Kenmerk
Receding chin
Klinische naam: Retrognathia
An abnormality in which the mandible is mislocalised posteriorly.
Samenvatting
- Ook bekend als
- Receding lower jaw, Weak chin, Weak jaw, Lower jaw retrognathia, Lower jaw retrusion, Mandibular retrognathia, Mandibular retrusion, Receding mandible, Retrognathia of lower jaw, Retrusion of lower jaw
ReferentiegenoomGRCh38hg38
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Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Receding chin 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 |
|---|---|---|
| ALG9ALG9 alpha-1,2-mannosyltransferase | Altijd | In 1 aandoening |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Altijd | In 1 aandoening |
| ARID2AT-rich interaction domain 2 | Altijd | In 1 aandoening |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Altijd | In 1 aandoening |
| ASPHaspartate beta-hydroxylase | Altijd | In 1 aandoening |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Altijd | In 1 aandoening |
| C1GALT1C1C1GALT1 specific chaperone 1 | Altijd | In 1 aandoening |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Altijd | In 1 aandoening |
| CIROZciliated left-right organizer protein containing ZP-N domains | Altijd | In 1 aandoening |
| COG7component of oligomeric golgi complex 7 | Altijd | In 2 aandoeningen |
| CPAPcentrosome assembly and centriole elongation protein | Altijd | In 1 aandoening |
| DHX9DExH-box helicase 9 | Altijd | In 1 aandoening |
| EEDembryonic ectoderm development | Altijd | In 1 aandoening |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Altijd | In 1 aandoening |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Altijd | In 2 aandoeningen |
| ERFETS2 repressor factor | Altijd | In 1 aandoening |
| EXOSC1exosome component 1 | Altijd | In 1 aandoening |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Altijd | In 2 aandoeningen |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Altijd | In 1 aandoening |
| FBN1fibrillin 1 | Altijd | In 4 aandoeningen |
| FLNAfilamin A | Altijd | In 1 aandoening |
| FTOFTO alpha-ketoglutarate dependent dioxygenase | Altijd | In 1 aandoening |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Altijd | In 1 aandoening |
| IGBP1immunoglobulin binding protein 1 | Altijd | In 2 aandoeningen |
| INTS11integrator complex subunit 11 | Altijd | In 1 aandoening |
| INTUinturned planar cell polarity protein | Altijd | In 1 aandoening |
| JKAMPJNK1/MAPK8 associated membrane protein | Altijd | In 1 aandoening |
| KDM6Alysine demethylase 6A | Altijd | In 1 aandoening |
| KIF15kinesin family member 15 | Altijd | In 1 aandoening |
| KLHL20kelch like family member 20 | Altijd | In 1 aandoening |
| KMT2Dlysine methyltransferase 2D | Altijd | In 1 aandoening |
| KPTNkaptin, actin binding protein | Altijd | In 1 aandoening |
| LBRlamin B receptor | Altijd | In 1 aandoening |
| LGI4leucine rich repeat LGI family member 4 | Altijd | In 1 aandoening |
| MAPKAPK5MAPK activated protein kinase 5 | Altijd | In 1 aandoening |
| MED16mediator complex subunit 16 | Altijd | In 1 aandoening |
| MOGSmannosyl-oligosaccharide glucosidase | Altijd | In 2 aandoeningen |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Altijd | In 1 aandoening |
