| FBXO7F-box protein 7 | Altijd | In 1 aandoening |
| FDXRferredoxin reductase | Altijd | In 1 aandoening |
| FEM1Bfem-1 homolog B | Altijd | In 1 aandoening |
| GFAPglial fibrillary acidic protein | Altijd | In 3 aandoeningen |
| GJC2gap junction protein gamma 2 | Altijd | In 3 aandoeningen |
| GON4Lgon-4 like | Altijd | In 1 aandoening |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Altijd | In 2 aandoeningen |
Toon nog 561 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| GPRC5BG protein-coupled receptor class C group 5 member B | Altijd | In 1 aandoening |
| GRID2glutamate ionotropic receptor delta type subunit 2 | Altijd | In 1 aandoening |
| GRM1glutamate metabotropic receptor 1 | Altijd | In 2 aandoeningen |
| HEPHL1hephaestin like 1 | Altijd | In 1 aandoening |
| HYCC1hyccin PI4KA lipid kinase complex subunit 1 | Altijd | In 1 aandoening |
| JPH1junctophilin 1 | Altijd | In 1 aandoening |
| KCNA4potassium voltage-gated channel subfamily A member 4 | Altijd | In 1 aandoening |
| KCNK3potassium two pore domain channel subfamily K member 3 | Altijd | In 1 aandoening |
| KCTD7potassium channel tetramerization domain containing 7 | Altijd | In 2 aandoeningen |
| KDM6Alysine demethylase 6A | Altijd | In 1 aandoening |
| KIF1Ckinesin family member 1C | Altijd | In 2 aandoeningen |
| KMT2Dlysine methyltransferase 2D | Altijd | In 1 aandoening |
| LAMB1laminin subunit beta 1 | Altijd | In 1 aandoening |
| LRP12LDL receptor related protein 12 | Altijd | In 3 aandoeningen |
| LRRC7leucine rich repeat containing 7 | Altijd | In 1 aandoening |
| MAPTmicrotubule associated protein tau | Altijd | In 4 aandoeningen |
| MAU2MAU2 sister chromatid cohesion factor | Altijd | In 1 aandoening |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Altijd | In 2 aandoeningen |
| MED16mediator complex subunit 16 | Altijd | In 1 aandoening |
| MRE11MRE11 double strand break repair nuclease | Altijd | In 2 aandoeningen |
| MTPAPmitochondrial poly(A) polymerase | Altijd | In 2 aandoeningen |
| MYORGmyogenesis regulating glycosidase | Altijd | In 2 aandoeningen |
| NDC1NDC1 transmembrane nucleoporin | Altijd | In 1 aandoening |
| NDUFAF6NADH:ubiquinone oxidoreductase complex assembly factor 6 | Altijd | In 1 aandoening |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Altijd | In 1 aandoening |
| NKX2-1NK2 homeobox 1 | Altijd | In 3 aandoeningen |
| NOTCH2NLCnotch 2 N-terminal like C | Altijd | In 3 aandoeningen |
| NT5C25'-nucleotidase, cytosolic II | Altijd | In 1 aandoening |
| NUP54nucleoporin 54 | Altijd | In 2 aandoeningen |
| NUTM2B-AS1NUTM2B antisense RNA 1 | Altijd | In 1 aandoening |
| PDE8Bphosphodiesterase 8B | Altijd | In 2 aandoeningen |
| PEX12peroxisomal biogenesis factor 12 | Altijd | In 1 aandoening |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Altijd | In 1 aandoening |
| PIK3R5phosphoinositide-3-kinase regulatory subunit 5 | Altijd | In 1 aandoening |
| PMPCApeptidase, mitochondrial processing subunit alpha | Altijd | In 2 aandoeningen |
| PNPLA6patatin like domain 6, lysophospholipase | Altijd | In 1 aandoening |
| PNPLA8patatin like domain 8, phospholipase A2 | Altijd | In 1 aandoening |
| POLGDNA polymerase gamma, catalytic subunit | Altijd | In 7 aandoeningen |
| POLR3BRNA polymerase III subunit B | Altijd | In 3 aandoeningen |
| PRDX3peroxiredoxin 3 | Altijd | In 1 aandoening |
| PTRHD1peptidyl-tRNA hydrolase domain containing 1 | Altijd | In 1 aandoening |
| RFC4replication factor C subunit 4 | Altijd | In 1 aandoening |
| RNF220ring finger protein 220 | Altijd | In 1 aandoening |
| RRP12ribosomal RNA processing 12 homolog | Altijd | In 1 aandoening |
| RUBCNrubicon autophagy regulator | Altijd | In 2 aandoeningen |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Altijd | In 2 aandoeningen |
| SCO2synthesis of cytochrome C oxidase 2 | Altijd | In 2 aandoeningen |
| SETXsenataxin | Altijd | In 1 aandoening |
| SLC13A3solute carrier family 13 member 3 | Altijd | In 1 aandoening |
| SLC18A2solute carrier family 18 member A2 | Altijd | In 2 aandoeningen |
| SLC25A42solute carrier family 25 member 42 | Altijd | In 1 aandoening |
| SLC2A1solute carrier family 2 member 1 | Altijd | In 5 aandoeningen |
| SNAP25synaptosome associated protein 25 | Altijd | In 1 aandoening |
| SPARTspartin | Altijd | In 2 aandoeningen |
| SPG21SPG21 abhydrolase domain containing, maspardin | Altijd | In 1 aandoening |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Altijd | In 2 aandoeningen |
| SPTBN2spectrin beta, non-erythrocytic 2 | Altijd | In 2 aandoeningen |
| SQSTM1sequestosome 1 | Altijd | In 4 aandoeningen |
| STUB1STIP1 homology and U-box containing protein 1 | Altijd | In 3 aandoeningen |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Altijd | In 2 aandoeningen |
| SYNJ1synaptojanin 1 | Altijd | In 1 aandoening |
| SYT14synaptotagmin 14 | Altijd | In 2 aandoeningen |
| TANGO2transport and golgi organization 2 homolog | Altijd | In 1 aandoening |
| TDP1tyrosyl-DNA phosphodiesterase 1 | Altijd | In 1 aandoening |
| THAP11THAP domain containing 11 | Altijd | In 1 aandoening |
| THG1LtRNA-histidine guanylyltransferase 1 like | Altijd | In 1 aandoening |
| TMEM63Btransmembrane protein 63B | Altijd | In 1 aandoening |
