Træk
Receding chin
Klinisk navn: Retrognathia
An abnormality in which the mandible is mislocalised posteriorly.
Resumé
- Også kaldet
- 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
ReferencegenomGRCh38hg38
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Bestil min Genome Test345 gener knyttet til Receding chin
Ændringer i disse gener forårsager sjældne tilstande, hvor Receding chin ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ALG9ALG9 alpha-1,2-mannosyltransferase | Altid | I 1 tilstand |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Altid | I 1 tilstand |
| ARID2AT-rich interaction domain 2 | Altid | I 1 tilstand |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Altid | I 1 tilstand |
| ASPHaspartate beta-hydroxylase | Altid | I 1 tilstand |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Altid | I 1 tilstand |
| C1GALT1C1C1GALT1 specific chaperone 1 | Altid | I 1 tilstand |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Altid | I 1 tilstand |
| CIROZciliated left-right organizer protein containing ZP-N domains | Altid | I 1 tilstand |
| COG7component of oligomeric golgi complex 7 | Altid | I 2 tilstande |
| CPAPcentrosome assembly and centriole elongation protein | Altid | I 1 tilstand |
| DHX9DExH-box helicase 9 | Altid | I 1 tilstand |
| EEDembryonic ectoderm development | Altid | I 1 tilstand |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Altid | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Altid | I 2 tilstande |
| ERFETS2 repressor factor | Altid | I 1 tilstand |
| EXOSC1exosome component 1 | Altid | I 1 tilstand |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Altid | I 2 tilstande |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Altid | I 1 tilstand |
| FBN1fibrillin 1 | Altid | I 4 tilstande |
| FLNAfilamin A | Altid | I 1 tilstand |
| FTOFTO alpha-ketoglutarate dependent dioxygenase | Altid | I 1 tilstand |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Altid | I 1 tilstand |
| IGBP1immunoglobulin binding protein 1 | Altid | I 2 tilstande |
| INTS11integrator complex subunit 11 | Altid | I 1 tilstand |
| INTUinturned planar cell polarity protein | Altid | I 1 tilstand |
| JKAMPJNK1/MAPK8 associated membrane protein | Altid | I 1 tilstand |
| KDM6Alysine demethylase 6A | Altid | I 1 tilstand |
| KIF15kinesin family member 15 | Altid | I 1 tilstand |
| KLHL20kelch like family member 20 | Altid | I 1 tilstand |
| KMT2Dlysine methyltransferase 2D | Altid | I 1 tilstand |
| KPTNkaptin, actin binding protein | Altid | I 1 tilstand |
| LBRlamin B receptor | Altid | I 1 tilstand |
| LGI4leucine rich repeat LGI family member 4 | Altid | I 1 tilstand |
| MAPKAPK5MAPK activated protein kinase 5 | Altid | I 1 tilstand |
| MED16mediator complex subunit 16 | Altid | I 1 tilstand |
| MOGSmannosyl-oligosaccharide glucosidase | Altid | I 2 tilstande |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Altid | I 1 tilstand |
| MYMKmyomaker, myoblast fusion factor | Altid | I 1 tilstand |
| NAV3neuron navigator 3 | Altid | I 1 tilstand |
Vis 305 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| NBNnibrin | Altid | I 2 tilstande |
| NUDT2nudix hydrolase 2 | Altid | I 1 tilstand |
| NUP188nucleoporin 188 | Altid | I 1 tilstand |
| NUP88nucleoporin 88 | Altid | I 1 tilstand |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Altid | I 1 tilstand |
| PUF60poly(U) binding splicing factor 60 | Altid | I 1 tilstand |
| RAP1GDS1Rap1 GTPase-GDP dissociation stimulator 1 | Altid | I 1 tilstand |
| RMP64ribonuclease MRP subunit p64 | Altid | I 1 tilstand |
| RPL17ribosomal protein L17 | Altid | I 1 tilstand |
| RSRC1arginine and serine rich coiled-coil 1 | Altid | I 1 tilstand |