| MYMKmyomaker, myoblast fusion factor | Altijd | In 1 aandoening |
| NAV3neuron navigator 3 | Altijd | In 1 aandoening |
Toon nog 305 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| NBNnibrin | Altijd | In 2 aandoeningen |
| NUDT2nudix hydrolase 2 | Altijd | In 1 aandoening |
| NUP188nucleoporin 188 | Altijd | In 1 aandoening |
| NUP88nucleoporin 88 | Altijd | In 1 aandoening |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Altijd | In 1 aandoening |
| PUF60poly(U) binding splicing factor 60 | Altijd | In 1 aandoening |
| RAP1GDS1Rap1 GTPase-GDP dissociation stimulator 1 | Altijd | In 1 aandoening |
| RMP64ribonuclease MRP subunit p64 | Altijd | In 1 aandoening |
| RPL17ribosomal protein L17 | Altijd | In 1 aandoening |
| RSRC1arginine and serine rich coiled-coil 1 | Altijd | In 1 aandoening |
| SCNM1sodium channel modifier 1 | Altijd | In 1 aandoening |
| SMC1Astructural maintenance of chromosomes 1A | Altijd | In 1 aandoening |
| TAF4TATA-box binding protein associated factor 4 | Altijd | In 1 aandoening |
| TGFB3transforming growth factor beta 3 | Altijd | In 2 aandoeningen |
| TMEM107transmembrane protein 107 | Altijd | In 1 aandoening |
| TXNDC15thioredoxin domain containing 15 | Altijd | In 1 aandoening |
| UBA2ubiquitin like modifier activating enzyme 2 | Altijd | In 1 aandoening |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Altijd | In 1 aandoening |
| ACTBactin beta | Heel vaak (80–99%) | In 2 aandoeningen |
| ACTG1actin gamma 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| CDC45cell division cycle 45 | Heel vaak (80–99%) | In 1 aandoening |
| CDC6cell division cycle 6 | Heel vaak (80–99%) | In 1 aandoening |
| CDT1chromatin licensing and DNA replication factor 1 | Heel vaak (80–99%) | In 1 aandoening |
| DHCR2424-dehydrocholesterol reductase | Heel vaak (80–99%) | In 1 aandoening |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Heel vaak (80–99%) | In 1 aandoening |
| EMC1ER membrane protein complex subunit 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| FAM20CFAM20C golgi associated secretory pathway kinase | Heel vaak (80–99%) | In 1 aandoening |
| FOXE1forkhead box E1 | Heel vaak (80–99%) | In 1 aandoening |
| GMNNgeminin DNA replication inhibitor | Heel vaak (80–99%) | In 1 aandoening |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Heel vaak (80–99%) | In 1 aandoening |
| HYMAIhydatidiform mole associated and imprinted | Heel vaak (80–99%) | In 1 aandoening |
| IPO8importin 8 | Heel vaak (80–99%) | In 1 aandoening |
| KAT6Blysine acetyltransferase 6B | Heel vaak (80–99%) | In 1 aandoening |
| KIF7kinesin family member 7 | Heel vaak (80–99%) | In 1 aandoening |
| NFIXnuclear factor I X | Heel vaak (80–99%) | In 2 aandoeningen |
| NSD1nuclear receptor binding SET domain protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| ORC1origin recognition complex subunit 1 | Heel vaak (80–99%) | In 1 aandoening |
| ORC4origin recognition complex subunit 4 | Heel vaak (80–99%) | In 1 aandoening |
| ORC6origin recognition complex subunit 6 | Heel vaak (80–99%) | In 1 aandoening |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Heel vaak (80–99%) | In 1 aandoening |
