Kenmerk
Low-set ears
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Samenvatting
- Ook bekend als
- Low set ears, Lowset ears, Low-set pinnae, Melotia
- Lichaamssysteem
- Abnormality of the ear
ReferentiegenoomGRCh38hg38
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Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Low-set ears 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 |
|---|---|---|
| ACANaggrecan | Altijd | In 1 aandoening |
| ACER3alkaline ceramidase 3 | Altijd | In 1 aandoening |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Altijd | In 3 aandoeningen |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Altijd | In 1 aandoening |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Altijd | In 3 aandoeningen |
| ALX1ALX homeobox 1 | Altijd | In 1 aandoening |
| ANKHANKH inorganic pyrophosphate transport regulator | Altijd | In 1 aandoening |
| AP3B1adaptor related protein complex 3 subunit beta 1 | Altijd | In 1 aandoening |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Altijd | In 1 aandoening |
| ASH1LASH1 like histone lysine methyltransferase | Altijd | In 1 aandoening |
| ATIC5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase | Altijd | In 2 aandoeningen |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Altijd | In 4 aandoeningen |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Altijd | In 2 aandoeningen |
| ATRXATRX chromatin remodeler | Altijd | In 2 aandoeningen |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Altijd | In 4 aandoeningen |
| BRF1BRF1 general transcription factor IIIB subunit | Altijd | In 2 aandoeningen |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Altijd | In 1 aandoening |
| CCNKcyclin K | Altijd | In 1 aandoening |
| CDC6cell division cycle 6 | Altijd | In 2 aandoeningen |
| CDK10cyclin dependent kinase 10 | Altijd | In 1 aandoening |
| CDT1chromatin licensing and DNA replication factor 1 | Altijd | In 2 aandoeningen |
| CEP55centrosomal protein 55 | Altijd | In 1 aandoening |
| CEP57centrosomal protein 57 | Altijd | In 1 aandoening |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Altijd | In 1 aandoening |
| CHST14carbohydrate sulfotransferase 14 | Altijd | In 1 aandoening |
| CHUKcomponent of inhibitor of nuclear factor kappa B kinase complex | Altijd | In 1 aandoening |
| CIROZciliated left-right organizer protein containing ZP-N domains | Altijd | In 1 aandoening |
| CNOT2CCR4-NOT transcription complex subunit 2 | Altijd | In 1 aandoening |
| COG1component of oligomeric golgi complex 1 | Altijd | In 1 aandoening |
| COG7component of oligomeric golgi complex 7 | Altijd | In 1 aandoening |
| COL13A1collagen type XIII alpha 1 chain | Altijd | In 1 aandoening |
| CPAPcentrosome assembly and centriole elongation protein | Altijd | In 1 aandoening |
| CREBBPCREB binding lysine acetyltransferase | Altijd | In 4 aandoeningen |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Altijd | In 1 aandoening |
| DCPSdecapping enzyme, scavenger | Altijd | In 1 aandoening |
| DDX59DEAD-box helicase 59 | Altijd | In 1 aandoening |
| DHCR77-dehydrocholesterol reductase | Altijd | In 1 aandoening |
| DHRS3dehydrogenase/reductase 3 | Altijd | In 1 aandoening |
| DHX9DExH-box helicase 9 | Altijd | In 1 aandoening |
| DMRT2doublesex and mab-3 related transcription factor 2 | Altijd | In 1 aandoening |
Toon nog 768 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| DNM1dynamin 1 | Altijd | In 1 aandoening |
| DONSONDNA replication fork stabilization factor DONSON | Altijd | In 2 aandoeningen |
| DPH1diphthamide biosynthesis 1 | Altijd | In 2 aandoeningen |
| DPH2diphthamide biosynthesis 2 | Altijd | In 2 aandoeningen |
| DRG1developmentally regulated GTP binding protein 1 | Altijd | In 1 aandoening |
| DSTdystonin | Altijd | In 2 aandoeningen |
| DVL1dishevelled segment polarity protein 1 | Altijd | In 3 aandoeningen |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Altijd | In 1 aandoening |
| EBPEBP cholestenol delta-isomerase | Altijd | In 3 aandoeningen |
| EP300EP300 lysine acetyltransferase | Altijd | In 3 aandoeningen |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Altijd | In 1 aandoening |
| ERI1exoribonuclease 1 | Altijd | In 2 aandoeningen |
| EXOSC2exosome component 2 | Altijd | In 1 aandoening |
| FEM1Bfem-1 homolog B | Altijd | In 1 aandoening |
| FIG4FIG4 phosphoinositide 5-phosphatase | Altijd | In 2 aandoeningen |
| FLNAfilamin A | Altijd | In 5 aandoeningen |
| FLNBfilamin B | Altijd | In 2 aandoeningen |
| FLVCR1FLVCR choline and heme transporter 1 | Altijd | In 1 aandoening |
| FUCA1alpha-L-fucosidase 1 | Altijd | In 1 aandoening |
| GALNT2polypeptide N-acetylgalactosaminyltransferase 2 | Altijd | In 1 aandoening |
| GINS3GINS complex subunit 3 | Altijd | In 1 aandoening |
| GLULglutamate-ammonia ligase | Altijd | In 1 aandoening |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Altijd | In 1 aandoening |
| GRIP1glutamate receptor interacting protein 1 | Altijd | In 1 aandoening |
| GTF2H5general transcription factor IIH subunit 5 | Altijd | In 1 aandoening |
| GTPBP2GTP binding protein 2 | Altijd | In 1 aandoening |
| HMX1H6 family homeobox 1 | Altijd | In 1 aandoening |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Altijd | In 1 aandoening |
| HOXB1homeobox B1 | Altijd | In 1 aandoening |
| HS6ST2heparan sulfate 6-O-sulfotransferase 2 | Altijd | In 1 aandoening |
| IFT122intraflagellar transport 122 | Altijd | In 1 aandoening |
| IFT140intraflagellar transport 140 | Altijd | In 2 aandoeningen |
| IFT52intraflagellar transport 52 | Altijd | In 1 aandoening |
| IFT56intraflagellar transport 56 | Altijd | In 1 aandoening |
| IGBP1immunoglobulin binding protein 1 | Altijd | In 2 aandoeningen |
| IL6STinterleukin 6 cytokine family signal transducer | Altijd | In 1 aandoening |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Altijd | In 1 aandoening |
| INPP5Einositol polyphosphate-5-phosphatase E | Altijd | In 3 aandoeningen |
| INTS11integrator complex subunit 11 | Altijd | In 1 aandoening |
| INTUinturned planar cell polarity protein | Altijd | In 2 aandoeningen |
| IREB2iron responsive element binding protein 2 | Altijd | In 1 aandoening |
| IRX5iroquois homeobox 5 | Altijd | In 1 aandoening |
| ITCHitchy E3 ubiquitin protein ligase | Altijd | In 1 aandoening |
| JAG1jagged canonical Notch ligand 1 | Altijd | In 1 aandoening |
| KDM2Blysine demethylase 2B | Altijd | In 1 aandoening |
| KIAA0753KIAA0753 | Altijd | In 4 aandoeningen |
| KIF7kinesin family member 7 | Altijd | In 3 aandoeningen |
| LIFRLIF receptor subunit alpha | Altijd | In 1 aandoening |
| LZTR1leucine zipper like post translational regulator 1 | Altijd | In 2 aandoeningen |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Altijd | In 2 aandoeningen |
| MARS1methionyl-tRNA synthetase 1 | Altijd | In 1 aandoening |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Altijd | In 1 aandoening |
| MCM5minichromosome maintenance complex component 5 | Altijd | In 1 aandoening |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Altijd | In 1 aandoening |
| MN1MN1 proto-oncogene, transcriptional regulator | Altijd | In 1 aandoening |
| MRASmuscle RAS oncogene homolog | Altijd | In 1 aandoening |
| MRPL12mitochondrial ribosomal protein L12 | Altijd | In 1 aandoening |
| MRPS14mitochondrial ribosomal protein S14 | Altijd | In 1 aandoening |
| MRPS16mitochondrial ribosomal protein S16 | Altijd | In 1 aandoening |
| MRPS28mitochondrial ribosomal protein S28 | Altijd | In 1 aandoening |
