Kenmerk
Little lower jaw
Klinische naam: Micrognathia
Developmental hypoplasia of the mandible.
Samenvatting
- Ook bekend als
- Small jaw, Small lower jaw, Decreased size of lower jaw, Decreased size of mandible, Hypoplasia of lower jaw, Hypoplasia of mandible, Hypoplastic mandible, Hypoplastic mandible condyle, Hypotrophic lower jaw, Hypotrophic mandible, Little mandible, Lower jaw deficiency, Lower jaw hypoplasia, Mandibular deficiency, Mandibular hypoplasia, Mandibular micrognathia, Micrognathia of lower jaw, Micromandible, Robin mandible, Severe hypoplasia of mandible, Small mandible, Underdevelopment of lower jaw, Underdevelopment of mandible
ReferentiegenoomGRCh38hg38
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Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Little lower jaw 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 |
|---|---|---|
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Altijd | In 1 aandoening |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Altijd | In 2 aandoeningen |
| AMMECR1AMMECR nuclear protein 1 | Altijd | In 1 aandoening |
| AMOTL1angiomotin like 1 | Altijd | In 1 aandoening |
| ANTXR1ANTXR cell adhesion molecule 1 | Altijd | In 2 aandoeningen |
| ARCN1archain 1 coat protein complex I subunit delta | Altijd | In 1 aandoening |
| ARID2AT-rich interaction domain 2 | Altijd | In 1 aandoening |
| ASPMassembly factor for spindle microtubules | Altijd | In 1 aandoening |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Altijd | In 1 aandoening |
| B3GALT6beta-1,3-galactosyltransferase 6 | Altijd | In 3 aandoeningen |
| BANF1barrier to autointegration nuclear assembly factor 1 | Altijd | In 1 aandoening |
| BLTP1bridge-like lipid transfer protein family member 1 | Altijd | In 1 aandoening |
| BPNT23'(2'), 5'-bisphosphate nucleotidase 2 | Altijd | In 1 aandoening |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Altijd | In 1 aandoening |
| CDC6cell division cycle 6 | Altijd | In 2 aandoeningen |
| CDK5cyclin dependent kinase 5 | Altijd | In 1 aandoening |
| CEP152centrosomal protein 152 | Altijd | In 2 aandoeningen |
| CEP57centrosomal protein 57 | Altijd | In 2 aandoeningen |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Altijd | In 1 aandoening |
| CHUKcomponent of inhibitor of nuclear factor kappa B kinase complex | Altijd | In 1 aandoening |
| CILK1ciliogenesis associated kinase 1 | 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 2 aandoeningen |
| COG7component of oligomeric golgi complex 7 | Altijd | In 2 aandoeningen |
| COL13A1collagen type XIII alpha 1 chain | Altijd | In 1 aandoening |
| COL6A2collagen type VI alpha 2 chain | Altijd | In 2 aandoeningen |
| CPEcarboxypeptidase E | Altijd | In 1 aandoening |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Altijd | In 1 aandoening |
| CTCFCCCTC-binding factor | Altijd | In 1 aandoening |
| CTU2cytosolic thiouridylase subunit 2 | Altijd | In 1 aandoening |
| DCHS1dachsous cadherin-related 1 | Altijd | In 2 aandoeningen |
| DNA2DNA replication helicase/nuclease 2 | Altijd | In 2 aandoeningen |
| DPH1diphthamide biosynthesis 1 | Altijd | In 2 aandoeningen |
| EBPEBP cholestenol delta-isomerase | Altijd | In 2 aandoeningen |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Altijd | In 1 aandoening |
| EIF4A2eukaryotic translation initiation factor 4A2 | Altijd | In 1 aandoening |
| EIF4A3eukaryotic translation initiation factor 4A3 | Altijd | In 1 aandoening |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Altijd | In 2 aandoeningen |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Altijd | In 2 aandoeningen |
Toon nog 794 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| ERI1exoribonuclease 1 | Altijd | In 1 aandoening |
| FBXO28F-box protein 28 | Altijd | In 1 aandoening |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Altijd | In 1 aandoening |
| FLNAfilamin A | Altijd | In 6 aandoeningen |
| FLNBfilamin B | Altijd | In 4 aandoeningen |
| FLVCR1FLVCR choline and heme transporter 1 | Altijd | In 1 aandoening |
| GJA1gap junction protein alpha 1 | Altijd | In 2 aandoeningen |
| GOLGA2golgin A2 | Altijd | In 1 aandoening |
| GRIP1glutamate receptor interacting protein 1 | Altijd | In 1 aandoening |
| GSCgoosecoid homeobox | Altijd | In 1 aandoening |
| HSPG2heparan sulfate proteoglycan 2 | Altijd | In 4 aandoeningen |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Altijd | In 2 aandoeningen |
| HYOU1hypoxia up-regulated 1 | Altijd | In 1 aandoening |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Altijd | In 1 aandoening |
| IFT140intraflagellar transport 140 | Altijd | In 1 aandoening |
| IGF1insulin like growth factor 1 | Altijd | In 2 aandoeningen |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Altijd | In 1 aandoening |
| INTUinturned planar cell polarity protein | Altijd | In 1 aandoening |
| JKAMPJNK1/MAPK8 associated membrane protein | Altijd | In 1 aandoening |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Altijd | In 2 aandoeningen |
| KCNK3potassium two pore domain channel subfamily K member 3 | Altijd | In 1 aandoening |
| KCNK4potassium two pore domain channel subfamily K member 4 | Altijd | In 1 aandoening |
| KDM6Blysine demethylase 6B | Altijd | In 1 aandoening |
| LGI4leucine rich repeat LGI family member 4 | Altijd | In 1 aandoening |
| LMNAlamin A/C | Altijd | In 6 aandoeningen |
| MAD1L1mitotic arrest deficient 1 like 1 | Altijd | In 1 aandoening |
| MAFBMAF bZIP transcription factor B | Altijd | In 3 aandoeningen |
| MARS1methionyl-tRNA synthetase 1 | Altijd | In 1 aandoening |
| MAU2MAU2 sister chromatid cohesion factor | Altijd | In 2 aandoeningen |
| MCM5minichromosome maintenance complex component 5 | Altijd | In 1 aandoening |
| MED12mediator complex subunit 12 | Altijd | In 5 aandoeningen |
| MED16mediator complex subunit 16 | Altijd | In 1 aandoening |
| MSL2MSL complex subunit 2 | Altijd | In 1 aandoening |
| MYH3myosin heavy chain 3 | Altijd | In 3 aandoeningen |
| MYMKmyomaker, myoblast fusion factor | Altijd | In 2 aandoeningen |
| MYMXmyomixer, myoblast fusion factor | Altijd | In 2 aandoeningen |
| NALCNsodium leak channel, non-selective | Altijd | In 4 aandoeningen |
| NBNnibrin | Altijd | In 1 aandoening |
| NECTIN1nectin cell adhesion molecule 1 | Altijd | In 2 aandoeningen |
| NFASCneurofascin | Altijd | In 1 aandoening |
| NOTCH3notch receptor 3 | Altijd | In 3 aandoeningen |
| NR6A1nuclear receptor subfamily 6 group A member 1 | Altijd | In 1 aandoening |
| NSD2nuclear receptor binding SET domain protein 2 | Altijd | In 3 aandoeningen |
| NUP107nucleoporin 107 | Altijd | In 3 aandoeningen |
| NUP88nucleoporin 88 | Altijd | In 2 aandoeningen |
| NXNnucleoredoxin | Altijd | In 2 aandoeningen |
| ORC4origin recognition complex subunit 4 | Altijd | In 2 aandoeningen |
| ORC6origin recognition complex subunit 6 | Altijd | In 2 aandoeningen |
| PAK2p21 (RAC1) activated kinase 2 | Altijd | In 1 aandoening |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Altijd | In 1 aandoening |
| PEX1peroxisomal biogenesis factor 1 | Altijd | In 2 aandoeningen |
| PEX14peroxisomal biogenesis factor 14 | Altijd | In 2 aandoeningen |
| PI4KAphosphatidylinositol 4-kinase alpha | Altijd | In 3 aandoeningen |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Altijd | In 3 aandoeningen |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Altijd | In 1 aandoening |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Altijd | In 1 aandoening |
| PLCB4phospholipase C beta 4 | Altijd | In 3 aandoeningen |
| PLVAPplasmalemma vesicle associated protein | Altijd | In 1 aandoening |
| POLD1DNA polymerase delta 1, catalytic subunit | Altijd | In 1 aandoening |