| PLAGL1PLAG1 like zinc finger 1 | Heel vaak (80–99%) | In 1 aandoening |
| POLA1DNA polymerase alpha 1, catalytic subunit | Heel vaak (80–99%) | In 2 aandoeningen |
| POLR1BRNA polymerase I subunit B | Heel vaak (80–99%) | In 1 aandoening |
| POLR1CRNA polymerase I and III subunit C | Heel vaak (80–99%) | In 1 aandoening |
| POLR1DRNA polymerase I and III subunit D | Heel vaak (80–99%) | In 2 aandoeningen |
| POLR3ARNA polymerase III subunit A | Heel vaak (80–99%) | In 1 aandoening |
| RNU4ATACRNA, U4atac small nuclear | Heel vaak (80–99%) | In 1 aandoening |
| SKISKI proto-oncogene | Heel vaak (80–99%) | In 1 aandoening |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Heel vaak (80–99%) | In 1 aandoening |
| TCOF1treacle ribosome biogenesis factor 1 | Heel vaak (80–99%) | In 1 aandoening |
| TCTN3tectonic family member 3 | Heel vaak (80–99%) | In 2 aandoeningen |
| UBE3Bubiquitin protein ligase E3B | Heel vaak (80–99%) | In 1 aandoening |
| AARS1alanyl-tRNA synthetase 1 | Vaak (30–79%) | In 2 aandoeningen |
| ABAT4-aminobutyrate aminotransferase | Vaak (30–79%) | In 1 aandoening |
| ARID1BAT-rich interaction domain 1B | Vaak (30–79%) | In 1 aandoening |
| BCL11ABCL11 transcription factor A | Vaak (30–79%) | In 2 aandoeningen |
| BIN1bridging integrator 1 | Vaak (30–79%) | In 1 aandoening |
| BLMBLM RecQ like helicase | Vaak (30–79%) | In 1 aandoening |
| BRCC3BRCA1/BRCA2-containing complex subunit 3 | Vaak (30–79%) | In 1 aandoening |
| CASKcalcium/calmodulin dependent serine protein kinase | Vaak (30–79%) | In 1 aandoening |
| CBLCbl proto-oncogene | Vaak (30–79%) | In 1 aandoening |
| CEP295centrosomal protein 295 | Vaak (30–79%) | In 1 aandoening |
| CNTNAP1contactin associated protein 1 | Vaak (30–79%) | In 1 aandoening |
| COL13A1collagen type XIII alpha 1 chain | Vaak (30–79%) | In 1 aandoening |
| COL1A1collagen type I alpha 1 chain | Vaak (30–79%) | In 1 aandoening |
| COL1A2collagen type I alpha 2 chain | Vaak (30–79%) | In 1 aandoening |
| COX7Bcytochrome c oxidase subunit 7B | Vaak (30–79%) | In 1 aandoening |
| CTU2cytosolic thiouridylase subunit 2 | Vaak (30–79%) | In 1 aandoening |
| DLK1delta like non-canonical Notch ligand 1 | 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 2 aandoeningen |
| DVL3dishevelled segment polarity protein 3 | Vaak (30–79%) | In 1 aandoening |
| EDEM3ER degradation enhancing alpha-mannosidase like protein 3 | Vaak (30–79%) | In 1 aandoening |
| EDN1endothelin 1 | Vaak (30–79%) | In 1 aandoening |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Vaak (30–79%) | In 2 aandoeningen |
| EP300EP300 lysine acetyltransferase | Vaak (30–79%) | In 2 aandoeningen |
| EXOSC5exosome component 5 | Vaak (30–79%) | In 1 aandoening |
| FBXO31F-box protein 31 | Vaak (30–79%) | In 1 aandoening |
| FBXW11F-box and WD repeat domain containing 11 | Vaak (30–79%) | In 1 aandoening |
| FDFT1farnesyl-diphosphate farnesyltransferase 1 | Vaak (30–79%) | In 1 aandoening |
| FHL1four and a half LIM domains 1 | Vaak (30–79%) | In 1 aandoening |
| FOXP1forkhead box P1 | Vaak (30–79%) | In 2 aandoeningen |
| FUT8fucosyltransferase 8 | Vaak (30–79%) | In 1 aandoening |
