Kenmerk
Motor delay
A type of Developmental delay characterized by a delay in acquiring motor skills.
Samenvatting
- Ook bekend als
- Delay in development of motor milestones, Delay in motor development, Delayed development of motor milestones, Delayed early motor milestones, Delayed motor development, Delayed motor milestones, Locomotor delay, Motor developmental delay, Motor developmental milestones not achieved, Slow development of motor milestones
- Lichaamssysteem
- Abnormality of the nervous system
ReferentiegenoomGRCh38hg38
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Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Motor delay 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 |
|---|---|---|
| ABCC8ATP binding cassette subfamily C member 8 | Altijd | In 2 aandoeningen |
| ACADSBacyl-CoA dehydrogenase short/branched chain | Altijd | In 1 aandoening |
| ACBD5acyl-CoA binding domain containing 5 | Altijd | In 1 aandoening |
| ACTBactin beta | Altijd | In 1 aandoening |
| ADAadenosine deaminase | Altijd | In 1 aandoening |
| ADARB1adenosine deaminase RNA specific B1 | Altijd | In 1 aandoening |
| AGO2argonaute RISC catalytic component 2 | Altijd | In 1 aandoening |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Altijd | In 2 aandoeningen |
| AHDC1AT-hook DNA binding motif containing 1 | Altijd | In 2 aandoeningen |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Altijd | In 3 aandoeningen |
| AMFRautocrine motility factor receptor | Altijd | In 1 aandoening |
| AP3B1adaptor related protein complex 3 subunit beta 1 | Altijd | In 1 aandoening |
| ASPMassembly factor for spindle microtubules | Altijd | In 1 aandoening |
| ATP2A1ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 | Altijd | In 1 aandoening |
| ATP2B3ATPase plasma membrane Ca2+ transporting 3 | Altijd | In 2 aandoeningen |
| ATP6V1AATPase H+ transporting V1 subunit A | Altijd | In 2 aandoeningen |
| ATP9AATPase phospholipid transporting 9A | Altijd | In 1 aandoening |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Altijd | In 1 aandoening |
| BAIAP2BAR/IMD domain containing adaptor protein 2 | Altijd | In 1 aandoening |
| BCKDKbranched chain keto acid dehydrogenase kinase | Altijd | In 1 aandoening |
| BCORBCL6 corepressor | Altijd | In 2 aandoeningen |
| CACNA1Scalcium voltage-gated channel subunit alpha1 S | Altijd | In 1 aandoening |
| CDK13cyclin dependent kinase 13 | Altijd | In 1 aandoening |
| CEP295centrosomal protein 295 | Altijd | In 1 aandoening |
| CFL2cofilin 2 | Altijd | In 1 aandoening |
| CHAMP1chromosome alignment maintaining phosphoprotein 1 | Altijd | In 1 aandoening |
| CHD7chromodomain helicase DNA binding protein 7 | Altijd | In 1 aandoening |
| CHRNDcholinergic receptor nicotinic delta subunit | Altijd | In 1 aandoening |
| CHST3carbohydrate sulfotransferase 3 | Altijd | In 2 aandoeningen |
| CICcapicua transcriptional repressor | Altijd | In 1 aandoening |
| CLCN6Cl-/H+ antiporter 6 | Altijd | In 1 aandoening |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Altijd | In 1 aandoening |
| COG5component of oligomeric golgi complex 5 | Altijd | In 2 aandoeningen |
| COL12A1collagen type XII alpha 1 chain | Altijd | In 3 aandoeningen |
| COL6A1collagen type VI alpha 1 chain | Altijd | In 2 aandoeningen |
| COL6A2collagen type VI alpha 2 chain | Altijd | In 1 aandoening |
| CPEcarboxypeptidase E | Altijd | In 1 aandoening |
| CPT1Acarnitine palmitoyltransferase 1A | Altijd | In 1 aandoening |
| CRATcarnitine O-acetyltransferase | Altijd | In 1 aandoening |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Altijd | In 1 aandoening |
Toon nog 728 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| CTBP1C-terminal binding protein 1 | Altijd | In 1 aandoening |
| CUL3cullin 3 | Altijd | In 1 aandoening |
| CUL4Bcullin 4B | Altijd | In 1 aandoening |
| DAGLAdiacylglycerol lipase alpha | Altijd | In 1 aandoening |
| DEAF1DEAF1 transcription factor | Altijd | In 2 aandoeningen |
| DHRS3dehydrogenase/reductase 3 | Altijd | In 1 aandoening |
| DHX30DExH-box helicase 30 | Altijd | In 1 aandoening |
| DLG3discs large MAGUK scaffold protein 3 | Altijd | In 1 aandoening |
| DMXL2Dmx like 2 | Altijd | In 1 aandoening |
| DNASE2deoxyribonuclease 2, lysosomal | Altijd | In 1 aandoening |
| DPM3dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Altijd | In 1 aandoening |
| DSTdystonin | Altijd | In 2 aandoeningen |
| DYNC1I2dynein cytoplasmic 1 intermediate chain 2 | Altijd | In 1 aandoening |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Altijd | In 1 aandoening |
| EGR2early growth response 2 | Altijd | In 2 aandoeningen |
| ELOVL1ELOVL fatty acid elongase 1 | Altijd | In 1 aandoening |
| ERI1exoribonuclease 1 | Altijd | In 1 aandoening |
| FBN1fibrillin 1 | Altijd | In 2 aandoeningen |
| FDXRferredoxin reductase | Altijd | In 1 aandoening |
| FGD4FYVE, RhoGEF and PH domain containing 4 | Altijd | In 1 aandoening |
| FITM2fat storage inducing transmembrane protein 2 | Altijd | In 1 aandoening |
| FKBP14FKBP prolyl isomerase 14 | Altijd | In 2 aandoeningen |
| FKTNfukutin | Altijd | In 3 aandoeningen |
| FOXP1forkhead box P1 | Altijd | In 2 aandoeningen |
| FRMD5FERM domain containing 5 | Altijd | In 1 aandoening |
| FXR1FMR1 autosomal homolog 1 | Altijd | In 2 aandoeningen |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Altijd | In 1 aandoening |
| GALNSgalactosamine (N-acetyl)-6-sulfatase | Altijd | In 1 aandoening |
| GANgigaxonin | Altijd | In 1 aandoening |
| GARS1glycyl-tRNA synthetase 1 | Altijd | In 1 aandoening |
| GEMIN5gem nuclear organelle associated protein 5 | Altijd | In 1 aandoening |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Altijd | In 3 aandoeningen |
| GGPS1geranylgeranyl diphosphate synthase 1 | Altijd | In 1 aandoening |
| GJC2gap junction protein gamma 2 | Altijd | In 1 aandoening |
| GLRBglycine receptor beta | Altijd | In 1 aandoening |
| GTPBP1GTP binding protein 1 | Altijd | In 1 aandoening |
| GTPBP2GTP binding protein 2 | Altijd | In 1 aandoening |
| GUSBglucuronidase beta | Altijd | In 1 aandoening |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Altijd | In 2 aandoeningen |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Altijd | In 1 aandoening |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Altijd | In 2 aandoeningen |
| HID1HID1 domain containing | Altijd | In 1 aandoening |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Altijd | In 1 aandoening |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Altijd | In 1 aandoening |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Altijd | In 1 aandoening |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Altijd | In 2 aandoeningen |
| IFT52intraflagellar transport 52 | Altijd | In 1 aandoening |
| IFT74intraflagellar transport 74 | Altijd | In 1 aandoening |
| IGF1insulin like growth factor 1 | Altijd | In 2 aandoeningen |
| IL1RNinterleukin 1 receptor antagonist | Altijd | In 1 aandoening |
| IL37interleukin 37 | Altijd | In 1 aandoening |
| INTS11integrator complex subunit 11 | Altijd | In 1 aandoening |
| IPO8importin 8 | Altijd | In 1 aandoening |
| IQSEC1IQ motif and Sec7 domain ArfGEF 1 | Altijd | In 1 aandoening |