| MYH3myosin heavy chain 3 | Altijd | In 3 aandoeningen |
| MYOD1myogenic differentiation 1 | Altijd | In 1 aandoening |
| NAA80N-alpha-acetyltransferase 80, NatH catalytic subunit | Altijd | In 1 aandoening |
| NALCNsodium leak channel, non-selective | Altijd | In 2 aandoeningen |
| NECTIN1nectin cell adhesion molecule 1 | Altijd | In 1 aandoening |
| NF1neurofibromin 1 | Altijd | In 4 aandoeningen |
| NOTCH2notch receptor 2 | Altijd | In 2 aandoeningen |
| NOTCH3notch receptor 3 | Altijd | In 2 aandoeningen |
| NRASNRAS proto-oncogene, GTPase | Altijd | In 1 aandoening |
| NSD1nuclear receptor binding SET domain protein 1 | Altijd | In 1 aandoening |
| NUP188nucleoporin 188 | Altijd | In 1 aandoening |
| NUP88nucleoporin 88 | Altijd | In 1 aandoening |
| OFD1OFD1 centriole and centriolar satellite protein | Altijd | In 4 aandoeningen |
| OGTO-linked N-acetylglucosamine (GlcNAc) transferase | Altijd | In 1 aandoening |
| ORC1origin recognition complex subunit 1 | Altijd | In 2 aandoeningen |
| PAICSphosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase | Altijd | In 1 aandoening |
| PAX1paired box 1 | Altijd | In 1 aandoening |
| PEX1peroxisomal biogenesis factor 1 | Altijd | In 1 aandoening |
| PEX10peroxisomal biogenesis factor 10 | Altijd | In 1 aandoening |
| PEX12peroxisomal biogenesis factor 12 | Altijd | In 1 aandoening |
| PEX26peroxisomal biogenesis factor 26 | Altijd | In 1 aandoening |
| PEX3peroxisomal biogenesis factor 3 | Altijd | In 1 aandoening |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Altijd | In 1 aandoening |
| PLOD3procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | Altijd | In 1 aandoening |
| PLVAPplasmalemma vesicle associated protein | Altijd | In 1 aandoening |
| POC1APOC1 centriolar protein A | Altijd | In 1 aandoening |
| POLR3ARNA polymerase III subunit A | Altijd | In 2 aandoeningen |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Altijd | In 1 aandoening |
| PRIM1DNA primase subunit 1 | Altijd | In 1 aandoening |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Altijd | In 2 aandoeningen |
| PRRX1paired related homeobox 1 | Altijd | In 1 aandoening |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Altijd | In 1 aandoening |
| PTH1Rparathyroid hormone 1 receptor | Altijd | In 2 aandoeningen |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Altijd | In 1 aandoening |
| RAB5IFRAB5 interacting factor | Altijd | In 1 aandoening |
| RAP1GDS1Rap1 GTPase-GDP dissociation stimulator 1 | Altijd | In 1 aandoening |
| RAPSNreceptor associated protein of the synapse | Altijd | In 1 aandoening |
| RNU2-2RNA, U2 small nuclear 2 | Altijd | In 1 aandoening |
| RNU5B-1RNA, U5B small nuclear 1 | Altijd | In 1 aandoening |
| RSPRY1ring finger and SPRY domain containing 1 | Altijd | In 2 aandoeningen |
| SATB2SATB homeobox 2 | Altijd | In 3 aandoeningen |
| SCO2synthesis of cytochrome C oxidase 2 | Altijd | In 1 aandoening |
| SCYL2SCY1 like pseudokinase 2 | Altijd | In 1 aandoening |
| SH3PXD2BSH3 and PX domains 2B | Altijd | In 1 aandoening |
| SIAH1siah E3 ubiquitin protein ligase 1 | Altijd | In 1 aandoening |
| SLC12A2solute carrier family 12 member 2 | Altijd | In 1 aandoening |
| SLC37A4solute carrier family 37 member 4 | Altijd | In 1 aandoening |
| SOD1superoxide dismutase 1 | Altijd | In 1 aandoening |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Altijd | In 1 aandoening |
| SOX11SRY-box transcription factor 11 | Altijd | In 1 aandoening |
| SPOUT1SPOUT domain containing methyltransferase 1 | Altijd | In 1 aandoening |
| SPRED2sprouty related EVH1 domain containing 2 | Altijd | In 1 aandoening |
| STAC3SH3 and cysteine rich domain 3 | Altijd | In 1 aandoening |
| SUPT7LSPT7 like, STAGA complex subunit gamma | Altijd | In 1 aandoening |
| TAF4TATA-box binding protein associated factor 4 | Altijd | In 1 aandoening |
| TASP1taspase 1 | Altijd | In 1 aandoening |
| TBX15T-box transcription factor 15 | Altijd | In 2 aandoeningen |
| TM2D3TM2 domain containing 3 | Altijd | In 1 aandoening |
| TMCO1transmembrane and coiled-coil domains 1 | Altijd | In 1 aandoening |
| TMEM107transmembrane protein 107 | Altijd | In 1 aandoening |
| TOP2BDNA topoisomerase II beta | Altijd | In 1 aandoening |
| TRA2Btransformer 2 beta homolog | Altijd | In 1 aandoening |
| TRIP11thyroid hormone receptor interactor 11 | Altijd | In 1 aandoening |
| TUBBtubulin beta class I | Altijd | In 1 aandoening |
| UBA2ubiquitin like modifier activating enzyme 2 | Altijd | In 1 aandoening |
| UBE3Bubiquitin protein ligase E3B | Altijd | In 1 aandoening |
| WDR35WD repeat domain 35 | Altijd | In 1 aandoening |
| ZSCAN10zinc finger and SCAN domain containing 10 | Altijd | In 1 aandoening |
| ADAMTS15ADAM metallopeptidase with thrombospondin type 1 motif 15 | Heel vaak (80–99%) | In 1 aandoening |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Heel vaak (80–99%) | In 1 aandoening |
| ADSLadenylosuccinate lyase | Heel vaak (80–99%) | In 2 aandoeningen |
| ANTXR1ANTXR cell adhesion molecule 1 | Heel vaak (80–99%) | In 1 aandoening |
| ARVCFARVCF delta catenin family member | Heel vaak (80–99%) | In 1 aandoening |
| ATP6V1AATPase H+ transporting V1 subunit A | Heel vaak (80–99%) | In 2 aandoeningen |
| B3GALT6beta-1,3-galactosyltransferase 6 | Heel vaak (80–99%) | In 1 aandoening |
| CCBE1collagen and calcium binding EGF domains 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Heel vaak (80–99%) | In 3 aandoeningen |
| COMTcatechol-O-methyltransferase | Heel vaak (80–99%) | In 1 aandoening |
| CWC27CWC27 spliceosome associated cyclophilin | Heel vaak (80–99%) | In 2 aandoeningen |
| EFTUD2elongation factor Tu GTP binding domain containing 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| FAM20CFAM20C golgi associated secretory pathway kinase | Heel vaak (80–99%) | In 2 aandoeningen |
| FAT4FAT atypical cadherin 4 | Heel vaak (80–99%) | In 1 aandoening |
| FBN1fibrillin 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| FGF20fibroblast growth factor 20 | Heel vaak (80–99%) | In 1 aandoening |
| FGFR2fibroblast growth factor receptor 2 | Heel vaak (80–99%) | In 9 aandoeningen |
| GFRA1GDNF family receptor alpha 1 | Heel vaak (80–99%) | In 1 aandoening |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Heel vaak (80–99%) | In 2 aandoeningen |
| GP1BBglycoprotein Ib platelet subunit beta | Heel vaak (80–99%) | In 1 aandoening |
| GPC6glypican 6 | Heel vaak (80–99%) | In 1 aandoening |
| GREB1LGREB1 like retinoic acid receptor coactivator | Heel vaak (80–99%) | In 1 aandoening |
| HDAC6histone deacetylase 6 | Heel vaak (80–99%) | In 2 aandoeningen |
| HIRAhistone cell cycle regulator | Heel vaak (80–99%) | In 1 aandoening |
| ITGA8integrin subunit alpha 8 | Heel vaak (80–99%) | In 2 aandoeningen |
| JMJD1Cjumonji domain containing 1C | Heel vaak (80–99%) | In 1 aandoening |
| KAT6Alysine acetyltransferase 6A | Heel vaak (80–99%) | In 1 aandoening |
| KAT6Blysine acetyltransferase 6B | Heel vaak (80–99%) | In 3 aandoeningen |
| KRASKRas proto-oncogene, GTPase | Heel vaak (80–99%) | In 3 aandoeningen |
| LBRlamin B receptor | Heel vaak (80–99%) | In 1 aandoening |
| LMNAlamin A/C | Heel vaak (80–99%) | In 1 aandoening |
| MAP2K1mitogen-activated protein kinase kinase 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| MAP2K2mitogen-activated protein kinase kinase 2 | Heel vaak (80–99%) | In 1 aandoening |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Heel vaak (80–99%) | In 1 aandoening |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| POLEDNA polymerase epsilon, catalytic subunit | Heel vaak (80–99%) | In 2 aandoeningen |