| FZD2frizzled class receptor 2 | Vaak (30–79%) | In 1 aandoening |
| H4C3H4 clustered histone 3 | 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 |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Vaak (30–79%) | In 1 aandoening |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Vaak (30–79%) | In 1 aandoening |
| IBA57iron-sulfur cluster assembly factor IBA57 | Vaak (30–79%) | In 1 aandoening |
| IGF2insulin like growth factor 2 | Vaak (30–79%) | In 1 aandoening |
| KDM2Blysine demethylase 2B | Vaak (30–79%) | In 1 aandoening |
| LMNAlamin A/C | Vaak (30–79%) | In 2 aandoeningen |
| LTBP4latent transforming growth factor beta binding protein 4 | Vaak (30–79%) | In 1 aandoening |
| MEG3maternally expressed 3 | Vaak (30–79%) | In 2 aandoeningen |
| MESDmesoderm development LRP chaperone | Vaak (30–79%) | In 1 aandoening |
| NAA80N-alpha-acetyltransferase 80, NatH catalytic subunit | Vaak (30–79%) | In 1 aandoening |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Vaak (30–79%) | In 1 aandoening |
| OTUD5OTU deubiquitinase 5 | Vaak (30–79%) | In 1 aandoening |
| OTUD6BOTU deubiquitinase 6B | Vaak (30–79%) | In 2 aandoeningen |
| PCNTpericentrin | Vaak (30–79%) | In 2 aandoeningen |
| PMM2phosphomannomutase 2 | 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 |
| PREPLprolyl endopeptidase like | Vaak (30–79%) | In 1 aandoening |
| PRR12proline rich 12 | Vaak (30–79%) | In 1 aandoening |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Vaak (30–79%) | In 1 aandoening |
| PTH1Rparathyroid hormone 1 receptor | Vaak (30–79%) | In 1 aandoening |
| RELREL proto-oncogene, NF-kB subunit | Vaak (30–79%) | In 1 aandoening |
| ROR2ROR family WNT receptor 2 | Vaak (30–79%) | In 1 aandoening |
| RTL1retrotransposon Gag like 1 | Vaak (30–79%) | In 2 aandoeningen |
| RYR1ryanodine receptor 1 | Vaak (30–79%) | In 1 aandoening |
| SETD2SET domain containing 2, histone lysine methyltransferase | Vaak (30–79%) | In 1 aandoening |
| SLC29A3solute carrier family 29 member 3 | Vaak (30–79%) | In 1 aandoening |
| SLC35B2solute carrier family 35 member B2 | Vaak (30–79%) | In 1 aandoening |
| SLC3A1solute carrier family 3 member 1 | Vaak (30–79%) | In 1 aandoening |
| SMC3structural maintenance of chromosomes 3 | Vaak (30–79%) | In 1 aandoening |
| SPEGstriated muscle enriched protein kinase | Vaak (30–79%) | In 2 aandoeningen |
| TGFB2transforming growth factor beta 2 | Vaak (30–79%) | In 2 aandoeningen |
| TGFBR1transforming growth factor beta receptor 1 | Vaak (30–79%) | In 2 aandoeningen |
| TGFBR2transforming growth factor beta receptor 2 | Vaak (30–79%) | In 2 aandoeningen |
| THOC6THO complex subunit 6 | Vaak (30–79%) | In 1 aandoening |
| TMEM70transmembrane protein 70 | Vaak (30–79%) | In 1 aandoening |
| TSHZ3teashirt zinc finger homeobox 3 | Vaak (30–79%) | In 1 aandoening |
| TTNtitin | Vaak (30–79%) | In 1 aandoening |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Vaak (30–79%) | In 1 aandoening |
| WBP4WW domain binding protein 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 |
| ZMPSTE24zinc metallopeptidase STE24 | Vaak (30–79%) | In 1 aandoening |
| ACTA2actin alpha 2, smooth muscle | Soms (5–29%) | In 1 aandoening |