| POLR1CRNA polymerase I and III subunit C | Altijd | In 2 aandoeningen |
| POLR3ARNA polymerase III subunit A | Altijd | In 1 aandoening |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Altijd | In 1 aandoening |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Altijd | In 2 aandoeningen |
| PSAT1phosphoserine aminotransferase 1 | Altijd | In 2 aandoeningen |
| PSMC1proteasome 26S subunit, ATPase 1 | Altijd | In 1 aandoening |
| PTH1Rparathyroid hormone 1 receptor | Altijd | In 4 aandoeningen |
| RAC3Rac family small GTPase 3 | Altijd | In 1 aandoening |
| RAPSNreceptor associated protein of the synapse | Altijd | In 2 aandoeningen |
| RBBP8RB binding protein 8, endonuclease | Altijd | In 2 aandoeningen |
| RBM10RNA binding motif protein 10 | Altijd | In 2 aandoeningen |
| RECQL4RecQ like helicase 4 | Altijd | In 3 aandoeningen |
| RIN2Ras and Rab interactor 2 | Altijd | In 1 aandoening |
| RIPK4receptor interacting serine/threonine kinase 4 | Altijd | In 2 aandoeningen |
| RNU5B-1RNA, U5B small nuclear 1 | Altijd | In 1 aandoening |
| ROBO1roundabout guidance receptor 1 | Altijd | In 1 aandoening |
| RPS28ribosomal protein S28 | Altijd | In 2 aandoeningen |
| RYR3ryanodine receptor 3 | Altijd | In 1 aandoening |
| SATB2SATB homeobox 2 | Altijd | In 4 aandoeningen |
| SC5Dsterol-C5-desaturase | Altijd | In 2 aandoeningen |
| SCARF2scavenger receptor class F member 2 | Altijd | In 2 aandoeningen |
| SCYL2SCY1 like pseudokinase 2 | Altijd | In 2 aandoeningen |
| SEC31ASEC31 homolog A, COPII component | Altijd | In 1 aandoening |
| SERPINH1serpin family H member 1 | Altijd | In 1 aandoening |
| SETD2SET domain containing 2, histone lysine methyltransferase | Altijd | In 1 aandoening |
| SLC37A4solute carrier family 37 member 4 | Altijd | In 1 aandoening |
| SOX9SRY-box transcription factor 9 | Altijd | In 3 aandoeningen |
| SP7Sp7 transcription factor | Altijd | In 1 aandoening |
| SPOUT1SPOUT domain containing methyltransferase 1 | Altijd | In 1 aandoening |
| SPRTNSprT-like N-terminal domain | Altijd | In 1 aandoening |
| STAC3SH3 and cysteine rich domain 3 | Altijd | In 2 aandoeningen |
| TBCEtubulin folding cofactor E | Altijd | In 2 aandoeningen |
| TBX5T-box transcription factor 5 | Altijd | In 1 aandoening |
| TCOF1treacle ribosome biogenesis factor 1 | Altijd | In 2 aandoeningen |
| TCP1t-complex 1 | Altijd | In 1 aandoening |
| TGDSTDP-glucose 4,6-dehydratase | Altijd | In 2 aandoeningen |
| THOC2THO complex subunit 2 | Altijd | In 1 aandoening |
| TM2D3TM2 domain containing 3 | Altijd | In 1 aandoening |
| TOMM7translocase of outer mitochondrial membrane 7 | Altijd | In 1 aandoening |
| TOP2BDNA topoisomerase II beta | Altijd | In 1 aandoening |
| TOR1Atorsin family 1 member A | Altijd | In 1 aandoening |
| TRAIPTRAF interacting protein | Altijd | In 2 aandoeningen |
| TSR2TSR2 ribosome maturation factor | Altijd | In 2 aandoeningen |
| UBE3Bubiquitin protein ligase E3B | Altijd | In 2 aandoeningen |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Altijd | In 1 aandoening |
| VPS13Bvacuolar protein sorting 13 homolog B | Altijd | In 2 aandoeningen |
| VPS35LVPS35 endosomal protein sorting factor like | Altijd | In 2 aandoeningen |
| VPS53VPS53 subunit of GARP complex | Altijd | In 1 aandoening |
| ZMPSTE24zinc metallopeptidase STE24 | Altijd | In 5 aandoeningen |
| ACTBactin beta | Heel vaak (80–99%) | In 1 aandoening |
| ACTG1actin gamma 1 | Heel vaak (80–99%) | In 1 aandoening |
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| ALX4ALX homeobox 4 | Heel vaak (80–99%) | In 1 aandoening |
| ANK1ankyrin 1 | Heel vaak (80–99%) | In 1 aandoening |
| ATRATR checkpoint kinase | Heel vaak (80–99%) | In 2 aandoeningen |
| ATRIPATR interacting protein | Heel vaak (80–99%) | In 1 aandoening |
| B3GLCTbeta 3-glucosyltransferase | Heel vaak (80–99%) | In 2 aandoeningen |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Heel vaak (80–99%) | In 1 aandoening |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Heel vaak (80–99%) | In 3 aandoeningen |
| BRD4bromodomain containing 4 | Heel vaak (80–99%) | In 1 aandoening |
| BRPF1bromodomain and PHD finger containing 1 | Heel vaak (80–99%) | In 1 aandoening |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Heel vaak (80–99%) | In 1 aandoening |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Heel vaak (80–99%) | In 2 aandoeningen |
| BUB3BUB3 mitotic checkpoint protein | Heel vaak (80–99%) | In 1 aandoening |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Heel vaak (80–99%) | In 1 aandoening |
| CBLCbl proto-oncogene | Heel vaak (80–99%) | In 1 aandoening |
| CD96CD96 molecule | Heel vaak (80–99%) | In 2 aandoeningen |
| CDC45cell division cycle 45 | Heel vaak (80–99%) | In 1 aandoening |
| CDCA7cell division cycle associated 7 | Heel vaak (80–99%) | In 1 aandoening |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Heel vaak (80–99%) | In 1 aandoening |
| CDT1chromatin licensing and DNA replication factor 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| CENPEcentromere protein E | Heel vaak (80–99%) | In 2 aandoeningen |
| CEP295centrosomal protein 295 | Heel vaak (80–99%) | In 2 aandoeningen |
| CEP63centrosomal protein 63 | Heel vaak (80–99%) | In 1 aandoening |
| CLIP2CAP-Gly domain containing linker protein 2 | Heel vaak (80–99%) | In 1 aandoening |
| COG4component of oligomeric golgi complex 4 | Heel vaak (80–99%) | In 1 aandoening |
| COL11A1collagen type XI alpha 1 chain | Heel vaak (80–99%) | In 3 aandoeningen |
| CPAPcentrosome assembly and centriole elongation protein | Heel vaak (80–99%) | In 1 aandoening |
| CPLX1complexin 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| CREBBPCREB binding lysine acetyltransferase | Heel vaak (80–99%) | In 3 aandoeningen |
| CRTAPcartilage associated protein | Heel vaak (80–99%) | In 1 aandoening |
| CTBP1C-terminal binding protein 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| CTDP1CTD phosphatase 1 | Heel vaak (80–99%) | In 1 aandoening |
| CWC27CWC27 spliceosome associated cyclophilin | Heel vaak (80–99%) | In 2 aandoeningen |
| DDX3XDEAD-box helicase 3 X-linked | Heel vaak (80–99%) | In 1 aandoening |
| DHCR2424-dehydrocholesterol reductase | Heel vaak (80–99%) | In 2 aandoeningen |
| DHCR77-dehydrocholesterol reductase | Heel vaak (80–99%) | In 2 aandoeningen |
| DHODHdihydroorotate dehydrogenase (quinone) | Heel vaak (80–99%) | In 2 aandoeningen |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Heel vaak (80–99%) | In 1 aandoening |
| DNMT3BDNA methyltransferase 3 beta | Heel vaak (80–99%) | In 2 aandoeningen |
| DOK7docking protein 7 | Heel vaak (80–99%) | In 2 aandoeningen |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Heel vaak (80–99%) | In 1 aandoening |
| EFTUD2elongation factor Tu GTP binding domain containing 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| EIF4Heukaryotic translation initiation factor 4H | Heel vaak (80–99%) | In 1 aandoening |
| ELNelastin | Heel vaak (80–99%) | In 1 aandoening |
| EMG1EMG1 N1-specific pseudouridine methyltransferase | Heel vaak (80–99%) | In 2 aandoeningen |
| EP300EP300 lysine acetyltransferase | Heel vaak (80–99%) | In 4 aandoeningen |
| ERCC5ERCC excision repair 5, endonuclease | Heel vaak (80–99%) | In 2 aandoeningen |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Heel vaak (80–99%) | In 2 aandoeningen |
| ERMARDER membrane associated RNA degradation | Heel vaak (80–99%) | In 1 aandoening |
| EXT2exostosin glycosyltransferase 2 | Heel vaak (80–99%) | In 1 aandoening |
| EXTL3exostosin like glycosyltransferase 3 | Heel vaak (80–99%) | In 2 aandoeningen |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Heel vaak (80–99%) | In 1 aandoening |