| PSAT1phosphoserine aminotransferase 1 | Heel vaak (80–99%) | In 1 aandoening |
| PTCH1patched 1 | Heel vaak (80–99%) | In 1 aandoening |
| PTF1Apancreas associated transcription factor 1a | Heel vaak (80–99%) | In 2 aandoeningen |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Heel vaak (80–99%) | In 2 aandoeningen |
| RETret proto-oncogene | Heel vaak (80–99%) | In 1 aandoening |
| RIT1Ras like without CAAX 1 | Heel vaak (80–99%) | In 1 aandoening |
| RNU4ATACRNA, U4atac small nuclear | Heel vaak (80–99%) | In 2 aandoeningen |
| RREB1ras responsive element binding protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| SEC24CSEC24 homolog C, COPII component | Heel vaak (80–99%) | In 1 aandoening |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Heel vaak (80–99%) | In 1 aandoening |
| SKISKI proto-oncogene | Heel vaak (80–99%) | In 2 aandoeningen |
| SLC25A24solute carrier family 25 member 24 | Heel vaak (80–99%) | In 1 aandoening |
| TAF1TATA-box binding protein associated factor 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| TBX1T-box transcription factor 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| TCTN3tectonic family member 3 | Heel vaak (80–99%) | In 3 aandoeningen |
| TMEM70transmembrane protein 70 | Heel vaak (80–99%) | In 2 aandoeningen |
| TMEM94transmembrane protein 94 | Heel vaak (80–99%) | In 1 aandoening |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Heel vaak (80–99%) | In 1 aandoening |
| WNT9BWnt family member 9B | Heel vaak (80–99%) | In 1 aandoening |
| ZBTB18zinc finger and BTB domain containing 18 | Heel vaak (80–99%) | In 2 aandoeningen |
| ZMPSTE24zinc metallopeptidase STE24 | Heel vaak (80–99%) | In 2 aandoeningen |
| ACOX1acyl-CoA oxidase 1 | Vaak (30–79%) | In 2 aandoeningen |
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Vaak (30–79%) | In 2 aandoeningen |
| ADAMTSL2ADAMTS like 2 | Vaak (30–79%) | In 1 aandoening |
| ADGRG6adhesion G protein-coupled receptor G6 | Vaak (30–79%) | In 1 aandoening |
| AHDC1AT-hook DNA binding motif containing 1 | Vaak (30–79%) | In 2 aandoeningen |
| ALDH1A2aldehyde dehydrogenase 1 family member A2 | Vaak (30–79%) | In 1 aandoening |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Vaak (30–79%) | In 1 aandoening |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Vaak (30–79%) | In 2 aandoeningen |
| ALPK3alpha kinase 3 | Vaak (30–79%) | In 1 aandoening |
| ALX4ALX homeobox 4 | Vaak (30–79%) | In 2 aandoeningen |
| ANO1anoctamin 1 | Vaak (30–79%) | In 1 aandoening |
| ANTXR2ANTXR cell adhesion molecule 2 | Vaak (30–79%) | In 1 aandoening |
| AP1G1adaptor related protein complex 1 subunit gamma 1 | Vaak (30–79%) | In 1 aandoening |
| ARID2AT-rich interaction domain 2 | Vaak (30–79%) | In 1 aandoening |
| ASXL1ASXL transcriptional regulator 1 | Vaak (30–79%) | In 1 aandoening |
| ASXL2ASXL transcriptional regulator 2 | Vaak (30–79%) | In 1 aandoening |
| ASXL3ASXL transcriptional regulator 3 | Vaak (30–79%) | In 1 aandoening |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Vaak (30–79%) | In 1 aandoening |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Vaak (30–79%) | In 1 aandoening |
| ATXN7L3ataxin 7 like 3 | Vaak (30–79%) | In 1 aandoening |
| AUTS2activator of transcription and developmental regulator AUTS2 | Vaak (30–79%) | In 2 aandoeningen |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Vaak (30–79%) | In 1 aandoening |
| B4GALT1beta-1,4-galactosyltransferase 1 | Vaak (30–79%) | In 1 aandoening |
| B4GALT7beta-1,4-galactosyltransferase 7 | Vaak (30–79%) | In 1 aandoening |
| BCL11ABCL11 transcription factor A | Vaak (30–79%) | In 2 aandoeningen |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Vaak (30–79%) | In 1 aandoening |
| BMP2bone morphogenetic protein 2 | Vaak (30–79%) | In 1 aandoening |
| BORCS8BLOC-1 related complex subunit 8 | Vaak (30–79%) | In 1 aandoening |
| CACHD1cache domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Vaak (30–79%) | In 1 aandoening |
| CAV1caveolin 1 | Vaak (30–79%) | In 1 aandoening |
| CCDC22CCC complex scaffolding subunit CCDC22 | Vaak (30–79%) | In 1 aandoening |
| CDC45cell division cycle 45 | Vaak (30–79%) | In 2 aandoeningen |
| CDH2cadherin 2 | Vaak (30–79%) | In 1 aandoening |
| CEP152centrosomal protein 152 | Vaak (30–79%) | In 1 aandoening |
| CHAMP1chromosome alignment maintaining phosphoprotein 1 | Vaak (30–79%) | In 1 aandoening |
| CHD7chromodomain helicase DNA binding protein 7 | Vaak (30–79%) | In 1 aandoening |
| CHRNGcholinergic receptor nicotinic gamma subunit | Vaak (30–79%) | In 3 aandoeningen |
| CHST3carbohydrate sulfotransferase 3 | Vaak (30–79%) | In 1 aandoening |
| CILK1ciliogenesis associated kinase 1 | Vaak (30–79%) | In 2 aandoeningen |
| COG5component of oligomeric golgi complex 5 | Vaak (30–79%) | In 1 aandoening |
| COL11A1collagen type XI alpha 1 chain | Vaak (30–79%) | In 3 aandoeningen |
| COL11A2collagen type XI alpha 2 chain | Vaak (30–79%) | In 1 aandoening |
| COL2A1collagen type II alpha 1 chain | Vaak (30–79%) | In 2 aandoeningen |
| CSNK2A1casein kinase 2 alpha 1 | Vaak (30–79%) | In 1 aandoening |
| CTSDcathepsin D | Vaak (30–79%) | In 1 aandoening |
| CTU2cytosolic thiouridylase subunit 2 | Vaak (30–79%) | In 1 aandoening |
| DDX6DEAD-box helicase 6 | Vaak (30–79%) | In 1 aandoening |
| DHCR2424-dehydrocholesterol reductase | Vaak (30–79%) | In 2 aandoeningen |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Vaak (30–79%) | In 2 aandoeningen |
| DLX4distal-less homeobox 4 | Vaak (30–79%) | In 1 aandoening |
| DPF2double PHD fingers 2 | Vaak (30–79%) | In 1 aandoening |
| DPYSL5dihydropyrimidinase like 5 | Vaak (30–79%) | In 1 aandoening |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Vaak (30–79%) | In 1 aandoening |
| EBF3EBF transcription factor 3 | Vaak (30–79%) | In 2 aandoeningen |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Vaak (30–79%) | In 1 aandoening |
| EFL1elongation factor like GTPase 1 | Vaak (30–79%) | In 1 aandoening |
| EIF5Aeukaryotic translation initiation factor 5A | Vaak (30–79%) | In 1 aandoening |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Vaak (30–79%) | In 1 aandoening |
| ERCC5ERCC excision repair 5, endonuclease | Vaak (30–79%) | In 1 aandoening |
| EXOC2exocyst complex component 2 | Vaak (30–79%) | In 1 aandoening |
| FANCBFA complementation group B | Vaak (30–79%) | In 1 aandoening |
| FANCLFA complementation group L | Vaak (30–79%) | In 1 aandoening |
| FBXO22F-box protein 22 | Vaak (30–79%) | In 1 aandoening |
| FDFT1farnesyl-diphosphate farnesyltransferase 1 | Vaak (30–79%) | In 1 aandoening |
| FGFR1fibroblast growth factor receptor 1 | Vaak (30–79%) | In 3 aandoeningen |
| FKRPfukutin related protein | Vaak (30–79%) | In 2 aandoeningen |
| FKTNfukutin | Vaak (30–79%) | In 2 aandoeningen |
| FOXL2forkhead box L2 | Vaak (30–79%) | In 1 aandoening |
| FRA10AC1FRA10A associated CGG repeat 1 | Vaak (30–79%) | In 1 aandoening |
| FREM1FRAS1 related extracellular matrix 1 | Vaak (30–79%) | In 1 aandoening |
| GATA4GATA binding protein 4 | Vaak (30–79%) | In 1 aandoening |
| GMNNgeminin DNA replication inhibitor | Vaak (30–79%) | In 1 aandoening |
| GNSglucosamine (N-acetyl)-6-sulfatase | Vaak (30–79%) | In 1 aandoening |
| GON4Lgon-4 like | Vaak (30–79%) | In 1 aandoening |
| GPC4glypican 4 | Vaak (30–79%) | In 1 aandoening |
| GPKOWG-patch domain and KOW motifs | Vaak (30–79%) | In 1 aandoening |
| GPT2glutamic--pyruvic transaminase 2 | Vaak (30–79%) | In 2 aandoeningen |