| TNRtenascin R | Altijd | In 1 aandoening |
| TOP3ADNA topoisomerase III alpha | Altijd | In 1 aandoening |
| TOR1Atorsin family 1 member A | Altijd | In 1 aandoening |
| TSPOAP1TSPO associated protein 1 | Altijd | In 1 aandoening |
| TTBK2tau tubulin kinase 2 | Altijd | In 2 aandoeningen |
| TTPAalpha tocopherol transfer protein | Altijd | In 2 aandoeningen |
| TUBB4Atubulin beta 4A class IVa | Altijd | In 1 aandoening |
| UBA5ubiquitin like modifier activating enzyme 5 | Altijd | In 1 aandoening |
| UNC13Aunc-13 homolog A | Altijd | In 2 aandoeningen |
| VLDLRvery low density lipoprotein receptor | Altijd | In 1 aandoening |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Altijd | In 1 aandoening |
| VPS13Avacuolar protein sorting 13 homolog A | Altijd | In 2 aandoeningen |
| VPS41VPS41 subunit of HOPS complex | Altijd | In 2 aandoeningen |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Altijd | In 1 aandoening |
| WWOXWW domain containing oxidoreductase | Altijd | In 2 aandoeningen |
| XRCC1X-ray repair cross complementing 1 | Altijd | In 1 aandoening |
| XRCC4X-ray repair cross complementing 4 | Altijd | In 1 aandoening |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Heel vaak (80–99%) | In 3 aandoeningen |
| ARandrogen receptor | Heel vaak (80–99%) | In 2 aandoeningen |
| ATP7BATPase copper transporting beta | Heel vaak (80–99%) | In 2 aandoeningen |
| BEAN1brain expressed associated with NEDD4 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Heel vaak (80–99%) | In 2 aandoeningen |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Heel vaak (80–99%) | In 2 aandoeningen |
| CAPN1calpain 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| CBLCbl proto-oncogene | Heel vaak (80–99%) | In 1 aandoening |
| DAB1DAB adaptor protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| DAGLAdiacylglycerol lipase alpha | Heel vaak (80–99%) | In 1 aandoening |
| DCAF17DDB1 and CUL4 associated factor 17 | Heel vaak (80–99%) | In 2 aandoeningen |
| EEF2eukaryotic translation elongation factor 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| ELOVL5ELOVL fatty acid elongase 5 | Heel vaak (80–99%) | In 2 aandoeningen |
| FGF14fibroblast growth factor 14 | Heel vaak (80–99%) | In 3 aandoeningen |
| FMR1fragile X messenger ribonucleoprotein 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| FXNfrataxin | Heel vaak (80–99%) | In 3 aandoeningen |
| GPT2glutamic--pyruvic transaminase 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Heel vaak (80–99%) | In 1 aandoening |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Heel vaak (80–99%) | In 3 aandoeningen |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Heel vaak (80–99%) | In 2 aandoeningen |
| KCND3potassium voltage-gated channel subfamily D member 3 | Heel vaak (80–99%) | In 2 aandoeningen |
| KLC2kinesin light chain 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| KRASKRas proto-oncogene, GTPase | Heel vaak (80–99%) | In 3 aandoeningen |
| LZTR1leucine zipper like post translational regulator 1 | Heel vaak (80–99%) | In 1 aandoening |
| MRASmuscle RAS oncogene homolog | Heel vaak (80–99%) | In 1 aandoening |
| NIT1nitrilase 1 | Heel vaak (80–99%) | In 1 aandoening |
| NOP56NOP56 ribonucleoprotein | Heel vaak (80–99%) | In 2 aandoeningen |
| NRASNRAS proto-oncogene, GTPase | Heel vaak (80–99%) | In 2 aandoeningen |
| PANK2pantothenate kinase 2 | Heel vaak (80–99%) | In 3 aandoeningen |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Heel vaak (80–99%) | In 1 aandoening |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Heel vaak (80–99%) | In 1 aandoening |
| RAI1retinoic acid induced 1 | Heel vaak (80–99%) | In 1 aandoening |
| RASA2RAS p21 protein activator 2 | Heel vaak (80–99%) | In 1 aandoening |
| RFC1replication factor C subunit 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| RILPL1Rab interacting lysosomal protein like 1 | Heel vaak (80–99%) | In 1 aandoening |
| RIT1Ras like without CAAX 1 | Heel vaak (80–99%) | In 1 aandoening |
| RNU12RNA, U12 small nuclear | Heel vaak (80–99%) | In 2 aandoeningen |
| RRASRAS related | Heel vaak (80–99%) | In 1 aandoening |
| RRAS2RAS related 2 | Heel vaak (80–99%) | In 1 aandoening |
| SIL1SIL1 nucleotide exchange factor | Heel vaak (80–99%) | In 2 aandoeningen |
| SLC19A3solute carrier family 19 member 3 | Heel vaak (80–99%) | In 2 aandoeningen |
| SLC44A1solute carrier family 44 member 1 | Heel vaak (80–99%) | In 1 aandoening |
| SNAPC4small nuclear RNA activating complex polypeptide 4 | Heel vaak (80–99%) | In 1 aandoening |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Heel vaak (80–99%) | In 1 aandoening |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Heel vaak (80–99%) | In 1 aandoening |
| SPRED2sprouty related EVH1 domain containing 2 | Heel vaak (80–99%) | In 1 aandoening |
| TGM6transglutaminase 6 | Heel vaak (80–99%) | In 2 aandoeningen |
| TUBA4Atubulin alpha 4a | Heel vaak (80–99%) | In 1 aandoening |
| UBTFupstream binding transcription factor | Heel vaak (80–99%) | In 1 aandoening |
| UROC1urocanate hydratase 1 | Heel vaak (80–99%) | In 1 aandoening |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Vaak (30–79%) | In 1 aandoening |