| FAM20CFAM20C golgi associated secretory pathway kinase | Heel vaak (80–99%) | In 2 aandoeningen |
| FBN1fibrillin 1 | Heel vaak (80–99%) | In 3 aandoeningen |
| FGFR2fibroblast growth factor receptor 2 | Heel vaak (80–99%) | In 3 aandoeningen |
| FIG4FIG4 phosphoinositide 5-phosphatase | Heel vaak (80–99%) | In 2 aandoeningen |
| FILIP1filamin A interacting protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Heel vaak (80–99%) | In 1 aandoening |
| GHRgrowth hormone receptor | Heel vaak (80–99%) | In 1 aandoening |
| GLDNgliomedin | Heel vaak (80–99%) | In 1 aandoening |
| GLE1GLE1 RNA export mediator | Heel vaak (80–99%) | In 3 aandoeningen |
| GMNNgeminin DNA replication inhibitor | Heel vaak (80–99%) | In 1 aandoening |
| GRB10growth factor receptor bound protein 10 | Heel vaak (80–99%) | In 1 aandoening |
| GTF2Igeneral transcription factor IIi | Heel vaak (80–99%) | In 1 aandoening |
| GTF2IRD1GTF2I repeat domain containing 1 | Heel vaak (80–99%) | In 1 aandoening |
| GTF2IRD2GTF2I repeat domain containing 2 | Heel vaak (80–99%) | In 1 aandoening |
| HDAC8histone deacetylase 8 | Heel vaak (80–99%) | In 3 aandoeningen |
| HELLShelicase, lymphoid specific | Heel vaak (80–99%) | In 1 aandoening |
| HMGA2high mobility group AT-hook 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| HYMAIhydatidiform mole associated and imprinted | Heel vaak (80–99%) | In 1 aandoening |
| IGF2insulin like growth factor 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| IRF6interferon regulatory factor 6 | Heel vaak (80–99%) | In 1 aandoening |
| KAT6Blysine acetyltransferase 6B | Heel vaak (80–99%) | In 4 aandoeningen |
| KCNJ6potassium inwardly rectifying channel subfamily J member 6 | Heel vaak (80–99%) | In 2 aandoeningen |
| KIF21Akinesin family member 21A | Heel vaak (80–99%) | In 1 aandoening |
| KIF7kinesin family member 7 | Heel vaak (80–99%) | In 3 aandoeningen |
| KRASKRas proto-oncogene, GTPase | Heel vaak (80–99%) | In 2 aandoeningen |
| LAS1LLAS1 like ribosome biogenesis factor | Heel vaak (80–99%) | In 1 aandoening |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Heel vaak (80–99%) | In 3 aandoeningen |
| LIFRLIF receptor subunit alpha | Heel vaak (80–99%) | In 1 aandoening |
| LIMK1LIM domain kinase 1 | Heel vaak (80–99%) | In 1 aandoening |
| LZTR1leucine zipper like post translational regulator 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| MAGEL2MAGE family member L2 | Heel vaak (80–99%) | In 1 aandoening |
| MAN2C1mannosidase alpha class 2C member 1 | Heel vaak (80–99%) | In 1 aandoening |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Heel vaak (80–99%) | In 1 aandoening |
| METTL27methyltransferase like 27 | Heel vaak (80–99%) | In 1 aandoening |
| MRASmuscle RAS oncogene homolog | Heel vaak (80–99%) | In 1 aandoening |
| MUSKmuscle associated receptor tyrosine kinase | Heel vaak (80–99%) | In 2 aandoeningen |
| MYOD1myogenic differentiation 1 | Heel vaak (80–99%) | In 1 aandoening |
| NCF1neutrophil cytosolic factor 1 | Heel vaak (80–99%) | In 1 aandoening |
| NELFAnegative elongation factor complex member A | Heel vaak (80–99%) | In 1 aandoening |
| NINninein | Heel vaak (80–99%) | In 1 aandoening |
| NIPBLNIPBL cohesin loading factor | Heel vaak (80–99%) | In 2 aandoeningen |
| NOTCH2notch receptor 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| NRASNRAS proto-oncogene, GTPase | Heel vaak (80–99%) | In 1 aandoening |
| NSD1nuclear receptor binding SET domain protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| NSMCE2NSE2 SUMO ligase component of SMC5/6 complex | Heel vaak (80–99%) | In 2 aandoeningen |
| NUP85nucleoporin 85 | Heel vaak (80–99%) | In 1 aandoening |
| ORC1origin recognition complex subunit 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| P4HBprolyl 4-hydroxylase subunit beta | Heel vaak (80–99%) | In 2 aandoeningen |
| PCNTpericentrin | Heel vaak (80–99%) | In 1 aandoening |
| PHF21APHD finger protein 21A | Heel vaak (80–99%) | In 1 aandoening |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Heel vaak (80–99%) | In 1 aandoening |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Heel vaak (80–99%) | In 2 aandoeningen |
| PLAG1PLAG1 zinc finger | Heel vaak (80–99%) | In 1 aandoening |
| PLAGL1PLAG1 like zinc finger 1 | Heel vaak (80–99%) | In 1 aandoening |
| PLK4polo like kinase 4 | Heel vaak (80–99%) | In 2 aandoeningen |
| POLR1BRNA polymerase I subunit B | Heel vaak (80–99%) | In 2 aandoeningen |
| POLR1DRNA polymerase I and III subunit D | Heel vaak (80–99%) | In 2 aandoeningen |
| PQBP1polyglutamine binding protein 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Heel vaak (80–99%) | In 2 aandoeningen |
| PUS1pseudouridine synthase 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| RAD21RAD21 cohesin complex component | Heel vaak (80–99%) | In 1 aandoening |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Heel vaak (80–99%) | In 1 aandoening |
| RASA2RAS p21 protein activator 2 | Heel vaak (80–99%) | In 1 aandoening |
| RFC2replication factor C subunit 2 | 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 |
| RRASRAS related | Heel vaak (80–99%) | In 1 aandoening |
| RRAS2RAS related 2 | Heel vaak (80–99%) | In 1 aandoening |
| RUNX2RUNX family transcription factor 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| SEC24DSEC24 homolog D, COPII component | Heel vaak (80–99%) | In 1 aandoening |
| SETD5SET domain containing 5 | Heel vaak (80–99%) | In 2 aandoeningen |
| SF3B2splicing factor 3b subunit 2 | Heel vaak (80–99%) | In 1 aandoening |
| SF3B4splicing factor 3b subunit 4 | Heel vaak (80–99%) | In 2 aandoeningen |
| SH3PXD2BSH3 and PX domains 2B | Heel vaak (80–99%) | In 1 aandoening |
| SHOXSHOX homeobox | Heel vaak (80–99%) | In 2 aandoeningen |
| SKISKI proto-oncogene | Heel vaak (80–99%) | In 2 aandoeningen |
| SLC10A7solute carrier family 10 member 7 | Heel vaak (80–99%) | In 1 aandoening |
| SLC18A3solute carrier family 18 member A3 | Heel vaak (80–99%) | In 1 aandoening |
| SLC25A19solute carrier family 25 member 19 | Heel vaak (80–99%) | In 2 aandoeningen |
| SLC26A2solute carrier family 26 member 2 | Heel vaak (80–99%) | In 5 aandoeningen |
| SMC1Astructural maintenance of chromosomes 1A | Heel vaak (80–99%) | In 2 aandoeningen |
| SMC3structural maintenance of chromosomes 3 | Heel vaak (80–99%) | In 2 aandoeningen |
| SNAPINSNAP associated protein | Heel vaak (80–99%) | In 1 aandoening |
| SNRPBsmall nuclear ribonucleoprotein polypeptides B and B1 | Heel vaak (80–99%) | In 2 aandoeningen |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Heel vaak (80–99%) | In 1 aandoening |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Heel vaak (80–99%) | In 1 aandoening |
| SPRED2sprouty related EVH1 domain containing 2 | Heel vaak (80–99%) | In 1 aandoening |
| STX1Asyntaxin 1A | Heel vaak (80–99%) | In 1 aandoening |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Heel vaak (80–99%) | In 1 aandoening |
| TBL2transducin beta like 2 | Heel vaak (80–99%) | In 1 aandoening |
| TCTN3tectonic family member 3 | Heel vaak (80–99%) | In 4 aandoeningen |
| TGFBR1transforming growth factor beta receptor 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| TMEM270transmembrane protein 270 | Heel vaak (80–99%) | In 1 aandoening |
| TRIP11thyroid hormone receptor interactor 11 | Heel vaak (80–99%) | In 1 aandoening |
| TRIP13thyroid hormone receptor interactor 13 | Heel vaak (80–99%) | In 1 aandoening |
| TRPS1transcriptional repressor GATA binding 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| TUBA1Atubulin alpha 1a | Heel vaak (80–99%) | In 1 aandoening |