| H4C3H4 clustered histone 3 | Vaak (30–79%) | In 1 aandoening |
| H4C9H4 clustered histone 9 | Vaak (30–79%) | In 1 aandoening |
| HEATR3HEAT repeat containing 3 | Vaak (30–79%) | In 2 aandoeningen |
| HMGA2high mobility group AT-hook 2 | Vaak (30–79%) | In 1 aandoening |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Vaak (30–79%) | In 1 aandoening |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Vaak (30–79%) | In 1 aandoening |
| HSPG2heparan sulfate proteoglycan 2 | Vaak (30–79%) | In 2 aandoeningen |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Vaak (30–79%) | In 1 aandoening |
| HYAL2hyaluronidase 2 | Vaak (30–79%) | In 1 aandoening |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Vaak (30–79%) | In 3 aandoeningen |
| IFT81intraflagellar transport 81 | Vaak (30–79%) | In 1 aandoening |
| IGF2insulin like growth factor 2 | Vaak (30–79%) | In 2 aandoeningen |
| INTS1integrator complex subunit 1 | Vaak (30–79%) | In 1 aandoening |
| KAT5lysine acetyltransferase 5 | Vaak (30–79%) | In 1 aandoening |
| KAT8lysine acetyltransferase 8 | Vaak (30–79%) | In 1 aandoening |
| KATNB1katanin regulatory subunit B1 | Vaak (30–79%) | In 1 aandoening |
| KCNK4potassium two pore domain channel subfamily K member 4 | Vaak (30–79%) | In 1 aandoening |
| KDM6Alysine demethylase 6A | Vaak (30–79%) | In 2 aandoeningen |
| KIF14kinesin family member 14 | Vaak (30–79%) | In 1 aandoening |
| KMT2Dlysine methyltransferase 2D | Vaak (30–79%) | In 2 aandoeningen |
| KYNUkynureninase | Vaak (30–79%) | In 1 aandoening |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Vaak (30–79%) | In 2 aandoeningen |
| LARP7La ribonucleoprotein 7, transcriptional regulator | Vaak (30–79%) | In 2 aandoeningen |
| LRP2LDL receptor related protein 2 | Vaak (30–79%) | In 1 aandoening |
| MAB21L1mab-21 like 1 | Vaak (30–79%) | In 2 aandoeningen |
| MAFMAF bZIP transcription factor | Vaak (30–79%) | In 2 aandoeningen |
| MAN1B1mannosidase alpha class 1B member 1 | Vaak (30–79%) | In 2 aandoeningen |
| MAPK1mitogen-activated protein kinase 1 | Vaak (30–79%) | In 1 aandoening |
| MAPRE2microtubule associated protein RP/EB family member 2 | Vaak (30–79%) | In 1 aandoening |
| MCTP2multiple C2 and transmembrane domain containing 2 | Vaak (30–79%) | In 1 aandoening |
| MED12mediator complex subunit 12 | Vaak (30–79%) | In 3 aandoeningen |
| MED13Lmediator complex subunit 13L | Vaak (30–79%) | In 2 aandoeningen |
| MED16mediator complex subunit 16 | Vaak (30–79%) | In 1 aandoening |
| MEGF8multiple EGF like domains 8 | Vaak (30–79%) | In 1 aandoening |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Vaak (30–79%) | In 1 aandoening |
| MRPS2mitochondrial ribosomal protein S2 | Vaak (30–79%) | In 1 aandoening |
| MSL3MSL complex subunit 3 | Vaak (30–79%) | In 1 aandoening |
| MUSKmuscle associated receptor tyrosine kinase | Vaak (30–79%) | In 1 aandoening |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Vaak (30–79%) | In 2 aandoeningen |
| MYMXmyomixer, myoblast fusion factor | Vaak (30–79%) | In 1 aandoening |
| MYO18Bmyosin XVIIIB | Vaak (30–79%) | In 1 aandoening |
| NDE1nudE neurodevelopment protein 1 | Vaak (30–79%) | In 1 aandoening |
| NEU1neuraminidase 1 | Vaak (30–79%) | In 2 aandoeningen |
| NFIXnuclear factor I X | Vaak (30–79%) | In 2 aandoeningen |
| NIPBLNIPBL cohesin loading factor | Vaak (30–79%) | In 1 aandoening |
| NSUN6NOP2/Sun RNA methyltransferase 6 | Vaak (30–79%) | In 1 aandoening |
| NXNnucleoredoxin | Vaak (30–79%) | In 1 aandoening |
| ORC4origin recognition complex subunit 4 | Vaak (30–79%) | In 1 aandoening |
| ORC6origin recognition complex subunit 6 | Vaak (30–79%) | In 2 aandoeningen |
| OTUD5OTU deubiquitinase 5 | Vaak (30–79%) | In 1 aandoening |
| OTUD6BOTU deubiquitinase 6B | Vaak (30–79%) | In 2 aandoeningen |
| PACS1phosphofurin acidic cluster sorting protein 1 | Vaak (30–79%) | In 2 aandoeningen |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Vaak (30–79%) | In 1 aandoening |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Vaak (30–79%) | In 1 aandoening |
| PCGF2polycomb group ring finger 2 | Vaak (30–79%) | In 1 aandoening |
| PCNTpericentrin | Vaak (30–79%) | In 1 aandoening |
| PHACTR1phosphatase and actin regulator 1 | Vaak (30–79%) | In 1 aandoening |
| PHGDHphosphoglycerate dehydrogenase | Vaak (30–79%) | In 1 aandoening |
| PITX1paired like homeodomain 1 | Vaak (30–79%) | In 1 aandoening |
| PLAAphospholipase A2 activating protein | Vaak (30–79%) | In 1 aandoening |
| PLAG1PLAG1 zinc finger | Vaak (30–79%) | In 1 aandoening |
| POGZpogo transposable element derived with ZNF domain | Vaak (30–79%) | In 1 aandoening |
| POLR1ARNA polymerase I subunit A | Vaak (30–79%) | In 1 aandoening |
| POMT1protein O-mannosyltransferase 1 | Vaak (30–79%) | In 2 aandoeningen |
| POMT2protein O-mannosyltransferase 2 | Vaak (30–79%) | In 2 aandoeningen |
| PORcytochrome p450 oxidoreductase | Vaak (30–79%) | In 2 aandoeningen |
| PPFIA3PPFI scaffold protein A3 | Vaak (30–79%) | In 1 aandoening |
| PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D | Vaak (30–79%) | In 1 aandoening |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Vaak (30–79%) | In 1 aandoening |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Vaak (30–79%) | In 1 aandoening |
| PRKG2protein kinase cGMP-dependent 2 | Vaak (30–79%) | In 1 aandoening |
| PRR12proline rich 12 | Vaak (30–79%) | In 1 aandoening |
| PTBP1polypyrimidine tract binding protein 1 | Vaak (30–79%) | In 1 aandoening |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Vaak (30–79%) | In 1 aandoening |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Vaak (30–79%) | In 2 aandoeningen |
| PUM1pumilio RNA binding family member 1 | Vaak (30–79%) | In 1 aandoening |
| PUS7pseudouridine synthase 7 | Vaak (30–79%) | In 1 aandoening |
| PYCR1pyrroline-5-carboxylate reductase 1 | Vaak (30–79%) | In 1 aandoening |
| PYCR2pyrroline-5-carboxylate reductase 2 | Vaak (30–79%) | In 2 aandoeningen |
| QARS1glutaminyl-tRNA synthetase 1 | Vaak (30–79%) | In 1 aandoening |
| QRICH1glutamine rich 1 | Vaak (30–79%) | In 1 aandoening |
| RAB34RAB34, member RAS oncogene family | Vaak (30–79%) | In 1 aandoening |
| RAD21RAD21 cohesin complex component | Vaak (30–79%) | In 1 aandoening |
| RAP1BRAP1B, member of RAS oncogene family | Vaak (30–79%) | In 1 aandoening |
| RB1RB transcriptional corepressor 1 | Vaak (30–79%) | In 1 aandoening |
| RBM10RNA binding motif protein 10 | Vaak (30–79%) | In 1 aandoening |
| RBSNrabenosyn, RAB effector | Vaak (30–79%) | In 1 aandoening |
| RDH11retinol dehydrogenase 11 | Vaak (30–79%) | In 1 aandoening |
| RELREL proto-oncogene, NF-kB subunit | Vaak (30–79%) | In 1 aandoening |
| RELNreelin | Vaak (30–79%) | In 1 aandoening |
| RIPK4receptor interacting serine/threonine kinase 4 | Vaak (30–79%) | In 1 aandoening |
| ROR2ROR family WNT receptor 2 | Vaak (30–79%) | In 1 aandoening |
| RPL17ribosomal protein L17 | 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 |
| RYR1ryanodine receptor 1 | Vaak (30–79%) | In 1 aandoening |
| SCNM1sodium channel modifier 1 | Vaak (30–79%) | In 1 aandoening |
| SEPHS1selenophosphate synthetase 1 | Vaak (30–79%) | In 1 aandoening |
| SETBP1SET binding protein 1 | Vaak (30–79%) | In 3 aandoeningen |
| SETD5SET domain containing 5 | Vaak (30–79%) | In 1 aandoening |
| SMAD2SMAD family member 2 | Vaak (30–79%) | In 1 aandoening |
| SMARCD2SWI/SNF related BAF chromatin remodeling complex subunit D2 | Vaak (30–79%) | In 1 aandoening |