| ABCD3ATP binding cassette subfamily D member 3 | Vaak (30–79%) | In 1 aandoening |
| ADARadenosine deaminase RNA specific | Vaak (30–79%) | In 1 aandoening |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Vaak (30–79%) | In 3 aandoeningen |
| ANGangiogenin | Vaak (30–79%) | In 1 aandoening |
| ANXA11annexin A11 | Vaak (30–79%) | In 2 aandoeningen |
| AQP4aquaporin 4 | Vaak (30–79%) | In 1 aandoening |
| ARSAarylsulfatase A | Vaak (30–79%) | In 4 aandoeningen |
| ARXaristaless related homeobox | Vaak (30–79%) | In 2 aandoeningen |
| ATCAYATCAY kinesin light chain interacting caytaxin | Vaak (30–79%) | In 2 aandoeningen |
| ATN1atrophin 1 | Vaak (30–79%) | In 1 aandoening |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Vaak (30–79%) | In 3 aandoeningen |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Vaak (30–79%) | In 5 aandoeningen |
| ATP2B3ATPase plasma membrane Ca2+ transporting 3 | Vaak (30–79%) | In 1 aandoening |
| ATXN1ataxin 1 | Vaak (30–79%) | In 2 aandoeningen |
| ATXN3ataxin 3 | Vaak (30–79%) | In 5 aandoeningen |
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Vaak (30–79%) | In 1 aandoening |
| C19orf12chromosome 19 open reading frame 12 | Vaak (30–79%) | In 2 aandoeningen |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Vaak (30–79%) | In 6 aandoeningen |
| CACNB4calcium voltage-gated channel auxiliary subunit beta 4 | Vaak (30–79%) | In 3 aandoeningen |
| CAMTA1calmodulin binding transcription activator 1 | Vaak (30–79%) | In 2 aandoeningen |
| CCDC88Ccoiled-coil and HOOK domain protein 88C | Vaak (30–79%) | In 2 aandoeningen |
| CCNFcyclin F | Vaak (30–79%) | In 2 aandoeningen |
| CFAP410cilia and flagella associated protein 410 | Vaak (30–79%) | In 1 aandoening |
| CHAMP1chromosome alignment maintaining phosphoprotein 1 | Vaak (30–79%) | In 1 aandoening |
| CHMP2Bcharged multivesicular body protein 2B | Vaak (30–79%) | In 1 aandoening |
| CISD2CDGSH iron sulfur domain 2 | Vaak (30–79%) | In 1 aandoening |
| CMPK2cytidine/uridine monophosphate kinase 2 | Vaak (30–79%) | In 1 aandoening |
| COA8cytochrome c oxidase assembly factor 8 | Vaak (30–79%) | In 1 aandoening |
| COQ2coenzyme Q2, polyprenyltransferase | Vaak (30–79%) | In 4 aandoeningen |
| CPceruloplasmin | Vaak (30–79%) | In 2 aandoeningen |
| CSTBcystatin B | Vaak (30–79%) | In 2 aandoeningen |
| CTSFcathepsin F | 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 |
| DARS1aspartyl-tRNA synthetase 1 | Vaak (30–79%) | In 1 aandoening |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Vaak (30–79%) | In 2 aandoeningen |
| DCTN1dynactin subunit 1 | Vaak (30–79%) | In 3 aandoeningen |
| DDHD2DDHD domain containing 2 | Vaak (30–79%) | In 2 aandoeningen |
| DLATdihydrolipoamide S-acetyltransferase | Vaak (30–79%) | In 1 aandoening |
| DNAJB6DnaJ heat shock protein family (Hsp40) member B6 | Vaak (30–79%) | In 1 aandoening |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Vaak (30–79%) | In 1 aandoening |
| EIF2B2eukaryotic translation initiation factor 2B subunit beta | Vaak (30–79%) | In 1 aandoening |
| EIF2B4eukaryotic translation initiation factor 2B subunit delta | Vaak (30–79%) | In 1 aandoening |
| ELOVL1ELOVL fatty acid elongase 1 | Vaak (30–79%) | In 1 aandoening |
| EMC10ER membrane protein complex subunit 10 | Vaak (30–79%) | In 1 aandoening |
| ENTPD1ectonucleoside triphosphate diphosphohydrolase 1 | Vaak (30–79%) | In 2 aandoeningen |
| 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 |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Vaak (30–79%) | In 2 aandoeningen |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Vaak (30–79%) | In 2 aandoeningen |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Vaak (30–79%) | In 1 aandoening |
| ERCC5ERCC excision repair 5, endonuclease | Vaak (30–79%) | In 1 aandoening |
| ERLIN1ER lipid raft associated 1 | Vaak (30–79%) | In 2 aandoeningen |
| FA2Hfatty acid 2-hydroxylase | Vaak (30–79%) | In 3 aandoeningen |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Vaak (30–79%) | In 1 aandoening |
| FBLN1fibulin 1 | Vaak (30–79%) | In 1 aandoening |
| FBXL3F-box and leucine rich repeat protein 3 | Vaak (30–79%) | In 1 aandoening |
| FIG4FIG4 phosphoinositide 5-phosphatase | Vaak (30–79%) | In 1 aandoening |
| FLRT1fibronectin leucine rich transmembrane protein 1 | Vaak (30–79%) | In 1 aandoening |
| FOXP2forkhead box P2 | Vaak (30–79%) | In 2 aandoeningen |
| FTLferritin light chain | Vaak (30–79%) | In 2 aandoeningen |
| FUSFUS RNA binding protein | Vaak (30–79%) | In 2 aandoeningen |
| GBA2glucosylceramidase beta 2 | Vaak (30–79%) | In 1 aandoening |
| GCDHglutaryl-CoA dehydrogenase | Vaak (30–79%) | In 1 aandoening |
| GCH1GTP cyclohydrolase 1 | Vaak (30–79%) | In 1 aandoening |
| GDAP2ganglioside induced differentiation associated protein 2 | Vaak (30–79%) | In 1 aandoening |
| 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 2 aandoeningen |
| GLT8D1glycosyltransferase 8 domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| GNSglucosamine (N-acetyl)-6-sulfatase | Vaak (30–79%) | In 1 aandoening |
| GOSR2golgi SNAP receptor complex member 2 | Vaak (30–79%) | In 2 aandoeningen |
