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Kenmerk
Poor swallowing
Klinische naam: Dysphagia
Difficulty in swallowing.
Samenvatting
- Ook bekend als
- Swallowing difficulties, Swallowing difficulty, Difficulty swallowing
Poor swallowingHP:0002015
Voor wie we er zijnOnze wetenschapProductenResultaten
InloggenVraagAan de slagvanaf $ 449
Read the genes linked to Poor swallowing, and the rest of your genome, with one test.
Vanaf $ 449Gratis verzending · Resultaten binnen 6–8 weken
Mijn Genome Test bestellen569 genen gekoppeld aan Poor swallowing
Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Poor swallowing 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 |
|---|---|---|
| ACTBactin beta | Altijd | In 2 aandoeningen |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Altijd | In 2 aandoeningen |
| AHDC1AT-hook DNA binding motif containing 1 | Altijd | In 1 aandoening |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Altijd | In 5 aandoeningen |
| AMOTL1angiomotin like 1 | Altijd | In 1 aandoening |
| APTXaprataxin | Altijd | In 1 aandoening |
| ASCC1activating signal cointegrator 1 complex subunit 1 | Altijd | In 1 aandoening |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Altijd | In 1 aandoening |
| CCT3chaperonin containing TCP1 subunit 3 | Altijd | In 1 aandoening |
| CHRNDcholinergic receptor nicotinic delta subunit | Altijd | In 2 aandoeningen |
| CILK1ciliogenesis associated kinase 1 | Altijd | In 1 aandoening |
| COQ2coenzyme Q2, polyprenyltransferase | Altijd | In 1 aandoening |
| COX18cytochrome c oxidase assembly factor COX18 | Altijd | In 1 aandoening |
| CSF1Rcolony stimulating factor 1 receptor | Altijd | In 1 aandoening |
| CTSAcathepsin A | Altijd | In 1 aandoening |
| DONSONDNA replication fork stabilization factor DONSON | Altijd | In 1 aandoening |
| DSTdystonin | Altijd | In 1 aandoening |
| EBF3EBF transcription factor 3 | Altijd | In 1 aandoening |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Altijd | In 1 aandoening |
| EIF4A2eukaryotic translation initiation factor 4A2 | Altijd | In 1 aandoening |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Altijd | In 1 aandoening |
| EXOSC5exosome component 5 | Altijd | In 1 aandoening |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Altijd | In 1 aandoening |
| FDXRferredoxin reductase | Altijd | In 1 aandoening |
| GLB1galactosidase beta 1 | Altijd | In 1 aandoening |
| GTPBP1GTP binding protein 1 | Altijd | In 1 aandoening |
| GUK1guanylate kinase 1 | Altijd | In 1 aandoening |
| HIVEP2HIVEP zinc finger 2 | Altijd | In 1 aandoening |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Altijd | In 1 aandoening |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Altijd | In 1 aandoening |
| JPH1junctophilin 1 | Altijd | In 1 aandoening |
| KCNK3potassium two pore domain channel subfamily K member 3 | Altijd | In 1 aandoening |
| KDM6Blysine demethylase 6B | Altijd | In 1 aandoening |
| KIF5Akinesin family member 5A | Altijd | In 1 aandoening |
| KLHL7kelch like family member 7 | Altijd | In 1 aandoening |
| MAPTmicrotubule associated protein tau | Altijd | In 4 aandoeningen |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Altijd | In 1 aandoening |
| MED16mediator complex subunit 16 | Altijd | In 1 aandoening |
| MED17mediator complex subunit 17 | Altijd | In 1 aandoening |
| MEGF10multiple EGF like domains 10 | Altijd | In 2 aandoeningen |
Toon nog 529 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| MFFmitochondrial fission factor | Altijd | In 2 aandoeningen |
| MINPP1multiple inositol-polyphosphate phosphatase 1 | Altijd | In 1 aandoening |
| MRPS25mitochondrial ribosomal protein S25 | Altijd | In 1 aandoening |
| MRPS28mitochondrial ribosomal protein S28 | Altijd | In 1 aandoening |
| MSL2MSL complex subunit 2 | Altijd | In 1 aandoening |
| MYH2myosin heavy chain 2 | Altijd | In 1 aandoening |
| MYMKmyomaker, myoblast fusion factor | Altijd | In 1 aandoening |
| MYO1Hmyosin IH | Altijd | In 1 aandoening |
| NDC1NDC1 transmembrane nucleoporin | Altijd | In 1 aandoening |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Altijd | In 1 aandoening |
| NOTCH3notch receptor 3 | Altijd | In 2 aandoeningen |
| NUP54nucleoporin 54 | Altijd | In 2 aandoeningen |
| PI4KAphosphatidylinositol 4-kinase alpha | Altijd | In 2 aandoeningen |
| POLGDNA polymerase gamma, catalytic subunit | Altijd | In 8 aandoeningen |
| POLR1ARNA polymerase I subunit A | Altijd | In 1 aandoening |
| RAB32RAB32, member RAS oncogene family | Altijd | In 1 aandoening |
| RFC4replication factor C subunit 4 | Altijd | In 1 aandoening |
| RNASEH1ribonuclease H1 | Altijd | In 2 aandoeningen |
| RNU2-2RNA, U2 small nuclear 2 | Altijd | In 1 aandoening |
| SETXsenataxin | Altijd | In 2 aandoeningen |
| SLC19A3solute carrier family 19 member 3 | Altijd | In 1 aandoening |
| SNF8SNF8 subunit of ESCRT-II | Altijd | In 1 aandoening |
| SPARTspartin | Altijd | In 2 aandoeningen |
| SPTBN4spectrin beta, non-erythrocytic 4 | Altijd | In 1 aandoening |
| SYNJ1synaptojanin 1 | Altijd | In 1 aandoening |
| TK2thymidine kinase 2 | Altijd | In 2 aandoeningen |