| SCNM1sodium channel modifier 1 | Altid | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Altid | I 1 tilstand |
| TAF4TATA-box binding protein associated factor 4 | Altid | I 1 tilstand |
| TGFB3transforming growth factor beta 3 | Altid | I 2 tilstande |
| TMEM107transmembrane protein 107 | Altid | I 1 tilstand |
| TXNDC15thioredoxin domain containing 15 | Altid | I 1 tilstand |
| UBA2ubiquitin like modifier activating enzyme 2 | Altid | I 1 tilstand |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Altid | I 1 tilstand |
| ACTBactin beta | Meget ofte (80–99 %) | I 2 tilstande |
| ACTG1actin gamma 1 | Meget ofte (80–99 %) | I 2 tilstande |
| CDC45cell division cycle 45 | Meget ofte (80–99 %) | I 1 tilstand |
| CDC6cell division cycle 6 | Meget ofte (80–99 %) | I 1 tilstand |
| CDT1chromatin licensing and DNA replication factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| DHCR2424-dehydrocholesterol reductase | Meget ofte (80–99 %) | I 1 tilstand |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Meget ofte (80–99 %) | I 1 tilstand |
| EMC1ER membrane protein complex subunit 1 | Meget ofte (80–99 %) | I 2 tilstande |
| FAM20CFAM20C golgi associated secretory pathway kinase | Meget ofte (80–99 %) | I 1 tilstand |
| FOXE1forkhead box E1 | Meget ofte (80–99 %) | I 1 tilstand |
| GMNNgeminin DNA replication inhibitor | Meget ofte (80–99 %) | I 1 tilstand |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Meget ofte (80–99 %) | I 1 tilstand |
| HYMAIhydatidiform mole associated and imprinted | Meget ofte (80–99 %) | I 1 tilstand |
| IPO8importin 8 | Meget ofte (80–99 %) | I 1 tilstand |
| KAT6Blysine acetyltransferase 6B | Meget ofte (80–99 %) | I 1 tilstand |
| KIF7kinesin family member 7 | Meget ofte (80–99 %) | I 1 tilstand |
| NFIXnuclear factor I X | Meget ofte (80–99 %) | I 2 tilstande |
| NSD1nuclear receptor binding SET domain protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| ORC1origin recognition complex subunit 1 | Meget ofte (80–99 %) | I 1 tilstand |
| ORC4origin recognition complex subunit 4 | Meget ofte (80–99 %) | I 1 tilstand |
| ORC6origin recognition complex subunit 6 | Meget ofte (80–99 %) | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Meget ofte (80–99 %) | I 1 tilstand |
| PLAGL1PLAG1 like zinc finger 1 | Meget ofte (80–99 %) | I 1 tilstand |
| POLA1DNA polymerase alpha 1, catalytic subunit | Meget ofte (80–99 %) | I 2 tilstande |
| POLR1BRNA polymerase I subunit B | Meget ofte (80–99 %) | I 1 tilstand |
| POLR1CRNA polymerase I and III subunit C | Meget ofte (80–99 %) | I 1 tilstand |
| POLR1DRNA polymerase I and III subunit D | Meget ofte (80–99 %) | I 2 tilstande |
| POLR3ARNA polymerase III subunit A | Meget ofte (80–99 %) | I 1 tilstand |
| RNU4ATACRNA, U4atac small nuclear | Meget ofte (80–99 %) | I 1 tilstand |
| SKISKI proto-oncogene | Meget ofte (80–99 %) | I 1 tilstand |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Meget ofte (80–99 %) | I 1 tilstand |
| TCOF1treacle ribosome biogenesis factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| TCTN3tectonic family member 3 | Meget ofte (80–99 %) | I 2 tilstande |
| UBE3Bubiquitin protein ligase E3B | Meget ofte (80–99 %) | I 1 tilstand |
| AARS1alanyl-tRNA synthetase 1 | Ofte (30–79 %) | I 2 tilstande |
| ABAT4-aminobutyrate aminotransferase | Ofte (30–79 %) | I 1 tilstand |
| ARID1BAT-rich interaction domain 1B | Ofte (30–79 %) | I 1 tilstand |
| BCL11ABCL11 transcription factor A | Ofte (30–79 %) | I 2 tilstande |
| BIN1bridging integrator 1 | Ofte (30–79 %) | I 1 tilstand |
| BLMBLM RecQ like helicase | Ofte (30–79 %) | I 1 tilstand |
| BRCC3BRCA1/BRCA2-containing complex subunit 3 | Ofte (30–79 %) | I 1 tilstand |