| SMC3structural maintenance of chromosomes 3 | Vaak (30–79%) | In 1 aandoening |
| SMG9SMG9 nonsense mediated mRNA decay factor | Vaak (30–79%) | In 1 aandoening |
| SOX9SRY-box transcription factor 9 | Vaak (30–79%) | In 2 aandoeningen |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Vaak (30–79%) | In 1 aandoening |
| SPOPspeckle type BTB/POZ protein | Vaak (30–79%) | In 1 aandoening |
| SRCAPSnf2 related CREBBP activator protein | Vaak (30–79%) | In 2 aandoeningen |
| STRA6signaling receptor and transporter of retinol STRA6 | Vaak (30–79%) | In 2 aandoeningen |
| TAOK1TAO kinase 1 | Vaak (30–79%) | In 1 aandoening |
| TBC1D24TBC1 domain family member 24 | Vaak (30–79%) | In 2 aandoeningen |
| TBC1D32TBC1 domain family member 32 | Vaak (30–79%) | In 1 aandoening |
| TBX2T-box transcription factor 2 | Vaak (30–79%) | In 1 aandoening |
| TGDSTDP-glucose 4,6-dehydratase | Vaak (30–79%) | In 1 aandoening |
| TGFBR1transforming growth factor beta receptor 1 | Vaak (30–79%) | In 1 aandoening |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Vaak (30–79%) | In 2 aandoeningen |
| TTC5tetratricopeptide repeat domain 5 | Vaak (30–79%) | In 1 aandoening |
| TWIST1twist family bHLH transcription factor 1 | Vaak (30–79%) | In 3 aandoeningen |
| TWIST2twist family bHLH transcription factor 2 | Vaak (30–79%) | In 2 aandoeningen |
| TXNDC15thioredoxin domain containing 15 | Vaak (30–79%) | In 1 aandoening |
| UBR7ubiquitin protein ligase E3 component n-recognin 7 | Vaak (30–79%) | In 1 aandoening |
| UGP2UDP-glucose pyrophosphorylase 2 | Vaak (30–79%) | In 1 aandoening |
| VAC14VAC14 component of PIKFYVE complex | Vaak (30–79%) | In 1 aandoening |
| VARS1valyl-tRNA synthetase 1 | Vaak (30–79%) | In 1 aandoening |
| VPS35LVPS35 endosomal protein sorting factor like | Vaak (30–79%) | In 1 aandoening |
| WASHC4WASH complex subunit 4 | Vaak (30–79%) | In 1 aandoening |
| WASHC5WASH complex subunit 5 | Vaak (30–79%) | In 2 aandoeningen |
| WBP4WW domain binding protein 4 | Vaak (30–79%) | In 1 aandoening |
| WDR37WD repeat domain 37 | Vaak (30–79%) | In 1 aandoening |
| WNT4Wnt family member 4 | Vaak (30–79%) | In 1 aandoening |
| WNT5AWnt family member 5A | Vaak (30–79%) | In 2 aandoeningen |
| XPO1exportin 1 | Vaak (30–79%) | In 1 aandoening |
| XYLT2xylosyltransferase 2 | Vaak (30–79%) | In 2 aandoeningen |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Vaak (30–79%) | In 1 aandoening |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Vaak (30–79%) | In 1 aandoening |
| ACTA1actin alpha 1, skeletal muscle | Soms (5–29%) | In 2 aandoeningen |
| ADARadenosine deaminase RNA specific | Soms (5–29%) | In 1 aandoening |
| ADAT3adenosine deaminase tRNA specific 3 | Soms (5–29%) | In 1 aandoening |
| ADNPactivity dependent neuroprotector homeobox | Soms (5–29%) | In 2 aandoeningen |
| AFF3ALF transcription elongation factor 3 | Soms (5–29%) | In 1 aandoening |
| AHI1Abelson helper integration site 1 | Soms (5–29%) | In 2 aandoeningen |
| AKT1AKT serine/threonine kinase 1 | Soms (5–29%) | In 1 aandoening |
| ALG6ALG6 alpha-1,3-glucosyltransferase | Soms (5–29%) | In 1 aandoening |
| AMER1APC membrane recruitment protein 1 | Soms (5–29%) | In 2 aandoeningen |
| ARL13BARF like GTPase 13B | Soms (5–29%) | In 1 aandoening |
| ARL3ARF like GTPase 3 | Soms (5–29%) | In 2 aandoeningen |
| ARMC9armadillo repeat containing 9 | Soms (5–29%) | In 1 aandoening |
| ATP2B1ATPase plasma membrane Ca2+ transporting 1 | Soms (5–29%) | In 1 aandoening |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Soms (5–29%) | In 1 aandoening |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Soms (5–29%) | In 1 aandoening |
| B9D1B9 domain containing 1 | Soms (5–29%) | In 1 aandoening |
| B9D2B9 domain containing 2 | Soms (5–29%) | In 1 aandoening |
| BAP1BRCA1 associated deubiquitinase 1 | Soms (5–29%) | In 1 aandoening |
| BMPR1Abone morphogenetic protein receptor type 1A | Soms (5–29%) | In 1 aandoening |
| BRCC3BRCA1/BRCA2-containing complex subunit 3 | Soms (5–29%) | In 1 aandoening |
| BRD4bromodomain containing 4 | Soms (5–29%) | In 1 aandoening |
| CBY1chibby 1, beta catenin antagonist | Soms (5–29%) | In 1 aandoening |
| CC2D2Acoiled-coil and C2 domain containing 2A | Soms (5–29%) | In 1 aandoening |
| CCDC47coiled-coil domain containing 47 | Soms (5–29%) | In 1 aandoening |
| CCNQcyclin Q | Soms (5–29%) | In 1 aandoening |
| CDC42BPBCDC42 binding protein kinase beta | Soms (5–29%) | In 1 aandoening |
| CDCA7cell division cycle associated 7 | Soms (5–29%) | In 2 aandoeningen |
| CDK13cyclin dependent kinase 13 | Soms (5–29%) | In 1 aandoening |
| CEP104centrosomal protein 104 | Soms (5–29%) | In 1 aandoening |
| CEP120centrosomal protein 120 | Soms (5–29%) | In 1 aandoening |
| CEP41centrosomal protein 41 | Soms (5–29%) | In 1 aandoening |
| CHD5chromodomain helicase DNA binding protein 5 | Soms (5–29%) | In 1 aandoening |
| CHMP1Acharged multivesicular body protein 1A | Soms (5–29%) | In 1 aandoening |
| CHSY1chondroitin sulfate synthase 1 | Soms (5–29%) | In 1 aandoening |
| CLCN3Cl-/H+ antiporter 3 | Soms (5–29%) | In 1 aandoening |
| CNOT1CCR4-NOT transcription complex subunit 1 | Soms (5–29%) | In 1 aandoening |
| CNOT3CCR4-NOT transcription complex subunit 3 | Soms (5–29%) | In 1 aandoening |
| COG3component of oligomeric golgi complex 3 | Soms (5–29%) | In 1 aandoening |
| COG8component of oligomeric golgi complex 8 | Soms (5–29%) | In 1 aandoening |
| COL4A1collagen type IV alpha 1 chain | Soms (5–29%) | In 1 aandoening |
| COLEC10collectin subfamily member 10 | Soms (5–29%) | In 1 aandoening |
| COLEC11collectin subfamily member 11 | Soms (5–29%) | In 1 aandoening |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Soms (5–29%) | In 2 aandoeningen |
| CRELD1CRELD disulfide isomerase 1 | Soms (5–29%) | In 1 aandoening |
| CRPPACDP-L-ribitol pyrophosphorylase A | Soms (5–29%) | In 2 aandoeningen |
| CSPP1centrosome and spindle pole associated protein 1 | Soms (5–29%) | In 2 aandoeningen |
| CTCFCCCTC-binding factor | Soms (5–29%) | In 1 aandoening |
| CTNNB1catenin beta 1 | Soms (5–29%) | In 1 aandoening |
| CUX1cut like homeobox 1 | Soms (5–29%) | In 1 aandoening |
| DAG1dystroglycan 1 | Soms (5–29%) | In 1 aandoening |
| DDB1damage specific DNA binding protein 1 | Soms (5–29%) | In 1 aandoening |
| DDX3XDEAD-box helicase 3 X-linked | Soms (5–29%) | In 1 aandoening |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Soms (5–29%) | In 1 aandoening |
| DHPSdeoxyhypusine synthase | Soms (5–29%) | In 1 aandoening |
| DHX30DExH-box helicase 30 | Soms (5–29%) | In 1 aandoening |
| DNMT3BDNA methyltransferase 3 beta | Soms (5–29%) | In 2 aandoeningen |
| DVL3dishevelled segment polarity protein 3 | Soms (5–29%) | In 2 aandoeningen |
| EDEM3ER degradation enhancing alpha-mannosidase like protein 3 | Soms (5–29%) | In 1 aandoening |
| ELNelastin | Soms (5–29%) | In 1 aandoening |
| EPG5ectopic P-granules 5 autophagy tethering factor | Soms (5–29%) | In 1 aandoening |
| EXOC7exocyst complex component 7 | Soms (5–29%) | In 1 aandoening |
| FANCD2FA complementation group D2 | Soms (5–29%) | In 1 aandoening |
| FBLN5fibulin 5 | Soms (5–29%) | In 1 aandoening |
| FBXL4F-box and leucine rich repeat protein 4 | Soms (5–29%) | In 1 aandoening |
| FBXO11F-box protein 11 | Soms (5–29%) | In 1 aandoening |
| FGF10fibroblast growth factor 10 | Soms (5–29%) | In 1 aandoening |
| FGFR3fibroblast growth factor receptor 3 | Soms (5–29%) | In 2 aandoeningen |
| FOXE1forkhead box E1 | Soms (5–29%) | In 1 aandoening |
| FOXF1forkhead box F1 | Soms (5–29%) | In 1 aandoening |