| TMEM63Btransmembrane protein 63B | Altijd | In 1 aandoening |
| TOP3ADNA topoisomerase III alpha | Altijd | In 2 aandoeningen |
| TOR1Atorsin family 1 member A | Altijd | In 1 aandoening |
| TRAPPC12trafficking protein particle complex subunit 12 | Altijd | In 2 aandoeningen |
| TRIP4thyroid hormone receptor interactor 4 | Altijd | In 1 aandoening |
| TSEN54tRNA splicing endonuclease subunit 54 | Altijd | In 2 aandoeningen |
| UNC13Aunc-13 homolog A | Altijd | In 2 aandoeningen |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Altijd | In 1 aandoening |
| VPS13Avacuolar protein sorting 13 homolog A | Altijd | In 2 aandoeningen |
| VRK1VRK serine/threonine kinase 1 | Altijd | In 1 aandoening |
| XRCC1X-ray repair cross complementing 1 | Altijd | In 1 aandoening |
| ACTA1actin alpha 1, skeletal muscle | Heel vaak (80–99%) | In 6 aandoeningen |
| AMPD2adenosine monophosphate deaminase 2 | Heel vaak (80–99%) | In 1 aandoening |
| APPamyloid beta precursor protein | Heel vaak (80–99%) | In 1 aandoening |
| ATXN7ataxin 7 | Heel vaak (80–99%) | In 2 aandoeningen |
| COL4A5collagen type IV alpha 5 chain | Heel vaak (80–99%) | In 1 aandoening |
| COL4A6collagen type IV alpha 6 chain | Heel vaak (80–99%) | In 1 aandoening |
| COQ4coenzyme Q4 | Heel vaak (80–99%) | In 1 aandoening |
| CRLF1cytokine receptor like factor 1 | Heel vaak (80–99%) | In 1 aandoening |
| CRYABcrystallin alpha B | Heel vaak (80–99%) | In 1 aandoening |
| FTH1ferritin heavy chain 1 | Heel vaak (80–99%) | In 1 aandoening |
| GBA1glucosylceramidase beta 1 | Heel vaak (80–99%) | In 5 aandoeningen |
| GTPBP2GTP binding protein 2 | Heel vaak (80–99%) | In 1 aandoening |
| HLA-DQA1major histocompatibility complex, class II, DQ alpha 1 | Heel vaak (80–99%) | In 1 aandoening |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Heel vaak (80–99%) | In 1 aandoening |
| KLHL40kelch like family member 40 | Heel vaak (80–99%) | In 2 aandoeningen |
| LIG3DNA ligase 3 | Heel vaak (80–99%) | In 2 aandoeningen |
| LMX1BLIM homeobox transcription factor 1 beta | Heel vaak (80–99%) | In 1 aandoening |
| MID1midline 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| NOS1nitric oxide synthase 1 | Heel vaak (80–99%) | In 1 aandoening |
| PABPN1poly(A) binding protein nuclear 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| PRDX3peroxiredoxin 3 | Heel vaak (80–99%) | In 1 aandoening |
| QDPRquinoid dihydropteridine reductase | Heel vaak (80–99%) | In 2 aandoeningen |
| RILPL1Rab interacting lysosomal protein like 1 | Heel vaak (80–99%) | In 1 aandoening |
| RRM1ribonucleotide reductase catalytic subunit M1 | Heel vaak (80–99%) | In 2 aandoeningen |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Heel vaak (80–99%) | In 5 aandoeningen |
| SLC44A1solute carrier family 44 member 1 | Heel vaak (80–99%) | In 1 aandoening |
| SLC5A7solute carrier family 5 member 7 | Heel vaak (80–99%) | In 1 aandoening |
| STXBP1syntaxin binding protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| TTBK2tau tubulin kinase 2 | Heel vaak (80–99%) | In 1 aandoening |
| TYMPthymidine phosphorylase | Heel vaak (80–99%) | In 2 aandoeningen |
| UBTFupstream binding transcription factor | Heel vaak (80–99%) | In 2 aandoeningen |
| ABCD3ATP binding cassette subfamily D member 3 | Vaak (30–79%) | In 1 aandoening |
| ACOX1acyl-CoA oxidase 1 | Vaak (30–79%) | In 2 aandoeningen |
| ADARadenosine deaminase RNA specific | Vaak (30–79%) | In 1 aandoening |
| ADD3adducin 3 | Vaak (30–79%) | In 1 aandoening |
| ANGangiogenin | Vaak (30–79%) | In 1 aandoening |
| ANXA11annexin A11 | Vaak (30–79%) | In 2 aandoeningen |
| ARXaristaless related homeobox | Vaak (30–79%) | In 2 aandoeningen |
| ATN1atrophin 1 | Vaak (30–79%) | In 1 aandoening |
| ATP13A2ATPase cation transporting 13A2 | Vaak (30–79%) | In 3 aandoeningen |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Vaak (30–79%) | In 1 aandoening |
| 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 |
| ATP5F1AATP synthase F1 subunit alpha | Vaak (30–79%) | In 1 aandoening |
| ATP7AATPase copper transporting alpha | Vaak (30–79%) | In 1 aandoening |
| ATXN1ataxin 1 | Vaak (30–79%) | In 2 aandoeningen |
| ATXN2ataxin 2 | Vaak (30–79%) | In 3 aandoeningen |
| BORCS8BLOC-1 related complex subunit 8 | 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 1 aandoening |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Vaak (30–79%) | In 2 aandoeningen |
| CADcarbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase | Vaak (30–79%) | In 1 aandoening |
| CAPRIN1cell cycle associated protein 1 | Vaak (30–79%) | In 1 aandoening |
| CARMIL2capping protein regulator and myosin 1 linker 2 | Vaak (30–79%) | In 1 aandoening |
| CASKcalcium/calmodulin dependent serine protein kinase | Vaak (30–79%) | In 1 aandoening |
| CASZ1castor zinc finger 1 | Vaak (30–79%) | In 1 aandoening |
| CAV1caveolin 1 | Vaak (30–79%) | In 3 aandoeningen |
| CCN2cellular communication network factor 2 | Vaak (30–79%) | In 2 aandoeningen |
| CCNFcyclin F | Vaak (30–79%) | In 1 aandoening |
| CCR6C-C motif chemokine receptor 6 | Vaak (30–79%) | In 2 aandoeningen |