| 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 1 aandoening |
| HEXBhexosaminidase subunit beta | Vaak (30–79%) | In 3 aandoeningen |
| HHAThedgehog acyltransferase | Vaak (30–79%) | In 1 aandoening |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Vaak (30–79%) | In 1 aandoening |
| HPCAhippocalcin | Vaak (30–79%) | In 2 aandoeningen |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Vaak (30–79%) | In 1 aandoening |
| IFRD1interferon related developmental regulator 1 | Vaak (30–79%) | In 1 aandoening |
| JAM2junctional adhesion molecule 2 | Vaak (30–79%) | In 2 aandoeningen |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Vaak (30–79%) | In 3 aandoeningen |
| KMT2Blysine methyltransferase 2B | Vaak (30–79%) | In 2 aandoeningen |
| LYRM7LYR motif containing 7 | Vaak (30–79%) | In 1 aandoening |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Vaak (30–79%) | In 1 aandoening |
| MATR3matrin 3 | Vaak (30–79%) | In 3 aandoeningen |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Vaak (30–79%) | In 1 aandoening |
| MMEmembrane metalloendopeptidase | Vaak (30–79%) | In 2 aandoeningen |
| MMUTmethylmalonyl-CoA mutase | Vaak (30–79%) | In 1 aandoening |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Vaak (30–79%) | In 2 aandoeningen |
| MTRFRmitochondrial translation release factor in rescue | Vaak (30–79%) | In 2 aandoeningen |
| MVKmevalonate kinase | Vaak (30–79%) | In 1 aandoening |
| MYOTmyotilin | Vaak (30–79%) | In 1 aandoening |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Vaak (30–79%) | In 1 aandoening |
| NAXENAD(P)HX epimerase | Vaak (30–79%) | In 2 aandoeningen |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | 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 |
| NKX6-2NK6 homeobox 2 | Vaak (30–79%) | In 2 aandoeningen |
| NOTCH3notch receptor 3 | Vaak (30–79%) | In 2 aandoeningen |
| NUP62nucleoporin 62 | Vaak (30–79%) | In 1 aandoening |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Vaak (30–79%) | In 1 aandoening |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Vaak (30–79%) | In 2 aandoeningen |
| OPTNoptineurin | Vaak (30–79%) | In 2 aandoeningen |
| PDE10Aphosphodiesterase 10A | Vaak (30–79%) | In 2 aandoeningen |
| PDYNprodynorphin | Vaak (30–79%) | In 2 aandoeningen |
| PEX10peroxisomal biogenesis factor 10 | Vaak (30–79%) | In 2 aandoeningen |
| PEX16peroxisomal biogenesis factor 16 | Vaak (30–79%) | In 1 aandoening |
| PFN1profilin 1 | Vaak (30–79%) | In 2 aandoeningen |
| PGM3phosphoglucomutase 3 | Vaak (30–79%) | In 2 aandoeningen |
| PLA2G6phospholipase A2 group VI | Vaak (30–79%) | In 4 aandoeningen |
| PLEKHG4pleckstrin homology and RhoGEF domain containing G4 | Vaak (30–79%) | In 1 aandoening |
| PLP1proteolipid protein 1 | Vaak (30–79%) | In 4 aandoeningen |
| PMM2phosphomannomutase 2 | Vaak (30–79%) | In 1 aandoening |
| POLR3GLRNA polymerase III subunit GL | Vaak (30–79%) | In 1 aandoening |
| POU4F1POU class 4 homeobox 1 | Vaak (30–79%) | In 2 aandoeningen |
| PPFIA3PPFI scaffold protein A3 | Vaak (30–79%) | In 1 aandoening |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Vaak (30–79%) | In 1 aandoening |
| PRDM8PR/SET domain 8 | Vaak (30–79%) | In 2 aandoeningen |
| PRICKLE1prickle planar cell polarity protein 1 | Vaak (30–79%) | In 2 aandoeningen |
| PRKRAprotein activator of interferon induced protein kinase EIF2AK2 | Vaak (30–79%) | In 2 aandoeningen |
| PRNPprion protein (Kanno blood group) | Vaak (30–79%) | In 6 aandoeningen |
| PRPHperipherin | Vaak (30–79%) | In 2 aandoeningen |
| PRRT2proline rich transmembrane protein 2 | Vaak (30–79%) | In 1 aandoening |
| PSAPprosaposin | Vaak (30–79%) | In 4 aandoeningen |
| RAB3ARAB3A, member RAS oncogene family | Vaak (30–79%) | In 1 aandoening |
| RANBP2RAN binding protein 2 | Vaak (30–79%) | In 1 aandoening |
| RARS1arginyl-tRNA synthetase 1 | Vaak (30–79%) | In 2 aandoeningen |
| REPS1RALBP1 associated Eps domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| RNASEH1ribonuclease H1 | Vaak (30–79%) | In 2 aandoeningen |
| RNF170ring finger protein 170 | Vaak (30–79%) | In 2 aandoeningen |
| RNF216ring finger protein 216 | Vaak (30–79%) | In 1 aandoening |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Vaak (30–79%) | In 3 aandoeningen |
| RTTNrotatin | Vaak (30–79%) | In 2 aandoeningen |
| SACSsacsin molecular chaperone | Vaak (30–79%) | In 2 aandoeningen |
| SAMD9Lsterile alpha motif domain containing 9 like | Vaak (30–79%) | In 2 aandoeningen |
| SATB1SATB homeobox 1 | Vaak (30–79%) | In 2 aandoeningen |
| SCARB2scavenger receptor class B member 2 | Vaak (30–79%) | In 2 aandoeningen |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Vaak (30–79%) | In 1 aandoening |
| SELENOIselenoprotein I | Vaak (30–79%) | In 1 aandoening |
| SLC30A10solute carrier family 30 member 10 | Vaak (30–79%) | In 2 aandoeningen |
| SLC7A6OSsolute carrier family 7 member 6 opposite strand | Vaak (30–79%) | In 1 aandoening |
| SOD1superoxide dismutase 1 | Vaak (30–79%) | In 2 aandoeningen |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Vaak (30–79%) | In 3 aandoeningen |
| TACO1translational activator of cytochrome c oxidase I | Vaak (30–79%) | In 1 aandoening |