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Soms (5–29%) | In 1 aandoening |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Soms (5–29%) | In 1 aandoening |
| ADAMTSL2ADAMTS like 2 | Soms (5–29%) | In 1 aandoening |
| AFG2AAAA ATPase AFG2A | Soms (5–29%) | In 1 aandoening |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Soms (5–29%) | In 1 aandoening |
| AMER1APC membrane recruitment protein 1 | Soms (5–29%) | In 1 aandoening |
| ARL6ARF like GTPase 6 | Soms (5–29%) | In 1 aandoening |
| ASXL1ASXL transcriptional regulator 1 | Soms (5–29%) | In 2 aandoeningen |
| ASXL3ASXL transcriptional regulator 3 | Soms (5–29%) | In 1 aandoening |
| ATG7autophagy related 7 | Soms (5–29%) | In 1 aandoening |
| ATXN7L3ataxin 7 like 3 | Soms (5–29%) | In 1 aandoening |
| AUTS2activator of transcription and developmental regulator AUTS2 | Soms (5–29%) | In 1 aandoening |
| BBIP1BBSome interacting protein 1 | Soms (5–29%) | In 1 aandoening |
| BBS1Bardet-Biedl syndrome 1 | Soms (5–29%) | In 1 aandoening |
| BBS10Bardet-Biedl syndrome 10 | Soms (5–29%) | In 1 aandoening |
| BBS12Bardet-Biedl syndrome 12 | Soms (5–29%) | In 1 aandoening |
| BBS2Bardet-Biedl syndrome 2 | Soms (5–29%) | In 1 aandoening |
| BBS4Bardet-Biedl syndrome 4 | Soms (5–29%) | In 1 aandoening |
| BBS5Bardet-Biedl syndrome 5 | Soms (5–29%) | In 1 aandoening |
| BBS7Bardet-Biedl syndrome 7 | Soms (5–29%) | In 1 aandoening |
| BBS9Bardet-Biedl syndrome 9 | Soms (5–29%) | In 1 aandoening |
| CA2carbonic anhydrase 2 | Soms (5–29%) | In 1 aandoening |
| CARS1cysteinyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| CCBE1collagen and calcium binding EGF domains 1 | Soms (5–29%) | In 2 aandoeningen |
| CEP19centrosomal protein 19 | Soms (5–29%) | In 1 aandoening |
| CEP290centrosomal protein 290 | Soms (5–29%) | In 1 aandoening |
| CFAP418cilia and flagella associated protein 418 | Soms (5–29%) | In 1 aandoening |
| CHD8chromodomain helicase DNA binding protein 8 | Soms (5–29%) | In 1 aandoening |
| COG5component of oligomeric golgi complex 5 | Soms (5–29%) | In 1 aandoening |
| COG6component of oligomeric golgi complex 6 | Soms (5–29%) | In 1 aandoening |
| CTBP1C-terminal binding protein 1 | Soms (5–29%) | In 1 aandoening |
| CTNNB1catenin beta 1 | Soms (5–29%) | In 1 aandoening |
| DBR1debranching RNA lariats 1 | Soms (5–29%) | In 2 aandoeningen |
| DDB1damage specific DNA binding protein 1 | Soms (5–29%) | In 1 aandoening |
| DOT1LDOT1 like histone lysine methyltransferase | Soms (5–29%) | In 1 aandoening |
| DPYDdihydropyrimidine dehydrogenase | Soms (5–29%) | In 1 aandoening |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Soms (5–29%) | In 1 aandoening |
| ELNelastin | Soms (5–29%) | In 1 aandoening |
| EMILIN1elastin microfibril interfacer 1 | Soms (5–29%) | In 1 aandoening |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Soms (5–29%) | In 1 aandoening |
| EXOC7exocyst complex component 7 | Soms (5–29%) | In 1 aandoening |
| EYA1EYA transcriptional coactivator and phosphatase 1 | Soms (5–29%) | In 2 aandoeningen |
| FANCBFA complementation group B | Soms (5–29%) | In 1 aandoening |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Soms (5–29%) | In 1 aandoening |