| UHRF1ubiquitin like with PHD and ring finger domains 1 | Heel vaak (80–99%) | In 1 aandoening |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Heel vaak (80–99%) | In 1 aandoening |
| VPS37DVPS37D subunit of ESCRT-I | Heel vaak (80–99%) | In 1 aandoening |
| XRCC4X-ray repair cross complementing 4 | Heel vaak (80–99%) | In 1 aandoening |
| YARS2tyrosyl-tRNA synthetase 2 | Heel vaak (80–99%) | In 1 aandoening |
| ZBTB18zinc finger and BTB domain containing 18 | Heel vaak (80–99%) | In 2 aandoeningen |
| ZBTB24zinc finger and BTB domain containing 24 | Heel vaak (80–99%) | In 1 aandoening |
| ZDHHC9zDHHC palmitoyltransferase 9 | Heel vaak (80–99%) | In 1 aandoening |
| ABCD4ATP binding cassette subfamily D member 4 | Vaak (30–79%) | In 1 aandoening |
| ADAMTSL2ADAMTS like 2 | Vaak (30–79%) | In 1 aandoening |
| ADGRG6adhesion G protein-coupled receptor G6 | Vaak (30–79%) | In 1 aandoening |
| AEBP1AE binding protein 1 | Vaak (30–79%) | In 2 aandoeningen |
| AFF3ALF transcription elongation factor 3 | 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 |
| ANAPC7anaphase promoting complex subunit 7 | Vaak (30–79%) | In 1 aandoening |
| ANKLE2ankyrin repeat and LEM domain containing 2 | Vaak (30–79%) | In 1 aandoening |
| ANKRD11ankyrin repeat domain 11 | Vaak (30–79%) | In 1 aandoening |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Vaak (30–79%) | In 1 aandoening |
| ATP7AATPase copper transporting alpha | Vaak (30–79%) | In 1 aandoening |
| AUTS2activator of transcription and developmental regulator AUTS2 | Vaak (30–79%) | In 2 aandoeningen |
| B9D1B9 domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| B9D2B9 domain containing 2 | Vaak (30–79%) | In 1 aandoening |
| BDNFbrain derived neurotrophic factor | Vaak (30–79%) | In 1 aandoening |
| BICD2BICD cargo adaptor 2 | Vaak (30–79%) | In 1 aandoening |
| BLMBLM RecQ like helicase | Vaak (30–79%) | In 1 aandoening |
| BPTFbromodomain PHD finger transcription factor | Vaak (30–79%) | In 2 aandoeningen |
| CAMTA1calmodulin binding transcription activator 1 | Vaak (30–79%) | In 1 aandoening |
| CASKcalcium/calmodulin dependent serine protein kinase | Vaak (30–79%) | In 2 aandoeningen |
| CC2D2Acoiled-coil and C2 domain containing 2A | Vaak (30–79%) | In 1 aandoening |
| CCDC32coiled-coil domain containing 32 | Vaak (30–79%) | In 1 aandoening |
| CEP290centrosomal protein 290 | Vaak (30–79%) | In 1 aandoening |
| CHD6chromodomain helicase DNA binding protein 6 | Vaak (30–79%) | In 1 aandoening |
| CHRNGcholinergic receptor nicotinic gamma subunit | Vaak (30–79%) | In 3 aandoeningen |
| COL11A2collagen type XI alpha 2 chain | Vaak (30–79%) | In 4 aandoeningen |
| COL12A1collagen type XII alpha 1 chain | Vaak (30–79%) | In 2 aandoeningen |
| COL1A1collagen type I alpha 1 chain | Vaak (30–79%) | In 2 aandoeningen |
| COL1A2collagen type I alpha 2 chain | Vaak (30–79%) | In 2 aandoeningen |
| COL2A1collagen type II alpha 1 chain | Vaak (30–79%) | In 5 aandoeningen |
| COL3A1collagen type III alpha 1 chain | Vaak (30–79%) | In 2 aandoeningen |
| COL6A1collagen type VI alpha 1 chain | Vaak (30–79%) | In 1 aandoening |
| COL6A3collagen type VI alpha 3 chain | Vaak (30–79%) | In 1 aandoening |
| COL9A1collagen type IX alpha 1 chain | Vaak (30–79%) | In 1 aandoening |
| COL9A2collagen type IX alpha 2 chain | Vaak (30–79%) | In 1 aandoening |
| COL9A3collagen type IX alpha 3 chain | Vaak (30–79%) | In 1 aandoening |
| COX7Bcytochrome c oxidase subunit 7B | Vaak (30–79%) | In 1 aandoening |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Vaak (30–79%) | In 2 aandoeningen |
| CSPP1centrosome and spindle pole associated protein 1 | Vaak (30–79%) | In 2 aandoeningen |
| CTSKcathepsin K | Vaak (30–79%) | In 2 aandoeningen |
| D2HGDHD-2-hydroxyglutarate dehydrogenase | Vaak (30–79%) | In 1 aandoening |
| DICER1dicer 1, ribonuclease III | Vaak (30–79%) | In 1 aandoening |
| DONSONDNA replication fork stabilization factor DONSON | Vaak (30–79%) | In 2 aandoeningen |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Vaak (30–79%) | In 2 aandoeningen |
| DSTYKdual serine/threonine and tyrosine protein kinase | Vaak (30–79%) | In 1 aandoening |
| DVL1dishevelled segment polarity protein 1 | Vaak (30–79%) | In 3 aandoeningen |
| DVL3dishevelled segment polarity protein 3 | Vaak (30–79%) | In 2 aandoeningen |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Vaak (30–79%) | In 1 aandoening |
| DYNC2I1dynein 2 intermediate chain 1 | Vaak (30–79%) | In 1 aandoening |
| DYNC2I2dynein 2 intermediate chain 2 | Vaak (30–79%) | In 1 aandoening |
| EDN1endothelin 1 | Vaak (30–79%) | In 2 aandoeningen |
| EIF5Aeukaryotic translation initiation factor 5A | Vaak (30–79%) | In 1 aandoening |
| EMILIN1elastin microfibril interfacer 1 | Vaak (30–79%) | In 1 aandoening |
| EPG5ectopic P-granules 5 autophagy tethering factor | Vaak (30–79%) | In 1 aandoening |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Vaak (30–79%) | In 2 aandoeningen |
| FAAP100FA core complex associated protein 100 | Vaak (30–79%) | In 2 aandoeningen |
| FAM149B1family with sequence similarity 149 member B1 | Vaak (30–79%) | In 1 aandoening |
| FANCLFA complementation group L | Vaak (30–79%) | In 2 aandoeningen |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Vaak (30–79%) | In 1 aandoening |
| FAT4FAT atypical cadherin 4 | Vaak (30–79%) | In 2 aandoeningen |
| FBXO22F-box protein 22 | Vaak (30–79%) | In 1 aandoening |
| FDFT1farnesyl-diphosphate farnesyltransferase 1 | Vaak (30–79%) | In 1 aandoening |
| FGF3fibroblast growth factor 3 | Vaak (30–79%) | In 2 aandoeningen |
| FGFR1fibroblast growth factor receptor 1 | Vaak (30–79%) | In 1 aandoening |
| FGFRL1fibroblast growth factor receptor like 1 | Vaak (30–79%) | In 1 aandoening |
| FKRPfukutin related protein | Vaak (30–79%) | In 1 aandoening |
| FKTNfukutin | Vaak (30–79%) | In 1 aandoening |
| FOXC2forkhead box C2 | Vaak (30–79%) | In 1 aandoening |
| FOXI3forkhead box I3 | Vaak (30–79%) | In 1 aandoening |
| FZD2frizzled class receptor 2 | Vaak (30–79%) | In 3 aandoeningen |
| GABRA3gamma-aminobutyric acid type A receptor subunit alpha3 | Vaak (30–79%) | In 1 aandoening |
| GATA4GATA binding protein 4 | Vaak (30–79%) | In 1 aandoening |
| GEMIN4gem nuclear organelle associated protein 4 | Vaak (30–79%) | In 1 aandoening |
| GINS3GINS complex subunit 3 | Vaak (30–79%) | In 1 aandoening |
| GNAI3G protein subunit alpha i3 | Vaak (30–79%) | In 2 aandoeningen |
| GNB2G protein subunit beta 2 | Vaak (30–79%) | In 1 aandoening |
| GPC6glypican 6 | Vaak (30–79%) | In 2 aandoeningen |
| H4C9H4 clustered histone 9 | Vaak (30–79%) | In 1 aandoening |
| HBA1hemoglobin subunit alpha 1 | Vaak (30–79%) | In 1 aandoening |
| HBA2hemoglobin subunit alpha 2 | Vaak (30–79%) | In 1 aandoening |
| HCCSholocytochrome c synthase | Vaak (30–79%) | In 1 aandoening |
| HDAC9histone deacetylase 9 | Vaak (30–79%) | In 1 aandoening |
| HNRNPRheterogeneous nuclear ribonucleoprotein R | Vaak (30–79%) | In 1 aandoening |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Vaak (30–79%) | In 1 aandoening |
| HOXB1homeobox B1 | Vaak (30–79%) | In 1 aandoening |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Vaak (30–79%) | In 1 aandoening |
| HYAL2hyaluronidase 2 | Vaak (30–79%) | In 1 aandoening |
| IFT43intraflagellar transport 43 | Vaak (30–79%) | In 2 aandoeningen |
| IFT80intraflagellar transport 80 | Vaak (30–79%) | In 1 aandoening |
| IPO8importin 8 | Vaak (30–79%) | In 2 aandoeningen |
| IRX5iroquois homeobox 5 | Vaak (30–79%) | In 1 aandoening |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Vaak (30–79%) | In 1 aandoening |
| KCNK9potassium two pore domain channel subfamily K member 9 | Vaak (30–79%) | In 1 aandoening |