| FOXP2forkhead box P2 | Soms (5–29%) | In 1 aandoening |
| FREM2FRAS1 related extracellular matrix 2 | Soms (5–29%) | In 1 aandoening |
| FRYLFRY like transcription coactivator | Soms (5–29%) | In 1 aandoening |
| FZD2frizzled class receptor 2 | Soms (5–29%) | In 1 aandoening |
| GABRA3gamma-aminobutyric acid type A receptor subunit alpha3 | Soms (5–29%) | In 1 aandoening |
| GAD1glutamate decarboxylase 1 | Soms (5–29%) | In 1 aandoening |
| GLB1galactosidase beta 1 | Soms (5–29%) | In 1 aandoening |
| GNB2G protein subunit beta 2 | Soms (5–29%) | In 1 aandoening |
| GTF3C3general transcription factor IIIC subunit 3 | Soms (5–29%) | In 1 aandoening |
| H3-3AH3.3 histone A | Soms (5–29%) | In 1 aandoening |
| H4C5H4 clustered histone 5 | Soms (5–29%) | In 1 aandoening |
| HELLShelicase, lymphoid specific | Soms (5–29%) | In 1 aandoening |
| IFIH1interferon induced with helicase C domain 1 | Soms (5–29%) | In 1 aandoening |
| IFT74intraflagellar transport 74 | Soms (5–29%) | In 1 aandoening |
| INPPL1inositol polyphosphate phosphatase like 1 | Soms (5–29%) | In 1 aandoening |
| INSRinsulin receptor | Soms (5–29%) | In 2 aandoeningen |
| IPO8importin 8 | Soms (5–29%) | In 1 aandoening |
| JARID2jumonji and AT-rich interaction domain containing 2 | Soms (5–29%) | In 1 aandoening |
| KATNIPkatanin interacting protein | Soms (5–29%) | In 1 aandoening |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Soms (5–29%) | In 1 aandoening |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Soms (5–29%) | In 2 aandoeningen |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Soms (5–29%) | In 1 aandoening |
| KCTD1potassium channel tetramerization domain containing 1 | Soms (5–29%) | In 1 aandoening |
| KDM4Blysine demethylase 4B | Soms (5–29%) | In 1 aandoening |
| KDM5Alysine demethylase 5A | Soms (5–29%) | In 1 aandoening |
| KIAA0586KIAA0586 | Soms (5–29%) | In 3 aandoeningen |
| KIF15kinesin family member 15 | Soms (5–29%) | In 1 aandoening |
| KIF26Akinesin family member 26A | Soms (5–29%) | In 1 aandoening |
| KLHL40kelch like family member 40 | Soms (5–29%) | In 1 aandoening |
| KLHL41kelch like family member 41 | Soms (5–29%) | In 2 aandoeningen |
| KMT2Alysine methyltransferase 2A | Soms (5–29%) | In 2 aandoeningen |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Soms (5–29%) | In 1 aandoening |
| LMOD3leiomodin 3 | Soms (5–29%) | In 1 aandoening |
| LMX1BLIM homeobox transcription factor 1 beta | Soms (5–29%) | In 1 aandoening |
| LRPPRCleucine rich pentatricopeptide repeat containing | Soms (5–29%) | In 1 aandoening |
| LRRC7leucine rich repeat containing 7 | Soms (5–29%) | In 1 aandoening |
| LSM11LSM11, U7 small nuclear RNA associated | Soms (5–29%) | In 1 aandoening |
| MACF1microtubule actin crosslinking factor 1 | Soms (5–29%) | In 1 aandoening |
| MADDMAP kinase activating death domain | Soms (5–29%) | In 1 aandoening |
| MARK2microtubule affinity regulating kinase 2 | Soms (5–29%) | In 1 aandoening |
| MASP1MBL associated serine protease 1 | Soms (5–29%) | In 1 aandoening |
| MAU2MAU2 sister chromatid cohesion factor | Soms (5–29%) | In 1 aandoening |
| MED25mediator complex subunit 25 | Soms (5–29%) | In 2 aandoeningen |
| MED27mediator complex subunit 27 | Soms (5–29%) | In 1 aandoening |
| MEIS2Meis homeobox 2 | Soms (5–29%) | In 2 aandoeningen |
| MESDmesoderm development LRP chaperone | Soms (5–29%) | In 1 aandoening |
| MID1midline 1 | Soms (5–29%) | In 2 aandoeningen |
| MINPP1multiple inositol-polyphosphate phosphatase 1 | Soms (5–29%) | In 1 aandoening |
| MKS1MKS transition zone complex subunit 1 | Soms (5–29%) | In 2 aandoeningen |
| MSL2MSL complex subunit 2 | Soms (5–29%) | In 1 aandoening |
| MTHFRmethylenetetrahydrofolate reductase | Soms (5–29%) | In 1 aandoening |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Soms (5–29%) | In 3 aandoeningen |
| NAA20N-alpha-acetyltransferase 20, NatB catalytic subunit | Soms (5–29%) | In 1 aandoening |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Soms (5–29%) | In 1 aandoening |
| NARS1asparaginyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| NEBnebulin | Soms (5–29%) | In 3 aandoeningen |
| NEK9NIMA related kinase 9 | Soms (5–29%) | In 1 aandoening |
| NGLY1N-glycanase 1 | Soms (5–29%) | In 1 aandoening |
| NSRP1nuclear speckle splicing regulatory protein 1 | Soms (5–29%) | In 1 aandoening |
| NTNG2netrin G2 | Soms (5–29%) | In 1 aandoening |
| PAX7paired box 7 | Soms (5–29%) | In 1 aandoening |
| PCDHGC4protocadherin gamma subfamily C, 4 | Soms (5–29%) | In 1 aandoening |
| PDE6Dphosphodiesterase 6D | Soms (5–29%) | In 1 aandoening |
| PDZD8PDZ domain containing 8 | Soms (5–29%) | In 1 aandoening |
| PIBF1progesterone immunomodulatory binding factor 1 | Soms (5–29%) | In 1 aandoening |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Soms (5–29%) | In 1 aandoening |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Soms (5–29%) | In 2 aandoeningen |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Soms (5–29%) | In 1 aandoening |
| PLAAT3phospholipase A and acyltransferase 3 | Soms (5–29%) | In 1 aandoening |
| PLCB4phospholipase C beta 4 | Soms (5–29%) | In 1 aandoening |
| PLCH1phospholipase C eta 1 | Soms (5–29%) | In 1 aandoening |
| PLXND1plexin D1 | Soms (5–29%) | In 1 aandoening |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Soms (5–29%) | In 1 aandoening |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Soms (5–29%) | In 1 aandoening |
| POMKprotein O-mannose kinase | Soms (5–29%) | In 1 aandoening |
| PORCNporcupine O-acyltransferase | Soms (5–29%) | In 2 aandoeningen |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Soms (5–29%) | In 1 aandoening |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Soms (5–29%) | In 1 aandoening |
| PRKDCprotein kinase, DNA-activated, catalytic subunit | Soms (5–29%) | In 1 aandoening |
| PRUNE1prune exopolyphosphatase 1 | Soms (5–29%) | In 1 aandoening |
| PTENphosphatase and tensin homolog | Soms (5–29%) | In 1 aandoening |
| PURApurine rich element binding protein A | Soms (5–29%) | In 1 aandoening |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Soms (5–29%) | In 1 aandoening |
| RAC1Rac family small GTPase 1 | Soms (5–29%) | In 1 aandoening |
| RALGAPA1Ral GTPase activating protein catalytic subunit alpha 1 | Soms (5–29%) | In 1 aandoening |
| REREarginine-glutamic acid dipeptide repeats | Soms (5–29%) | In 1 aandoening |
| RNASEH2Aribonuclease H2 subunit A | Soms (5–29%) | In 2 aandoeningen |
| RNASEH2Bribonuclease H2 subunit B | Soms (5–29%) | In 1 aandoening |
| RNASEH2Cribonuclease H2 subunit C | Soms (5–29%) | In 1 aandoening |
| RNU4-2RNA, U4 small nuclear 2 | Soms (5–29%) | In 1 aandoening |
| RNU7-1RNA, U7 small nuclear 1 | Soms (5–29%) | In 1 aandoening |
| RPGRIP1LRPGRIP1 like | Soms (5–29%) | In 1 aandoening |
| RPL10ribosomal protein L10 | Soms (5–29%) | In 1 aandoening |
| RPS26ribosomal protein S26 | Soms (5–29%) | In 2 aandoeningen |
| RRAGCRas related GTP binding C | Soms (5–29%) | In 1 aandoening |
| RXYLT1ribitol xylosyltransferase 1 | Soms (5–29%) | In 1 aandoening |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Soms (5–29%) | In 1 aandoening |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Soms (5–29%) | In 1 aandoening |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Soms (5–29%) | In 1 aandoening |
| SGSM3small G protein signaling modulator 3 | Soms (5–29%) | In 1 aandoening |
| SIM1SIM bHLH transcription factor 1 | Soms (5–29%) | In 1 aandoening |