| ITCHitchy E3 ubiquitin protein ligase | Altijd | In 1 aandoening |
| ITGA7integrin subunit alpha 7 | Altijd | In 2 aandoeningen |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Altijd | In 3 aandoeningen |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Altijd | In 1 aandoening |
| JKAMPJNK1/MAPK8 associated membrane protein | Altijd | In 1 aandoening |
| KARS1lysyl-tRNA synthetase 1 | Altijd | In 1 aandoening |
| KATNB1katanin regulatory subunit B1 | Altijd | In 1 aandoening |
| KDM5Clysine demethylase 5C | Altijd | In 1 aandoening |
| KPNA3karyopherin subunit alpha 3 | Altijd | In 1 aandoening |
| LAMA2laminin subunit alpha 2 | Altijd | In 3 aandoeningen |
| LAMB1laminin subunit beta 1 | Altijd | In 1 aandoening |
| LGI1leucine rich glioma inactivated 1 | Altijd | In 1 aandoening |
| LIASlipoic acid synthetase | Altijd | In 1 aandoening |
| LIG1DNA ligase 1 | Altijd | In 1 aandoening |
| LINGO1leucine rich repeat and Ig domain containing 1 | Altijd | In 1 aandoening |
| MADDMAP kinase activating death domain | Altijd | In 2 aandoeningen |
| MAN1B1mannosidase alpha class 1B member 1 | Altijd | In 1 aandoening |
| MAN2C1mannosidase alpha class 2C member 1 | Altijd | In 1 aandoening |
| MARS1methionyl-tRNA synthetase 1 | Altijd | In 2 aandoeningen |
| MAU2MAU2 sister chromatid cohesion factor | Altijd | In 1 aandoening |
| MBD5methyl-CpG binding domain protein 5 | Altijd | In 1 aandoening |
| MCEEmethylmalonyl-CoA epimerase | Altijd | In 1 aandoening |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Altijd | In 1 aandoening |
| MEF2Cmyocyte enhancer factor 2C | Altijd | In 1 aandoening |
| MFFmitochondrial fission factor | Altijd | In 2 aandoeningen |
| MICU1mitochondrial calcium uptake 1 | Altijd | In 1 aandoening |
| MLIPmuscular LMNA interacting protein | Altijd | In 1 aandoening |
| MPZmyelin protein zero | Altijd | In 4 aandoeningen |
| MRPS25mitochondrial ribosomal protein S25 | Altijd | In 1 aandoening |
| MSL2MSL complex subunit 2 | Altijd | In 1 aandoening |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Altijd | In 1 aandoening |
| MYH3myosin heavy chain 3 | Altijd | In 1 aandoening |
| MYMKmyomaker, myoblast fusion factor | Altijd | In 1 aandoening |
| MYOD1myogenic differentiation 1 | Altijd | In 1 aandoening |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Altijd | In 1 aandoening |
| NALCNsodium leak channel, non-selective | Altijd | In 2 aandoeningen |
| NDRG1N-myc downstream regulated 1 | Altijd | In 2 aandoeningen |
| NDUFA12NADH:ubiquinone oxidoreductase subunit A12 | Altijd | In 1 aandoening |
| NIPBLNIPBL cohesin loading factor | Altijd | In 1 aandoening |
| NKX2-1NK2 homeobox 1 | Altijd | In 3 aandoeningen |
| NKX6-2NK6 homeobox 2 | Altijd | In 1 aandoening |
| NOVA2NOVA alternative splicing regulator 2 | Altijd | In 1 aandoening |
| NRAPnebulin related anchoring protein | Altijd | In 1 aandoening |
| NT5C25'-nucleotidase, cytosolic II | Altijd | In 2 aandoeningen |
| NTNG2netrin G2 | Altijd | In 1 aandoening |
| NUDT2nudix hydrolase 2 | Altijd | In 1 aandoening |
| NUP54nucleoporin 54 | Altijd | In 1 aandoening |
| OFD1OFD1 centriole and centriolar satellite protein | Altijd | In 1 aandoening |
| PAK1p21 (RAC1) activated kinase 1 | Altijd | In 1 aandoening |
| PET117PET117 cytochrome c oxidase chaperone | Altijd | In 1 aandoening |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Altijd | In 1 aandoening |
| PGAP2post-GPI attachment to proteins 2 | Altijd | In 1 aandoening |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Altijd | In 1 aandoening |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Altijd | In 1 aandoening |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Altijd | In 1 aandoening |
| PMP22peripheral myelin protein 22 | Altijd | In 2 aandoeningen |
| POLR1ARNA polymerase I subunit A | Altijd | In 1 aandoening |
| POLR3GLRNA polymerase III subunit GL | Altijd | In 1 aandoening |
| POMKprotein O-mannose kinase | Altijd | In 1 aandoening |
| PPIL1peptidylprolyl isomerase like 1 | Altijd | In 1 aandoening |
| PRDM13PR/SET domain 13 | Altijd | In 2 aandoeningen |
| PRR12proline rich 12 | Altijd | In 1 aandoening |
| PRXperiaxin | Altijd | In 2 aandoeningen |
| PSMB1proteasome 20S subunit beta 1 | Altijd | In 1 aandoening |
| PSMG2proteasome assembly chaperone 2 | Altijd | In 1 aandoening |
| PTBP1polypyrimidine tract binding protein 1 | Altijd | In 1 aandoening |
| PTH1Rparathyroid hormone 1 receptor | Altijd | In 1 aandoening |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Altijd | In 1 aandoening |
| PTRH2peptidyl-tRNA hydrolase 2 | Altijd | In 2 aandoeningen |
| PYCR1pyrroline-5-carboxylate reductase 1 | Altijd | In 1 aandoening |
| RALGAPA1Ral GTPase activating protein catalytic subunit alpha 1 | Altijd | In 1 aandoening |
| RAP1GDS1Rap1 GTPase-GDP dissociation stimulator 1 | Altijd | In 1 aandoening |
| RBSNrabenosyn, RAB effector | Altijd | In 1 aandoening |
| RNU4-2RNA, U4 small nuclear 2 | Altijd | In 1 aandoening |
| RSPRY1ring finger and SPRY domain containing 1 | Altijd | In 2 aandoeningen |
| RSRC1arginine and serine rich coiled-coil 1 | Altijd | In 1 aandoening |
| RTN2reticulon 2 | Altijd | In 1 aandoening |
| RUBCNrubicon autophagy regulator | Altijd | In 1 aandoening |
| RYR1ryanodine receptor 1 | Altijd | In 8 aandoeningen |
| SCN11Asodium voltage-gated channel alpha subunit 11 | Altijd | In 1 aandoening |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Altijd | In 3 aandoeningen |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Altijd | In 1 aandoening |
| SELENOIselenoprotein I | Altijd | In 1 aandoening |
| SERPINF1serpin family F member 1 | Altijd | In 1 aandoening |
| SLC12A6solute carrier family 12 member 6 | Altijd | In 2 aandoeningen |
| SLC25A42solute carrier family 25 member 42 | Altijd | In 1 aandoening |
| SLC32A1solute carrier family 32 member 1 | Altijd | In 1 aandoening |
| SLC5A7solute carrier family 5 member 7 | Altijd | In 1 aandoening |
| SLC9A1solute carrier family 9 member A1 | Altijd | In 1 aandoening |
| SOX5SRY-box transcription factor 5 | Altijd | In 1 aandoening |
| SP7Sp7 transcription factor | Altijd | In 1 aandoening |
| SPARTspartin | Altijd | In 2 aandoeningen |
| SPEGstriated muscle enriched protein kinase | Altijd | In 2 aandoeningen |
| SPOPspeckle type BTB/POZ protein | Altijd | In 2 aandoeningen |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Altijd | In 2 aandoeningen |
| SPTBN2spectrin beta, non-erythrocytic 2 | Altijd | In 1 aandoening |
| SPTBN4spectrin beta, non-erythrocytic 4 | Altijd | In 1 aandoening |
| SRD5A3steroid 5 alpha-reductase 3 | Altijd | In 2 aandoeningen |
| STAC3SH3 and cysteine rich domain 3 | Altijd | In 2 aandoeningen |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Altijd | In 1 aandoening |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Altijd | In 1 aandoening |
| SUPT7LSPT7 like, STAGA complex subunit gamma | Altijd | In 1 aandoening |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Altijd | In 1 aandoening |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Altijd | In 1 aandoening |
| TANGO2transport and golgi organization 2 homolog | Altijd | In 1 aandoening |