| TAF15TATA-box binding protein associated factor 15 | Vaak (30–79%) | In 1 aandoening |
| TARDBPTAR DNA binding protein | Vaak (30–79%) | In 3 aandoeningen |
| TBC1D24TBC1 domain family member 24 | Vaak (30–79%) | In 3 aandoeningen |
| TBCEtubulin folding cofactor E | Vaak (30–79%) | In 2 aandoeningen |
| TBK1TANK binding kinase 1 | Vaak (30–79%) | In 3 aandoeningen |
| TECPR2tectonin beta-propeller repeat containing 2 | Vaak (30–79%) | In 2 aandoeningen |
| THAP1THAP domain containing 1 | Vaak (30–79%) | In 2 aandoeningen |
| TK2thymidine kinase 2 | Vaak (30–79%) | In 1 aandoening |
| TMEM240transmembrane protein 240 | Vaak (30–79%) | In 2 aandoeningen |
| TPP1tripeptidyl peptidase 1 | Vaak (30–79%) | In 2 aandoeningen |
| TREM2triggering receptor expressed on myeloid cells 2 | Vaak (30–79%) | In 1 aandoening |
| TTC19tetratricopeptide repeat domain 19 | Vaak (30–79%) | In 1 aandoening |
| TWNKtwinkle mtDNA helicase | Vaak (30–79%) | In 4 aandoeningen |
| UBQLN2ubiquilin 2 | Vaak (30–79%) | In 2 aandoeningen |
| VAPBVAMP associated protein B and C | Vaak (30–79%) | In 2 aandoeningen |
| VCPvalosin containing protein | Vaak (30–79%) | In 4 aandoeningen |
| VPS13Dvacuolar protein sorting 13 homolog D | Vaak (30–79%) | In 2 aandoeningen |
| WDR73WD repeat domain 73 | Vaak (30–79%) | In 1 aandoening |
| WFS1wolframin ER transmembrane glycoprotein | Vaak (30–79%) | In 2 aandoeningen |
| XKX-linked Kx blood group antigen, Kell and VPS13A binding protein | Vaak (30–79%) | In 1 aandoening |
| ZFYVE26zinc finger FYVE-type containing 26 | Vaak (30–79%) | In 2 aandoeningen |
| ZNF592zinc finger protein 592 | Vaak (30–79%) | In 1 aandoening |
| AARS1alanyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| ABCD1ATP binding cassette subfamily D member 1 | Soms (5–29%) | In 2 aandoeningen |
| ADD3adducin 3 | Soms (5–29%) | In 1 aandoening |
| ADGRG1adhesion G protein-coupled receptor G1 | Soms (5–29%) | In 1 aandoening |
| ADPRSADP-ribosylserine hydrolase | Soms (5–29%) | In 1 aandoening |
| ALADaminolevulinate dehydratase | Soms (5–29%) | In 1 aandoening |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Soms (5–29%) | In 1 aandoening |
| ANOS1anosmin 1 | Soms (5–29%) | In 1 aandoening |
| ATG7autophagy related 7 | Soms (5–29%) | In 1 aandoening |
| ATP5F1AATP synthase F1 subunit alpha | Soms (5–29%) | In 1 aandoening |
| ATP5F1DATP synthase F1 subunit delta | Soms (5–29%) | In 1 aandoening |
| ATP5F1EATP synthase F1 subunit epsilon | Soms (5–29%) | In 1 aandoening |
| ATP5MKATP synthase membrane subunit k | Soms (5–29%) | In 1 aandoening |
| ATP5POATP synthase peripheral stalk subunit OSCP | Soms (5–29%) | In 1 aandoening |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Soms (5–29%) | In 1 aandoening |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Soms (5–29%) | In 1 aandoening |
| BCL11ABCL11 transcription factor A | Soms (5–29%) | In 1 aandoening |
| BIN1bridging integrator 1 | Soms (5–29%) | In 2 aandoeningen |
| BMPR1Abone morphogenetic protein receptor type 1A | Soms (5–29%) | In 1 aandoening |
| BRCA2BRCA2 DNA repair associated | Soms (5–29%) | In 1 aandoening |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Soms (5–29%) | In 1 aandoening |
| CARS1cysteinyl-tRNA synthetase 1 | Soms (5–29%) | In 2 aandoeningen |
| CCDC141coiled-coil domain containing 141 | Soms (5–29%) | In 1 aandoening |
| CHD7chromodomain helicase DNA binding protein 7 | Soms (5–29%) | In 1 aandoening |
| CHEK2checkpoint kinase 2 | Soms (5–29%) | In 1 aandoening |
| CLIP2CAP-Gly domain containing linker protein 2 | Soms (5–29%) | In 1 aandoening |
| CLN5CLN5 lysosomal BMP synthase | Soms (5–29%) | In 1 aandoening |
| CLPBClpB family mitochondrial disaggregase | Soms (5–29%) | In 1 aandoening |
| COQ4coenzyme Q4 | Soms (5–29%) | In 1 aandoening |
| CPLX1complexin 1 | Soms (5–29%) | In 1 aandoening |
| DBR1debranching RNA lariats 1 | Soms (5–29%) | In 1 aandoening |
| DCCDCC netrin 1 receptor | Soms (5–29%) | In 1 aandoening |
| DDCdopa decarboxylase | Soms (5–29%) | In 1 aandoening |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Soms (5–29%) | In 1 aandoening |
| DUSP6dual specificity phosphatase 6 | Soms (5–29%) | In 1 aandoening |
| EBF3EBF transcription factor 3 | Soms (5–29%) | In 1 aandoening |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Soms (5–29%) | In 1 aandoening |
| EIF2B3eukaryotic translation initiation factor 2B subunit gamma | Soms (5–29%) | In 1 aandoening |
| EIF4Heukaryotic translation initiation factor 4H | Soms (5–29%) | In 1 aandoening |
| ELNelastin | Soms (5–29%) | In 1 aandoening |
| EMX2empty spiracles homeobox 2 | Soms (5–29%) | In 1 aandoening |
| EPCAMepithelial cell adhesion molecule | Soms (5–29%) | In 1 aandoening |
| FAR1fatty acyl-CoA reductase 1 | Soms (5–29%) | In 1 aandoening |
| FEZF1FEZ family zinc finger 1 | Soms (5–29%) | In 1 aandoening |
| FGF17fibroblast growth factor 17 | Soms (5–29%) | In 1 aandoening |
| FGF8fibroblast growth factor 8 | Soms (5–29%) | In 1 aandoening |
| FGFR1fibroblast growth factor receptor 1 | Soms (5–29%) | In 1 aandoening |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Soms (5–29%) | In 1 aandoening |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Soms (5–29%) | In 1 aandoening |