| KDM6Alysine demethylase 6A | Vaak (30–79%) | In 2 aandoeningen |
| KIAA0753KIAA0753 | Vaak (30–79%) | In 1 aandoening |
| KIDINS220kinase D interacting substrate 220 | Vaak (30–79%) | In 1 aandoening |
| KIF14kinesin family member 14 | Vaak (30–79%) | In 1 aandoening |
| KLHL20kelch like family member 20 | Vaak (30–79%) | In 1 aandoening |
| KMT2Alysine methyltransferase 2A | Vaak (30–79%) | In 1 aandoening |
| KMT2Dlysine methyltransferase 2D | Vaak (30–79%) | In 2 aandoeningen |
| LAGE3L antigen family member 3 | Vaak (30–79%) | In 2 aandoeningen |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Vaak (30–79%) | In 1 aandoening |
| LBRlamin B receptor | Vaak (30–79%) | In 2 aandoeningen |
| LEMD2LEM domain nuclear envelope protein 2 | Vaak (30–79%) | In 1 aandoening |
| LIG4DNA ligase 4 | Vaak (30–79%) | In 1 aandoening |
| LOXL3lysyl oxidase like 3 | Vaak (30–79%) | In 1 aandoening |
| LRP4LDL receptor related protein 4 | Vaak (30–79%) | In 1 aandoening |
| LRRC32leucine rich repeat containing 32 | Vaak (30–79%) | In 1 aandoening |
| LTBP4latent transforming growth factor beta binding protein 4 | Vaak (30–79%) | In 1 aandoening |
| MCTP2multiple C2 and transmembrane domain containing 2 | Vaak (30–79%) | In 1 aandoening |
| MITFmelanocyte inducing transcription factor | Vaak (30–79%) | In 1 aandoening |
| MKS1MKS transition zone complex subunit 1 | Vaak (30–79%) | In 2 aandoeningen |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Vaak (30–79%) | In 2 aandoeningen |
| MTX2metaxin 2 | Vaak (30–79%) | In 1 aandoening |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Vaak (30–79%) | In 2 aandoeningen |
| MYO18Bmyosin XVIIIB | Vaak (30–79%) | In 1 aandoening |
| NCAPG2non-SMC condensin II complex subunit G2 | Vaak (30–79%) | In 1 aandoening |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Vaak (30–79%) | In 1 aandoening |
| NEK1NIMA related kinase 1 | Vaak (30–79%) | In 2 aandoeningen |
| NEK9NIMA related kinase 9 | Vaak (30–79%) | In 1 aandoening |
| NFIXnuclear factor I X | Vaak (30–79%) | In 1 aandoening |
| NRCAMneuronal cell adhesion molecule | Vaak (30–79%) | In 1 aandoening |
| OFD1OFD1 centriole and centriolar satellite protein | Vaak (30–79%) | In 2 aandoeningen |
| PAX6paired box 6 | Vaak (30–79%) | In 1 aandoening |
| PDE6Dphosphodiesterase 6D | Vaak (30–79%) | In 1 aandoening |
| PEPDpeptidase D | Vaak (30–79%) | In 2 aandoeningen |
| PEX10peroxisomal biogenesis factor 10 | Vaak (30–79%) | In 1 aandoening |
| PEX11Bperoxisomal biogenesis factor 11 beta | Vaak (30–79%) | In 1 aandoening |
| PEX12peroxisomal biogenesis factor 12 | Vaak (30–79%) | In 1 aandoening |
| PEX13peroxisomal biogenesis factor 13 | Vaak (30–79%) | In 1 aandoening |
| PEX16peroxisomal biogenesis factor 16 | Vaak (30–79%) | In 1 aandoening |
| PEX19peroxisomal biogenesis factor 19 | Vaak (30–79%) | In 1 aandoening |
| PEX2peroxisomal biogenesis factor 2 | Vaak (30–79%) | In 2 aandoeningen |
| PEX26peroxisomal biogenesis factor 26 | Vaak (30–79%) | In 1 aandoening |
| PEX3peroxisomal biogenesis factor 3 | Vaak (30–79%) | In 2 aandoeningen |
| PEX5peroxisomal biogenesis factor 5 | Vaak (30–79%) | In 2 aandoeningen |
| PEX6peroxisomal biogenesis factor 6 | Vaak (30–79%) | In 1 aandoening |
| PHGDHphosphoglycerate dehydrogenase | Vaak (30–79%) | In 1 aandoening |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Vaak (30–79%) | In 1 aandoening |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Vaak (30–79%) | In 1 aandoening |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Vaak (30–79%) | In 1 aandoening |
| PIGFphosphatidylinositol glycan anchor biosynthesis class F | Vaak (30–79%) | In 1 aandoening |
| PKDCCprotein kinase domain containing, cytoplasmic | Vaak (30–79%) | In 1 aandoening |
| PLAAphospholipase A2 activating protein | Vaak (30–79%) | In 2 aandoeningen |
| POLR1ARNA polymerase I subunit A | Vaak (30–79%) | In 1 aandoening |
| POMT1protein O-mannosyltransferase 1 | Vaak (30–79%) | In 1 aandoening |
| POMT2protein O-mannosyltransferase 2 | Vaak (30–79%) | In 1 aandoening |
| PSMD12proteasome 26S subunit, non-ATPase 12 | 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 |
| RAB18RAB18, member RAS oncogene family | Vaak (30–79%) | In 2 aandoeningen |
| RAB34RAB34, member RAS oncogene family | Vaak (30–79%) | In 1 aandoening |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Vaak (30–79%) | In 3 aandoeningen |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Vaak (30–79%) | In 3 aandoeningen |
| RAI1retinoic acid induced 1 | Vaak (30–79%) | In 3 aandoeningen |
| RB1RB transcriptional corepressor 1 | Vaak (30–79%) | In 1 aandoening |
| RDH11retinol dehydrogenase 11 | Vaak (30–79%) | In 1 aandoening |
| RFT1RFT1 glycolipid translocator homolog | Vaak (30–79%) | In 1 aandoening |
| RNU12RNA, U12 small nuclear | Vaak (30–79%) | In 1 aandoening |
| ROR2ROR family WNT receptor 2 | Vaak (30–79%) | In 2 aandoeningen |
| RPGRIP1RPGR interacting protein 1 | Vaak (30–79%) | In 1 aandoening |
| RPGRIP1LRPGRIP1 like | Vaak (30–79%) | In 1 aandoening |
| RPL17ribosomal protein L17 | Vaak (30–79%) | In 1 aandoening |
| RPL5ribosomal protein L5 | Vaak (30–79%) | In 2 aandoeningen |
| RSPO2R-spondin 2 | Vaak (30–79%) | In 2 aandoeningen |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Vaak (30–79%) | In 2 aandoeningen |
| SLC25A24solute carrier family 25 member 24 | Vaak (30–79%) | In 1 aandoening |
| SLC2A10solute carrier family 2 member 10 | Vaak (30–79%) | In 1 aandoening |
| SMAD2SMAD family member 2 | Vaak (30–79%) | In 2 aandoeningen |
| SMAD3SMAD family member 3 | Vaak (30–79%) | In 1 aandoening |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Vaak (30–79%) | In 1 aandoening |
| SPEGstriated muscle enriched protein kinase | Vaak (30–79%) | In 1 aandoening |
| STRA6signaling receptor and transporter of retinol STRA6 | Vaak (30–79%) | In 1 aandoening |
| TBC1D20TBC1 domain family member 20 | Vaak (30–79%) | In 1 aandoening |
| TBCBtubulin folding cofactor B | Vaak (30–79%) | In 1 aandoening |
| TBX4T-box transcription factor 4 | Vaak (30–79%) | In 2 aandoeningen |
| TCTN1tectonic family member 1 | Vaak (30–79%) | In 1 aandoening |
| TCTN2tectonic family member 2 | Vaak (30–79%) | In 1 aandoening |
| TGFB2transforming growth factor beta 2 | Vaak (30–79%) | In 1 aandoening |
| TGFB3transforming growth factor beta 3 | Vaak (30–79%) | In 1 aandoening |
| TGFBR2transforming growth factor beta receptor 2 | Vaak (30–79%) | In 2 aandoeningen |
| TMEM107transmembrane protein 107 | Vaak (30–79%) | In 2 aandoeningen |
| TMEM216transmembrane protein 216 | Vaak (30–79%) | In 2 aandoeningen |
| TMEM231transmembrane protein 231 | Vaak (30–79%) | In 2 aandoeningen |
| TMEM237transmembrane protein 237 | Vaak (30–79%) | In 1 aandoening |
| TMEM67transmembrane protein 67 | Vaak (30–79%) | In 1 aandoening |
| TNNI2troponin I2, fast skeletal type | Vaak (30–79%) | In 2 aandoeningen |
| TNNT3troponin T3, fast skeletal type | Vaak (30–79%) | In 1 aandoening |
| TOE1target of EGR1, exonuclease | Vaak (30–79%) | In 2 aandoeningen |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Vaak (30–79%) | In 1 aandoening |
| TPM2tropomyosin 2 | Vaak (30–79%) | In 4 aandoeningen |
| TRIOtrio Rho guanine nucleotide exchange factor | Vaak (30–79%) | In 2 aandoeningen |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Vaak (30–79%) | In 1 aandoening |
| TWIST1twist family bHLH transcription factor 1 | Vaak (30–79%) | In 1 aandoening |
| TXNDC15thioredoxin domain containing 15 | Vaak (30–79%) | In 2 aandoeningen |
| TXNL4Athioredoxin like 4A | Vaak (30–79%) | In 1 aandoening |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | 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 |
