Egenskap
Receding chin
Klinisk navn: Retrognathia
An abnormality in which the mandible is mislocalised posteriorly.
Sammendrag
- Også kalt
- 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
ReferansegenomGRCh38hg38
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Endringer i disse genene forårsaker sjeldne tilstander der Receding chin forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ALG9ALG9 alpha-1,2-mannosyltransferase | Alltid | I 1 tilstand |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Alltid | I 1 tilstand |
| ARID2AT-rich interaction domain 2 | Alltid | I 1 tilstand |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Alltid | I 1 tilstand |
| ASPHaspartate beta-hydroxylase | Alltid | I 1 tilstand |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Alltid | I 1 tilstand |
| C1GALT1C1C1GALT1 specific chaperone 1 | Alltid | I 1 tilstand |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Alltid | I 1 tilstand |
| CIROZciliated left-right organizer protein containing ZP-N domains | Alltid | I 1 tilstand |
| COG7component of oligomeric golgi complex 7 | Alltid | I 2 tilstander |
| CPAPcentrosome assembly and centriole elongation protein | Alltid | I 1 tilstand |
| DHX9DExH-box helicase 9 | Alltid | I 1 tilstand |
| EEDembryonic ectoderm development | Alltid | I 1 tilstand |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Alltid | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Alltid | I 2 tilstander |
| ERFETS2 repressor factor | Alltid | I 1 tilstand |
| EXOSC1exosome component 1 | Alltid | I 1 tilstand |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Alltid | I 2 tilstander |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Alltid | I 1 tilstand |
| FBN1fibrillin 1 | Alltid | I 4 tilstander |
| FLNAfilamin A | Alltid | I 1 tilstand |
| FTOFTO alpha-ketoglutarate dependent dioxygenase | Alltid | I 1 tilstand |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Alltid | I 1 tilstand |
| IGBP1immunoglobulin binding protein 1 | Alltid | I 2 tilstander |
| INTS11integrator complex subunit 11 | Alltid | I 1 tilstand |
| INTUinturned planar cell polarity protein | Alltid | I 1 tilstand |
| JKAMPJNK1/MAPK8 associated membrane protein | Alltid | I 1 tilstand |
| KDM6Alysine demethylase 6A | Alltid | I 1 tilstand |
| KIF15kinesin family member 15 | Alltid | I 1 tilstand |
| KLHL20kelch like family member 20 | Alltid | I 1 tilstand |
| KMT2Dlysine methyltransferase 2D | Alltid | I 1 tilstand |
| KPTNkaptin, actin binding protein | Alltid | I 1 tilstand |
| LBRlamin B receptor | Alltid | I 1 tilstand |
| LGI4leucine rich repeat LGI family member 4 | Alltid | I 1 tilstand |
| MAPKAPK5MAPK activated protein kinase 5 | Alltid | I 1 tilstand |
| MED16mediator complex subunit 16 | Alltid | I 1 tilstand |
| MOGSmannosyl-oligosaccharide glucosidase | Alltid | I 2 tilstander |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Alltid | I 1 tilstand |
| MYMKmyomaker, myoblast fusion factor | Alltid | I 1 tilstand |
| NAV3neuron navigator 3 | Alltid | I 1 tilstand |
Vis 305 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| NBNnibrin | Alltid | I 2 tilstander |
| NUDT2nudix hydrolase 2 | Alltid | I 1 tilstand |
| NUP188nucleoporin 188 | Alltid | I 1 tilstand |
| NUP88nucleoporin 88 | Alltid | I 1 tilstand |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Alltid | I 1 tilstand |
| PUF60poly(U) binding splicing factor 60 | Alltid | I 1 tilstand |
| RAP1GDS1Rap1 GTPase-GDP dissociation stimulator 1 | Alltid | I 1 tilstand |
| RMP64ribonuclease MRP subunit p64 | Alltid | I 1 tilstand |
| RPL17ribosomal protein L17 | Alltid | I 1 tilstand |
| RSRC1arginine and serine rich coiled-coil 1 | Alltid | I 1 tilstand |
| SCNM1sodium channel modifier 1 | Alltid | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Alltid | I 1 tilstand |
| TAF4TATA-box binding protein associated factor 4 | Alltid | I 1 tilstand |
| TGFB3transforming growth factor beta 3 | Alltid | I 2 tilstander |
| TMEM107transmembrane protein 107 | Alltid | I 1 tilstand |
| TXNDC15thioredoxin domain containing 15 | Alltid | I 1 tilstand |
| UBA2ubiquitin like modifier activating enzyme 2 | Alltid | I 1 tilstand |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Alltid | I 1 tilstand |