| FTH1ferritin heavy chain 1 | Soms (5–29%) | In 1 aandoening |
| GALCgalactosylceramidase | Soms (5–29%) | In 1 aandoening |
| GALTgalactose-1-phosphate uridylyltransferase | Soms (5–29%) | In 1 aandoening |
| GBF1golgi brefeldin A resistant guanine nucleotide exchange factor 1 | Soms (5–29%) | In 1 aandoening |
| GCLCglutamate-cysteine ligase catalytic subunit | Soms (5–29%) | In 1 aandoening |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Soms (5–29%) | In 2 aandoeningen |
| GJB1gap junction protein beta 1 | Soms (5–29%) | In 2 aandoeningen |
| GRIA1glutamate ionotropic receptor AMPA type subunit 1 | Soms (5–29%) | In 1 aandoening |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Soms (5–29%) | In 1 aandoening |
| GSNgelsolin | 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 |
| GTF2Igeneral transcription factor IIi | Soms (5–29%) | In 1 aandoening |
| GTF2IRD1GTF2I repeat domain containing 1 | Soms (5–29%) | In 1 aandoening |
| GTF2IRD2GTF2I repeat domain containing 2 | Soms (5–29%) | In 1 aandoening |
| HESX1HESX homeobox 1 | Soms (5–29%) | In 1 aandoening |
| HLA-Bmajor histocompatibility complex, class I, B | Soms (5–29%) | In 1 aandoening |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Soms (5–29%) | In 1 aandoening |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Soms (5–29%) | In 1 aandoening |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Soms (5–29%) | In 2 aandoeningen |
| IL17RDinterleukin 17 receptor D | Soms (5–29%) | In 1 aandoening |
| JAK2Janus kinase 2 | Soms (5–29%) | In 1 aandoening |
| KCTD17potassium channel tetramerization domain containing 17 | Soms (5–29%) | In 1 aandoening |
| LIMK1LIM domain kinase 1 | Soms (5–29%) | In 1 aandoening |
| LMNB1lamin B1 | Soms (5–29%) | In 1 aandoening |
| MAP2K1mitogen-activated protein kinase kinase 1 | Soms (5–29%) | In 2 aandoeningen |
| MAP2K2mitogen-activated protein kinase kinase 2 | Soms (5–29%) | In 1 aandoening |
| METTL27methyltransferase like 27 | Soms (5–29%) | In 1 aandoening |
| MLH1mutL homolog 1 | Soms (5–29%) | In 1 aandoening |
| MPLMPL proto-oncogene, thrombopoietin receptor | Soms (5–29%) | In 1 aandoening |
| MPLKIPM-phase specific PLK1 interacting protein | Soms (5–29%) | In 1 aandoening |
| MSH2mutS homolog 2 | Soms (5–29%) | In 1 aandoening |
| MSH6mutS homolog 6 | Soms (5–29%) | In 1 aandoening |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Soms (5–29%) | In 1 aandoening |
| MT-TEmitochondrially encoded tRNA-Glu (GAA/G) | Soms (5–29%) | In 1 aandoening |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Soms (5–29%) | In 1 aandoening |
| MTTPmicrosomal triglyceride transfer protein | Soms (5–29%) | In 1 aandoening |
| MUTYHmutY DNA glycosylase | Soms (5–29%) | In 1 aandoening |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Soms (5–29%) | In 1 aandoening |
| NCF1neutrophil cytosolic factor 1 | Soms (5–29%) | In 1 aandoening |
| NDNFneuron derived neurotrophic factor | Soms (5–29%) | In 1 aandoening |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Soms (5–29%) | In 1 aandoening |
| NEBnebulin | Soms (5–29%) | In 1 aandoening |
| NEFLneurofilament light chain | Soms (5–29%) | In 1 aandoening |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Soms (5–29%) | In 1 aandoening |
| NPATnuclear protein, coactivator of histone transcription | Soms (5–29%) | In 1 aandoening |
| NPPAnatriuretic peptide A | Soms (5–29%) | In 1 aandoening |
| OPA1OPA1 mitochondrial dynamin like GTPase | Soms (5–29%) | In 1 aandoening |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Soms (5–29%) | In 1 aandoening |
| PACS1phosphofurin acidic cluster sorting protein 1 | Soms (5–29%) | In 1 aandoening |
| PDGFBplatelet derived growth factor subunit B | Soms (5–29%) | In 2 aandoeningen |
| PDGFRBplatelet derived growth factor receptor beta | Soms (5–29%) | In 1 aandoening |
| PI4KAphosphatidylinositol 4-kinase alpha | Soms (5–29%) | In 1 aandoening |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Soms (5–29%) | In 1 aandoening |
| PMS1PMS1 homolog 1, mismatch repair system component | Soms (5–29%) | In 1 aandoening |
| PMS2PMS1 homolog 2, mismatch repair system component | Soms (5–29%) | In 1 aandoening |
| PNKPpolynucleotide kinase 3'-phosphatase | Soms (5–29%) | In 1 aandoening |
| POLD1DNA polymerase delta 1, catalytic subunit | Soms (5–29%) | In 1 aandoening |
| POLEDNA polymerase epsilon, catalytic subunit | Soms (5–29%) | In 1 aandoening |
| POLG2DNA polymerase gamma 2, accessory subunit | Soms (5–29%) | In 1 aandoening |
| PRKCGprotein kinase C gamma | Soms (5–29%) | In 2 aandoeningen |
| PROK2prokineticin 2 | Soms (5–29%) | In 1 aandoening |
| PROKR2prokineticin receptor 2 | Soms (5–29%) | In 1 aandoening |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Soms (5–29%) | In 1 aandoening |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Soms (5–29%) | In 1 aandoening |
| PUS3pseudouridine synthase 3 | Soms (5–29%) | In 1 aandoening |
| REEP1receptor accessory protein 1 | Soms (5–29%) | In 2 aandoeningen |
| RELREL proto-oncogene, NF-kB subunit | Soms (5–29%) | In 1 aandoening |
| REREarginine-glutamic acid dipeptide repeats | Soms (5–29%) | In 1 aandoening |