| WDR26WD repeat domain 26 | Vaak (30–79%) | In 2 aandoeningen |
| WDR35WD repeat domain 35 | Vaak (30–79%) | In 2 aandoeningen |
| WLSWnt ligand secretion mediator | Vaak (30–79%) | In 1 aandoening |
| WNT3Wnt family member 3 | Vaak (30–79%) | In 2 aandoeningen |
| WNT5AWnt family member 5A | Vaak (30–79%) | In 2 aandoeningen |
| WNT7AWnt family member 7A | Vaak (30–79%) | In 1 aandoening |
| WSB2WD repeat and SOCS box containing 2 | Vaak (30–79%) | In 1 aandoening |
| WT1WT1 transcription factor | Vaak (30–79%) | In 1 aandoening |
| ZNF292zinc finger protein 292 | Vaak (30–79%) | In 1 aandoening |
| ZNF668zinc finger protein 668 | Vaak (30–79%) | In 1 aandoening |
| ABCD1ATP binding cassette subfamily D member 1 | Soms (5–29%) | In 1 aandoening |
| ACTA1actin alpha 1, skeletal muscle | Soms (5–29%) | In 4 aandoeningen |
| ACTG2actin gamma 2, smooth muscle | Soms (5–29%) | In 1 aandoening |
| ADAT3adenosine deaminase tRNA specific 3 | Soms (5–29%) | In 1 aandoening |
| ADGRG1adhesion G protein-coupled receptor G1 | Soms (5–29%) | In 1 aandoening |
| AFF4ALF transcription elongation factor 4 | Soms (5–29%) | In 1 aandoening |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Soms (5–29%) | In 1 aandoening |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Soms (5–29%) | In 1 aandoening |
| ALPK3alpha kinase 3 | Soms (5–29%) | In 1 aandoening |
| AMER1APC membrane recruitment protein 1 | Soms (5–29%) | In 2 aandoeningen |
| APCAPC regulator of Wnt signaling pathway | Soms (5–29%) | In 1 aandoening |
| ARID1BAT-rich interaction domain 1B | Soms (5–29%) | In 1 aandoening |
| ARL6IP6ARF like GTPase 6 interacting protein 6 | Soms (5–29%) | In 1 aandoening |
| ARMC9armadillo repeat containing 9 | Soms (5–29%) | In 1 aandoening |
| ARVCFARVCF delta catenin family member | Soms (5–29%) | In 1 aandoening |
| ARXaristaless related homeobox | Soms (5–29%) | In 2 aandoeningen |
| ASXL1ASXL transcriptional regulator 1 | Soms (5–29%) | In 2 aandoeningen |
| ASXL3ASXL transcriptional regulator 3 | Soms (5–29%) | In 1 aandoening |
| ATAD3AATPase family AAA domain containing 3A | Soms (5–29%) | In 3 aandoeningen |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Soms (5–29%) | In 1 aandoening |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Soms (5–29%) | In 1 aandoening |
| B4GALT7beta-1,4-galactosyltransferase 7 | Soms (5–29%) | In 1 aandoening |
| BCAP31B cell receptor associated protein 31 | Soms (5–29%) | In 1 aandoening |
| BCL11ABCL11 transcription factor A | Soms (5–29%) | In 1 aandoening |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Soms (5–29%) | In 1 aandoening |
| BRAT1BRCA1 associated ATM activator 1 | Soms (5–29%) | In 1 aandoening |
| BRCA1BRCA1 DNA repair associated | Soms (5–29%) | In 1 aandoening |
| BRCA2BRCA2 DNA repair associated | Soms (5–29%) | In 1 aandoening |
| BRF1BRF1 general transcription factor IIIB subunit | Soms (5–29%) | In 1 aandoening |
| BRIP1BRCA1 interacting DNA helicase 1 | Soms (5–29%) | In 1 aandoening |
| CA2carbonic anhydrase 2 | Soms (5–29%) | In 1 aandoening |
| CAPRIN1cell cycle associated protein 1 | Soms (5–29%) | In 1 aandoening |
| CCDC22CCC complex scaffolding subunit CCDC22 | Soms (5–29%) | In 1 aandoening |
| CDC42BPBCDC42 binding protein kinase beta | Soms (5–29%) | In 1 aandoening |
| CFL2cofilin 2 | Soms (5–29%) | In 1 aandoening |
| CHD5chromodomain helicase DNA binding protein 5 | Soms (5–29%) | In 1 aandoening |
| CHD8chromodomain helicase DNA binding protein 8 | Soms (5–29%) | In 1 aandoening |
| CHN1chimerin 1 | Soms (5–29%) | In 1 aandoening |
| CHST3carbohydrate sulfotransferase 3 | Soms (5–29%) | In 1 aandoening |
| CHSY1chondroitin sulfate synthase 1 | Soms (5–29%) | In 1 aandoening |
| CLCF1cardiotrophin like cytokine factor 1 | Soms (5–29%) | In 1 aandoening |
| CLCN3Cl-/H+ antiporter 3 | Soms (5–29%) | In 1 aandoening |
| CLPBClpB family mitochondrial disaggregase | Soms (5–29%) | In 1 aandoening |
| CLTCL1clathrin heavy chain like 1 | Soms (5–29%) | In 1 aandoening |
| CNTNAP1contactin associated protein 1 | Soms (5–29%) | In 2 aandoeningen |
| COASYCoenzyme A synthase | Soms (5–29%) | In 1 aandoening |
| COL25A1collagen type XXV alpha 1 chain | Soms (5–29%) | In 1 aandoening |
| COL5A1collagen type V alpha 1 chain | Soms (5–29%) | In 1 aandoening |
| COMTcatechol-O-methyltransferase | Soms (5–29%) | In 1 aandoening |
| CRELD1CRELD disulfide isomerase 1 | Soms (5–29%) | In 1 aandoening |
| CRLF1cytokine receptor like factor 1 | Soms (5–29%) | In 2 aandoeningen |
| CSNK2A1casein kinase 2 alpha 1 | Soms (5–29%) | In 1 aandoening |
| CTNNB1catenin beta 1 | Soms (5–29%) | In 1 aandoening |
| DKC1dyskerin pseudouridine synthase 1 | Soms (5–29%) | In 1 aandoening |
| DLK1delta like non-canonical Notch ligand 1 | Soms (5–29%) | In 4 aandoeningen |
| DOT1LDOT1 like histone lysine methyltransferase | Soms (5–29%) | In 1 aandoening |
| DPH2diphthamide biosynthesis 2 | Soms (5–29%) | In 1 aandoening |
| DPH5diphthamide biosynthesis 5 | Soms (5–29%) | In 1 aandoening |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Soms (5–29%) | In 2 aandoeningen |
| DPYDdihydropyrimidine dehydrogenase | Soms (5–29%) | In 1 aandoening |
| DPYSL5dihydropyrimidinase like 5 | Soms (5–29%) | In 1 aandoening |
| EBF3EBF transcription factor 3 | Soms (5–29%) | In 1 aandoening |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Soms (5–29%) | In 1 aandoening |
| EMC1ER membrane protein complex subunit 1 | Soms (5–29%) | In 2 aandoeningen |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Soms (5–29%) | In 1 aandoening |
| ERGIC1endoplasmic reticulum-golgi intermediate compartment 1 | Soms (5–29%) | In 1 aandoening |
| EYA1EYA transcriptional coactivator and phosphatase 1 | Soms (5–29%) | In 1 aandoening |
| FANCAFA complementation group A | Soms (5–29%) | In 1 aandoening |
| FANCBFA complementation group B | Soms (5–29%) | In 2 aandoeningen |
| FANCCFA complementation group C | Soms (5–29%) | In 1 aandoening |
| FANCD2FA complementation group D2 | Soms (5–29%) | In 1 aandoening |
| FANCEFA complementation group E | Soms (5–29%) | In 1 aandoening |
| FANCFFA complementation group F | Soms (5–29%) | In 1 aandoening |
| FANCGFA complementation group G | Soms (5–29%) | In 1 aandoening |
| FANCIFA complementation group I | Soms (5–29%) | In 1 aandoening |
| FANCMFA complementation group M | Soms (5–29%) | In 1 aandoening |
| FBN2fibrillin 2 | 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 |
| FBXW11F-box and WD repeat domain containing 11 | Soms (5–29%) | In 1 aandoening |
| FOCADfocadhesin | Soms (5–29%) | In 1 aandoening |
| FOXF1forkhead box F1 | Soms (5–29%) | In 1 aandoening |
| GATAD2BGATA zinc finger domain containing 2B | Soms (5–29%) | In 1 aandoening |
| GDF11growth differentiation factor 11 | Soms (5–29%) | In 1 aandoening |
| GJA5gap junction protein alpha 5 | Soms (5–29%) | In 1 aandoening |
| GJA8gap junction protein alpha 8 | Soms (5–29%) | In 1 aandoening |
| GNA11G protein subunit alpha 11 | Soms (5–29%) | In 1 aandoening |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Soms (5–29%) | In 1 aandoening |
| GON7GON7 subunit of KEOPS complex | Soms (5–29%) | In 1 aandoening |
| GP1BBglycoprotein Ib platelet subunit beta | Soms (5–29%) | In 1 aandoening |
| GPKOWG-patch domain and KOW motifs | 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 |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Soms (5–29%) | In 1 aandoening |
| HDAC6histone deacetylase 6 | Soms (5–29%) | In 1 aandoening |
| HEATR3HEAT repeat containing 3 | Soms (5–29%) | In 2 aandoeningen |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Soms (5–29%) | In 1 aandoening |