| FAT4FAT atypical cadherin 4 | Soms (5–29%) | In 1 aandoening |
| FBXO11F-box protein 11 | Soms (5–29%) | In 1 aandoening |
| FOXE3forkhead box E3 | Soms (5–29%) | In 1 aandoening |
| FRA10AC1FRA10A associated CGG repeat 1 | Soms (5–29%) | In 1 aandoening |
| FRMPD4FERM and PDZ domain containing 4 | Soms (5–29%) | In 1 aandoening |
| FRYLFRY like transcription coactivator | Soms (5–29%) | In 1 aandoening |
| GABRA3gamma-aminobutyric acid type A receptor subunit alpha3 | Soms (5–29%) | In 1 aandoening |
| GLDNgliomedin | Soms (5–29%) | In 1 aandoening |
| GTF2E2general transcription factor IIE subunit 2 | Soms (5–29%) | In 1 aandoening |
| GTF2H5general transcription factor IIH subunit 5 | Soms (5–29%) | In 1 aandoening |
| H4C5H4 clustered histone 5 | Soms (5–29%) | In 1 aandoening |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Soms (5–29%) | In 1 aandoening |
| HEY2hes related family bHLH transcription factor with YRPW motif 2 | Soms (5–29%) | In 1 aandoening |
| HIVEP2HIVEP zinc finger 2 | Soms (5–29%) | In 1 aandoening |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Soms (5–29%) | In 1 aandoening |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Soms (5–29%) | In 1 aandoening |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Soms (5–29%) | In 1 aandoening |
| IFT172intraflagellar transport 172 | Soms (5–29%) | In 1 aandoening |
| IFT27intraflagellar transport 27 | Soms (5–29%) | In 1 aandoening |
| IFT74intraflagellar transport 74 | Soms (5–29%) | In 1 aandoening |
| JARID2jumonji and AT-rich interaction domain containing 2 | Soms (5–29%) | In 1 aandoening |
| KIF26Akinesin family member 26A | Soms (5–29%) | In 1 aandoening |
| KMT2Blysine methyltransferase 2B | Soms (5–29%) | In 1 aandoening |
| LOXlysyl oxidase | Soms (5–29%) | In 1 aandoening |
| LZTFL1leucine zipper transcription factor like 1 | Soms (5–29%) | In 1 aandoening |
| MADDMAP kinase activating death domain | Soms (5–29%) | In 1 aandoening |
| MAMLD1mastermind like domain containing 1 | Soms (5–29%) | In 1 aandoening |
| MAT2Amethionine adenosyltransferase 2A | Soms (5–29%) | In 1 aandoening |
| MED25mediator complex subunit 25 | Soms (5–29%) | In 2 aandoeningen |
| MEGF8multiple EGF like domains 8 | Soms (5–29%) | In 1 aandoening |
| MFAP5microfibril associated protein 5 | Soms (5–29%) | In 1 aandoening |
| MIA3MIA SH3 domain ER export factor 3 | Soms (5–29%) | In 1 aandoening |
| MKKSMKKS centrosomal shuttling protein | Soms (5–29%) | In 1 aandoening |
| MKS1MKS transition zone complex subunit 1 | Soms (5–29%) | In 1 aandoening |
| MPLKIPM-phase specific PLK1 interacting protein | Soms (5–29%) | In 2 aandoeningen |
| MSL2MSL complex subunit 2 | Soms (5–29%) | In 1 aandoening |
| MSL3MSL complex subunit 3 | Soms (5–29%) | In 1 aandoening |
| MTM1myotubularin 1 | Soms (5–29%) | In 1 aandoening |
| MYH11myosin heavy chain 11 | Soms (5–29%) | In 1 aandoening |
| MYL11myosin light chain 11 | Soms (5–29%) | In 1 aandoening |
| MYLKmyosin light chain kinase | Soms (5–29%) | In 1 aandoening |
| NARS1asparaginyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| NPHP1nephrocystin 1 | Soms (5–29%) | In 1 aandoening |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Soms (5–29%) | In 1 aandoening |