| ACTBactin beta | Svært ofte (80–99 %) | I 2 tilstander |
| ACTG1actin gamma 1 | Svært ofte (80–99 %) | I 2 tilstander |
| CDC45cell division cycle 45 | Svært ofte (80–99 %) | I 1 tilstand |
| CDC6cell division cycle 6 | Svært ofte (80–99 %) | I 1 tilstand |
| CDT1chromatin licensing and DNA replication factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| DHCR2424-dehydrocholesterol reductase | Svært ofte (80–99 %) | I 1 tilstand |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Svært ofte (80–99 %) | I 1 tilstand |
| EMC1ER membrane protein complex subunit 1 | Svært ofte (80–99 %) | I 2 tilstander |
| FAM20CFAM20C golgi associated secretory pathway kinase | Svært ofte (80–99 %) | I 1 tilstand |
| FOXE1forkhead box E1 | Svært ofte (80–99 %) | I 1 tilstand |
| GMNNgeminin DNA replication inhibitor | Svært ofte (80–99 %) | I 1 tilstand |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Svært ofte (80–99 %) | I 1 tilstand |
| HYMAIhydatidiform mole associated and imprinted | Svært ofte (80–99 %) | I 1 tilstand |
| IPO8importin 8 | Svært ofte (80–99 %) | I 1 tilstand |
| KAT6Blysine acetyltransferase 6B | Svært ofte (80–99 %) | I 1 tilstand |
| KIF7kinesin family member 7 | Svært ofte (80–99 %) | I 1 tilstand |
| NFIXnuclear factor I X | Svært ofte (80–99 %) | I 2 tilstander |
| NSD1nuclear receptor binding SET domain protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| ORC1origin recognition complex subunit 1 | Svært ofte (80–99 %) | I 1 tilstand |
| ORC4origin recognition complex subunit 4 | Svært ofte (80–99 %) | I 1 tilstand |
| ORC6origin recognition complex subunit 6 | Svært ofte (80–99 %) | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Svært ofte (80–99 %) | I 1 tilstand |
| PLAGL1PLAG1 like zinc finger 1 | Svært ofte (80–99 %) | I 1 tilstand |
| POLA1DNA polymerase alpha 1, catalytic subunit | Svært ofte (80–99 %) | I 2 tilstander |
| POLR1BRNA polymerase I subunit B | Svært ofte (80–99 %) | I 1 tilstand |
| POLR1CRNA polymerase I and III subunit C | Svært ofte (80–99 %) | I 1 tilstand |
| POLR1DRNA polymerase I and III subunit D | Svært ofte (80–99 %) | I 2 tilstander |
| POLR3ARNA polymerase III subunit A | Svært ofte (80–99 %) | I 1 tilstand |
| RNU4ATACRNA, U4atac small nuclear | Svært ofte (80–99 %) | I 1 tilstand |
| SKISKI proto-oncogene | Svært ofte (80–99 %) | I 1 tilstand |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Svært ofte (80–99 %) | I 1 tilstand |
| TCOF1treacle ribosome biogenesis factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| TCTN3tectonic family member 3 | Svært ofte (80–99 %) | I 2 tilstander |
| UBE3Bubiquitin protein ligase E3B | Svært ofte (80–99 %) | I 1 tilstand |
| AARS1alanyl-tRNA synthetase 1 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| DSTYKdual serine/threonine and tyrosine protein kinase | Ofte (30–79 %) | I 1 tilstand |
| DVL1dishevelled segment polarity protein 1 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| EP300EP300 lysine acetyltransferase | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| LTBP4latent transforming growth factor beta binding protein 4 | Ofte (30–79 %) | I 1 tilstand |
| MEG3maternally expressed 3 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| PCNTpericentrin | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| TGFB2transforming growth factor beta 2 | Ofte (30–79 %) | I 2 tilstander |
| TGFBR1transforming growth factor beta receptor 1 | Ofte (30–79 %) | I 2 tilstander |
| TGFBR2transforming growth factor beta receptor 2 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| XPO1exportin 1 | Ofte (30–79 %) | I 1 tilstand |
| ZMPSTE24zinc metallopeptidase STE24 | Ofte (30–79 %) | I 1 tilstand |
| ACTA2actin alpha 2, smooth muscle | Noen ganger (5–29 %) | I 1 tilstand |
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Noen ganger (5–29 %) | I 1 tilstand |
| ADAMTSL2ADAMTS like 2 | Noen ganger (5–29 %) | I 1 tilstand |
| AFG2AAAA ATPase AFG2A | Noen ganger (5–29 %) | I 1 tilstand |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| AMER1APC membrane recruitment protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ARL6ARF like GTPase 6 | Noen ganger (5–29 %) | I 1 tilstand |
| ASXL1ASXL transcriptional regulator 1 | Noen ganger (5–29 %) | I 2 tilstander |
| ASXL3ASXL transcriptional regulator 3 | Noen ganger (5–29 %) | I 1 tilstand |
| ATG7autophagy related 7 | Noen ganger (5–29 %) | I 1 tilstand |
| ATXN7L3ataxin 7 like 3 | Noen ganger (5–29 %) | I 1 tilstand |
| AUTS2activator of transcription and developmental regulator AUTS2 | Noen ganger (5–29 %) | I 1 tilstand |
| BBIP1BBSome interacting protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS1Bardet-Biedl syndrome 1 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS10Bardet-Biedl syndrome 10 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS12Bardet-Biedl syndrome 12 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS2Bardet-Biedl syndrome 2 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS4Bardet-Biedl syndrome 4 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS5Bardet-Biedl syndrome 5 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS7Bardet-Biedl syndrome 7 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS9Bardet-Biedl syndrome 9 | Noen ganger (5–29 %) | I 1 tilstand |
| CA2carbonic anhydrase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CARS1cysteinyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CCBE1collagen and calcium binding EGF domains 1 | Noen ganger (5–29 %) | I 2 tilstander |
| CEP19centrosomal protein 19 | Noen ganger (5–29 %) | I 1 tilstand |
| CEP290centrosomal protein 290 | Noen ganger (5–29 %) | I 1 tilstand |
| CFAP418cilia and flagella associated protein 418 | Noen ganger (5–29 %) | I 1 tilstand |
| CHD8chromodomain helicase DNA binding protein 8 | Noen ganger (5–29 %) | I 1 tilstand |
| COG5component of oligomeric golgi complex 5 | Noen ganger (5–29 %) | I 1 tilstand |
| COG6component of oligomeric golgi complex 6 | Noen ganger (5–29 %) | I 1 tilstand |
| CTBP1C-terminal binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CTNNB1catenin beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DBR1debranching RNA lariats 1 | Noen ganger (5–29 %) | I 2 tilstander |
| DDB1damage specific DNA binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DOT1LDOT1 like histone lysine methyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| DPYDdihydropyrimidine dehydrogenase | Noen ganger (5–29 %) | I 1 tilstand |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Noen ganger (5–29 %) | I 1 tilstand |
| ELNelastin | Noen ganger (5–29 %) | I 1 tilstand |
| EMILIN1elastin microfibril interfacer 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Noen ganger (5–29 %) | I 1 tilstand |
| EXOC7exocyst complex component 7 | Noen ganger (5–29 %) | I 1 tilstand |
| EYA1EYA transcriptional coactivator and phosphatase 1 | Noen ganger (5–29 %) | I 2 tilstander |
| FANCBFA complementation group B | Noen ganger (5–29 %) | I 1 tilstand |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| FAT4FAT atypical cadherin 4 | Noen ganger (5–29 %) | I 1 tilstand |
| FBXO11F-box protein 11 | Noen ganger (5–29 %) | I 1 tilstand |
| FOXE3forkhead box E3 | Noen ganger (5–29 %) | I 1 tilstand |
| FRA10AC1FRA10A associated CGG repeat 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FRMPD4FERM and PDZ domain containing 4 | Noen ganger (5–29 %) | I 1 tilstand |
| FRYLFRY like transcription coactivator | Noen ganger (5–29 %) | I 1 tilstand |
| GABRA3gamma-aminobutyric acid type A receptor subunit alpha3 | Noen ganger (5–29 %) | I 1 tilstand |
| GLDNgliomedin | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2E2general transcription factor IIE subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2H5general transcription factor IIH subunit 5 | Noen ganger (5–29 %) | I 1 tilstand |
| H4C5H4 clustered histone 5 | Noen ganger (5–29 %) | I 1 tilstand |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Noen ganger (5–29 %) | I 1 tilstand |
| HEY2hes related family bHLH transcription factor with YRPW motif 2 | Noen ganger (5–29 %) | I 1 tilstand |
| HIVEP2HIVEP zinc finger 2 | Noen ganger (5–29 %) | I 1 tilstand |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Noen ganger (5–29 %) | I 1 tilstand |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Noen ganger (5–29 %) | I 1 tilstand |
| IFT172intraflagellar transport 172 | Noen ganger (5–29 %) | I 1 tilstand |
| IFT27intraflagellar transport 27 | Noen ganger (5–29 %) | I 1 tilstand |
| IFT74intraflagellar transport 74 | Noen ganger (5–29 %) | I 1 tilstand |
| JARID2jumonji and AT-rich interaction domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KIF26Akinesin family member 26A | Noen ganger (5–29 %) | I 1 tilstand |
| KMT2Blysine methyltransferase 2B | Noen ganger (5–29 %) | I 1 tilstand |
| LOXlysyl oxidase | Noen ganger (5–29 %) | I 1 tilstand |
| LZTFL1leucine zipper transcription factor like 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MADDMAP kinase activating death domain | Noen ganger (5–29 %) | I 1 tilstand |
| MAMLD1mastermind like domain containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MAT2Amethionine adenosyltransferase 2A | Noen ganger (5–29 %) | I 1 tilstand |
| MED25mediator complex subunit 25 | Noen ganger (5–29 %) | I 2 tilstander |
| MEGF8multiple EGF like domains 8 | Noen ganger (5–29 %) | I 1 tilstand |
| MFAP5microfibril associated protein 5 | Noen ganger (5–29 %) | I 1 tilstand |
| MIA3MIA SH3 domain ER export factor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| MKKSMKKS centrosomal shuttling protein | Noen ganger (5–29 %) | I 1 tilstand |
| MKS1MKS transition zone complex subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MPLKIPM-phase specific PLK1 interacting protein | Noen ganger (5–29 %) | I 2 tilstander |
| MSL2MSL complex subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MSL3MSL complex subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| MTM1myotubularin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MYH11myosin heavy chain 11 | Noen ganger (5–29 %) | I 1 tilstand |
| MYL11myosin light chain 11 | Noen ganger (5–29 %) | I 1 tilstand |
| MYLKmyosin light chain kinase | Noen ganger (5–29 %) | I 1 tilstand |
| NARS1asparaginyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NPHP1nephrocystin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ODC1ornithine decarboxylase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PDGFRBplatelet derived growth factor receptor beta | Noen ganger (5–29 %) | I 1 tilstand |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Noen ganger (5–29 %) | I 1 tilstand |
| PRKG1protein kinase cGMP-dependent 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PRMT7protein arginine methyltransferase 7 | Noen ganger (5–29 %) | I 2 tilstander |
| RAB34RAB34, member RAS oncogene family | Noen ganger (5–29 %) | I 1 tilstand |
| RAP1BRAP1B, member of RAS oncogene family | Noen ganger (5–29 %) | I 1 tilstand |
| RNF113Aring finger protein 113A | Noen ganger (5–29 %) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RSPO2R-spondin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RTTNrotatin | Noen ganger (5–29 %) | I 1 tilstand |
| SCAPERS-phase cyclin A associated protein in the ER | Noen ganger (5–29 %) | I 1 tilstand |
| SCLT1sodium channel and clathrin linker 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Noen ganger (5–29 %) | I 1 tilstand |
| SEC61A1SEC61 translocon subunit alpha 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SETBP1SET binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SGSM3small G protein signaling modulator 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SIM1SIM bHLH transcription factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SIX1SIX homeobox 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SIX5SIX homeobox 5 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC4A10solute carrier family 4 member 10 | Noen ganger (5–29 %) | I 1 tilstand |
| SMAD2SMAD family member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SMAD3SMAD family member 3 | Noen ganger (5–29 %) | I 3 tilstander |
| SMAD4SMAD family member 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Noen ganger (5–29 %) | I 1 tilstand |
| SPENspen family transcriptional repressor | Noen ganger (5–29 %) | I 1 tilstand |
| TARS1threonyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TBCBtubulin folding cofactor B | Noen ganger (5–29 %) | I 1 tilstand |
| THSD4thrombospondin type 1 domain containing 4 | Noen ganger (5–29 %) | I 1 tilstand |
| TRIM32tripartite motif containing 32 | Noen ganger (5–29 %) | I 1 tilstand |
| TRIOtrio Rho guanine nucleotide exchange factor | Noen ganger (5–29 %) | I 1 tilstand |
| TRIP11thyroid hormone receptor interactor 11 | Noen ganger (5–29 %) | I 1 tilstand |
| TTC8tetratricopeptide repeat domain 8 | Noen ganger (5–29 %) | I 1 tilstand |
| WBP11WW domain binding protein 11 | Noen ganger (5–29 %) | I 1 tilstand |
| WDPCPWD repeat containing planar cell polarity effector | Noen ganger (5–29 %) | I 1 tilstand |
| WDR11WD repeat domain 11 | Noen ganger (5–29 %) | I 1 tilstand |
| WDR83OSWD repeat domain 83 opposite strand | Noen ganger (5–29 %) | I 1 tilstand |
| WSB2WD repeat and SOCS box containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ZFXzinc finger protein X-linked | Noen ganger (5–29 %) | I 1 tilstand |
| ZNF699zinc finger protein 699 | Noen ganger (5–29 %) | I 1 tilstand |
| FOXF1forkhead box F1 | Sjelden (1–4%) | I 1 tilstand |
| ACTA1actin alpha 1, skeletal muscle | Ikke registrert | I 1 tilstand |
| ARCN1archain 1 coat protein complex I subunit delta | Ikke registrert | I 1 tilstand |
| ASXL2ASXL transcriptional regulator 2 | Ikke registrert | I 1 tilstand |
| ATP6V1AATPase H+ transporting V1 subunit A | Ikke registrert | I 1 tilstand |
| BMP4bone morphogenetic protein 4 | Ikke registrert | I 1 tilstand |
| CEP135centrosomal protein 135 | Ikke registrert | I 1 tilstand |
| CEP152centrosomal protein 152 | Ikke registrert | I 1 tilstand |
| COL3A1collagen type III alpha 1 chain | Ikke registrert | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Ikke registrert | I 1 tilstand |
| CRLF1cytokine receptor like factor 1 | Ikke registrert | I 1 tilstand |
| CRPPACDP-L-ribitol pyrophosphorylase A | Ikke registrert | I 1 tilstand |
| DGCR2DiGeorge syndrome critical region gene 2 | Ikke registrert | I 1 tilstand |
| DGCR6DiGeorge syndrome critical region gene 6 | Ikke registrert | I 1 tilstand |
| DGCR8DGCR8 microprocessor complex subunit | Ikke registrert | I 1 tilstand |
| ESS2ess-2 spliceosome associated protein | Ikke registrert | I 1 tilstand |
| GBA1glucosylceramidase beta 1 | Ikke registrert | I 1 tilstand |
| GLE1GLE1 RNA export mediator | Ikke registrert | I 1 tilstand |
| HDAC8histone deacetylase 8 | Ikke registrert | I 1 tilstand |
| IGF1Rinsulin like growth factor 1 receptor | Ikke registrert | I 1 tilstand |
| ITGA8integrin subunit alpha 8 | Ikke registrert | I 1 tilstand |
| MAGEL2MAGE family member L2 | Ikke registrert | I 1 tilstand |
| MBD5methyl-CpG binding domain protein 5 | Ikke registrert | I 1 tilstand |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Ikke registrert | I 1 tilstand |
| MRPS22mitochondrial ribosomal protein S22 | Ikke registrert | I 1 tilstand |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Ikke registrert | I 1 tilstand |
| PUS7pseudouridine synthase 7 | Ikke registrert | I 1 tilstand |
| RARBretinoic acid receptor beta | Ikke registrert | I 1 tilstand |
| RBBP8RB binding protein 8, endonuclease | Ikke registrert | I 1 tilstand |
| RPL5ribosomal protein L5 | Ikke registrert | I 1 tilstand |
| RPS19ribosomal protein S19 | Ikke registrert | I 1 tilstand |
| SF3B4splicing factor 3b subunit 4 | Ikke registrert | I 1 tilstand |
| SLC25A24solute carrier family 25 member 24 | Ikke registrert | I 1 tilstand |
| SLC6A9solute carrier family 6 member 9 | Ikke registrert | I 1 tilstand |
| SMOC1SPARC related modular calcium binding 1 | Ikke registrert | I 1 tilstand |
| SRCAPSnf2 related CREBBP activator protein | Ikke registrert | I 1 tilstand |
| TBX1T-box transcription factor 1 | Ikke registrert | I 1 tilstand |
| TNPO2transportin 2 | Ikke registrert | I 1 tilstand |
| TPM2tropomyosin 2 | Ikke registrert | I 1 tilstand |
| WDR35WD repeat domain 35 | Ikke registrert | I 1 tilstand |
| WNK3WNK lysine deficient protein kinase 3 | Ikke registrert | I 1 tilstand |
| ZBTB24zinc finger and BTB domain containing 24 | Ikke registrert | I 1 tilstand |
| ZC4H2zinc finger C4H2-type containing | Ikke registrert | I 1 tilstand |
| ZNHIT3zinc finger HIT-type containing 3 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Smalere egenskaper
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
Én test. En livstid med svar.
Fra 449 $Gratis frakt · Resultater på 6–8 uker