| CDC73cell division cycle 73 | Vaak (30–79%) | In 2 aandoeningen |
| CDKL5cyclin dependent kinase like 5 | Vaak (30–79%) | In 1 aandoening |
| CDONcell adhesion associated, oncogene regulated | Vaak (30–79%) | In 5 aandoeningen |
| CEP85Lcentrosomal protein 85L | 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 4 aandoeningen |
| CHD7chromodomain helicase DNA binding protein 7 | Vaak (30–79%) | In 2 aandoeningen |
| CHMP2Bcharged multivesicular body protein 2B | Vaak (30–79%) | In 1 aandoening |
| CNBPCCHC-type zinc finger nucleic acid binding protein | Vaak (30–79%) | In 1 aandoening |
| COL13A1collagen type XIII alpha 1 chain | Vaak (30–79%) | In 1 aandoening |
| COL7A1collagen type VII alpha 1 chain | Vaak (30–79%) | In 3 aandoeningen |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Vaak (30–79%) | In 2 aandoeningen |
| CRIPTOcripto, EGF-CFC family member | Vaak (30–79%) | In 5 aandoeningen |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Vaak (30–79%) | In 1 aandoening |
| DAOD-amino acid oxidase | Vaak (30–79%) | In 1 aandoening |
| DCTN1dynactin subunit 1 | Vaak (30–79%) | In 2 aandoeningen |
| DDHD2DDHD domain containing 2 | Vaak (30–79%) | In 2 aandoeningen |
| DGUOKdeoxyguanosine kinase | Vaak (30–79%) | In 2 aandoeningen |
| DISP1dispatched RND transporter family member 1 | Vaak (30–79%) | In 5 aandoeningen |
| DKK1dickkopf Wnt signaling pathway inhibitor 1 | Vaak (30–79%) | In 1 aandoening |
| DLL1delta like canonical Notch ligand 1 | Vaak (30–79%) | In 5 aandoeningen |
| DMXL2Dmx like 2 | Vaak (30–79%) | In 1 aandoening |
| DNAJB6DnaJ heat shock protein family (Hsp40) member B6 | Vaak (30–79%) | In 2 aandoeningen |
| DNAJC13DnaJ heat shock protein family (Hsp40) member C13 | Vaak (30–79%) | In 1 aandoening |
| DPYSL5dihydropyrimidinase like 5 | Vaak (30–79%) | In 1 aandoening |
| DTYMKdeoxythymidylate kinase | Vaak (30–79%) | In 1 aandoening |
| ECM1extracellular matrix protein 1 | Vaak (30–79%) | In 1 aandoening |
| EIF4G1eukaryotic translation initiation factor 4 gamma 1 | 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 |
| ERLIN2ER lipid raft associated 2 | Vaak (30–79%) | In 3 aandoeningen |
| FBXL4F-box and leucine rich repeat protein 4 | Vaak (30–79%) | In 1 aandoening |
| FBXO28F-box protein 28 | Vaak (30–79%) | In 1 aandoening |
| FBXO7F-box protein 7 | Vaak (30–79%) | In 1 aandoening |
| FERMT1FERM domain containing kindlin 1 | Vaak (30–79%) | In 2 aandoeningen |
| FGF8fibroblast growth factor 8 | Vaak (30–79%) | In 5 aandoeningen |
| FGFR1fibroblast growth factor receptor 1 | Vaak (30–79%) | In 2 aandoeningen |
| FIG4FIG4 phosphoinositide 5-phosphatase | Vaak (30–79%) | In 1 aandoening |
| FOXH1forkhead box H1 | Vaak (30–79%) | In 5 aandoeningen |
| FTLferritin light chain | Vaak (30–79%) | In 2 aandoeningen |
| FUSFUS RNA binding protein | Vaak (30–79%) | In 3 aandoeningen |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Vaak (30–79%) | In 1 aandoening |
| GAS1growth arrest specific 1 | Vaak (30–79%) | In 5 aandoeningen |
| GBA2glucosylceramidase beta 2 | Vaak (30–79%) | In 1 aandoening |
| GCDHglutaryl-CoA dehydrogenase | Vaak (30–79%) | In 1 aandoening |
| GDAP2ganglioside induced differentiation associated protein 2 | Vaak (30–79%) | In 1 aandoening |
| GFAPglial fibrillary acidic protein | Vaak (30–79%) | In 2 aandoeningen |
| GIGYF2GRB10 interacting GYF protein 2 | Vaak (30–79%) | In 1 aandoening |
| GLE1GLE1 RNA export mediator | Vaak (30–79%) | In 1 aandoening |
| GLI2GLI family zinc finger 2 | Vaak (30–79%) | In 5 aandoeningen |
| GLT8D1glycosyltransferase 8 domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| GNAO1G protein subunit alpha o1 | Vaak (30–79%) | In 2 aandoeningen |
| GNSglucosamine (N-acetyl)-6-sulfatase | Vaak (30–79%) | In 1 aandoening |
| GOSR2golgi SNAP receptor complex member 2 | Vaak (30–79%) | In 1 aandoening |
| GPRC5BG protein-coupled receptor class C group 5 member B | Vaak (30–79%) | In 1 aandoening |
| GRHL2grainyhead like transcription factor 2 | Vaak (30–79%) | In 1 aandoening |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Vaak (30–79%) | In 1 aandoening |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Vaak (30–79%) | In 1 aandoening |
| GRM7glutamate metabotropic receptor 7 | Vaak (30–79%) | In 2 aandoeningen |
| GSNgelsolin | Vaak (30–79%) | In 1 aandoening |
| HACD13-hydroxyacyl-CoA dehydratase 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 2 aandoeningen |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Vaak (30–79%) | In 1 aandoening |
| HLA-Bmajor histocompatibility complex, class I, B | Vaak (30–79%) | In 1 aandoening |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Vaak (30–79%) | In 2 aandoeningen |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Vaak (30–79%) | In 1 aandoening |
| HPCAhippocalcin | Vaak (30–79%) | In 1 aandoening |
| HSPG2heparan sulfate proteoglycan 2 | Vaak (30–79%) | In 1 aandoening |
| IKZF1IKAROS family zinc finger 1 | Vaak (30–79%) | In 1 aandoening |
| IL6STinterleukin 6 cytokine family signal transducer | Vaak (30–79%) | In 1 aandoening |
| IRF2BPLinterferon regulatory factor 2 binding protein like | Vaak (30–79%) | In 1 aandoening |
| IRF5interferon regulatory factor 5 | Vaak (30–79%) | In 2 aandoeningen |
| ITGA7integrin subunit alpha 7 | Vaak (30–79%) | In 1 aandoening |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Vaak (30–79%) | In 2 aandoeningen |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Vaak (30–79%) | In 1 aandoening |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Vaak (30–79%) | In 1 aandoening |
| KCND3potassium voltage-gated channel subfamily D member 3 | Vaak (30–79%) | In 1 aandoening |
| KCNK9potassium two pore domain channel subfamily K member 9 | Vaak (30–79%) | In 2 aandoeningen |
| KIAA0319LKIAA0319 like | Vaak (30–79%) | In 1 aandoening |
| KITKIT proto-oncogene, receptor tyrosine kinase | Vaak (30–79%) | In 2 aandoeningen |
| KLHL41kelch like family member 41 | Vaak (30–79%) | In 2 aandoeningen |
| KMT2Alysine methyltransferase 2A | Vaak (30–79%) | In 1 aandoening |
| KMT2Blysine methyltransferase 2B | Vaak (30–79%) | In 1 aandoening |
| KYkyphoscoliosis peptidase | Vaak (30–79%) | In 2 aandoeningen |
| LAMB2laminin subunit beta 2 | Vaak (30–79%) | In 1 aandoening |
| LBRlamin B receptor | Vaak (30–79%) | In 1 aandoening |
| LGI1leucine rich glioma inactivated 1 | Vaak (30–79%) | In 1 aandoening |
| LMOD3leiomodin 3 | Vaak (30–79%) | In 1 aandoening |
| LRP12LDL receptor related protein 12 | Vaak (30–79%) | In 3 aandoeningen |
| LRRK2leucine rich repeat kinase 2 | Vaak (30–79%) | In 1 aandoening |
| LUZP1leucine zipper protein 1 | Vaak (30–79%) | In 1 aandoening |
| MACF1microtubule actin crosslinking factor 1 | Vaak (30–79%) | In 2 aandoeningen |
| MAP2K2mitogen-activated protein kinase kinase 2 | Vaak (30–79%) | In 1 aandoening |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Vaak (30–79%) | In 1 aandoening |
| MATR3matrin 3 | Vaak (30–79%) | In 3 aandoeningen |
| MBmyoglobin | Vaak (30–79%) | In 1 aandoening |
| MGME1mitochondrial genome maintenance exonuclease 1 | Vaak (30–79%) | In 1 aandoening |
| MMP23Bmatrix metallopeptidase 23B | Vaak (30–79%) | In 1 aandoening |
| MRPS34mitochondrial ribosomal protein S34 | Vaak (30–79%) | In 1 aandoening |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Vaak (30–79%) | In 2 aandoeningen |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Vaak (30–79%) | In 1 aandoening |
| MTHFSmethenyltetrahydrofolate synthetase | Vaak (30–79%) | In 1 aandoening |
| MTRFRmitochondrial translation release factor in rescue | Vaak (30–79%) | In 1 aandoening |
| MUSKmuscle associated receptor tyrosine kinase | Vaak (30–79%) | In 2 aandoeningen |
| MYH11myosin heavy chain 11 | Vaak (30–79%) | In 1 aandoening |
| MYL2myosin light chain 2 | Vaak (30–79%) | In 1 aandoening |
| NAXENAD(P)HX epimerase | Vaak (30–79%) | In 1 aandoening |
| NCAPG2non-SMC condensin II complex subunit G2 | Vaak (30–79%) | In 1 aandoening |
| NEBnebulin | Vaak (30–79%) | In 3 aandoeningen |
| NEFHneurofilament heavy chain | Vaak (30–79%) | In 2 aandoeningen |
| NEK1NIMA related kinase 1 | Vaak (30–79%) | In 2 aandoeningen |
| NEUROD2neuronal differentiation 2 | Vaak (30–79%) | In 2 aandoeningen |
| NF1neurofibromin 1 | Vaak (30–79%) | In 1 aandoening |
| NODALnodal growth differentiation factor | Vaak (30–79%) | In 5 aandoeningen |
| NOP56NOP56 ribonucleoprotein | Vaak (30–79%) | In 2 aandoeningen |
| NOTCH2NLCnotch 2 N-terminal like C | Vaak (30–79%) | In 1 aandoening |
| NSRP1nuclear speckle splicing regulatory protein 1 | Vaak (30–79%) | In 1 aandoening |
| NUP62nucleoporin 62 | Vaak (30–79%) | In 2 aandoeningen |
| NUTM2B-AS1NUTM2B antisense RNA 1 | Vaak (30–79%) | In 1 aandoening |
| OPA1OPA1 mitochondrial dynamin like GTPase | Vaak (30–79%) | In 3 aandoeningen |
| OPTNoptineurin | Vaak (30–79%) | In 2 aandoeningen |
| PANK2pantothenate kinase 2 | Vaak (30–79%) | In 3 aandoeningen |
| PDE8Bphosphodiesterase 8B | Vaak (30–79%) | In 1 aandoening |
| PDGFRAplatelet derived growth factor receptor alpha | Vaak (30–79%) | In 1 aandoening |
| PDPNpodoplanin | Vaak (30–79%) | In 1 aandoening |
| PEX1peroxisomal biogenesis factor 1 | Vaak (30–79%) | In 1 aandoening |
| PFN1profilin 1 | Vaak (30–79%) | In 2 aandoeningen |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Vaak (30–79%) | In 1 aandoening |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Vaak (30–79%) | In 1 aandoening |
| PLA2G6phospholipase A2 group VI | Vaak (30–79%) | In 2 aandoeningen |
| PLCH1phospholipase C eta 1 | Vaak (30–79%) | In 1 aandoening |
| PLP1proteolipid protein 1 | Vaak (30–79%) | In 1 aandoening |
| PLXND1plexin D1 | Vaak (30–79%) | In 1 aandoening |
| PNKPpolynucleotide kinase 3'-phosphatase | Vaak (30–79%) | In 1 aandoening |
| POLR3ARNA polymerase III subunit A | Vaak (30–79%) | In 3 aandoeningen |
| POLR3BRNA polymerase III subunit B | Vaak (30–79%) | In 2 aandoeningen |
| PRDM13PR/SET domain 13 | Vaak (30–79%) | In 1 aandoening |
| PRDM16PR/SET domain 16 | Vaak (30–79%) | In 1 aandoening |
| PRKCZprotein kinase C zeta | Vaak (30–79%) | In 1 aandoening |
| PRKRAprotein activator of interferon induced protein kinase EIF2AK2 | Vaak (30–79%) | In 2 aandoeningen |
| PRNPprion protein (Kanno blood group) | Vaak (30–79%) | In 2 aandoeningen |
| PRPHperipherin | Vaak (30–79%) | In 2 aandoeningen |
| PTCH1patched 1 | Vaak (30–79%) | In 5 aandoeningen |
| PTRHD1peptidyl-tRNA hydrolase domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Vaak (30–79%) | In 1 aandoening |
| RAB3ARAB3A, member RAS oncogene family | Vaak (30–79%) | In 1 aandoening |
| REPS1RALBP1 associated Eps domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| REREarginine-glutamic acid dipeptide repeats | Vaak (30–79%) | In 2 aandoeningen |
| REV3LREV3 like, DNA directed polymerase zeta catalytic subunit | Vaak (30–79%) | In 1 aandoening |
| RHBDF2rhomboid 5 homolog 2 | Vaak (30–79%) | In 1 aandoening |
| RHOBTB2Rho related BTB domain containing 2 | Vaak (30–79%) | In 2 aandoeningen |
| SATB1SATB homeobox 1 | Vaak (30–79%) | In 1 aandoening |
| SCARB2scavenger receptor class B member 2 | 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 |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Vaak (30–79%) | In 3 aandoeningen |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Vaak (30–79%) | In 2 aandoeningen |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Vaak (30–79%) | In 3 aandoeningen |
| SDHCsuccinate dehydrogenase complex subunit C | Vaak (30–79%) | In 3 aandoeningen |
| SDHDsuccinate dehydrogenase complex subunit D | Vaak (30–79%) | In 1 aandoening |
| SELENONselenoprotein N | Vaak (30–79%) | In 1 aandoening |
| SEMA3Esemaphorin 3E | Vaak (30–79%) | In 1 aandoening |
| SERPING1serpin family G member 1 | Vaak (30–79%) | In 1 aandoening |
| SHHsonic hedgehog signaling molecule | Vaak (30–79%) | In 5 aandoeningen |
| SIK1salt inducible kinase 1 | Vaak (30–79%) | In 1 aandoening |
| SIX3SIX homeobox 3 | Vaak (30–79%) | In 5 aandoeningen |
| SKISKI proto-oncogene | Vaak (30–79%) | In 1 aandoening |
| SLC1A3solute carrier family 1 member 3 | Vaak (30–79%) | In 1 aandoening |
| SLC1A4solute carrier family 1 member 4 | 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 1 aandoening |
| SLC32A1solute carrier family 32 member 1 | Vaak (30–79%) | In 1 aandoening |
| SLC9A6solute carrier family 9 member A6 | Vaak (30–79%) | In 3 aandoeningen |
| SMC1Astructural maintenance of chromosomes 1A | Vaak (30–79%) | In 1 aandoening |
| SNCAsynuclein alpha | Vaak (30–79%) | In 3 aandoeningen |
| SOD1superoxide dismutase 1 | Vaak (30–79%) | In 2 aandoeningen |
| SPENspen family transcriptional repressor | Vaak (30–79%) | In 2 aandoeningen |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Vaak (30–79%) | In 3 aandoeningen |
| SPG21SPG21 abhydrolase domain containing, maspardin | Vaak (30–79%) | In 2 aandoeningen |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Vaak (30–79%) | In 3 aandoeningen |
| SPTSSAserine palmitoyltransferase small subunit A | Vaak (30–79%) | In 1 aandoening |
| SQSTM1sequestosome 1 | Vaak (30–79%) | In 3 aandoeningen |
| STAG2STAG2 cohesin complex component | Vaak (30–79%) | In 2 aandoeningen |
| STAT3signal transducer and activator of transcription 3 | Vaak (30–79%) | In 1 aandoening |
| STILSTIL centriolar assembly protein | Vaak (30–79%) | In 5 aandoeningen |
| STUB1STIP1 homology and U-box containing protein 1 | Vaak (30–79%) | In 2 aandoeningen |
| SYT14synaptotagmin 14 | Vaak (30–79%) | In 2 aandoeningen |
| TAF15TATA-box binding protein associated factor 15 | Vaak (30–79%) | In 1 aandoening |
| TAMM41TAM41 mitochondrial translocator assembly and maintenance homolog | Vaak (30–79%) | In 1 aandoening |
| TARDBPTAR DNA binding protein | Vaak (30–79%) | In 4 aandoeningen |
| TBK1TANK binding kinase 1 | Vaak (30–79%) | In 3 aandoeningen |
| TGIF1TGFB induced factor homeobox 1 | Vaak (30–79%) | In 5 aandoeningen |
| TNNT1troponin T1, slow skeletal type | Vaak (30–79%) | In 1 aandoening |
| TNPO3transportin 3 | Vaak (30–79%) | In 1 aandoening |
| TPM2tropomyosin 2 | Vaak (30–79%) | In 2 aandoeningen |
| TPM3tropomyosin 3 | Vaak (30–79%) | In 4 aandoeningen |
| TREM2triggering receptor expressed on myeloid cells 2 | Vaak (30–79%) | In 1 aandoening |
| TRIM8tripartite motif containing 8 | Vaak (30–79%) | In 1 aandoening |
| TRIOtrio Rho guanine nucleotide exchange factor | Vaak (30–79%) | In 1 aandoening |
| TSEN2tRNA splicing endonuclease subunit 2 | Vaak (30–79%) | In 1 aandoening |
| TWNKtwinkle mtDNA helicase | Vaak (30–79%) | In 4 aandoeningen |
| UBE4Bubiquitination factor E4B | Vaak (30–79%) | In 1 aandoening |
| UBQLN2ubiquilin 2 | Vaak (30–79%) | In 3 aandoeningen |
| UNC45Bunc-45 myosin chaperone B | Vaak (30–79%) | In 1 aandoening |
| VAMP1vesicle associated membrane protein 1 | Vaak (30–79%) | In 3 aandoeningen |
| VAPBVAMP associated protein B and C | Vaak (30–79%) | In 2 aandoeningen |
| VARS1valyl-tRNA synthetase 1 | Vaak (30–79%) | In 1 aandoening |
| VCPvalosin containing protein | Vaak (30–79%) | In 3 aandoeningen |
| VPS13Cvacuolar protein sorting 13 homolog C | Vaak (30–79%) | In 1 aandoening |
| VPS35VPS35 retromer complex component | Vaak (30–79%) | In 1 aandoening |
| WASHC5WASH complex subunit 5 | Vaak (30–79%) | In 1 aandoening |
| YARS2tyrosyl-tRNA synthetase 2 | Vaak (30–79%) | In 1 aandoening |
| ZIC2Zic family zinc finger 2 | Vaak (30–79%) | In 5 aandoeningen |
| AASSaminoadipate-semialdehyde synthase | Soms (5–29%) | In 1 aandoening |
| ABCD1ATP binding cassette subfamily D member 1 | Soms (5–29%) | In 1 aandoening |
| ADGRG1adhesion G protein-coupled receptor G1 | Soms (5–29%) | In 1 aandoening |
| ADNPactivity dependent neuroprotector homeobox | Soms (5–29%) | In 1 aandoening |
| ALDH4A1aldehyde dehydrogenase 4 family member A1 | Soms (5–29%) | In 1 aandoening |
| ANKRD11ankyrin repeat domain 11 | Soms (5–29%) | In 1 aandoening |
| AOPEPaminopeptidase O (putative) | Soms (5–29%) | In 1 aandoening |
| ASAH1N-acylsphingosine amidohydrolase 1 | Soms (5–29%) | In 2 aandoeningen |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Soms (5–29%) | In 1 aandoening |
| ATG7autophagy related 7 | Soms (5–29%) | In 1 aandoening |
| ATXN3ataxin 3 | Soms (5–29%) | In 5 aandoeningen |
| ATXN8ataxin 8 | Soms (5–29%) | In 2 aandoeningen |
| ATXN8OSATXN8 opposite strand lncRNA | Soms (5–29%) | In 3 aandoeningen |
| BAP1BRCA1 associated deubiquitinase 1 | Soms (5–29%) | In 1 aandoening |
| BCL11ABCL11 transcription factor A | Soms (5–29%) | In 1 aandoening |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Soms (5–29%) | In 1 aandoening |
| CLN8CLN8 transmembrane ER and ERGIC protein | Soms (5–29%) | In 1 aandoening |
| CMPK2cytidine/uridine monophosphate kinase 2 | Soms (5–29%) | In 1 aandoening |
| CSPP1centrosome and spindle pole associated protein 1 | Soms (5–29%) | In 1 aandoening |
| CTNNB1catenin beta 1 | Soms (5–29%) | In 1 aandoening |
| DAB1DAB adaptor protein 1 | Soms (5–29%) | In 1 aandoening |
| DCXdoublecortin | Soms (5–29%) | In 1 aandoening |
| DDCdopa decarboxylase | Soms (5–29%) | In 1 aandoening |
| DESdesmin | Soms (5–29%) | In 1 aandoening |
| DMPKDM1 protein kinase | Soms (5–29%) | In 2 aandoeningen |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Soms (5–29%) | In 1 aandoening |
| EIF5Aeukaryotic translation initiation factor 5A | Soms (5–29%) | In 1 aandoening |
| EPG5ectopic P-granules 5 autophagy tethering factor | Soms (5–29%) | In 1 aandoening |
| ERLIN1ER lipid raft associated 1 | Soms (5–29%) | In 1 aandoening |
| FKRPfukutin related protein | Soms (5–29%) | In 1 aandoening |
| FMR1fragile X messenger ribonucleoprotein 1 | Soms (5–29%) | In 1 aandoening |
| FOXP2forkhead box P2 | Soms (5–29%) | In 1 aandoening |
| FRG1FSHD region gene 1 | Soms (5–29%) | In 1 aandoening |
| FXNfrataxin | Soms (5–29%) | In 1 aandoening |
| GMPPAGDP-mannose pyrophosphorylase A | Soms (5–29%) | In 1 aandoening |
| GNAQG protein subunit alpha q | 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 |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Soms (5–29%) | In 1 aandoening |
| GRM1glutamate metabotropic receptor 1 | Soms (5–29%) | In 1 aandoening |
| GUCY1A1guanylate cyclase 1 soluble subunit alpha 1 | Soms (5–29%) | In 1 aandoening |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Soms (5–29%) | In 1 aandoening |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Soms (5–29%) | In 1 aandoening |
| HTRA2HtrA serine peptidase 2 | Soms (5–29%) | In 1 aandoening |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Soms (5–29%) | In 1 aandoening |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Soms (5–29%) | In 1 aandoening |
| IDH2isocitrate dehydrogenase (NADP(+)) 2 | Soms (5–29%) | In 1 aandoening |
| IPO8importin 8 | Soms (5–29%) | In 1 aandoening |
| IRF6interferon regulatory factor 6 | Soms (5–29%) | In 1 aandoening |
| JAG1jagged canonical Notch ligand 1 | Soms (5–29%) | In 1 aandoening |
| JAM2junctional adhesion molecule 2 | Soms (5–29%) | In 1 aandoening |
| KAT6Alysine acetyltransferase 6A | Soms (5–29%) | In 1 aandoening |
| KATNB1katanin regulatory subunit B1 | Soms (5–29%) | In 1 aandoening |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Soms (5–29%) | In 1 aandoening |
| LAMA2laminin subunit alpha 2 | Soms (5–29%) | In 1 aandoening |
| LMNB1lamin B1 | Soms (5–29%) | In 1 aandoening |
| LONP1lon peptidase 1, mitochondrial | Soms (5–29%) | In 1 aandoening |
| LRPPRCleucine rich pentatricopeptide repeat containing | Soms (5–29%) | In 2 aandoeningen |
| MADDMAP kinase activating death domain | Soms (5–29%) | In 1 aandoening |
| MAN2C1mannosidase alpha class 2C member 1 | Soms (5–29%) | In 1 aandoening |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Soms (5–29%) | In 2 aandoeningen |
| MMP1matrix metallopeptidase 1 | Soms (5–29%) | In 1 aandoening |
| MSX1msh homeobox 1 | Soms (5–29%) | In 1 aandoening |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | 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 1 aandoening |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Soms (5–29%) | In 2 aandoeningen |
| 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 |
| MYORGmyogenesis regulating glycosidase | Soms (5–29%) | In 2 aandoeningen |
| MYOTmyotilin | Soms (5–29%) | In 1 aandoening |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Soms (5–29%) | In 1 aandoening |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Soms (5–29%) | In 2 aandoeningen |
| NDE1nudE neurodevelopment protein 1 | Soms (5–29%) | In 1 aandoening |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Soms (5–29%) | In 1 aandoening |
| NECTIN1nectin cell adhesion molecule 1 | Soms (5–29%) | In 1 aandoening |
| NEFLneurofilament light chain | Soms (5–29%) | In 1 aandoening |
| NEU1neuraminidase 1 | Soms (5–29%) | In 1 aandoening |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Soms (5–29%) | In 1 aandoening |
| NKX2-5NK2 homeobox 5 | Soms (5–29%) | In 1 aandoening |
| NTRK1neurotrophic receptor tyrosine kinase 1 | Soms (5–29%) | In 1 aandoening |
| OCA2OCA2 melanosomal transmembrane protein | Soms (5–29%) | In 1 aandoening |
| PAX8paired box 8 | Soms (5–29%) | In 1 aandoening |
| PDGFBplatelet derived growth factor subunit B | Soms (5–29%) | In 1 aandoening |
| PDGFRBplatelet derived growth factor receptor beta | Soms (5–29%) | In 1 aandoening |
| PEX16peroxisomal biogenesis factor 16 | Soms (5–29%) | In 1 aandoening |
| PHEXphosphate regulating endopeptidase X-linked | Soms (5–29%) | In 1 aandoening |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Soms (5–29%) | In 1 aandoening |
| PIK3R5phosphoinositide-3-kinase regulatory subunit 5 | Soms (5–29%) | In 1 aandoening |
| PLECplectin | Soms (5–29%) | In 1 aandoening |
| POLG2DNA polymerase gamma 2, accessory subunit | Soms (5–29%) | In 1 aandoening |
| PPFIA3PPFI scaffold protein A3 | Soms (5–29%) | In 1 aandoening |
| PTS6-pyruvoyltetrahydropterin synthase | Soms (5–29%) | In 2 aandoeningen |
| PUF60poly(U) binding splicing factor 60 | 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 |
| RELNreelin | Soms (5–29%) | In 1 aandoening |
| RNF170ring finger protein 170 | Soms (5–29%) | In 1 aandoening |
| RRP12ribosomal RNA processing 12 homolog | Soms (5–29%) | In 1 aandoening |
| SACSsacsin molecular chaperone | Soms (5–29%) | In 1 aandoening |
| SATB2SATB homeobox 2 | Soms (5–29%) | In 1 aandoening |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Soms (5–29%) | In 1 aandoening |
| SIGMAR1sigma receptor chaperone 1 | Soms (5–29%) | In 1 aandoening |
| SLC20A2solute carrier family 20 member 2 | Soms (5–29%) | In 1 aandoening |
| SLC25A4solute carrier family 25 member 4 | Soms (5–29%) | In 1 aandoening |
| SLC52A2solute carrier family 52 member 2 | Soms (5–29%) | In 1 aandoening |
| SONSON DNA and RNA binding protein | Soms (5–29%) | In 1 aandoening |
| SORDsorbitol dehydrogenase | Soms (5–29%) | In 1 aandoening |
| SOX9SRY-box transcription factor 9 | Soms (5–29%) | In 1 aandoening |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Soms (5–29%) | In 1 aandoening |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Soms (5–29%) | In 1 aandoening |
| SRD5A3steroid 5 alpha-reductase 3 | Soms (5–29%) | In 1 aandoening |
| SRPX2sushi repeat containing protein X-linked 2 | Soms (5–29%) | In 1 aandoening |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Soms (5–29%) | In 1 aandoening |
| SYT2synaptotagmin 2 | Soms (5–29%) | In 1 aandoening |
| TANGO2transport and golgi organization 2 homolog | Soms (5–29%) | In 1 aandoening |
| TBCDtubulin folding cofactor D | Soms (5–29%) | In 1 aandoening |
| TFGtrafficking from ER to golgi regulator | Soms (5–29%) | In 1 aandoening |
| THAP11THAP domain containing 11 | Soms (5–29%) | In 1 aandoening |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Soms (5–29%) | In 2 aandoeningen |
| TP63tumor protein p63 | Soms (5–29%) | In 1 aandoening |
| TPP1tripeptidyl peptidase 1 | Soms (5–29%) | In 1 aandoening |
| TRA2Btransformer 2 beta homolog | Soms (5–29%) | In 1 aandoening |
| TRAPPC6Btrafficking protein particle complex subunit 6B | Soms (5–29%) | In 1 aandoening |
| TRMT2BtRNA methyltransferase 2B | Soms (5–29%) | In 1 aandoening |
| TTC19tetratricopeptide repeat domain 19 | Soms (5–29%) | In 1 aandoening |
| TUBA4Atubulin alpha 4a | Soms (5–29%) | In 1 aandoening |
| TUBB4Atubulin beta 4A class IVa | Soms (5–29%) | In 2 aandoeningen |
| TUBB6tubulin beta 6 class V | Soms (5–29%) | In 1 aandoening |
| TYMSthymidylate synthetase | Soms (5–29%) | In 1 aandoening |
| UBE3Aubiquitin protein ligase E3A | Soms (5–29%) | In 3 aandoeningen |
| UCHL1ubiquitin C-terminal hydrolase L1 | Soms (5–29%) | In 1 aandoening |
| WACWW domain containing adaptor with coiled-coil | Soms (5–29%) | In 1 aandoening |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Soms (5–29%) | In 2 aandoeningen |
| WSB2WD repeat and SOCS box containing 2 | Soms (5–29%) | In 1 aandoening |
| XPO1exportin 1 | Soms (5–29%) | In 1 aandoening |
| XPR1xenotropic and polytropic retrovirus receptor 1 | Soms (5–29%) | In 1 aandoening |
| ZFXzinc finger protein X-linked | Soms (5–29%) | In 1 aandoening |
| ZMYM2zinc finger MYM-type containing 2 | Soms (5–29%) | In 1 aandoening |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Zelden (1–4%) | In 1 aandoening |
| CLCN1chloride voltage-gated channel 1 | Zelden (1–4%) | In 2 aandoeningen |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Zelden (1–4%) | In 1 aandoening |
| DNM1Ldynamin 1L | Zelden (1–4%) | In 1 aandoening |
| DYSFdysferlin | Zelden (1–4%) | In 1 aandoening |
| EXT1exostosin glycosyltransferase 1 | Zelden (1–4%) | In 1 aandoening |
| EXT2exostosin glycosyltransferase 2 | Zelden (1–4%) | In 1 aandoening |
| FA2Hfatty acid 2-hydroxylase | Zelden (1–4%) | In 1 aandoening |
| FGF10fibroblast growth factor 10 | Zelden (1–4%) | In 1 aandoening |
| FGFR2fibroblast growth factor receptor 2 | Zelden (1–4%) | In 1 aandoening |
| FGFR3fibroblast growth factor receptor 3 | Zelden (1–4%) | In 1 aandoening |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Zelden (1–4%) | In 1 aandoening |
| PPIBpeptidylprolyl isomerase B | Zelden (1–4%) | In 1 aandoening |
| PYGMglycogen phosphorylase, muscle associated | Zelden (1–4%) | In 1 aandoening |
| RNU4-2RNA, U4 small nuclear 2 | Zelden (1–4%) | In 1 aandoening |
| SETBP1SET binding protein 1 | Zelden (1–4%) | In 1 aandoening |
| ZEB2zinc finger E-box binding homeobox 2 | Zelden (1–4%) | In 2 aandoeningen |
| ACTG2actin gamma 2, smooth muscle | Niet vastgelegd | In 1 aandoening |
| ADH1Calcohol dehydrogenase 1C (class I), gamma polypeptide | Niet vastgelegd | In 1 aandoening |
| APOEapolipoprotein E | Niet vastgelegd | In 1 aandoening |
| ARandrogen receptor | Niet vastgelegd | In 1 aandoening |
| ATP7BATPase copper transporting beta | Niet vastgelegd | In 1 aandoening |
| ATXN10ataxin 10 | Niet vastgelegd | In 1 aandoening |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Niet vastgelegd | In 1 aandoening |
| CAVIN1caveolae associated protein 1 | Niet vastgelegd | In 1 aandoening |
| CHATcholine O-acetyltransferase | Niet vastgelegd | In 1 aandoening |
| CHMP1Acharged multivesicular body protein 1A | Niet vastgelegd | In 1 aandoening |
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Niet vastgelegd | In 2 aandoeningen |
| CHRNEcholinergic receptor nicotinic epsilon subunit | Niet vastgelegd | In 2 aandoeningen |
| CTNScystinosin, lysosomal cystine transporter | Niet vastgelegd | In 1 aandoening |
| FLAD1flavin adenine dinucleotide synthetase 1 | Niet vastgelegd | In 1 aandoening |
| FLNCfilamin C | Niet vastgelegd | In 1 aandoening |
| GCH1GTP cyclohydrolase 1 | Niet vastgelegd | In 1 aandoening |
| GEMIN4gem nuclear organelle associated protein 4 | Niet vastgelegd | In 1 aandoening |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Niet vastgelegd | In 1 aandoening |
| GJB1gap junction protein beta 1 | Niet vastgelegd | In 1 aandoening |
| HOXB1homeobox B1 | Niet vastgelegd | In 1 aandoening |
| HPRT1hypoxanthine phosphoribosyltransferase 1 | Niet vastgelegd | In 1 aandoening |
| HTThuntingtin | Niet vastgelegd | In 1 aandoening |
| KAT6Blysine acetyltransferase 6B | Niet vastgelegd | In 1 aandoening |
| LIFRLIF receptor subunit alpha | Niet vastgelegd | In 1 aandoening |
| MECP2methyl-CpG binding protein 2 | Niet vastgelegd | In 1 aandoening |
| MPZmyelin protein zero | Niet vastgelegd | In 1 aandoening |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Niet vastgelegd | In 1 aandoening |
| MYH14myosin heavy chain 14 | Niet vastgelegd | In 1 aandoening |
| MYH8myosin heavy chain 8 | Niet vastgelegd | In 1 aandoening |
| MYO9Amyosin IXA | Niet vastgelegd | In 1 aandoening |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Niet vastgelegd | In 1 aandoening |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Niet vastgelegd | In 1 aandoening |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | 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 |
| PAX7paired box 7 | Niet vastgelegd | In 1 aandoening |
| PCNAproliferating cell nuclear antigen | Niet vastgelegd | In 1 aandoening |
| PDP1pyruvate dehydrogenase phosphatase catalytic subunit 1 | Niet vastgelegd | In 1 aandoening |
| PLAAphospholipase A2 activating protein | Niet vastgelegd | In 1 aandoening |
| PLIN4perilipin 4 | Niet vastgelegd | In 1 aandoening |
| PNKDPNKD metallo-beta-lactamase domain containing | Niet vastgelegd | In 1 aandoening |
| PRKCGprotein kinase C gamma | Niet vastgelegd | In 1 aandoening |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Niet vastgelegd | In 1 aandoening |
| PSAPprosaposin | Niet vastgelegd | In 1 aandoening |
| PSEN1presenilin 1 | Niet vastgelegd | In 1 aandoening |
| RLIMring finger protein, LIM domain interacting | Niet vastgelegd | In 1 aandoening |
| SLC12A2solute carrier family 12 member 2 | Niet vastgelegd | In 1 aandoening |
| SLC52A3solute carrier family 52 member 3 | Niet vastgelegd | In 2 aandoeningen |
| SLC6A9solute carrier family 6 member 9 | Niet vastgelegd | In 1 aandoening |
| SNCAIPsynuclein alpha interacting protein | Niet vastgelegd | In 1 aandoening |
| TBC1D23TBC1 domain family member 23 | Niet vastgelegd | In 1 aandoening |
| TBPTATA-box binding protein | Niet vastgelegd | In 2 aandoeningen |
| VAC14VAC14 component of PIKFYVE complex | Niet vastgelegd | In 1 aandoening |
| WFS1wolframin ER transmembrane glycoprotein | Niet vastgelegd | In 1 aandoening |
| ZC4H2zinc finger C4H2-type containing | 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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