| CASKcalcium/calmodulin dependent serine protein kinase | Ofte (30–79 %) | I 1 tilstand |
| CBLCbl proto-oncogene | Ofte (30–79 %) | I 1 tilstand |
| CEP295centrosomal protein 295 | Ofte (30–79 %) | I 1 tilstand |
| CNTNAP1contactin associated protein 1 | Ofte (30–79 %) | I 1 tilstand |
| COL13A1collagen type XIII alpha 1 chain | Ofte (30–79 %) | I 1 tilstand |
| COL1A1collagen type I alpha 1 chain | Ofte (30–79 %) | I 1 tilstand |
| COL1A2collagen type I alpha 2 chain | Ofte (30–79 %) | I 1 tilstand |
| COX7Bcytochrome c oxidase subunit 7B | Ofte (30–79 %) | I 1 tilstand |
| CTU2cytosolic thiouridylase subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| DLK1delta like non-canonical Notch ligand 1 | Ofte (30–79 %) | I 2 tilstande |
| DSTYKdual serine/threonine and tyrosine protein kinase | Ofte (30–79 %) | I 1 tilstand |
| DVL1dishevelled segment polarity protein 1 | Ofte (30–79 %) | I 2 tilstande |
| DVL3dishevelled segment polarity protein 3 | Ofte (30–79 %) | I 1 tilstand |
| EDEM3ER degradation enhancing alpha-mannosidase like protein 3 | Ofte (30–79 %) | I 1 tilstand |
| EDN1endothelin 1 | Ofte (30–79 %) | I 1 tilstand |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Ofte (30–79 %) | I 2 tilstande |
| EP300EP300 lysine acetyltransferase | Ofte (30–79 %) | I 2 tilstande |
| EXOSC5exosome component 5 | Ofte (30–79 %) | I 1 tilstand |
| FBXO31F-box protein 31 | Ofte (30–79 %) | I 1 tilstand |
| FBXW11F-box and WD repeat domain containing 11 | Ofte (30–79 %) | I 1 tilstand |
| FDFT1farnesyl-diphosphate farnesyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| FHL1four and a half LIM domains 1 | Ofte (30–79 %) | I 1 tilstand |
| FOXP1forkhead box P1 | Ofte (30–79 %) | I 2 tilstande |
| FUT8fucosyltransferase 8 | Ofte (30–79 %) | I 1 tilstand |
| FZD2frizzled class receptor 2 | Ofte (30–79 %) | I 1 tilstand |
| H4C3H4 clustered histone 3 | Ofte (30–79 %) | I 1 tilstand |
| HBA1hemoglobin subunit alpha 1 | Ofte (30–79 %) | I 1 tilstand |
| HBA2hemoglobin subunit alpha 2 | Ofte (30–79 %) | I 1 tilstand |
| HCCSholocytochrome c synthase | Ofte (30–79 %) | I 1 tilstand |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Ofte (30–79 %) | I 1 tilstand |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Ofte (30–79 %) | I 1 tilstand |
| IBA57iron-sulfur cluster assembly factor IBA57 | Ofte (30–79 %) | I 1 tilstand |
| IGF2insulin like growth factor 2 | Ofte (30–79 %) | I 1 tilstand |
| KDM2Blysine demethylase 2B | Ofte (30–79 %) | I 1 tilstand |
| LMNAlamin A/C | Ofte (30–79 %) | I 2 tilstande |
| LTBP4latent transforming growth factor beta binding protein 4 | Ofte (30–79 %) | I 1 tilstand |
| MEG3maternally expressed 3 | Ofte (30–79 %) | I 2 tilstande |
| MESDmesoderm development LRP chaperone | Ofte (30–79 %) | I 1 tilstand |
| NAA80N-alpha-acetyltransferase 80, NatH catalytic subunit | Ofte (30–79 %) | I 1 tilstand |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Ofte (30–79 %) | I 1 tilstand |
| OTUD5OTU deubiquitinase 5 | Ofte (30–79 %) | I 1 tilstand |
| OTUD6BOTU deubiquitinase 6B | Ofte (30–79 %) | I 2 tilstande |
| PCNTpericentrin | Ofte (30–79 %) | I 2 tilstande |
| PMM2phosphomannomutase 2 | Ofte (30–79 %) | I 1 tilstand |
| POGZpogo transposable element derived with ZNF domain | Ofte (30–79 %) | I 1 tilstand |
| POLR1ARNA polymerase I subunit A | Ofte (30–79 %) | I 1 tilstand |
| PREPLprolyl endopeptidase like | Ofte (30–79 %) | I 1 tilstand |
| PRR12proline rich 12 | Ofte (30–79 %) | I 1 tilstand |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Ofte (30–79 %) | I 1 tilstand |
| PTH1Rparathyroid hormone 1 receptor | Ofte (30–79 %) | I 1 tilstand |