| RFC2replication factor C subunit 2 | 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 |
| RPS20ribosomal protein S20 | Soms (5–29%) | In 1 aandoening |
| RYR1ryanodine receptor 1 | Soms (5–29%) | In 1 aandoening |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Soms (5–29%) | In 1 aandoening |
| SCN5Asodium voltage-gated channel alpha subunit 5 | Soms (5–29%) | In 1 aandoening |
| SEMA3Asemaphorin 3A | Soms (5–29%) | In 1 aandoening |
| SEMA4Asemaphorin 4A | Soms (5–29%) | In 1 aandoening |
| SH3TC2SH3 domain and tetratricopeptide repeats 2 | Soms (5–29%) | In 1 aandoening |
| SKOR2SKI family transcriptional corepressor 2 | Soms (5–29%) | In 1 aandoening |
| SLC1A3solute carrier family 1 member 3 | Soms (5–29%) | In 2 aandoeningen |
| SLC20A2solute carrier family 20 member 2 | Soms (5–29%) | In 1 aandoening |
| SLC25A4solute carrier family 25 member 4 | Soms (5–29%) | In 1 aandoening |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Soms (5–29%) | In 1 aandoening |
| SNORD118small nucleolar RNA, C/D box 118 | Soms (5–29%) | In 2 aandoeningen |
| SOX10SRY-box transcription factor 10 | Soms (5–29%) | In 1 aandoening |
| SPASTspastin | Soms (5–29%) | In 1 aandoening |
| SPEGstriated muscle enriched protein kinase | Soms (5–29%) | In 1 aandoening |
| SPRY4sprouty RTK signaling antagonist 4 | Soms (5–29%) | In 1 aandoening |
| SRCAPSnf2 related CREBBP activator protein | Soms (5–29%) | In 1 aandoening |
| SRPX2sushi repeat containing protein X-linked 2 | Soms (5–29%) | In 2 aandoeningen |
| STAC3SH3 and cysteine rich domain 3 | Soms (5–29%) | In 1 aandoening |
| STX1Asyntaxin 1A | Soms (5–29%) | In 1 aandoening |
| SYT2synaptotagmin 2 | Soms (5–29%) | In 1 aandoening |
| TACR3tachykinin receptor 3 | Soms (5–29%) | In 1 aandoening |
| TARS1threonyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| TBL2transducin beta like 2 | Soms (5–29%) | In 1 aandoening |
| TGFBR2transforming growth factor beta receptor 2 | Soms (5–29%) | In 1 aandoening |
| THPOthrombopoietin | Soms (5–29%) | In 1 aandoening |
| TMEM106Btransmembrane protein 106B | Soms (5–29%) | In 1 aandoening |
| TMEM163transmembrane protein 163 | Soms (5–29%) | In 1 aandoening |
| TMEM270transmembrane protein 270 | Soms (5–29%) | In 1 aandoening |
| TPK1thiamin pyrophosphokinase 1 | Soms (5–29%) | In 1 aandoening |
| TTNtitin | Soms (5–29%) | In 1 aandoening |
| TUBB3tubulin beta 3 class III | Soms (5–29%) | In 1 aandoening |
| UCHL1ubiquitin C-terminal hydrolase L1 | Soms (5–29%) | In 1 aandoening |
| VPS37DVPS37D subunit of ESCRT-I | Soms (5–29%) | In 1 aandoening |
| WACWW domain containing adaptor with coiled-coil | Soms (5–29%) | In 1 aandoening |
| WDR11WD repeat domain 11 | Soms (5–29%) | In 1 aandoening |
| WDR62WD repeat domain 62 | Soms (5–29%) | In 1 aandoening |
| XPO1exportin 1 | Soms (5–29%) | In 1 aandoening |
| XPR1xenotropic and polytropic retrovirus receptor 1 | Soms (5–29%) | In 2 aandoeningen |
| ATL1atlastin GTPase 1 | Zelden (1–4%) | In 1 aandoening |
| CHD3chromodomain helicase DNA binding protein 3 | Zelden (1–4%) | In 1 aandoening |
| CIITAclass II major histocompatibility complex transactivator | Zelden (1–4%) | In 1 aandoening |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Zelden (1–4%) | In 2 aandoeningen |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Zelden (1–4%) | In 1 aandoening |
| RFX5regulatory factor X5 | Zelden (1–4%) | In 1 aandoening |
| RFXANKregulatory factor X associated ankyrin containing protein | Zelden (1–4%) | In 1 aandoening |
| RFXAPregulatory factor X associated protein | Zelden (1–4%) | In 1 aandoening |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Zelden (1–4%) | In 1 aandoening |
| UBAP1ubiquitin associated protein 1 | Zelden (1–4%) | In 1 aandoening |
| AAASaladin WD repeat nucleoporin | Niet vastgelegd | In 1 aandoening |
| ABHD12abhydrolase domain containing 12, lysophospholipase | Niet vastgelegd | In 1 aandoening |
| ADA2adenosine deaminase 2 | Niet vastgelegd | In 1 aandoening |
| ADH1Calcohol dehydrogenase 1C (class I), gamma polypeptide | Niet vastgelegd | In 1 aandoening |
| AMACRalpha-methylacyl-CoA racemase | Niet vastgelegd | In 1 aandoening |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Niet vastgelegd | In 1 aandoening |
| APOEapolipoprotein E | Niet vastgelegd | In 1 aandoening |
| APTXaprataxin | Niet vastgelegd | In 2 aandoeningen |
| ATXN8ataxin 8 | Niet vastgelegd | In 1 aandoening |
| ATXN8OSATXN8 opposite strand lncRNA | Niet vastgelegd | In 2 aandoeningen |
| AUHAU RNA binding methylglutaconyl-CoA hydratase | Niet vastgelegd | In 1 aandoening |
| C9orf72C9orf72-SMCR8 complex subunit | Niet vastgelegd | In 1 aandoening |
| CA8carbonic anhydrase 8 (inactive) | Niet vastgelegd | In 1 aandoening |
| CACNA2D2calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Niet vastgelegd | In 1 aandoening |
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Niet vastgelegd | In 2 aandoeningen |
| CHRNEcholinergic receptor nicotinic epsilon subunit | Niet vastgelegd | In 1 aandoening |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Niet vastgelegd | In 1 aandoening |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Niet vastgelegd | In 1 aandoening |