| HIRAhistone cell cycle regulator | Soms (5–29%) | In 1 aandoening |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Soms (5–29%) | In 1 aandoening |
| IQSEC2IQ motif and Sec7 domain ArfGEF 2 | Soms (5–29%) | In 1 aandoening |
| ITGA7integrin subunit alpha 7 | Soms (5–29%) | In 1 aandoening |
| JMJD1Cjumonji domain containing 1C | Soms (5–29%) | In 1 aandoening |
| KBTBD13kelch repeat and BTB domain containing 13 | Soms (5–29%) | In 1 aandoening |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Soms (5–29%) | In 1 aandoening |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Soms (5–29%) | In 1 aandoening |
| KDM4Blysine demethylase 4B | Soms (5–29%) | In 1 aandoening |
| KDM5Alysine demethylase 5A | Soms (5–29%) | In 1 aandoening |
| KDM5Clysine demethylase 5C | Soms (5–29%) | In 1 aandoening |
| KIAA0586KIAA0586 | 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 4 aandoeningen |
| LEMD3LEM domain containing 3 | Soms (5–29%) | In 1 aandoening |
| LGI1leucine rich glioma inactivated 1 | Soms (5–29%) | In 1 aandoening |
| LMBRD2LMBR1 domain containing 2 | Soms (5–29%) | In 1 aandoening |
| LMOD3leiomodin 3 | Soms (5–29%) | In 2 aandoeningen |
| LRPPRCleucine rich pentatricopeptide repeat containing | Soms (5–29%) | In 1 aandoening |
| MAB21L1mab-21 like 1 | Soms (5–29%) | In 1 aandoening |
| MAD2L2mitotic arrest deficient 2 like 2 | Soms (5–29%) | In 1 aandoening |
| MADDMAP kinase activating death domain | Soms (5–29%) | In 1 aandoening |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Soms (5–29%) | In 1 aandoening |
| MAPK1mitogen-activated protein kinase 1 | Soms (5–29%) | In 1 aandoening |
| MAPRE2microtubule associated protein RP/EB family member 2 | Soms (5–29%) | In 2 aandoeningen |
| MEG3maternally expressed 3 | Soms (5–29%) | In 4 aandoeningen |
| MID1midline 1 | Soms (5–29%) | In 1 aandoening |
| MIPEPmitochondrial intermediate peptidase | Soms (5–29%) | In 1 aandoening |
| MYBPC1myosin binding protein C1 | Soms (5–29%) | In 1 aandoening |
| MYL2myosin light chain 2 | Soms (5–29%) | In 1 aandoening |
| MYPNmyopalladin | Soms (5–29%) | In 1 aandoening |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Soms (5–29%) | In 1 aandoening |
| NEBnebulin | Soms (5–29%) | In 3 aandoeningen |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Soms (5–29%) | In 1 aandoening |
| NF1neurofibromin 1 | Soms (5–29%) | In 1 aandoening |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Soms (5–29%) | In 2 aandoeningen |
| NUP133nucleoporin 133 | Soms (5–29%) | In 1 aandoening |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Soms (5–29%) | In 1 aandoening |
| OSGEPO-sialoglycoprotein endopeptidase | Soms (5–29%) | In 2 aandoeningen |
| PAHphenylalanine hydroxylase | Soms (5–29%) | In 1 aandoening |
| PALB2partner and localizer of BRCA2 | Soms (5–29%) | In 1 aandoening |
| PAX7paired box 7 | Soms (5–29%) | In 1 aandoening |
| PDE4Dphosphodiesterase 4D | Soms (5–29%) | In 1 aandoening |
| PDGFRBplatelet derived growth factor receptor beta | Soms (5–29%) | In 1 aandoening |
| PGAP2post-GPI attachment to proteins 2 | Soms (5–29%) | In 1 aandoening |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Soms (5–29%) | In 1 aandoening |
| PGM1phosphoglucomutase 1 | Soms (5–29%) | In 1 aandoening |
| PIEZO1piezo type mechanosensitive ion channel component 1 (Er blood group) | Soms (5–29%) | In 1 aandoening |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Soms (5–29%) | In 1 aandoening |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Soms (5–29%) | In 1 aandoening |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Soms (5–29%) | In 1 aandoening |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Soms (5–29%) | In 1 aandoening |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Soms (5–29%) | In 1 aandoening |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Soms (5–29%) | In 1 aandoening |
| PLXND1plexin D1 | Soms (5–29%) | In 1 aandoening |
| POGZpogo transposable element derived with ZNF domain | Soms (5–29%) | In 1 aandoening |
| POLEDNA polymerase epsilon, catalytic subunit | Soms (5–29%) | In 1 aandoening |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Soms (5–29%) | In 1 aandoening |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Soms (5–29%) | In 2 aandoeningen |
| PRIM1DNA primase subunit 1 | Soms (5–29%) | In 1 aandoening |
| PRUNE1prune exopolyphosphatase 1 | Soms (5–29%) | In 1 aandoening |
| PSPHphosphoserine phosphatase | Soms (5–29%) | In 1 aandoening |
| PTENphosphatase and tensin homolog | Soms (5–29%) | In 2 aandoeningen |
| PUF60poly(U) binding splicing factor 60 | Soms (5–29%) | In 1 aandoening |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Soms (5–29%) | In 1 aandoening |
| RAD51RAD51 recombinase | Soms (5–29%) | In 1 aandoening |
| RAD51CRAD51 paralog C | Soms (5–29%) | In 1 aandoening |
| RAP1BRAP1B, member of RAS oncogene family | Soms (5–29%) | In 1 aandoening |
| RBM8ARNA binding motif protein 8A | Soms (5–29%) | In 2 aandoeningen |
| RBMXRNA binding motif protein X-linked | Soms (5–29%) | In 1 aandoening |
| REREarginine-glutamic acid dipeptide repeats | Soms (5–29%) | In 2 aandoeningen |
| REV3LREV3 like, DNA directed polymerase zeta catalytic subunit | Soms (5–29%) | In 1 aandoening |
| RFWD3ring finger and WD repeat domain 3 | Soms (5–29%) | In 1 aandoening |
| RHOBTB2Rho related BTB domain containing 2 | Soms (5–29%) | In 1 aandoening |
| RNU4-2RNA, U4 small nuclear 2 | Soms (5–29%) | In 1 aandoening |
| RPS26ribosomal protein S26 | Soms (5–29%) | In 2 aandoeningen |
| RREB1ras responsive element binding protein 1 | Soms (5–29%) | In 1 aandoening |
| RTL1retrotransposon Gag like 1 | Soms (5–29%) | In 4 aandoeningen |
| SALL4spalt like transcription factor 4 | Soms (5–29%) | In 1 aandoening |
| SEC24CSEC24 homolog C, COPII component | Soms (5–29%) | In 1 aandoening |
| SELENONselenoprotein N | Soms (5–29%) | In 1 aandoening |
| SETBP1SET binding protein 1 | Soms (5–29%) | In 1 aandoening |
| SH2B1SH2B adaptor protein 1 | Soms (5–29%) | In 1 aandoening |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Soms (5–29%) | In 1 aandoening |
| SIM1SIM bHLH transcription factor 1 | Soms (5–29%) | In 1 aandoening |
| SIX1SIX homeobox 1 | Soms (5–29%) | In 1 aandoening |
| SLC6A1solute carrier family 6 member 1 | Soms (5–29%) | In 1 aandoening |
| SLC6A11solute carrier family 6 member 11 | Soms (5–29%) | In 1 aandoening |
| SLX4SLX4 structure-specific endonuclease subunit | Soms (5–29%) | In 2 aandoeningen |
| SMC5structural maintenance of chromosomes 5 | Soms (5–29%) | In 1 aandoening |
| SMG8SMG8 nonsense mediated mRNA decay factor | Soms (5–29%) | In 1 aandoening |
| SMOC1SPARC related modular calcium binding 1 | Soms (5–29%) | In 1 aandoening |
| SNIP1Smad nuclear interacting protein 1 | Soms (5–29%) | In 1 aandoening |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Soms (5–29%) | In 1 aandoening |
| SOX6SRY-box transcription factor 6 | Soms (5–29%) | In 1 aandoening |
| SPENspen family transcriptional repressor | Soms (5–29%) | In 1 aandoening |
| SPOPspeckle type BTB/POZ protein | Soms (5–29%) | In 1 aandoening |
| SRPX2sushi repeat containing protein X-linked 2 | Soms (5–29%) | In 1 aandoening |
| SRYsex determining region Y | 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 |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Soms (5–29%) | In 1 aandoening |
| TAF1TATA-box binding protein associated factor 1 | Soms (5–29%) | In 1 aandoening |
| TBC1D32TBC1 domain family member 32 | Soms (5–29%) | In 1 aandoening |
| TBCDtubulin folding cofactor D | Soms (5–29%) | In 2 aandoeningen |