| ODC1ornithine decarboxylase 1 | Soms (5–29%) | In 1 aandoening |
| PDGFRBplatelet derived growth factor receptor beta | Soms (5–29%) | In 1 aandoening |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Soms (5–29%) | In 1 aandoening |
| PRKG1protein kinase cGMP-dependent 1 | Soms (5–29%) | In 1 aandoening |
| PRMT7protein arginine methyltransferase 7 | Soms (5–29%) | In 2 aandoeningen |
| RAB34RAB34, member RAS oncogene family | Soms (5–29%) | In 1 aandoening |
| RAP1BRAP1B, member of RAS oncogene family | Soms (5–29%) | In 1 aandoening |
| RNF113Aring finger protein 113A | Soms (5–29%) | In 1 aandoening |
| RNU4-2RNA, U4 small nuclear 2 | Soms (5–29%) | In 1 aandoening |
| RSPO2R-spondin 2 | Soms (5–29%) | In 1 aandoening |
| RTTNrotatin | Soms (5–29%) | In 1 aandoening |
| SCAPERS-phase cyclin A associated protein in the ER | Soms (5–29%) | In 1 aandoening |
| SCLT1sodium channel and clathrin linker 1 | Soms (5–29%) | In 1 aandoening |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Soms (5–29%) | In 1 aandoening |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Soms (5–29%) | In 1 aandoening |
| SEC61A1SEC61 translocon subunit alpha 1 | Soms (5–29%) | In 1 aandoening |
| SETBP1SET binding protein 1 | 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 |
| SIX1SIX homeobox 1 | Soms (5–29%) | In 1 aandoening |
| SIX5SIX homeobox 5 | Soms (5–29%) | In 1 aandoening |
| SLC4A10solute carrier family 4 member 10 | Soms (5–29%) | In 1 aandoening |
| SMAD2SMAD family member 2 | Soms (5–29%) | In 1 aandoening |
| SMAD3SMAD family member 3 | Soms (5–29%) | In 3 aandoeningen |
| SMAD4SMAD family member 4 | Soms (5–29%) | In 1 aandoening |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Soms (5–29%) | In 1 aandoening |
| SPENspen family transcriptional repressor | Soms (5–29%) | In 1 aandoening |
| TARS1threonyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| TBCBtubulin folding cofactor B | Soms (5–29%) | In 1 aandoening |
| THSD4thrombospondin type 1 domain containing 4 | Soms (5–29%) | In 1 aandoening |
| TRIM32tripartite motif containing 32 | Soms (5–29%) | In 1 aandoening |
| TRIOtrio Rho guanine nucleotide exchange factor | Soms (5–29%) | In 1 aandoening |
| TRIP11thyroid hormone receptor interactor 11 | Soms (5–29%) | In 1 aandoening |
| TTC8tetratricopeptide repeat domain 8 | Soms (5–29%) | In 1 aandoening |
| WBP11WW domain binding protein 11 | Soms (5–29%) | In 1 aandoening |
| WDPCPWD repeat containing planar cell polarity effector | Soms (5–29%) | In 1 aandoening |
| WDR11WD repeat domain 11 | Soms (5–29%) | In 1 aandoening |
| WDR83OSWD repeat domain 83 opposite strand | Soms (5–29%) | In 1 aandoening |
| WSB2WD repeat and SOCS box containing 2 | Soms (5–29%) | In 1 aandoening |
| ZFXzinc finger protein X-linked | Soms (5–29%) | In 1 aandoening |
| ZNF699zinc finger protein 699 | Soms (5–29%) | In 1 aandoening |
| FOXF1forkhead box F1 | Zelden (1–4%) | In 1 aandoening |
| ACTA1actin alpha 1, skeletal muscle | Niet vastgelegd | In 1 aandoening |
| ARCN1archain 1 coat protein complex I subunit delta | Niet vastgelegd | In 1 aandoening |