| CTC1CST telomere replication complex component 1 | Niet vastgelegd | In 1 aandoening |
| DCXdoublecortin | Niet vastgelegd | In 1 aandoening |
| DEGS1delta 4-desaturase, sphingolipid 1 | Niet vastgelegd | In 1 aandoening |
| DRD3dopamine receptor D3 | Niet vastgelegd | In 1 aandoening |
| EIF2B1eukaryotic translation initiation factor 2B subunit alpha | Niet vastgelegd | In 1 aandoening |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Niet vastgelegd | In 1 aandoening |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Niet vastgelegd | In 1 aandoening |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Niet vastgelegd | In 1 aandoening |
| GANgigaxonin | Niet vastgelegd | In 1 aandoening |
| GBA1glucosylceramidase beta 1 | Niet vastgelegd | In 1 aandoening |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Niet vastgelegd | In 1 aandoening |
| GLRX5glutaredoxin 5 | Niet vastgelegd | In 1 aandoening |
| GSSglutathione synthetase | Niet vastgelegd | In 1 aandoening |
| HOXB1homeobox B1 | Niet vastgelegd | In 1 aandoening |
| HPRT1hypoxanthine phosphoribosyltransferase 1 | Niet vastgelegd | In 1 aandoening |
| HTRA1HtrA serine peptidase 1 | Niet vastgelegd | In 1 aandoening |
| IRF2BPLinterferon regulatory factor 2 binding protein like | Niet vastgelegd | In 1 aandoening |
| JPH3junctophilin 3 | Niet vastgelegd | In 1 aandoening |
| MAN2B1mannosidase alpha class 2B member 1 | Niet vastgelegd | In 1 aandoening |
| MED13Lmediator complex subunit 13L | Niet vastgelegd | In 1 aandoening |
| MKS1MKS transition zone complex subunit 1 | Niet vastgelegd | In 1 aandoening |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Niet vastgelegd | In 1 aandoening |
| MUSKmuscle associated receptor tyrosine kinase | Niet vastgelegd | In 1 aandoening |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Niet vastgelegd | In 1 aandoening |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Niet vastgelegd | In 1 aandoening |
| NFASCneurofascin | 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 |
| NR4A2nuclear receptor subfamily 4 group A member 2 | 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 |
| PABPN1poly(A) binding protein nuclear 1 | Niet vastgelegd | In 1 aandoening |
| PCGF2polycomb group ring finger 2 | Niet vastgelegd | In 1 aandoening |
| PCNAproliferating cell nuclear antigen | Niet vastgelegd | In 1 aandoening |
| PEX2peroxisomal biogenesis factor 2 | Niet vastgelegd | In 1 aandoening |
| PLD3phospholipase D family member 3 | Niet vastgelegd | In 1 aandoening |
| PNKDPNKD metallo-beta-lactamase domain containing | Niet vastgelegd | In 1 aandoening |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Niet vastgelegd | In 1 aandoening |
| POLR3ARNA polymerase III subunit A | Niet vastgelegd | In 1 aandoening |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Niet vastgelegd | In 1 aandoening |
| PPP2R2Bprotein phosphatase 2 regulatory subunit Bbeta | Niet vastgelegd | In 1 aandoening |
| PSEN1presenilin 1 | Niet vastgelegd | In 1 aandoening |
| RAB39BRAB39B, member RAS oncogene family | Niet vastgelegd | In 1 aandoening |
| RPIAribose 5-phosphate isomerase A | Niet vastgelegd | In 1 aandoening |
| SERPINI1serpin family I member 1 | Niet vastgelegd | In 1 aandoening |
| SLC16A2solute carrier family 16 member 2 | Niet vastgelegd | In 1 aandoening |
| SLC17A5solute carrier family 17 member 5 | Niet vastgelegd | In 1 aandoening |
| SLC35A1solute carrier family 35 member A1 | Niet vastgelegd | In 1 aandoening |
| SLC9A1solute carrier family 9 member A1 | Niet vastgelegd | In 1 aandoening |
| SMSspermine synthase | Niet vastgelegd | In 1 aandoening |
| SNCAsynuclein alpha | Niet vastgelegd | In 1 aandoening |
| SNCAIPsynuclein alpha interacting protein | Niet vastgelegd | In 1 aandoening |
| SPRsepiapterin reductase | Niet vastgelegd | In 1 aandoening |
| SUFUSUFU negative regulator of hedgehog signaling | Niet vastgelegd | In 1 aandoening |
| TBC1D23TBC1 domain family member 23 | Niet vastgelegd | In 1 aandoening |
| TBPTATA-box binding protein | Niet vastgelegd | In 2 aandoeningen |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Niet vastgelegd | In 1 aandoening |
| TRAPPC11trafficking protein particle complex subunit 11 | Niet vastgelegd | In 1 aandoening |
| TREX1three prime repair exonuclease 1 | Niet vastgelegd | In 1 aandoening |
| TRIM37tripartite motif containing 37 | Niet vastgelegd | In 1 aandoening |
| TTRtransthyretin | Niet vastgelegd | In 1 aandoening |
| VAMP1vesicle associated membrane protein 1 | Niet vastgelegd | In 2 aandoeningen |
| VWA3Bvon Willebrand factor A domain containing 3B | Niet vastgelegd | In 1 aandoening |
| WDR81WD repeat domain 81 | Niet vastgelegd | In 1 aandoening |
| WIPI2WD repeat domain, phosphoinositide interacting 2 | Niet vastgelegd | In 1 aandoening |
| ZBTB11zinc finger and BTB domain containing 11 | Niet vastgelegd | In 1 aandoening |
| ZC4H2zinc finger C4H2-type containing | Niet vastgelegd | In 1 aandoening |
| ZFHX3zinc finger homeobox 3 | 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
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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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