| RELREL proto-oncogene, NF-kB subunit | Ofte (30–79 %) | I 1 tilstand |
| ROR2ROR family WNT receptor 2 | Ofte (30–79 %) | I 1 tilstand |
| RTL1retrotransposon Gag like 1 | Ofte (30–79 %) | I 2 tilstande |
| RYR1ryanodine receptor 1 | Ofte (30–79 %) | I 1 tilstand |
| SETD2SET domain containing 2, histone lysine methyltransferase | Ofte (30–79 %) | I 1 tilstand |
| SLC29A3solute carrier family 29 member 3 | Ofte (30–79 %) | I 1 tilstand |
| SLC35B2solute carrier family 35 member B2 | Ofte (30–79 %) | I 1 tilstand |
| SLC3A1solute carrier family 3 member 1 | Ofte (30–79 %) | I 1 tilstand |
| SMC3structural maintenance of chromosomes 3 | Ofte (30–79 %) | I 1 tilstand |
| SPEGstriated muscle enriched protein kinase | Ofte (30–79 %) | I 2 tilstande |
| TGFB2transforming growth factor beta 2 | Ofte (30–79 %) | I 2 tilstande |
| TGFBR1transforming growth factor beta receptor 1 | Ofte (30–79 %) | I 2 tilstande |
| TGFBR2transforming growth factor beta receptor 2 | Ofte (30–79 %) | I 2 tilstande |
| THOC6THO complex subunit 6 | Ofte (30–79 %) | I 1 tilstand |
| TMEM70transmembrane protein 70 | Ofte (30–79 %) | I 1 tilstand |
| TSHZ3teashirt zinc finger homeobox 3 | Ofte (30–79 %) | I 1 tilstand |
| TTNtitin | Ofte (30–79 %) | I 1 tilstand |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Ofte (30–79 %) | I 1 tilstand |
| WBP4WW domain binding protein 4 | Ofte (30–79 %) | I 1 tilstand |
| WNT5AWnt family member 5A | Ofte (30–79 %) | I 2 tilstande |
| XPO1exportin 1 | Ofte (30–79 %) | I 1 tilstand |
| ZMPSTE24zinc metallopeptidase STE24 | Ofte (30–79 %) | I 1 tilstand |
| ACTA2actin alpha 2, smooth muscle | Nogle gange (5–29 %) | I 1 tilstand |
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ADAMTSL2ADAMTS like 2 | Nogle gange (5–29 %) | I 1 tilstand |
| AFG2AAAA ATPase AFG2A | Nogle gange (5–29 %) | I 1 tilstand |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| AMER1APC membrane recruitment protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ARL6ARF like GTPase 6 | Nogle gange (5–29 %) | I 1 tilstand |
| ASXL1ASXL transcriptional regulator 1 | Nogle gange (5–29 %) | I 2 tilstande |
| ASXL3ASXL transcriptional regulator 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ATG7autophagy related 7 | Nogle gange (5–29 %) | I 1 tilstand |
| ATXN7L3ataxin 7 like 3 | Nogle gange (5–29 %) | I 1 tilstand |
| AUTS2activator of transcription and developmental regulator AUTS2 | Nogle gange (5–29 %) | I 1 tilstand |
| BBIP1BBSome interacting protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS1Bardet-Biedl syndrome 1 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS10Bardet-Biedl syndrome 10 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS12Bardet-Biedl syndrome 12 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS2Bardet-Biedl syndrome 2 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS4Bardet-Biedl syndrome 4 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS5Bardet-Biedl syndrome 5 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS7Bardet-Biedl syndrome 7 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS9Bardet-Biedl syndrome 9 | Nogle gange (5–29 %) | I 1 tilstand |
| CA2carbonic anhydrase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CARS1cysteinyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CCBE1collagen and calcium binding EGF domains 1 | Nogle gange (5–29 %) | I 2 tilstande |
| CEP19centrosomal protein 19 | Nogle gange (5–29 %) | I 1 tilstand |
| CEP290centrosomal protein 290 | Nogle gange (5–29 %) | I 1 tilstand |
| CFAP418cilia and flagella associated protein 418 | Nogle gange (5–29 %) | I 1 tilstand |
| CHD8chromodomain helicase DNA binding protein 8 | Nogle gange (5–29 %) | I 1 tilstand |