| TBK1TANK binding kinase 1 | Altijd | In 1 aandoening |
| TCF20transcription factor 20 | Altijd | In 1 aandoening |
| THG1LtRNA-histidine guanylyltransferase 1 like | Altijd | In 1 aandoening |
| TLK2tousled like kinase 2 | Altijd | In 1 aandoening |
| TMEM107transmembrane protein 107 | Altijd | In 1 aandoening |
| TMEM147transmembrane protein 147 | Altijd | In 1 aandoening |
| TMEM222transmembrane protein 222 | Altijd | In 1 aandoening |
| TNRtenascin R | Altijd | In 1 aandoening |
| TOR1Atorsin family 1 member A | Altijd | In 1 aandoening |
| TPM2tropomyosin 2 | Altijd | In 4 aandoeningen |
| TRIOtrio Rho guanine nucleotide exchange factor | Altijd | In 1 aandoening |
| TRIP4thyroid hormone receptor interactor 4 | Altijd | In 2 aandoeningen |
| TTNtitin | Altijd | In 2 aandoeningen |
| TUBA4Atubulin alpha 4a | Altijd | In 1 aandoening |
| TUBB2Btubulin beta 2B class IIb | Altijd | In 1 aandoening |
| UBA2ubiquitin like modifier activating enzyme 2 | Altijd | In 1 aandoening |
| UBAP2Lubiquitin associated protein 2 like | Altijd | In 1 aandoening |
| UBE3Aubiquitin protein ligase E3A | Altijd | In 1 aandoening |
| UBE3Bubiquitin protein ligase E3B | Altijd | In 1 aandoening |
| UBE3Cubiquitin protein ligase E3C | Altijd | In 1 aandoening |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Altijd | In 1 aandoening |
| UNC13Aunc-13 homolog A | Altijd | In 2 aandoeningen |
| UQCRFS1ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 | Altijd | In 1 aandoening |
| VAMP1vesicle associated membrane protein 1 | Altijd | In 1 aandoening |
| VARS1valyl-tRNA synthetase 1 | Altijd | In 1 aandoening |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Altijd | In 1 aandoening |
| VPS4Avacuolar protein sorting 4 homolog A | Altijd | In 1 aandoening |
| VRK1VRK serine/threonine kinase 1 | Altijd | In 3 aandoeningen |
| WBP4WW domain binding protein 4 | Altijd | In 1 aandoening |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Altijd | In 1 aandoening |
| YME1L1YME1 like 1 ATPase | Altijd | In 1 aandoening |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Altijd | In 1 aandoening |
| YY1YY1 transcription factor | Altijd | In 1 aandoening |
| ZMYND11zinc finger MYND-type containing 11 | Altijd | In 1 aandoening |
| ZSCAN10zinc finger and SCAN domain containing 10 | Altijd | In 1 aandoening |
| ZSWIM6zinc finger SWIM-type containing 6 | Altijd | In 1 aandoening |
| ADGRG1adhesion G protein-coupled receptor G1 | Heel vaak (80–99%) | In 1 aandoening |
| AGO1argonaute RISC component 1 | Heel vaak (80–99%) | In 1 aandoening |
| ARPC4actin related protein 2/3 complex subunit 4 | Heel vaak (80–99%) | In 1 aandoening |
| ASPAaspartoacylase | Heel vaak (80–99%) | In 2 aandoeningen |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Heel vaak (80–99%) | In 2 aandoeningen |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Heel vaak (80–99%) | In 1 aandoening |
| BCL11BBCL11 transcription factor B | Heel vaak (80–99%) | In 1 aandoening |
| BPTFbromodomain PHD finger transcription factor | Heel vaak (80–99%) | In 1 aandoening |
| CHD8chromodomain helicase DNA binding protein 8 | Heel vaak (80–99%) | In 1 aandoening |
| CILK1ciliogenesis associated kinase 1 | Heel vaak (80–99%) | In 1 aandoening |
| COG4component of oligomeric golgi complex 4 | Heel vaak (80–99%) | In 1 aandoening |
| COL1A1collagen type I alpha 1 chain | Heel vaak (80–99%) | In 2 aandoeningen |
| COL1A2collagen type I alpha 2 chain | Heel vaak (80–99%) | In 1 aandoening |
| CTNNB1catenin beta 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| CYP27B1cytochrome P450 family 27 subfamily B member 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| CYP2R1cytochrome P450 family 2 subfamily R member 1 | Heel vaak (80–99%) | In 1 aandoening |
| DLK1delta like non-canonical Notch ligand 1 | Heel vaak (80–99%) | In 3 aandoeningen |
| DMDdystrophin | Heel vaak (80–99%) | In 1 aandoening |
| EBF3EBF transcription factor 3 | Heel vaak (80–99%) | In 1 aandoening |
| EXOSC3exosome component 3 | Heel vaak (80–99%) | In 1 aandoening |
| EXOSC8exosome component 8 | Heel vaak (80–99%) | In 1 aandoening |
| EXOSC9exosome component 9 | Heel vaak (80–99%) | In 1 aandoening |
| EXTL3exostosin like glycosyltransferase 3 | Heel vaak (80–99%) | In 2 aandoeningen |
| FBXW11F-box and WD repeat domain containing 11 | Heel vaak (80–99%) | In 1 aandoening |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Heel vaak (80–99%) | In 1 aandoening |
| HDAC4histone deacetylase 4 | Heel vaak (80–99%) | In 1 aandoening |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Heel vaak (80–99%) | In 1 aandoening |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Heel vaak (80–99%) | In 1 aandoening |
| INPP5Kinositol polyphosphate-5-phosphatase K | Heel vaak (80–99%) | In 1 aandoening |
| KCNN2potassium calcium-activated channel subfamily N member 2 | Heel vaak (80–99%) | In 1 aandoening |
| KDM2Blysine demethylase 2B | Heel vaak (80–99%) | In 1 aandoening |
| KDM3Blysine demethylase 3B | Heel vaak (80–99%) | In 1 aandoening |
| KDM6Blysine demethylase 6B | Heel vaak (80–99%) | In 1 aandoening |
| LMBRD2LMBR1 domain containing 2 | Heel vaak (80–99%) | In 1 aandoening |
| LMX1BLIM homeobox transcription factor 1 beta | Heel vaak (80–99%) | In 1 aandoening |
| LONP1lon peptidase 1, mitochondrial | Heel vaak (80–99%) | In 1 aandoening |
| LTBP4latent transforming growth factor beta binding protein 4 | Heel vaak (80–99%) | In 1 aandoening |
| MAGEL2MAGE family member L2 | Heel vaak (80–99%) | In 2 aandoeningen |
| MED13Lmediator complex subunit 13L | Heel vaak (80–99%) | In 2 aandoeningen |
| MED27mediator complex subunit 27 | Heel vaak (80–99%) | In 1 aandoening |
| MEG3maternally expressed 3 | Heel vaak (80–99%) | In 3 aandoeningen |
| MKRN3makorin ring finger protein 3 | Heel vaak (80–99%) | In 1 aandoening |
| MN1MN1 proto-oncogene, transcriptional regulator | Heel vaak (80–99%) | In 1 aandoening |
| NAA15N-alpha-acetyltransferase 15, NatA auxiliary subunit | Heel vaak (80–99%) | In 1 aandoening |
| NPAP1nuclear pore associated protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| PPFIBP1PPFIB scaffold protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| PWAR1Prader Willi/Angelman region RNA 1 | Heel vaak (80–99%) | In 1 aandoening |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Heel vaak (80–99%) | In 1 aandoening |
| QRICH1glutamine rich 1 | Heel vaak (80–99%) | In 1 aandoening |
| RFX7regulatory factor X7 | Heel vaak (80–99%) | In 1 aandoening |
| RMP64ribonuclease MRP subunit p64 | Heel vaak (80–99%) | In 1 aandoening |
| RNU2-2RNA, U2 small nuclear 2 | Heel vaak (80–99%) | In 1 aandoening |
| RTL1retrotransposon Gag like 1 | Heel vaak (80–99%) | In 3 aandoeningen |
| SATB1SATB homeobox 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Heel vaak (80–99%) | In 1 aandoening |
| SETBP1SET binding protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Heel vaak (80–99%) | In 1 aandoening |
| SH3PXD2BSH3 and PX domains 2B | Heel vaak (80–99%) | In 1 aandoening |
| SIAH1siah E3 ubiquitin protein ligase 1 | Heel vaak (80–99%) | In 1 aandoening |