| SLC1A4solute carrier family 1 member 4 | Soms (5–29%) | In 1 aandoening |
| SLC26A2solute carrier family 26 member 2 | Soms (5–29%) | In 2 aandoeningen |
| SLC39A8solute carrier family 39 member 8 | Soms (5–29%) | In 1 aandoening |
| SLC4A10solute carrier family 4 member 10 | Soms (5–29%) | In 1 aandoening |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Soms (5–29%) | In 1 aandoening |
| SMC5structural maintenance of chromosomes 5 | Soms (5–29%) | In 1 aandoening |
| SMG8SMG8 nonsense mediated mRNA decay factor | Soms (5–29%) | In 1 aandoening |
| SMPD1sphingomyelin phosphodiesterase 1 | Soms (5–29%) | In 1 aandoening |
| SMSspermine synthase | Soms (5–29%) | In 1 aandoening |
| SONSON DNA and RNA binding protein | Soms (5–29%) | In 2 aandoeningen |
| SOX4SRY-box transcription factor 4 | Soms (5–29%) | In 1 aandoening |
| SOX6SRY-box transcription factor 6 | Soms (5–29%) | In 1 aandoening |
| SPARTspartin | Soms (5–29%) | In 1 aandoening |
| SPENspen family transcriptional repressor | Soms (5–29%) | In 1 aandoening |
| SPINT2serine peptidase inhibitor, Kunitz type 2 | Soms (5–29%) | In 1 aandoening |
| SRRM2serine/arginine repetitive matrix 2 | Soms (5–29%) | In 1 aandoening |
| STAG1STAG1 cohesin complex component | Soms (5–29%) | In 1 aandoening |
| STAG2STAG2 cohesin complex component | Soms (5–29%) | In 2 aandoeningen |
| STXBP1syntaxin binding protein 1 | Soms (5–29%) | In 1 aandoening |
| SUFUSUFU negative regulator of hedgehog signaling | Soms (5–29%) | In 1 aandoening |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Soms (5–29%) | In 1 aandoening |
| TBCKTBC1 domain containing kinase | Soms (5–29%) | In 1 aandoening |
| TCTN1tectonic family member 1 | Soms (5–29%) | In 1 aandoening |
| TCTN2tectonic family member 2 | Soms (5–29%) | In 2 aandoeningen |
| TEFMtranscription elongation factor, mitochondrial | Soms (5–29%) | In 1 aandoening |
| TMEM218transmembrane protein 218 | Soms (5–29%) | In 1 aandoening |
| TMEM237transmembrane protein 237 | Soms (5–29%) | In 2 aandoeningen |
| TMEM260transmembrane protein 260 | Soms (5–29%) | In 1 aandoening |
| TMEM67transmembrane protein 67 | Soms (5–29%) | In 2 aandoeningen |
| TOE1target of EGR1, exonuclease | Soms (5–29%) | In 1 aandoening |
| TPM3tropomyosin 3 | Soms (5–29%) | In 1 aandoening |
| TRAF7TNF receptor associated factor 7 | Soms (5–29%) | In 1 aandoening |
| TREX1three prime repair exonuclease 1 | Soms (5–29%) | In 1 aandoening |
| TRIP12thyroid hormone receptor interactor 12 | Soms (5–29%) | In 1 aandoening |
| TRIP13thyroid hormone receptor interactor 13 | Soms (5–29%) | In 1 aandoening |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Soms (5–29%) | In 1 aandoening |
| TSPEARthrombospondin type laminin G domain and EAR repeats | Soms (5–29%) | In 1 aandoening |
| TTI1TELO2 interacting protein 1 | Soms (5–29%) | In 1 aandoening |
| TUBB3tubulin beta 3 class III | Soms (5–29%) | In 1 aandoening |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Soms (5–29%) | In 1 aandoening |
| UHRF1ubiquitin like with PHD and ring finger domains 1 | Soms (5–29%) | In 1 aandoening |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Soms (5–29%) | In 1 aandoening |
| USP7ubiquitin specific peptidase 7 | Soms (5–29%) | In 1 aandoening |
| USP9Xubiquitin specific peptidase 9 X-linked | Soms (5–29%) | In 2 aandoeningen |
| VANGL2VANGL planar cell polarity protein 2 | Soms (5–29%) | In 1 aandoening |
| VIPAS39VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog | Soms (5–29%) | In 2 aandoeningen |
| VPS33BVPS33B late endosome and lysosome associated | Soms (5–29%) | In 2 aandoeningen |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Soms (5–29%) | In 1 aandoening |
| WBP11WW domain binding protein 11 | Soms (5–29%) | In 1 aandoening |
| WNT7BWnt family member 7B | Soms (5–29%) | In 1 aandoening |
| YY1YY1 transcription factor | Soms (5–29%) | In 2 aandoeningen |
| ZBTB24zinc finger and BTB domain containing 24 | Soms (5–29%) | In 2 aandoeningen |
| ZDHHC9zDHHC palmitoyltransferase 9 | Soms (5–29%) | In 1 aandoening |
| ZFXzinc finger protein X-linked | Soms (5–29%) | In 1 aandoening |
| ZIC3Zic family zinc finger 3 | Soms (5–29%) | In 1 aandoening |
| ZMYM2zinc finger MYM-type containing 2 | Soms (5–29%) | In 1 aandoening |
| ZNF148zinc finger protein 148 | Soms (5–29%) | In 1 aandoening |
| ZNF292zinc finger protein 292 | Soms (5–29%) | In 1 aandoening |
| ZNF462zinc finger protein 462 | Soms (5–29%) | In 2 aandoeningen |
| ZNF699zinc finger protein 699 | Soms (5–29%) | In 1 aandoening |
| ZSWIM6zinc finger SWIM-type containing 6 | Soms (5–29%) | In 1 aandoening |
| ADA2adenosine deaminase 2 | Zelden (1–4%) | In 1 aandoening |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Zelden (1–4%) | In 1 aandoening |
| DZIP1LDAZ interacting zinc finger protein 1 like | Zelden (1–4%) | In 1 aandoening |
| GATA1GATA binding protein 1 | Zelden (1–4%) | In 1 aandoening |
| GJA5gap junction protein alpha 5 | Zelden (1–4%) | In 1 aandoening |
| GJA8gap junction protein alpha 8 | Zelden (1–4%) | In 1 aandoening |
| MMACHCmetabolism of cobalamin associated C | Zelden (1–4%) | In 2 aandoeningen |
| PKHD1PKHD1 ciliary IPT domain containing fibrocystin/polyductin | Zelden (1–4%) | In 1 aandoening |
| RPL11ribosomal protein L11 | Zelden (1–4%) | In 1 aandoening |
| RPL15ribosomal protein L15 | Zelden (1–4%) | In 1 aandoening |
| RPL18ribosomal protein L18 | Zelden (1–4%) | In 1 aandoening |
| RPL26ribosomal protein L26 | Zelden (1–4%) | In 1 aandoening |
| RPL27ribosomal protein L27 | Zelden (1–4%) | In 1 aandoening |
| RPL31ribosomal protein L31 | Zelden (1–4%) | In 1 aandoening |
| RPL35ribosomal protein L35 | Zelden (1–4%) | In 1 aandoening |
| RPL35Aribosomal protein L35a | Zelden (1–4%) | In 2 aandoeningen |
| RPL5ribosomal protein L5 | Zelden (1–4%) | In 1 aandoening |
| RPL8ribosomal protein L8 | Zelden (1–4%) | In 1 aandoening |
| RPL9ribosomal protein L9 | Zelden (1–4%) | In 1 aandoening |
| RPS10ribosomal protein S10 | Zelden (1–4%) | In 1 aandoening |
| RPS15Aribosomal protein S15a | Zelden (1–4%) | In 1 aandoening |
| RPS17ribosomal protein S17 | Zelden (1–4%) | In 1 aandoening |
| RPS19ribosomal protein S19 | Zelden (1–4%) | In 1 aandoening |
| RPS20ribosomal protein S20 | Zelden (1–4%) | In 1 aandoening |
| RPS24ribosomal protein S24 | Zelden (1–4%) | In 1 aandoening |
| RPS27ribosomal protein S27 | Zelden (1–4%) | In 1 aandoening |
| RPS28ribosomal protein S28 | Zelden (1–4%) | In 1 aandoening |
| RPS29ribosomal protein S29 | Zelden (1–4%) | In 1 aandoening |
| RPS7ribosomal protein S7 | Zelden (1–4%) | In 1 aandoening |
| TMEM147transmembrane protein 147 | Zelden (1–4%) | In 1 aandoening |
| TSR2TSR2 ribosome maturation factor | Zelden (1–4%) | In 1 aandoening |
| ACP5acid phosphatase 5, tartrate resistant | Niet vastgelegd | In 1 aandoening |
| ACTBactin beta | Niet vastgelegd | In 1 aandoening |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Niet vastgelegd | In 1 aandoening |
| ALX3ALX homeobox 3 | Niet vastgelegd | In 1 aandoening |
| ARID1BAT-rich interaction domain 1B | Niet vastgelegd | In 1 aandoening |
| ARXaristaless related homeobox | Niet vastgelegd | In 1 aandoening |
| ATN1atrophin 1 | Niet vastgelegd | In 1 aandoening |
| ATRATR checkpoint kinase | Niet vastgelegd | In 1 aandoening |
| B3GLCTbeta 3-glucosyltransferase | Niet vastgelegd | In 1 aandoening |
| BCORBCL6 corepressor | Niet vastgelegd | In 1 aandoening |
| BLTP1bridge-like lipid transfer protein family member 1 | Niet vastgelegd | In 1 aandoening |
| BMP4bone morphogenetic protein 4 | Niet vastgelegd | In 1 aandoening |
| BMPERBMP binding endothelial regulator | Niet vastgelegd | In 1 aandoening |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Niet vastgelegd | In 1 aandoening |
| C12orf57chromosome 12 open reading frame 57 | Niet vastgelegd | In 1 aandoening |
| C2CD3C2 domain containing 3 centriole elongation regulator | Niet vastgelegd | In 1 aandoening |
| CAMK2Gcalcium/calmodulin dependent protein kinase II gamma | Niet vastgelegd | In 1 aandoening |
| CAMTA1calmodulin binding transcription activator 1 | Niet vastgelegd | In 1 aandoening |
| CBLCbl proto-oncogene | Niet vastgelegd | In 1 aandoening |
| CCN2cellular communication network factor 2 | Niet vastgelegd | In 1 aandoening |
| CD96CD96 molecule | Niet vastgelegd | In 1 aandoening |
| CDC42cell division cycle 42 | Niet vastgelegd | In 1 aandoening |
| CDH11cadherin 11 | Niet vastgelegd | In 1 aandoening |
| CENPFcentromere protein F | Niet vastgelegd | In 1 aandoening |
| CHD3chromodomain helicase DNA binding protein 3 | Niet vastgelegd | In 1 aandoening |
| CHD4chromodomain helicase DNA binding protein 4 | Niet vastgelegd | In 1 aandoening |
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Niet vastgelegd | In 1 aandoening |
| CHRNDcholinergic receptor nicotinic delta subunit | Niet vastgelegd | In 1 aandoening |
| CNTNAP1contactin associated protein 1 | Niet vastgelegd | In 1 aandoening |
| CPT2carnitine palmitoyltransferase 2 | Niet vastgelegd | In 1 aandoening |
| CRLF1cytokine receptor like factor 1 | Niet vastgelegd | In 1 aandoening |
| DDR2discoidin domain receptor tyrosine kinase 2 | Niet vastgelegd | In 1 aandoening |
| DHODHdihydroorotate dehydrogenase (quinone) | Niet vastgelegd | In 1 aandoening |
| DOCK6dedicator of cytokinesis 6 | Niet vastgelegd | In 1 aandoening |
| EDNRAendothelin receptor type A | Niet vastgelegd | In 1 aandoening |
| EEDembryonic ectoderm development | Niet vastgelegd | In 1 aandoening |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Niet vastgelegd | In 1 aandoening |
| EIF4A3eukaryotic translation initiation factor 4A3 | Niet vastgelegd | In 1 aandoening |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Niet vastgelegd | In 1 aandoening |
| EXOSC9exosome component 9 | Niet vastgelegd | In 1 aandoening |
| EYA1EYA transcriptional coactivator and phosphatase 1 | Niet vastgelegd | In 1 aandoening |
| FHL1four and a half LIM domains 1 | Niet vastgelegd | In 1 aandoening |
| FRAS1Fraser extracellular matrix complex subunit 1 | Niet vastgelegd | In 1 aandoening |
| FRMD4AFERM domain containing 4A | Niet vastgelegd | In 1 aandoening |
| GBA1glucosylceramidase beta 1 | Niet vastgelegd | In 1 aandoening |
| GJA1gap junction protein alpha 1 | Niet vastgelegd | In 1 aandoening |
| GKglycerol kinase | Niet vastgelegd | In 1 aandoening |
| GLE1GLE1 RNA export mediator | Niet vastgelegd | In 1 aandoening |
| GLIS3GLIS family zinc finger 3 | Niet vastgelegd | In 1 aandoening |
| GNAI3G protein subunit alpha i3 | Niet vastgelegd | In 1 aandoening |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Niet vastgelegd | In 1 aandoening |
| HRASHRas proto-oncogene, GTPase | Niet vastgelegd | In 1 aandoening |
| IGF1Rinsulin like growth factor 1 receptor | Niet vastgelegd | In 1 aandoening |
| KIFBPkinesin family binding protein | Niet vastgelegd | In 1 aandoening |
| LMBRD1LMBR1 domain containing 1 | Niet vastgelegd | In 1 aandoening |
| LRRC8Aleucine rich repeat containing 8 VRAC subunit A | Niet vastgelegd | In 1 aandoening |
| MAGEL2MAGE family member L2 | Niet vastgelegd | In 1 aandoening |
| MBD5methyl-CpG binding domain protein 5 | Niet vastgelegd | In 1 aandoening |
| MECP2methyl-CpG binding protein 2 | Niet vastgelegd | In 1 aandoening |
| MEF2Cmyocyte enhancer factor 2C | Niet vastgelegd | In 1 aandoening |
| MRPS22mitochondrial ribosomal protein S22 | Niet vastgelegd | In 1 aandoening |
| MVKmevalonate kinase | Niet vastgelegd | In 1 aandoening |
| MYSM1Myb like, SWIRM and MPN domains 1 | Niet vastgelegd | In 1 aandoening |
| NFIAnuclear factor I A | Niet vastgelegd | In 1 aandoening |
| OCLNoccludin | Niet vastgelegd | In 1 aandoening |
| OSGEPO-sialoglycoprotein endopeptidase | Niet vastgelegd | In 1 aandoening |
| PAM16presequence translocase associated motor 16 | Niet vastgelegd | In 1 aandoening |
| PBX1PBX homeobox 1 | Niet vastgelegd | In 1 aandoening |
| PCLOpiccolo presynaptic cytomatrix protein | Niet vastgelegd | In 1 aandoening |
| PEX2peroxisomal biogenesis factor 2 | Niet vastgelegd | In 1 aandoening |
| PEX5peroxisomal biogenesis factor 5 | Niet vastgelegd | In 1 aandoening |
| PHOX2Bpaired like homeobox 2B | Niet vastgelegd | In 1 aandoening |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Niet vastgelegd | In 1 aandoening |
| PRDX1peroxiredoxin 1 | Niet vastgelegd | In 1 aandoening |
| RAB23RAB23, member RAS oncogene family | Niet vastgelegd | In 1 aandoening |
| RALARAS like proto-oncogene A | Niet vastgelegd | In 1 aandoening |
| RECQL4RecQ like helicase 4 | Niet vastgelegd | In 1 aandoening |
| RSPO2R-spondin 2 | Niet vastgelegd | In 1 aandoening |
| SEPTIN9septin 9 | Niet vastgelegd | In 1 aandoening |
| SF3B4splicing factor 3b subunit 4 | Niet vastgelegd | In 1 aandoening |
| SKIC3SKI3 subunit of superkiller complex | Niet vastgelegd | In 1 aandoening |
| SLC6A9solute carrier family 6 member 9 | Niet vastgelegd | In 1 aandoening |
| SMAD4SMAD family member 4 | Niet vastgelegd | In 1 aandoening |
| SMOC1SPARC related modular calcium binding 1 | Niet vastgelegd | In 1 aandoening |
| SNRPBsmall nuclear ribonucleoprotein polypeptides B and B1 | Niet vastgelegd | In 1 aandoening |
| SOX5SRY-box transcription factor 5 | Niet vastgelegd | In 1 aandoening |
| SPRED1sprouty related EVH1 domain containing 1 | Niet vastgelegd | In 1 aandoening |
| SRD5A3steroid 5 alpha-reductase 3 | Niet vastgelegd | In 1 aandoening |
| STAMBPSTAM binding protein | Niet vastgelegd | In 1 aandoening |
| TALDO1transaldolase 1 | Niet vastgelegd | In 1 aandoening |
| TAPT1transmembrane anterior posterior transformation 1 | Niet vastgelegd | In 1 aandoening |
| TBCEtubulin folding cofactor E | Niet vastgelegd | In 1 aandoening |
| TCF20transcription factor 20 | Niet vastgelegd | In 1 aandoening |
| TENM3teneurin transmembrane protein 3 | Niet vastgelegd | In 1 aandoening |
| TFAP2Atranscription factor AP-2 alpha | Niet vastgelegd | In 1 aandoening |
| TFAP2Btranscription factor AP-2 beta | Niet vastgelegd | In 1 aandoening |
| THUMPD1THUMP domain 1 NAT10 acetyltransferase adaptor | Niet vastgelegd | In 1 aandoening |
| TMEM165transmembrane protein 165 | Niet vastgelegd | In 1 aandoening |
| TMEM216transmembrane protein 216 | Niet vastgelegd | In 1 aandoening |
| TPM2tropomyosin 2 | Niet vastgelegd | In 1 aandoening |
| TRRAPtransformation/transcription domain associated protein | Niet vastgelegd | In 1 aandoening |
| UNC80unc-80 subunit of NALCN channel complex | Niet vastgelegd | In 1 aandoening |
| WDR73WD repeat domain 73 | Niet vastgelegd | In 1 aandoening |
| WNK3WNK lysine deficient protein kinase 3 | Niet vastgelegd | In 1 aandoening |
| WNT3Wnt family member 3 | Niet vastgelegd | In 1 aandoening |
| WNT7AWnt family member 7A | Niet vastgelegd | In 1 aandoening |
| ZC4H2zinc finger C4H2-type containing | Niet vastgelegd | In 2 aandoeningen |
| ZMIZ1zinc finger MIZ-type containing 1 | 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.
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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