| COG5component of oligomeric golgi complex 5 | Nogle gange (5–29 %) | I 1 tilstand |
| COG6component of oligomeric golgi complex 6 | Nogle gange (5–29 %) | I 1 tilstand |
| CTBP1C-terminal binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CTNNB1catenin beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DBR1debranching RNA lariats 1 | Nogle gange (5–29 %) | I 2 tilstande |
| DDB1damage specific DNA binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DOT1LDOT1 like histone lysine methyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| DPYDdihydropyrimidine dehydrogenase | Nogle gange (5–29 %) | I 1 tilstand |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Nogle gange (5–29 %) | I 1 tilstand |
| ELNelastin | Nogle gange (5–29 %) | I 1 tilstand |
| EMILIN1elastin microfibril interfacer 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Nogle gange (5–29 %) | I 1 tilstand |
| EXOC7exocyst complex component 7 | Nogle gange (5–29 %) | I 1 tilstand |
| EYA1EYA transcriptional coactivator and phosphatase 1 | Nogle gange (5–29 %) | I 2 tilstande |
| FANCBFA complementation group B | Nogle gange (5–29 %) | I 1 tilstand |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| FAT4FAT atypical cadherin 4 | Nogle gange (5–29 %) | I 1 tilstand |
| FBXO11F-box protein 11 | Nogle gange (5–29 %) | I 1 tilstand |
| FOXE3forkhead box E3 | Nogle gange (5–29 %) | I 1 tilstand |
| FRA10AC1FRA10A associated CGG repeat 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FRMPD4FERM and PDZ domain containing 4 | Nogle gange (5–29 %) | I 1 tilstand |
| FRYLFRY like transcription coactivator | Nogle gange (5–29 %) | I 1 tilstand |
| GABRA3gamma-aminobutyric acid type A receptor subunit alpha3 | Nogle gange (5–29 %) | I 1 tilstand |
| GLDNgliomedin | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2E2general transcription factor IIE subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2H5general transcription factor IIH subunit 5 | Nogle gange (5–29 %) | I 1 tilstand |
| H4C5H4 clustered histone 5 | Nogle gange (5–29 %) | I 1 tilstand |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Nogle gange (5–29 %) | I 1 tilstand |
| HEY2hes related family bHLH transcription factor with YRPW motif 2 | Nogle gange (5–29 %) | I 1 tilstand |
| HIVEP2HIVEP zinc finger 2 | Nogle gange (5–29 %) | I 1 tilstand |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Nogle gange (5–29 %) | I 1 tilstand |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Nogle gange (5–29 %) | I 1 tilstand |
| IFT172intraflagellar transport 172 | Nogle gange (5–29 %) | I 1 tilstand |
| IFT27intraflagellar transport 27 | Nogle gange (5–29 %) | I 1 tilstand |
| IFT74intraflagellar transport 74 | Nogle gange (5–29 %) | I 1 tilstand |
| JARID2jumonji and AT-rich interaction domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| KIF26Akinesin family member 26A | Nogle gange (5–29 %) | I 1 tilstand |
| KMT2Blysine methyltransferase 2B | Nogle gange (5–29 %) | I 1 tilstand |
| LOXlysyl oxidase | Nogle gange (5–29 %) | I 1 tilstand |
| LZTFL1leucine zipper transcription factor like 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MADDMAP kinase activating death domain | Nogle gange (5–29 %) | I 1 tilstand |
| MAMLD1mastermind like domain containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MAT2Amethionine adenosyltransferase 2A | Nogle gange (5–29 %) | I 1 tilstand |
| MED25mediator complex subunit 25 | Nogle gange (5–29 %) | I 2 tilstande |
| MEGF8multiple EGF like domains 8 | Nogle gange (5–29 %) | I 1 tilstand |
| MFAP5microfibril associated protein 5 | Nogle gange (5–29 %) | I 1 tilstand |