| SIM1SIM bHLH transcription factor 1 | Heel vaak (80–99%) | In 1 aandoening |
| SLC25A46solute carrier family 25 member 46 | Heel vaak (80–99%) | In 1 aandoening |
| SLC6A1solute carrier family 6 member 1 | Heel vaak (80–99%) | In 1 aandoening |
| SLC6A11solute carrier family 6 member 11 | Heel vaak (80–99%) | In 1 aandoening |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Heel vaak (80–99%) | In 1 aandoening |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Heel vaak (80–99%) | In 1 aandoening |
| SNUPNsnurportin 1 | Heel vaak (80–99%) | In 1 aandoening |
| SPG21SPG21 abhydrolase domain containing, maspardin | Heel vaak (80–99%) | In 1 aandoening |
| SPTBN1spectrin beta, non-erythrocytic 1 | Heel vaak (80–99%) | In 1 aandoening |
| SRPK3SRSF protein kinase 3 | Heel vaak (80–99%) | In 1 aandoening |
| STXBP1syntaxin binding protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| SYT1synaptotagmin 1 | Heel vaak (80–99%) | In 1 aandoening |
| TBCBtubulin folding cofactor B | Heel vaak (80–99%) | In 1 aandoening |
| TBCKTBC1 domain containing kinase | Heel vaak (80–99%) | In 1 aandoening |
| TMEM94transmembrane protein 94 | Heel vaak (80–99%) | In 1 aandoening |
| TRIP12thyroid hormone receptor interactor 12 | Heel vaak (80–99%) | In 1 aandoening |
| VPS41VPS41 subunit of HOPS complex | Heel vaak (80–99%) | In 1 aandoening |
| WACWW domain containing adaptor with coiled-coil | Heel vaak (80–99%) | In 2 aandoeningen |
| WDR73WD repeat domain 73 | Heel vaak (80–99%) | In 1 aandoening |
| WWOXWW domain containing oxidoreductase | Heel vaak (80–99%) | In 1 aandoening |
| ZBTB24zinc finger and BTB domain containing 24 | Heel vaak (80–99%) | In 1 aandoening |
| ZBTB7Azinc finger and BTB domain containing 7A | Heel vaak (80–99%) | In 1 aandoening |
| ZNF592zinc finger protein 592 | Heel vaak (80–99%) | In 1 aandoening |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Vaak (30–79%) | In 1 aandoening |
| ACTA1actin alpha 1, skeletal muscle | Vaak (30–79%) | In 6 aandoeningen |
| ADA2adenosine deaminase 2 | Vaak (30–79%) | In 1 aandoening |
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Vaak (30–79%) | In 2 aandoeningen |
| ADCY5adenylate cyclase 5 | Vaak (30–79%) | In 2 aandoeningen |
| AEBP1AE binding protein 1 | Vaak (30–79%) | In 2 aandoeningen |
| AGKacylglycerol kinase | Vaak (30–79%) | In 1 aandoening |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Vaak (30–79%) | In 2 aandoeningen |
| ALDH5A1aldehyde dehydrogenase 5 family member A1 | Vaak (30–79%) | In 1 aandoening |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Vaak (30–79%) | In 1 aandoening |
| ALPK3alpha kinase 3 | Vaak (30–79%) | In 1 aandoening |
| ANKRD17ankyrin repeat domain 17 | Vaak (30–79%) | In 1 aandoening |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Vaak (30–79%) | In 1 aandoening |
| ATP5F1AATP synthase F1 subunit alpha | Vaak (30–79%) | In 1 aandoening |
| ATP5F1DATP synthase F1 subunit delta | Vaak (30–79%) | In 1 aandoening |
| ATP5F1EATP synthase F1 subunit epsilon | Vaak (30–79%) | In 1 aandoening |
| ATP5MKATP synthase membrane subunit k | Vaak (30–79%) | In 1 aandoening |
| ATP5POATP synthase peripheral stalk subunit OSCP | Vaak (30–79%) | In 1 aandoening |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Vaak (30–79%) | In 2 aandoeningen |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Vaak (30–79%) | In 1 aandoening |
| ATRXATRX chromatin remodeler | Vaak (30–79%) | In 1 aandoening |
| ATXN7ataxin 7 | Vaak (30–79%) | In 1 aandoening |
| ATXN7L3ataxin 7 like 3 | Vaak (30–79%) | In 1 aandoening |
| AXIN1axin 1 | Vaak (30–79%) | In 1 aandoening |
| B3GALT6beta-1,3-galactosyltransferase 6 | Vaak (30–79%) | In 2 aandoeningen |
| B4GALT7beta-1,4-galactosyltransferase 7 | Vaak (30–79%) | In 1 aandoening |
| BAP1BRCA1 associated deubiquitinase 1 | Vaak (30–79%) | In 1 aandoening |
| BICD2BICD cargo adaptor 2 | Vaak (30–79%) | In 3 aandoeningen |
| BIN1bridging integrator 1 | Vaak (30–79%) | In 2 aandoeningen |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Vaak (30–79%) | In 1 aandoening |
| BSNDbarttin CLCNK type accessory subunit beta | Vaak (30–79%) | In 2 aandoeningen |
| CACHD1cache domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Vaak (30–79%) | In 1 aandoening |
| CCDC78coiled-coil domain containing 78 | Vaak (30–79%) | In 1 aandoening |
| CDCA7cell division cycle associated 7 | Vaak (30–79%) | In 1 aandoening |
| CDH23cadherin related 23 | Vaak (30–79%) | In 1 aandoening |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Vaak (30–79%) | In 1 aandoening |
| CFAP20cilia and flagella associated protein 20 | Vaak (30–79%) | In 1 aandoening |
| CHD5chromodomain helicase DNA binding protein 5 | Vaak (30–79%) | In 1 aandoening |
| CLCNKAchloride voltage-gated channel Ka | Vaak (30–79%) | In 2 aandoeningen |
| CLCNKBchloride voltage-gated channel Kb | Vaak (30–79%) | In 2 aandoeningen |
| CNTNAP2contactin associated protein 2 | Vaak (30–79%) | In 1 aandoening |
| COA8cytochrome c oxidase assembly factor 8 | Vaak (30–79%) | In 1 aandoening |
| COG3component of oligomeric golgi complex 3 | Vaak (30–79%) | In 1 aandoening |
| COL13A1collagen type XIII alpha 1 chain | Vaak (30–79%) | In 1 aandoening |
| COL6A3collagen type VI alpha 3 chain | Vaak (30–79%) | In 1 aandoening |
| COQ4coenzyme Q4 | Vaak (30–79%) | In 1 aandoening |
| COXFA4cytochrome c oxidase associated subunit FA4 | Vaak (30–79%) | In 1 aandoening |
| CPSF3cleavage and polyadenylation specific factor 3 | Vaak (30–79%) | In 1 aandoening |
| CREBBPCREB binding lysine acetyltransferase | Vaak (30–79%) | In 1 aandoening |
| CRPPACDP-L-ribitol pyrophosphorylase A | Vaak (30–79%) | In 1 aandoening |
| CUX1cut like homeobox 1 | Vaak (30–79%) | In 1 aandoening |
| DAG1dystroglycan 1 | Vaak (30–79%) | In 1 aandoening |
| DARS1aspartyl-tRNA synthetase 1 | Vaak (30–79%) | In 1 aandoening |
| DDCdopa decarboxylase | Vaak (30–79%) | In 1 aandoening |
| DDR2discoidin domain receptor tyrosine kinase 2 | Vaak (30–79%) | In 1 aandoening |
| DLATdihydrolipoamide S-acetyltransferase | Vaak (30–79%) | In 1 aandoening |
| DONSONDNA replication fork stabilization factor DONSON | Vaak (30–79%) | In 1 aandoening |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Vaak (30–79%) | In 2 aandoeningen |
| DPF2double PHD fingers 2 | Vaak (30–79%) | In 1 aandoening |
| DYMdymeclin | Vaak (30–79%) | In 1 aandoening |
| DYNC1H1dynein cytoplasmic 1 heavy chain 1 | Vaak (30–79%) | In 1 aandoening |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Vaak (30–79%) | In 1 aandoening |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Vaak (30–79%) | In 1 aandoening |
| ERFETS2 repressor factor | Vaak (30–79%) | In 1 aandoening |
| ESPNespin | Vaak (30–79%) | In 1 aandoening |
| FBLN1fibulin 1 | Vaak (30–79%) | In 1 aandoening |
| FBLN5fibulin 5 | Vaak (30–79%) | In 2 aandoeningen |
| FILIP1filamin A interacting protein 1 | Vaak (30–79%) | In 1 aandoening |
| FKRPfukutin related protein | Vaak (30–79%) | In 5 aandoeningen |
| FRA10AC1FRA10A associated CGG repeat 1 | Vaak (30–79%) | In 1 aandoening |
| GAAalpha glucosidase | Vaak (30–79%) | In 1 aandoening |