| TBCKTBC1 domain containing kinase | Soms (5–29%) | In 1 aandoening |
| TBX1T-box transcription factor 1 | Soms (5–29%) | In 3 aandoeningen |
| THOC6THO complex subunit 6 | Soms (5–29%) | In 1 aandoening |
| TNRC6Btrinucleotide repeat containing adaptor 6B | Soms (5–29%) | In 1 aandoening |
| TP53RKTP53 regulating kinase | Soms (5–29%) | In 1 aandoening |
| TPM3tropomyosin 3 | Soms (5–29%) | In 2 aandoeningen |
| TPRKBTP53RK binding protein | Soms (5–29%) | In 1 aandoening |
| TRMT10AtRNA methyltransferase 10A | Soms (5–29%) | In 1 aandoening |
| TSEN54tRNA splicing endonuclease subunit 54 | Soms (5–29%) | In 1 aandoening |
| TUBBtubulin beta class I | Soms (5–29%) | In 2 aandoeningen |
| TUBB3tubulin beta 3 class III | Soms (5–29%) | In 1 aandoening |
| TWIST2twist family bHLH transcription factor 2 | Soms (5–29%) | In 1 aandoening |
| UBE2Tubiquitin conjugating enzyme E2 T | Soms (5–29%) | In 1 aandoening |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Soms (5–29%) | In 1 aandoening |
| WASHC5WASH complex subunit 5 | Soms (5–29%) | In 2 aandoeningen |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Soms (5–29%) | In 1 aandoening |
| WDR62WD repeat domain 62 | Soms (5–29%) | In 1 aandoening |
| WDR73WD repeat domain 73 | Soms (5–29%) | In 2 aandoeningen |
| WDR83OSWD repeat domain 83 opposite strand | Soms (5–29%) | In 1 aandoening |
| WWOXWW domain containing oxidoreductase | Soms (5–29%) | In 1 aandoening |
| XRCC2X-ray repair cross complementing 2 | Soms (5–29%) | In 1 aandoening |
| YRDCyrdC N6-threonylcarbamoyltransferase domain containing | Soms (5–29%) | In 1 aandoening |
| YY1YY1 transcription factor | Soms (5–29%) | In 2 aandoeningen |
| ZFXzinc finger protein X-linked | Soms (5–29%) | In 1 aandoening |
| ZNF699zinc finger protein 699 | Soms (5–29%) | In 1 aandoening |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Soms (5–29%) | In 1 aandoening |
| ADA2adenosine deaminase 2 | Zelden (1–4%) | In 1 aandoening |
| AFG2BAAA ATPase AFG2B | Zelden (1–4%) | In 1 aandoening |
| DZIP1LDAZ interacting zinc finger protein 1 like | Zelden (1–4%) | In 1 aandoening |
| FGF10fibroblast growth factor 10 | Zelden (1–4%) | In 1 aandoening |
| FGFR3fibroblast growth factor receptor 3 | Zelden (1–4%) | In 1 aandoening |
| GATA1GATA binding protein 1 | Zelden (1–4%) | In 1 aandoening |
| PKHD1PKHD1 ciliary IPT domain containing fibrocystin/polyductin | Zelden (1–4%) | In 1 aandoening |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Zelden (1–4%) | In 1 aandoening |
| PTBP1polypyrimidine tract binding protein 1 | 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 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 2 aandoeningen |
| 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 |
| RPS29ribosomal protein S29 | Zelden (1–4%) | In 1 aandoening |
| RPS7ribosomal protein S7 | Zelden (1–4%) | In 1 aandoening |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Niet vastgelegd | In 1 aandoening |
| ATRXATRX chromatin remodeler | Niet vastgelegd | In 1 aandoening |
| BCL11BBCL11 transcription factor B | Niet vastgelegd | In 1 aandoening |
| BMP4bone morphogenetic protein 4 | Niet vastgelegd | In 1 aandoening |
| BMPERBMP binding endothelial regulator | 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 |
| CCN2cellular communication network factor 2 | Niet vastgelegd | In 1 aandoening |
| CENPFcentromere protein F | Niet vastgelegd | In 1 aandoening |
| CHD7chromodomain helicase DNA binding protein 7 | Niet vastgelegd | In 1 aandoening |
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Niet vastgelegd | In 2 aandoeningen |
| CHRNDcholinergic receptor nicotinic delta subunit | Niet vastgelegd | In 1 aandoening |
| DDR2discoidin domain receptor tyrosine kinase 2 | Niet vastgelegd | In 1 aandoening |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Niet vastgelegd | In 1 aandoening |
| DOCK6dedicator of cytokinesis 6 | Niet vastgelegd | In 1 aandoening |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Niet vastgelegd | In 1 aandoening |
| ECEL1endothelin converting enzyme like 1 | Niet vastgelegd | In 1 aandoening |
| EDNRAendothelin receptor type A | Niet vastgelegd | In 1 aandoening |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Niet vastgelegd | In 1 aandoening |
| FLCNfolliculin | Niet vastgelegd | In 1 aandoening |
| FLVCR2FLVCR choline and putative heme transporter 2 | Niet vastgelegd | In 1 aandoening |
| GBA1glucosylceramidase beta 1 | Niet vastgelegd | In 1 aandoening |
| GNPATglyceronephosphate O-acyltransferase | Niet vastgelegd | In 1 aandoening |
| HRASHRas proto-oncogene, GTPase | Niet vastgelegd | In 1 aandoening |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Niet vastgelegd | In 1 aandoening |
| IDUAalpha-L-iduronidase | Niet vastgelegd | In 1 aandoening |
| IGF1Rinsulin like growth factor 1 receptor | Niet vastgelegd | In 1 aandoening |
| KNL1kinetochore scaffold 1 | Niet vastgelegd | In 1 aandoening |
| MAP2K1mitogen-activated protein kinase kinase 1 | Niet vastgelegd | In 2 aandoeningen |
| MAP2K2mitogen-activated protein kinase kinase 2 | 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 |
| MMP2matrix metallopeptidase 2 | Niet vastgelegd | In 1 aandoening |
| MYH8myosin heavy chain 8 | Niet vastgelegd | In 1 aandoening |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Niet vastgelegd | In 1 aandoening |
| PEX7peroxisomal biogenesis factor 7 | Niet vastgelegd | In 1 aandoening |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Niet vastgelegd | In 1 aandoening |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Niet vastgelegd | In 1 aandoening |
| PLA2G6phospholipase A2 group VI | Niet vastgelegd | In 1 aandoening |
| PRRX1paired related homeobox 1 | Niet vastgelegd | In 1 aandoening |
| PTDSS1phosphatidylserine synthase 1 | Niet vastgelegd | In 1 aandoening |
| RAB23RAB23, member RAS oncogene family | Niet vastgelegd | In 1 aandoening |
| RARBretinoic acid receptor beta | Niet vastgelegd | In 1 aandoening |
| RLIMring finger protein, LIM domain interacting | Niet vastgelegd | In 1 aandoening |
| SMOsmoothened, frizzled class receptor | Niet vastgelegd | In 1 aandoening |
| SPRED1sprouty related EVH1 domain containing 1 | Niet vastgelegd | In 1 aandoening |
| SSR4signal sequence receptor subunit 4 | Niet vastgelegd | In 1 aandoening |
| TAPT1transmembrane anterior posterior transformation 1 | Niet vastgelegd | In 1 aandoening |
| TBX15T-box transcription factor 15 | Niet vastgelegd | In 1 aandoening |
| TENT5Aterminal nucleotidyltransferase 5A | Niet vastgelegd | In 1 aandoening |
| TFAP2Atranscription factor AP-2 alpha | Niet vastgelegd | In 1 aandoening |
| TMCO1transmembrane and coiled-coil domains 1 | Niet vastgelegd | In 1 aandoening |
| TRRAPtransformation/transcription domain associated protein | Niet vastgelegd | In 1 aandoening |
| UBA1ubiquitin like modifier activating enzyme 1 | Niet vastgelegd | In 1 aandoening |
| VPS33BVPS33B late endosome and lysosome associated | Niet vastgelegd | In 1 aandoening |
| ZC4H2zinc finger C4H2-type containing | Niet vastgelegd | In 1 aandoening |
| ZMIZ1zinc finger MIZ-type containing 1 | Niet vastgelegd | In 1 aandoening |
| ZNF335zinc finger protein 335 | Niet vastgelegd | In 1 aandoening |
| ZNF341zinc finger protein 341 | Niet vastgelegd | In 1 aandoening |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
Smallere kenmerken
Bredere kenmerken
Waar dit vandaan komt
- De Human Phenotype Ontology, release 2026-09-01: het kenmerk, de namen, de definitie en de genen die ermee verbonden zijn. Meer informatie vindt u op hpo.jax.org.
- Gegevensrelease 2026.10.16-c6eea6bf.
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