| MIA3MIA SH3 domain ER export factor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| MKKSMKKS centrosomal shuttling protein | Nogle gange (5–29 %) | I 1 tilstand |
| MKS1MKS transition zone complex subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MPLKIPM-phase specific PLK1 interacting protein | Nogle gange (5–29 %) | I 2 tilstande |
| MSL2MSL complex subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MSL3MSL complex subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| MTM1myotubularin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MYH11myosin heavy chain 11 | Nogle gange (5–29 %) | I 1 tilstand |
| MYL11myosin light chain 11 | Nogle gange (5–29 %) | I 1 tilstand |
| MYLKmyosin light chain kinase | Nogle gange (5–29 %) | I 1 tilstand |
| NARS1asparaginyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NPHP1nephrocystin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ODC1ornithine decarboxylase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PDGFRBplatelet derived growth factor receptor beta | Nogle gange (5–29 %) | I 1 tilstand |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Nogle gange (5–29 %) | I 1 tilstand |
| PRKG1protein kinase cGMP-dependent 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PRMT7protein arginine methyltransferase 7 | Nogle gange (5–29 %) | I 2 tilstande |
| RAB34RAB34, member RAS oncogene family | Nogle gange (5–29 %) | I 1 tilstand |
| RAP1BRAP1B, member of RAS oncogene family | Nogle gange (5–29 %) | I 1 tilstand |
| RNF113Aring finger protein 113A | Nogle gange (5–29 %) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RSPO2R-spondin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RTTNrotatin | Nogle gange (5–29 %) | I 1 tilstand |
| SCAPERS-phase cyclin A associated protein in the ER | Nogle gange (5–29 %) | I 1 tilstand |
| SCLT1sodium channel and clathrin linker 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Nogle gange (5–29 %) | I 1 tilstand |
| SEC61A1SEC61 translocon subunit alpha 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SETBP1SET binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SGSM3small G protein signaling modulator 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SIM1SIM bHLH transcription factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SIX1SIX homeobox 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SIX5SIX homeobox 5 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC4A10solute carrier family 4 member 10 | Nogle gange (5–29 %) | I 1 tilstand |
| SMAD2SMAD family member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SMAD3SMAD family member 3 | Nogle gange (5–29 %) | I 3 tilstande |
| SMAD4SMAD family member 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Nogle gange (5–29 %) | I 1 tilstand |
| SPENspen family transcriptional repressor | Nogle gange (5–29 %) | I 1 tilstand |
| TARS1threonyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TBCBtubulin folding cofactor B | Nogle gange (5–29 %) | I 1 tilstand |
| THSD4thrombospondin type 1 domain containing 4 | Nogle gange (5–29 %) | I 1 tilstand |
| TRIM32tripartite motif containing 32 | Nogle gange (5–29 %) | I 1 tilstand |
| TRIOtrio Rho guanine nucleotide exchange factor | Nogle gange (5–29 %) | I 1 tilstand |
| TRIP11thyroid hormone receptor interactor 11 | Nogle gange (5–29 %) | I 1 tilstand |
| TTC8tetratricopeptide repeat domain 8 | Nogle gange (5–29 %) | I 1 tilstand |
| WBP11WW domain binding protein 11 | Nogle gange (5–29 %) | I 1 tilstand |
| WDPCPWD repeat containing planar cell polarity effector | Nogle gange (5–29 %) | I 1 tilstand |
| WDR11WD repeat domain 11 | Nogle gange (5–29 %) | I 1 tilstand |