| GABBR1gamma-aminobutyric acid type B receptor subunit 1 | Vaak (30–79%) | In 1 aandoening |
| GALCgalactosylceramidase | Vaak (30–79%) | In 1 aandoening |
| GCKglucokinase | Vaak (30–79%) | In 1 aandoening |
| GDAP1ganglioside induced differentiation associated protein 1 | Vaak (30–79%) | In 4 aandoeningen |
| GHRgrowth hormone receptor | Vaak (30–79%) | In 1 aandoening |
| GJB1gap junction protein beta 1 | Vaak (30–79%) | In 2 aandoeningen |
| GMNNgeminin DNA replication inhibitor | Vaak (30–79%) | In 1 aandoening |
| GMPPBGDP-mannose pyrophosphorylase B | Vaak (30–79%) | In 4 aandoeningen |
| GNB5G protein subunit beta 5 | Vaak (30–79%) | In 1 aandoening |
| GPC3glypican 3 | Vaak (30–79%) | In 1 aandoening |
| GPRC5BG protein-coupled receptor class C group 5 member B | Vaak (30–79%) | In 1 aandoening |
| GPSM2G protein signaling modulator 2 | Vaak (30–79%) | In 1 aandoening |
| GRB10growth factor receptor bound protein 10 | Vaak (30–79%) | In 1 aandoening |
| GRIA1glutamate ionotropic receptor AMPA type subunit 1 | Vaak (30–79%) | In 1 aandoening |
| HELLShelicase, lymphoid specific | Vaak (30–79%) | In 1 aandoening |
| HEPACAMhepatic and glial cell adhesion molecule | Vaak (30–79%) | In 4 aandoeningen |
| HMGA2high mobility group AT-hook 2 | Vaak (30–79%) | In 1 aandoening |
| IGF1Rinsulin like growth factor 1 receptor | Vaak (30–79%) | In 2 aandoeningen |
| IGF2insulin like growth factor 2 | Vaak (30–79%) | In 4 aandoeningen |
| IL6STinterleukin 6 cytokine family signal transducer | Vaak (30–79%) | In 1 aandoening |
| INPPL1inositol polyphosphate phosphatase like 1 | Vaak (30–79%) | In 1 aandoening |
| INSinsulin | Vaak (30–79%) | In 1 aandoening |
| KBTBD13kelch repeat and BTB domain containing 13 | Vaak (30–79%) | In 1 aandoening |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Vaak (30–79%) | In 2 aandoeningen |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Vaak (30–79%) | In 1 aandoening |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Vaak (30–79%) | In 1 aandoening |
| KDM6Alysine demethylase 6A | Vaak (30–79%) | In 1 aandoening |
| KLHL40kelch like family member 40 | Vaak (30–79%) | In 1 aandoening |
| KLHL41kelch like family member 41 | Vaak (30–79%) | In 4 aandoeningen |
| KMT2Blysine methyltransferase 2B | Vaak (30–79%) | In 1 aandoening |
| KMT2Dlysine methyltransferase 2D | Vaak (30–79%) | In 1 aandoening |
| KPTNkaptin, actin binding protein | Vaak (30–79%) | In 1 aandoening |
| KRASKRas proto-oncogene, GTPase | Vaak (30–79%) | In 1 aandoening |
| LAMB2laminin subunit beta 2 | Vaak (30–79%) | In 2 aandoeningen |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Vaak (30–79%) | In 2 aandoeningen |
| LMOD3leiomodin 3 | Vaak (30–79%) | In 1 aandoening |
| LTBP1latent transforming growth factor beta binding protein 1 | Vaak (30–79%) | In 1 aandoening |
| MAN2B1mannosidase alpha class 2B member 1 | Vaak (30–79%) | In 1 aandoening |
| MAP2K1mitogen-activated protein kinase kinase 1 | Vaak (30–79%) | In 1 aandoening |
| MAP2K2mitogen-activated protein kinase kinase 2 | Vaak (30–79%) | In 1 aandoening |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Vaak (30–79%) | In 2 aandoeningen |
| MARK2microtubule affinity regulating kinase 2 | Vaak (30–79%) | In 1 aandoening |
| MCM3APminichromosome maintenance complex component 3 associated protein | Vaak (30–79%) | In 1 aandoening |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Vaak (30–79%) | In 1 aandoening |
| MED12Lmediator complex subunit 12L | Vaak (30–79%) | In 1 aandoening |
| MPV17mitochondrial inner membrane protein MPV17 | Vaak (30–79%) | In 1 aandoening |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Vaak (30–79%) | In 2 aandoeningen |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Vaak (30–79%) | In 1 aandoening |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Vaak (30–79%) | In 1 aandoening |
| MTPAPmitochondrial poly(A) polymerase | Vaak (30–79%) | In 1 aandoening |
| MYL2myosin light chain 2 | Vaak (30–79%) | In 1 aandoening |
| MYO18Bmyosin XVIIIB | Vaak (30–79%) | In 1 aandoening |
| MYO7Amyosin VIIA | Vaak (30–79%) | In 2 aandoeningen |
| MYPNmyopalladin | Vaak (30–79%) | In 2 aandoeningen |
| MYT1Lmyelin transcription factor 1 like | Vaak (30–79%) | In 1 aandoening |
| NDUFA8NADH:ubiquinone oxidoreductase subunit A8 | Vaak (30–79%) | In 1 aandoening |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Vaak (30–79%) | In 1 aandoening |
| NEBnebulin | Vaak (30–79%) | In 4 aandoeningen |
| NEFLneurofilament light chain | Vaak (30–79%) | In 5 aandoeningen |
| NFIBnuclear factor I B | Vaak (30–79%) | In 1 aandoening |
| NFIXnuclear factor I X | Vaak (30–79%) | In 3 aandoeningen |
| NIPA1NIPA magnesium transporter 1 | Vaak (30–79%) | In 1 aandoening |
| NIPA2NIPA magnesium transporter 2 | Vaak (30–79%) | In 1 aandoening |
| NKX2-5NK2 homeobox 5 | Vaak (30–79%) | In 1 aandoening |
| NKX3-2NK3 homeobox 2 | Vaak (30–79%) | In 1 aandoening |
| NOTCH3notch receptor 3 | Vaak (30–79%) | In 2 aandoeningen |
| NRASNRAS proto-oncogene, GTPase | Vaak (30–79%) | In 1 aandoening |
| NRCAMneuronal cell adhesion molecule | Vaak (30–79%) | In 1 aandoening |
| NSD1nuclear receptor binding SET domain protein 1 | Vaak (30–79%) | In 2 aandoeningen |
| NSUN6NOP2/Sun RNA methyltransferase 6 | Vaak (30–79%) | In 1 aandoening |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Vaak (30–79%) | In 1 aandoening |
| OGDHoxoglutarate dehydrogenase | Vaak (30–79%) | In 1 aandoening |
| PACSIN3protein kinase C and casein kinase substrate in neurons 3 | Vaak (30–79%) | In 1 aandoening |
| PCDH15protocadherin related 15 | Vaak (30–79%) | In 2 aandoeningen |
| PCDH19protocadherin 19 | Vaak (30–79%) | In 1 aandoening |
| PDE10Aphosphodiesterase 10A | Vaak (30–79%) | In 2 aandoeningen |
| PDX1pancreatic and duodenal homeobox 1 | Vaak (30–79%) | In 1 aandoening |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Vaak (30–79%) | In 1 aandoening |
| PLAG1PLAG1 zinc finger | Vaak (30–79%) | In 1 aandoening |
| PLECplectin | Vaak (30–79%) | In 2 aandoeningen |
| PLPBPpyridoxal phosphate binding protein | Vaak (30–79%) | In 1 aandoening |
| PLXND1plexin D1 | Vaak (30–79%) | In 1 aandoening |
| PNPLA2patatin like domain 2, triacylglycerol lipase | Vaak (30–79%) | In 1 aandoening |
| POGZpogo transposable element derived with ZNF domain | Vaak (30–79%) | In 1 aandoening |
| POLD3DNA polymerase delta 3, accessory subunit | Vaak (30–79%) | In 1 aandoening |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Vaak (30–79%) | In 1 aandoening |
| POMT1protein O-mannosyltransferase 1 | Vaak (30–79%) | In 3 aandoeningen |
| POMT2protein O-mannosyltransferase 2 | Vaak (30–79%) | In 3 aandoeningen |
| PPP1R13Lprotein phosphatase 1 regulatory subunit 13 like | Vaak (30–79%) | In 1 aandoening |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Vaak (30–79%) | In 3 aandoeningen |
| PSMC3proteasome 26S subunit, ATPase 3 | Vaak (30–79%) | In 1 aandoening |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Vaak (30–79%) | In 1 aandoening |
| PTENphosphatase and tensin homolog | Vaak (30–79%) | In 2 aandoeningen |
| PURApurine rich element binding protein A | Vaak (30–79%) | In 1 aandoening |
| PUS7pseudouridine synthase 7 | Vaak (30–79%) | In 1 aandoening |
| RAC1Rac family small GTPase 1 | Vaak (30–79%) | In 1 aandoening |
| RAI1retinoic acid induced 1 | Vaak (30–79%) | In 1 aandoening |
| RAP1BRAP1B, member of RAS oncogene family | Vaak (30–79%) | In 1 aandoening |
| REPS1RALBP1 associated Eps domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| REV3LREV3 like, DNA directed polymerase zeta catalytic subunit | Vaak (30–79%) | In 1 aandoening |
| RNF170ring finger protein 170 | Vaak (30–79%) | In 1 aandoening |
| RNF220ring finger protein 220 | Vaak (30–79%) | In 1 aandoening |
| RPS23ribosomal protein S23 | Vaak (30–79%) | In 1 aandoening |
| RUSC2RUN and SH3 domain containing 2 | Vaak (30–79%) | In 1 aandoening |
| SCO2synthesis of cytochrome C oxidase 2 | Vaak (30–79%) | In 2 aandoeningen |
| SCYL1SCY1 like pseudokinase 1 | Vaak (30–79%) | In 1 aandoening |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Vaak (30–79%) | In 1 aandoening |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Vaak (30–79%) | In 1 aandoening |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Vaak (30–79%) | In 1 aandoening |
| SDHDsuccinate dehydrogenase complex subunit D | Vaak (30–79%) | In 1 aandoening |
| SELENONselenoprotein N | Vaak (30–79%) | In 2 aandoeningen |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Vaak (30–79%) | In 1 aandoening |
| SH2B1SH2B adaptor protein 1 | Vaak (30–79%) | In 1 aandoening |
| SIN3ASIN3 transcription regulator family member A | Vaak (30–79%) | In 1 aandoening |
| SLC1A4solute carrier family 1 member 4 | Vaak (30–79%) | In 1 aandoening |
| SLC25A15solute carrier family 25 member 15 | Vaak (30–79%) | In 1 aandoening |
| SLC37A4solute carrier family 37 member 4 | Vaak (30–79%) | In 1 aandoening |
| SLC39A13solute carrier family 39 member 13 | Vaak (30–79%) | In 1 aandoening |
| SMC5structural maintenance of chromosomes 5 | Vaak (30–79%) | In 1 aandoening |
| SMPD1sphingomyelin phosphodiesterase 1 | Vaak (30–79%) | In 1 aandoening |
| SPRsepiapterin reductase | Vaak (30–79%) | In 1 aandoening |
| SRSF1serine and arginine rich splicing factor 1 | Vaak (30–79%) | In 1 aandoening |
| STAT3signal transducer and activator of transcription 3 | Vaak (30–79%) | In 1 aandoening |
| STT3ASTT3 oligosaccharyltransferase complex catalytic subunit A | Vaak (30–79%) | In 1 aandoening |
| SVBPsmall vasohibin binding protein | Vaak (30–79%) | In 1 aandoening |
| TANC2tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 | Vaak (30–79%) | In 1 aandoening |
| TAOK1TAO kinase 1 | Vaak (30–79%) | In 1 aandoening |
| THtyrosine hydroxylase | Vaak (30–79%) | In 2 aandoeningen |
| TNNC2troponin C2, fast skeletal type | Vaak (30–79%) | In 1 aandoening |
| TNNT1troponin T1, slow skeletal type | Vaak (30–79%) | In 2 aandoeningen |
| TPM3tropomyosin 3 | Vaak (30–79%) | In 5 aandoeningen |
| TRAF7TNF receptor associated factor 7 | Vaak (30–79%) | In 1 aandoening |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Vaak (30–79%) | In 1 aandoening |
| TSEN15tRNA splicing endonuclease subunit 15 | Vaak (30–79%) | In 1 aandoening |
| TSEN2tRNA splicing endonuclease subunit 2 | Vaak (30–79%) | In 1 aandoening |
| TSEN34tRNA splicing endonuclease subunit 34 | Vaak (30–79%) | In 1 aandoening |
| TSEN54tRNA splicing endonuclease subunit 54 | Vaak (30–79%) | In 1 aandoening |
| TSHBthyroid stimulating hormone subunit beta | Vaak (30–79%) | In 1 aandoening |
| TSHRthyroid stimulating hormone receptor | Vaak (30–79%) | In 3 aandoeningen |
| TSPOAP1TSPO associated protein 1 | Vaak (30–79%) | In 1 aandoening |
| TUBB4Atubulin beta 4A class IVa | Vaak (30–79%) | In 1 aandoening |
| TUBG1tubulin gamma 1 | Vaak (30–79%) | In 1 aandoening |
| USH1CUSH1 protein network component harmonin | Vaak (30–79%) | In 2 aandoeningen |
| USH1GUSH1 protein network component sans | Vaak (30–79%) | In 1 aandoening |
| YARS2tyrosyl-tRNA synthetase 2 | Vaak (30–79%) | In 1 aandoening |
| ZMIZ1zinc finger MIZ-type containing 1 | Vaak (30–79%) | In 1 aandoening |
| ZMYM3zinc finger MYM-type containing 3 | Vaak (30–79%) | In 1 aandoening |
| ZNF462zinc finger protein 462 | Vaak (30–79%) | In 1 aandoening |
| ZNF711ZFX family zinc finger ZNF711 | Vaak (30–79%) | In 1 aandoening |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Vaak (30–79%) | In 1 aandoening |
| ABCA12ATP binding cassette subfamily A member 12 | Soms (5–29%) | In 1 aandoening |
| ACAT1acetyl-CoA acetyltransferase 1 | Soms (5–29%) | In 1 aandoening |
| ACP5acid phosphatase 5, tartrate resistant | Soms (5–29%) | In 1 aandoening |
| ADAMTSL2ADAMTS like 2 | Soms (5–29%) | In 1 aandoening |
| ADNPactivity dependent neuroprotector homeobox | Soms (5–29%) | In 1 aandoening |
| AGR2anterior gradient 2, protein disulphide isomerase family member | Soms (5–29%) | In 1 aandoening |
| AIPL1AIP like 1 HSP90 co-chaperone | Soms (5–29%) | In 1 aandoening |
| ALDOAaldolase, fructose-bisphosphate A | Soms (5–29%) | In 1 aandoening |
| ALMS1ALMS1 centrosome and basal body associated protein | Soms (5–29%) | In 1 aandoening |
| ASLargininosuccinate lyase | Soms (5–29%) | In 1 aandoening |
| ATL1atlastin GTPase 1 | Soms (5–29%) | In 2 aandoeningen |
| BMPR1Abone morphogenetic protein receptor type 1A | Soms (5–29%) | In 1 aandoening |
| CABP4calcium binding protein 4 | Soms (5–29%) | In 1 aandoening |
| CEP290centrosomal protein 290 | Soms (5–29%) | In 1 aandoening |
| COL2A1collagen type II alpha 1 chain | Soms (5–29%) | In 2 aandoeningen |
| COL5A1collagen type V alpha 1 chain | Soms (5–29%) | In 1 aandoening |
| COL5A2collagen type V alpha 2 chain | Soms (5–29%) | In 1 aandoening |
| CRB1crumbs cell polarity complex component 1 | Soms (5–29%) | In 1 aandoening |
| CRXcone-rod homeobox | Soms (5–29%) | In 1 aandoening |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Soms (5–29%) | In 2 aandoeningen |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Soms (5–29%) | In 1 aandoening |
| DOLKdolichol kinase | Soms (5–29%) | In 1 aandoening |
| EHMT1euchromatic histone lysine methyltransferase 1 | Soms (5–29%) | In 1 aandoening |
| ELNelastin | Soms (5–29%) | In 1 aandoening |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| FIG4FIG4 phosphoinositide 5-phosphatase | Soms (5–29%) | In 1 aandoening |
| FLGfilaggrin | Soms (5–29%) | In 1 aandoening |
| FZD4frizzled class receptor 4 | Soms (5–29%) | In 1 aandoening |
| GALK1galactokinase 1 | Soms (5–29%) | In 1 aandoening |
| GBF1golgi brefeldin A resistant guanine nucleotide exchange factor 1 | Soms (5–29%) | In 1 aandoening |
| GDF6growth differentiation factor 6 | Soms (5–29%) | In 1 aandoening |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Soms (5–29%) | In 1 aandoening |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Soms (5–29%) | In 1 aandoening |
| GRM1glutamate metabotropic receptor 1 | Soms (5–29%) | In 1 aandoening |
| GUCY2Dguanylate cyclase 2D, retinal | Soms (5–29%) | In 1 aandoening |
| H19H19 imprinted maternally expressed transcript | Soms (5–29%) | In 2 aandoeningen |
| H4C5H4 clustered histone 5 | Soms (5–29%) | In 1 aandoening |
| HADHhydroxyacyl-CoA dehydrogenase | Soms (5–29%) | In 1 aandoening |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Soms (5–29%) | In 1 aandoening |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Soms (5–29%) | In 1 aandoening |
| HNMThistamine N-methyltransferase | Soms (5–29%) | In 1 aandoening |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Soms (5–29%) | In 1 aandoening |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Soms (5–29%) | In 1 aandoening |
| IFT140intraflagellar transport 140 | Soms (5–29%) | In 1 aandoening |
| IMPDH1inosine monophosphate dehydrogenase 1 | Soms (5–29%) | In 1 aandoening |
| IQCB1IQ motif containing B1 | Soms (5–29%) | In 1 aandoening |
| IVDisovaleryl-CoA dehydrogenase | Soms (5–29%) | In 1 aandoening |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Soms (5–29%) | In 1 aandoening |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Soms (5–29%) | In 1 aandoening |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Soms (5–29%) | In 1 aandoening |
| KMT2Clysine methyltransferase 2C | Soms (5–29%) | In 1 aandoening |
| LAMP2lysosome associated membrane protein 2 | Soms (5–29%) | In 1 aandoening |
| LARS2leucyl-tRNA synthetase 2, mitochondrial | Soms (5–29%) | In 1 aandoening |
| LCA5lebercilin LCA5 | Soms (5–29%) | In 1 aandoening |
| LRATlecithin retinol acyltransferase | Soms (5–29%) | In 1 aandoening |
| LRP5LDL receptor related protein 5 | Soms (5–29%) | In 1 aandoening |
| MAOAmonoamine oxidase A | Soms (5–29%) | In 1 aandoening |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Soms (5–29%) | In 1 aandoening |
| MORC2MORC family CW-type zinc finger 2 | Soms (5–29%) | In 1 aandoening |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Soms (5–29%) | In 1 aandoening |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Soms (5–29%) | In 1 aandoening |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Soms (5–29%) | In 1 aandoening |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | 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-TFmitochondrially encoded tRNA-Phe (UUU/C) | Soms (5–29%) | In 1 aandoening |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Soms (5–29%) | In 1 aandoening |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Soms (5–29%) | In 1 aandoening |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Soms (5–29%) | In 1 aandoening |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Soms (5–29%) | In 2 aandoeningen |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Soms (5–29%) | In 1 aandoening |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Soms (5–29%) | In 1 aandoening |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Soms (5–29%) | In 1 aandoening |
| NDPnorrin cystine knot growth factor NDP | Soms (5–29%) | In 1 aandoening |
| NEU1neuraminidase 1 | Soms (5–29%) | In 1 aandoening |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Soms (5–29%) | In 1 aandoening |
| ORC6origin recognition complex subunit 6 | Soms (5–29%) | In 1 aandoening |
| OTX2orthodenticle homeobox 2 | Soms (5–29%) | In 1 aandoening |
| PCBD1pterin-4 alpha-carbinolamine dehydratase 1 | Soms (5–29%) | In 1 aandoening |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Soms (5–29%) | In 1 aandoening |
| PDK3pyruvate dehydrogenase kinase 3 | Soms (5–29%) | In 1 aandoening |
| PGM1phosphoglucomutase 1 | Soms (5–29%) | In 1 aandoening |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Soms (5–29%) | In 1 aandoening |
| POLR1DRNA polymerase I and III subunit D | Soms (5–29%) | In 1 aandoening |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Soms (5–29%) | In 2 aandoeningen |
| PRKRAprotein activator of interferon induced protein kinase EIF2AK2 | Soms (5–29%) | In 2 aandoeningen |
| PRPH2peripherin 2 | Soms (5–29%) | In 1 aandoening |
| PTS6-pyruvoyltetrahydropterin synthase | Soms (5–29%) | In 1 aandoening |
| PYGLglycogen phosphorylase L | Soms (5–29%) | In 1 aandoening |
| RARS1arginyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| RCC1regulator of chromosome condensation 1 | Soms (5–29%) | In 1 aandoening |
| RD3RD3 regulator of GUCY2D | Soms (5–29%) | In 1 aandoening |
| RDH12retinol dehydrogenase 12 | Soms (5–29%) | In 1 aandoening |
| RECQL4RecQ like helicase 4 | Soms (5–29%) | In 1 aandoening |
| RNF125ring finger protein 125 | Soms (5–29%) | In 1 aandoening |
| RPE65retinoid isomerohydrolase RPE65 | Soms (5–29%) | In 1 aandoening |
| RPGRIP1RPGR interacting protein 1 | Soms (5–29%) | In 1 aandoening |
| RPS6KA3ribosomal protein S6 kinase A3 | Soms (5–29%) | In 1 aandoening |
| RRAS2RAS related 2 | Soms (5–29%) | In 1 aandoening |
| SARDHsarcosine dehydrogenase | Soms (5–29%) | In 1 aandoening |
| SBF2SET binding factor 2 | Soms (5–29%) | In 1 aandoening |
| SLC12A2solute carrier family 12 member 2 | Soms (5–29%) | In 1 aandoening |
| SPATA7spermatogenesis associated 7 | Soms (5–29%) | In 1 aandoening |
| SPENspen family transcriptional repressor | Soms (5–29%) | In 1 aandoening |
| STSsteroid sulfatase | Soms (5–29%) | In 1 aandoening |
| SYT2synaptotagmin 2 | Soms (5–29%) | In 1 aandoening |
| TMEM38Btransmembrane protein 38B | Soms (5–29%) | In 1 aandoening |
| TNFRSF11BTNF receptor superfamily member 11b | Soms (5–29%) | In 1 aandoening |
| TNPO3transportin 3 | Soms (5–29%) | In 1 aandoening |
| TRMT1tRNA methyltransferase 1 | Soms (5–29%) | In 1 aandoening |
| TSPAN12tetraspanin 12 | Soms (5–29%) | In 1 aandoening |
| TUBB4Btubulin beta 4B class IVb | Soms (5–29%) | In 1 aandoening |
| TULP1TUB like protein 1 | Soms (5–29%) | In 1 aandoening |
| UPB1beta-ureidopropionase 1 | Soms (5–29%) | In 1 aandoening |
| USP45ubiquitin specific peptidase 45 | Soms (5–29%) | In 1 aandoening |
| VMA21vacuolar ATPase assembly factor VMA21 | Soms (5–29%) | In 1 aandoening |
| VPS13Dvacuolar protein sorting 13 homolog D | Soms (5–29%) | In 1 aandoening |
| WDR62WD repeat domain 62 | Soms (5–29%) | In 1 aandoening |
| ZIC1Zic family zinc finger 1 | Soms (5–29%) | In 1 aandoening |
| ZIC4Zic family zinc finger 4 | Soms (5–29%) | In 1 aandoening |
| ZNF408zinc finger protein 408 | Soms (5–29%) | In 1 aandoening |
| ANTXR1ANTXR cell adhesion molecule 1 | Zelden (1–4%) | In 1 aandoening |
| COL3A1collagen type III alpha 1 chain | Zelden (1–4%) | In 1 aandoening |
| GBA1glucosylceramidase beta 1 | Zelden (1–4%) | In 2 aandoeningen |
| MYRFmyelin regulatory factor | Zelden (1–4%) | In 1 aandoening |
| NEK1NIMA related kinase 1 | Zelden (1–4%) | In 1 aandoening |
| SGMS2sphingomyelin synthase 2 | Zelden (1–4%) | In 1 aandoening |
| SPRED1sprouty related EVH1 domain containing 1 | Zelden (1–4%) | In 1 aandoening |
| AHCYadenosylhomocysteinase | Niet vastgelegd | In 1 aandoening |
| AHI1Abelson helper integration site 1 | Niet vastgelegd | In 1 aandoening |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Niet vastgelegd | In 1 aandoening |
| ANAPC7anaphase promoting complex subunit 7 | Niet vastgelegd | In 1 aandoening |
| APTXaprataxin | Niet vastgelegd | In 1 aandoening |
| ARCN1archain 1 coat protein complex I subunit delta | Niet vastgelegd | In 1 aandoening |
| ARHGEF2Rho/Rac guanine nucleotide exchange factor 2 | Niet vastgelegd | In 1 aandoening |
| ARID2AT-rich interaction domain 2 | Niet vastgelegd | In 1 aandoening |
| ASAH1N-acylsphingosine amidohydrolase 1 | Niet vastgelegd | In 1 aandoening |
| AUHAU RNA binding methylglutaconyl-CoA hydratase | Niet vastgelegd | In 1 aandoening |
| CANT1calcium activated nucleotidase 1 | Niet vastgelegd | In 1 aandoening |
| CDK8cyclin dependent kinase 8 | Niet vastgelegd | In 1 aandoening |
| CHKBcholine kinase beta | Niet vastgelegd | In 1 aandoening |
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Niet vastgelegd | In 1 aandoening |
| CHRNEcholinergic receptor nicotinic epsilon subunit | Niet vastgelegd | In 1 aandoening |
| CHST14carbohydrate sulfotransferase 14 | Niet vastgelegd | In 1 aandoening |
| CNOT2CCR4-NOT transcription complex subunit 2 | Niet vastgelegd | In 1 aandoening |
| COQ2coenzyme Q2, polyprenyltransferase | Niet vastgelegd | In 1 aandoening |
| COQ7coenzyme Q7, hydroxylase | Niet vastgelegd | In 1 aandoening |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Niet vastgelegd | In 1 aandoening |
| COX15cytochrome c oxidase assembly factor COX15 | Niet vastgelegd | In 1 aandoening |
| COX6B1cytochrome c oxidase subunit 6B1 | Niet vastgelegd | In 1 aandoening |
| CTDP1CTD phosphatase 1 | Niet vastgelegd | In 1 aandoening |
| CYP2U1cytochrome P450 family 2 subfamily U member 1 | Niet vastgelegd | In 1 aandoening |
| DCXdoublecortin | Niet vastgelegd | In 1 aandoening |
| DNM2dynamin 2 | Niet vastgelegd | In 1 aandoening |
| DPYDdihydropyrimidine dehydrogenase | Niet vastgelegd | In 1 aandoening |
| EPG5ectopic P-granules 5 autophagy tethering factor | Niet vastgelegd | In 1 aandoening |
| EXOSC2exosome component 2 | Niet vastgelegd | In 1 aandoening |
| EXT2exostosin glycosyltransferase 2 | Niet vastgelegd | In 1 aandoening |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Niet vastgelegd | In 1 aandoening |
| FBN2fibrillin 2 | Niet vastgelegd | In 1 aandoening |
| FDX2ferredoxin 2 | Niet vastgelegd | In 1 aandoening |
| FGFR3fibroblast growth factor receptor 3 | Niet vastgelegd | In 1 aandoening |
| FLNAfilamin A | Niet vastgelegd | In 1 aandoening |
| FOXG1forkhead box G1 | Niet vastgelegd | In 1 aandoening |
| GFM1G elongation factor mitochondrial 1 | Niet vastgelegd | In 1 aandoening |
| GLE1GLE1 RNA export mediator | Niet vastgelegd | In 1 aandoening |
| GTF2E2general transcription factor IIE subunit 2 | Niet vastgelegd | In 1 aandoening |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Niet vastgelegd | In 1 aandoening |
| HPRT1hypoxanthine phosphoribosyltransferase 1 | Niet vastgelegd | In 1 aandoening |
| HYCC1hyccin PI4KA lipid kinase complex subunit 1 | Niet vastgelegd | In 1 aandoening |
| KAT6Blysine acetyltransferase 6B | Niet vastgelegd | In 1 aandoening |
| KDELR2KDEL endoplasmic reticulum protein retention receptor 2 | Niet vastgelegd | In 1 aandoening |
| KDM1Alysine demethylase 1A | Niet vastgelegd | In 1 aandoening |
| KIF7kinesin family member 7 | Niet vastgelegd | In 1 aandoening |
| KLC2kinesin light chain 2 | Niet vastgelegd | In 1 aandoening |
| LAMA1laminin subunit alpha 1 | Niet vastgelegd | In 1 aandoening |
| LMNAlamin A/C | Niet vastgelegd | In 1 aandoening |
| MAPRE2microtubule associated protein RP/EB family member 2 | Niet vastgelegd | In 1 aandoening |
| MED12mediator complex subunit 12 | Niet vastgelegd | In 1 aandoening |
| MEGF10multiple EGF like domains 10 | Niet vastgelegd | In 1 aandoening |
| MLC1modulator of VRAC current 1 | Niet vastgelegd | In 1 aandoening |
| MMP13matrix metallopeptidase 13 | Niet vastgelegd | In 1 aandoening |
| MPDZmultiple PDZ domain crumbs cell polarity complex component | Niet vastgelegd | In 1 aandoening |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Niet vastgelegd | In 1 aandoening |
| MTM1myotubularin 1 | Niet vastgelegd | In 1 aandoening |
| MTMR14myotubularin related protein 14 | Niet vastgelegd | In 1 aandoening |
| MTMR2myotubularin related protein 2 | Niet vastgelegd | In 1 aandoening |
| MUSKmuscle associated receptor tyrosine kinase | Niet vastgelegd | In 1 aandoening |
| MYL1myosin light chain 1 | Niet vastgelegd | In 1 aandoening |
| MYO9Amyosin IXA | Niet vastgelegd | In 1 aandoening |
| NANSN-acetylneuraminate synthase | Niet vastgelegd | In 1 aandoening |
| NONOnon-POU domain containing octamer binding | Niet vastgelegd | In 1 aandoening |
| OPA1OPA1 mitochondrial dynamin like GTPase | Niet vastgelegd | In 1 aandoening |
| PAX7paired box 7 | Niet vastgelegd | In 1 aandoening |
| PBX1PBX homeobox 1 | Niet vastgelegd | In 1 aandoening |
| PNKPpolynucleotide kinase 3'-phosphatase | Niet vastgelegd | In 1 aandoening |
| PNPpurine nucleoside phosphorylase | Niet vastgelegd | In 1 aandoening |
| PREPLprolyl endopeptidase like | Niet vastgelegd | In 1 aandoening |
| PTCH1patched 1 | Niet vastgelegd | In 1 aandoening |
| PTPRQprotein tyrosine phosphatase receptor type Q | Niet vastgelegd | In 1 aandoening |
| RBM8ARNA binding motif protein 8A | Niet vastgelegd | In 1 aandoening |
| RIPK4receptor interacting serine/threonine kinase 4 | Niet vastgelegd | In 1 aandoening |
| RORARAR related orphan receptor A | Niet vastgelegd | In 1 aandoening |
| SAMD9sterile alpha motif domain containing 9 | Niet vastgelegd | In 1 aandoening |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Niet vastgelegd | In 1 aandoening |
| SCO1synthesis of cytochrome C oxidase 1 | Niet vastgelegd | In 1 aandoening |
| SH3TC2SH3 domain and tetratricopeptide repeats 2 | Niet vastgelegd | In 1 aandoening |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Niet vastgelegd | In 1 aandoening |
| SLC1A3solute carrier family 1 member 3 | Niet vastgelegd | In 1 aandoening |
| SLC25A1solute carrier family 25 member 1 | Niet vastgelegd | In 1 aandoening |
| SLC6A8solute carrier family 6 member 8 | Niet vastgelegd | In 1 aandoening |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Niet vastgelegd | In 1 aandoening |
| SURF1SURF1 cytochrome c oxidase assembly factor | Niet vastgelegd | In 1 aandoening |
| TACO1translational activator of cytochrome c oxidase I | Niet vastgelegd | In 1 aandoening |
| TCF4transcription factor 4 | Niet vastgelegd | In 1 aandoening |
| TENT5Aterminal nucleotidyltransferase 5A | Niet vastgelegd | In 1 aandoening |
| TKFCtriokinase and FMN cyclase | Niet vastgelegd | In 1 aandoening |
| TMCO1transmembrane and coiled-coil domains 1 | Niet vastgelegd | In 1 aandoening |
| TNFRSF11ATNF receptor superfamily member 11a | Niet vastgelegd | In 1 aandoening |
| TRIP11thyroid hormone receptor interactor 11 | Niet vastgelegd | In 1 aandoening |
| TRMT10AtRNA methyltransferase 10A | Niet vastgelegd | In 1 aandoening |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Niet vastgelegd | In 1 aandoening |
| TUBA1Atubulin alpha 1a | Niet vastgelegd | In 1 aandoening |
| TUBBtubulin beta class I | Niet vastgelegd | In 1 aandoening |
| VDRvitamin D receptor | Niet vastgelegd | In 1 aandoening |
| VPS13Bvacuolar protein sorting 13 homolog B | Niet vastgelegd | In 1 aandoening |
| ZEB2zinc finger E-box binding homeobox 2 | 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.
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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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