| ASXL2ASXL transcriptional regulator 2 | Niet vastgelegd | In 1 aandoening |
| ATP6V1AATPase H+ transporting V1 subunit A | Niet vastgelegd | In 1 aandoening |
| BMP4bone morphogenetic protein 4 | Niet vastgelegd | In 1 aandoening |
| CEP135centrosomal protein 135 | Niet vastgelegd | In 1 aandoening |
| CEP152centrosomal protein 152 | Niet vastgelegd | In 1 aandoening |
| COL3A1collagen type III alpha 1 chain | Niet vastgelegd | In 1 aandoening |
| CREBBPCREB binding lysine acetyltransferase | Niet vastgelegd | In 1 aandoening |
| CRLF1cytokine receptor like factor 1 | Niet vastgelegd | In 1 aandoening |
| CRPPACDP-L-ribitol pyrophosphorylase A | Niet vastgelegd | In 1 aandoening |
| DGCR2DiGeorge syndrome critical region gene 2 | Niet vastgelegd | In 1 aandoening |
| DGCR6DiGeorge syndrome critical region gene 6 | Niet vastgelegd | In 1 aandoening |
| DGCR8DGCR8 microprocessor complex subunit | Niet vastgelegd | In 1 aandoening |
| ESS2ess-2 spliceosome associated protein | Niet vastgelegd | In 1 aandoening |
| GBA1glucosylceramidase beta 1 | Niet vastgelegd | In 1 aandoening |
| GLE1GLE1 RNA export mediator | Niet vastgelegd | In 1 aandoening |
| HDAC8histone deacetylase 8 | Niet vastgelegd | In 1 aandoening |
| IGF1Rinsulin like growth factor 1 receptor | Niet vastgelegd | In 1 aandoening |
| ITGA8integrin subunit alpha 8 | 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 |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Niet vastgelegd | In 1 aandoening |
| MRPS22mitochondrial ribosomal protein S22 | Niet vastgelegd | In 1 aandoening |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Niet vastgelegd | In 1 aandoening |
| PUS7pseudouridine synthase 7 | Niet vastgelegd | In 1 aandoening |
| RARBretinoic acid receptor beta | Niet vastgelegd | In 1 aandoening |
| RBBP8RB binding protein 8, endonuclease | Niet vastgelegd | In 1 aandoening |
| RPL5ribosomal protein L5 | Niet vastgelegd | In 1 aandoening |
| RPS19ribosomal protein S19 | Niet vastgelegd | In 1 aandoening |
| SF3B4splicing factor 3b subunit 4 | Niet vastgelegd | In 1 aandoening |
| SLC25A24solute carrier family 25 member 24 | Niet vastgelegd | In 1 aandoening |
| SLC6A9solute carrier family 6 member 9 | Niet vastgelegd | In 1 aandoening |
| SMOC1SPARC related modular calcium binding 1 | Niet vastgelegd | In 1 aandoening |
| SRCAPSnf2 related CREBBP activator protein | Niet vastgelegd | In 1 aandoening |
| TBX1T-box transcription factor 1 | Niet vastgelegd | In 1 aandoening |
| TNPO2transportin 2 | Niet vastgelegd | In 1 aandoening |
| TPM2tropomyosin 2 | Niet vastgelegd | In 1 aandoening |
| WDR35WD repeat domain 35 | Niet vastgelegd | In 1 aandoening |
| WNK3WNK lysine deficient protein kinase 3 | Niet vastgelegd | In 1 aandoening |
| ZBTB24zinc finger and BTB domain containing 24 | Niet vastgelegd | In 1 aandoening |
| ZC4H2zinc finger C4H2-type containing | Niet vastgelegd | In 1 aandoening |
| ZNHIT3zinc finger HIT-type containing 3 | Niet vastgelegd | In 1 aandoening |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
Smallere kenmerken
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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