| WDR83OSWD repeat domain 83 opposite strand | Nogle gange (5–29 %) | I 1 tilstand |
| WSB2WD repeat and SOCS box containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ZFXzinc finger protein X-linked | Nogle gange (5–29 %) | I 1 tilstand |
| ZNF699zinc finger protein 699 | Nogle gange (5–29 %) | I 1 tilstand |
| FOXF1forkhead box F1 | Sjældent (1–4%) | I 1 tilstand |
| ACTA1actin alpha 1, skeletal muscle | Ikke registreret | I 1 tilstand |
| ARCN1archain 1 coat protein complex I subunit delta | Ikke registreret | I 1 tilstand |
| ASXL2ASXL transcriptional regulator 2 | Ikke registreret | I 1 tilstand |
| ATP6V1AATPase H+ transporting V1 subunit A | Ikke registreret | I 1 tilstand |
| BMP4bone morphogenetic protein 4 | Ikke registreret | I 1 tilstand |
| CEP135centrosomal protein 135 | Ikke registreret | I 1 tilstand |
| CEP152centrosomal protein 152 | Ikke registreret | I 1 tilstand |
| COL3A1collagen type III alpha 1 chain | Ikke registreret | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Ikke registreret | I 1 tilstand |
| CRLF1cytokine receptor like factor 1 | Ikke registreret | I 1 tilstand |
| CRPPACDP-L-ribitol pyrophosphorylase A | Ikke registreret | I 1 tilstand |
| DGCR2DiGeorge syndrome critical region gene 2 | Ikke registreret | I 1 tilstand |
| DGCR6DiGeorge syndrome critical region gene 6 | Ikke registreret | I 1 tilstand |
| DGCR8DGCR8 microprocessor complex subunit | Ikke registreret | I 1 tilstand |
| ESS2ess-2 spliceosome associated protein | Ikke registreret | I 1 tilstand |
| GBA1glucosylceramidase beta 1 | Ikke registreret | I 1 tilstand |
| GLE1GLE1 RNA export mediator | Ikke registreret | I 1 tilstand |
| HDAC8histone deacetylase 8 | Ikke registreret | I 1 tilstand |
| IGF1Rinsulin like growth factor 1 receptor | Ikke registreret | I 1 tilstand |
| ITGA8integrin subunit alpha 8 | Ikke registreret | I 1 tilstand |
| MAGEL2MAGE family member L2 | Ikke registreret | I 1 tilstand |
| MBD5methyl-CpG binding domain protein 5 | Ikke registreret | I 1 tilstand |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Ikke registreret | I 1 tilstand |
| MRPS22mitochondrial ribosomal protein S22 | Ikke registreret | I 1 tilstand |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Ikke registreret | I 1 tilstand |
| PUS7pseudouridine synthase 7 | Ikke registreret | I 1 tilstand |
| RARBretinoic acid receptor beta | Ikke registreret | I 1 tilstand |
| RBBP8RB binding protein 8, endonuclease | Ikke registreret | I 1 tilstand |
| RPL5ribosomal protein L5 | Ikke registreret | I 1 tilstand |
| RPS19ribosomal protein S19 | Ikke registreret | I 1 tilstand |
| SF3B4splicing factor 3b subunit 4 | Ikke registreret | I 1 tilstand |
| SLC25A24solute carrier family 25 member 24 | Ikke registreret | I 1 tilstand |
| SLC6A9solute carrier family 6 member 9 | Ikke registreret | I 1 tilstand |
| SMOC1SPARC related modular calcium binding 1 | Ikke registreret | I 1 tilstand |
| SRCAPSnf2 related CREBBP activator protein | Ikke registreret | I 1 tilstand |
| TBX1T-box transcription factor 1 | Ikke registreret | I 1 tilstand |
| TNPO2transportin 2 | Ikke registreret | I 1 tilstand |
| TPM2tropomyosin 2 | Ikke registreret | I 1 tilstand |
| WDR35WD repeat domain 35 | Ikke registreret | I 1 tilstand |
| WNK3WNK lysine deficient protein kinase 3 | Ikke registreret | I 1 tilstand |
| ZBTB24zinc finger and BTB domain containing 24 | Ikke registreret | I 1 tilstand |
| ZC4H2zinc finger C4H2-type containing | Ikke registreret | I 1 tilstand |
| ZNHIT3zinc finger HIT-type containing 3 | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
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Bredere træk
Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger