AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Požymis
Receding chin
Klinikinis pavadinimas: Retrognathia
An abnormality in which the mandible is mislocalised posteriorly.
Santrauka
- Taip pat vadinama
- 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
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Ši puslapis kaip duomenys
Norėdami perskaityti jį kaip JSON, pridėkite .json prie puslapio adreso arba nurodykite application/json.
library(jsonlite)
url <- "https://dantelabs.com/traits/retrognathia.json"
page <- fromJSON(url)
page$trait$nameReceding chinHP:0000278
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Vienu tyrimu sužinokite genus, susijusius su Receding chin, ir kitą jūsų genomo dalį.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test345 genų susiję su Receding chin
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Receding chin. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ALG9ALG9 alpha-1,2-mannosyltransferase | Visada | 1 ligoje |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Visada | 1 ligoje |
| ARID2AT-rich interaction domain 2 | Visada | 1 ligoje |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Visada | 1 ligoje |
| ASPHaspartate beta-hydroxylase | Visada | 1 ligoje |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Visada | 1 ligoje |
| C1GALT1C1C1GALT1 specific chaperone 1 | Visada | 1 ligoje |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Visada | 1 ligoje |
| CIROZciliated left-right organizer protein containing ZP-N domains | Visada | 1 ligoje |
| COG7component of oligomeric golgi complex 7 | Visada | 2 ligose |
| CPAPcentrosome assembly and centriole elongation protein | Visada | 1 ligoje |
| DHX9DExH-box helicase 9 | Visada | 1 ligoje |
| EEDembryonic ectoderm development | Visada | 1 ligoje |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Visada | 1 ligoje |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Visada | 2 ligose |
| ERFETS2 repressor factor | Visada | 1 ligoje |
| EXOSC1exosome component 1 | Visada | 1 ligoje |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Visada | 2 ligose |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Visada | 1 ligoje |
| FBN1fibrillin 1 | Visada | 4 ligose |
| FLNAfilamin A | Visada | 1 ligoje |
| FTOFTO alpha-ketoglutarate dependent dioxygenase | Visada | 1 ligoje |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Visada | 1 ligoje |
| IGBP1immunoglobulin binding protein 1 | Visada | 2 ligose |
| INTS11integrator complex subunit 11 | Visada | 1 ligoje |
| INTUinturned planar cell polarity protein | Visada | 1 ligoje |
| JKAMPJNK1/MAPK8 associated membrane protein | Visada | 1 ligoje |
| KDM6Alysine demethylase 6A | Visada | 1 ligoje |
| KIF15kinesin family member 15 | Visada | 1 ligoje |
| KLHL20kelch like family member 20 | Visada | 1 ligoje |
| KMT2Dlysine methyltransferase 2D | Visada | 1 ligoje |
| KPTNkaptin, actin binding protein | Visada | 1 ligoje |
| LBRlamin B receptor | Visada | 1 ligoje |
| LGI4leucine rich repeat LGI family member 4 | Visada | 1 ligoje |
| MAPKAPK5MAPK activated protein kinase 5 | Visada | 1 ligoje |
| MED16mediator complex subunit 16 | Visada | 1 ligoje |
| MOGSmannosyl-oligosaccharide glucosidase | Visada | 2 ligose |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Visada | 1 ligoje |
| MYMKmyomaker, myoblast fusion factor | Visada | 1 ligoje |
| NAV3neuron navigator 3 | Visada | 1 ligoje |
Rodyti dar 305 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| NBNnibrin | Visada | 2 ligose |
| NUDT2nudix hydrolase 2 | Visada | 1 ligoje |
| NUP188nucleoporin 188 | Visada | 1 ligoje |
| NUP88nucleoporin 88 | Visada | 1 ligoje |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Visada | 1 ligoje |
| PUF60poly(U) binding splicing factor 60 | Visada | 1 ligoje |
| RAP1GDS1Rap1 GTPase-GDP dissociation stimulator 1 | Visada | 1 ligoje |
| RMP64ribonuclease MRP subunit p64 | Visada | 1 ligoje |
| RPL17ribosomal protein L17 | Visada | 1 ligoje |
| RSRC1arginine and serine rich coiled-coil 1 | Visada | 1 ligoje |
| SCNM1sodium channel modifier 1 | Visada | 1 ligoje |
| SMC1Astructural maintenance of chromosomes 1A | Visada | 1 ligoje |
| TAF4TATA-box binding protein associated factor 4 | Visada | 1 ligoje |
| TGFB3transforming growth factor beta 3 | Visada | 2 ligose |
| TMEM107transmembrane protein 107 | Visada | 1 ligoje |
| TXNDC15thioredoxin domain containing 15 | Visada | 1 ligoje |
| UBA2ubiquitin like modifier activating enzyme 2 | Visada | 1 ligoje |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Visada | 1 ligoje |
| ACTBactin beta | Labai dažnai (80–99%) | 2 ligose |
| ACTG1actin gamma 1 | Labai dažnai (80–99%) | 2 ligose |
| CDC45cell division cycle 45 | Labai dažnai (80–99%) | 1 ligoje |
| CDC6cell division cycle 6 | Labai dažnai (80–99%) | 1 ligoje |
| CDT1chromatin licensing and DNA replication factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| DHCR2424-dehydrocholesterol reductase | Labai dažnai (80–99%) | 1 ligoje |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Labai dažnai (80–99%) | 1 ligoje |
| EMC1ER membrane protein complex subunit 1 | Labai dažnai (80–99%) | 2 ligose |
| FAM20CFAM20C golgi associated secretory pathway kinase | Labai dažnai (80–99%) | 1 ligoje |
| FOXE1forkhead box E1 | Labai dažnai (80–99%) | 1 ligoje |
| GMNNgeminin DNA replication inhibitor | Labai dažnai (80–99%) | 1 ligoje |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Labai dažnai (80–99%) | 1 ligoje |
| HYMAIhydatidiform mole associated and imprinted | Labai dažnai (80–99%) | 1 ligoje |
| IPO8importin 8 | Labai dažnai (80–99%) | 1 ligoje |
| KAT6Blysine acetyltransferase 6B | Labai dažnai (80–99%) | 1 ligoje |
| KIF7kinesin family member 7 | Labai dažnai (80–99%) | 1 ligoje |
| NFIXnuclear factor I X | Labai dažnai (80–99%) | 2 ligose |
| NSD1nuclear receptor binding SET domain protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| ORC1origin recognition complex subunit 1 | Labai dažnai (80–99%) | 1 ligoje |
| ORC4origin recognition complex subunit 4 | Labai dažnai (80–99%) | 1 ligoje |
| ORC6origin recognition complex subunit 6 | Labai dažnai (80–99%) | 1 ligoje |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Labai dažnai (80–99%) | 1 ligoje |
| PLAGL1PLAG1 like zinc finger 1 | Labai dažnai (80–99%) | 1 ligoje |
| POLA1DNA polymerase alpha 1, catalytic subunit | Labai dažnai (80–99%) | 2 ligose |
| POLR1BRNA polymerase I subunit B | Labai dažnai (80–99%) | 1 ligoje |
| POLR1CRNA polymerase I and III subunit C | Labai dažnai (80–99%) | 1 ligoje |
| POLR1DRNA polymerase I and III subunit D | Labai dažnai (80–99%) | 2 ligose |
| POLR3ARNA polymerase III subunit A | Labai dažnai (80–99%) | 1 ligoje |
| RNU4ATACRNA, U4atac small nuclear | Labai dažnai (80–99%) | 1 ligoje |
| SKISKI proto-oncogene | Labai dažnai (80–99%) | 1 ligoje |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Labai dažnai (80–99%) | 1 ligoje |
| TCOF1treacle ribosome biogenesis factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| TCTN3tectonic family member 3 | Labai dažnai (80–99%) | 2 ligose |
| UBE3Bubiquitin protein ligase E3B | Labai dažnai (80–99%) | 1 ligoje |
| AARS1alanyl-tRNA synthetase 1 | Dažnai (30–79%) | 2 ligose |
| ABAT4-aminobutyrate aminotransferase | Dažnai (30–79%) | 1 ligoje |
| ARID1BAT-rich interaction domain 1B | Dažnai (30–79%) | 1 ligoje |
| BCL11ABCL11 transcription factor A | Dažnai (30–79%) | 2 ligose |
| BIN1bridging integrator 1 | Dažnai (30–79%) | 1 ligoje |
| BLMBLM RecQ like helicase | Dažnai (30–79%) | 1 ligoje |
| BRCC3BRCA1/BRCA2-containing complex subunit 3 | Dažnai (30–79%) | 1 ligoje |
| CASKcalcium/calmodulin dependent serine protein kinase | Dažnai (30–79%) | 1 ligoje |
| CBLCbl proto-oncogene | Dažnai (30–79%) | 1 ligoje |
| CEP295centrosomal protein 295 | Dažnai (30–79%) | 1 ligoje |
| CNTNAP1contactin associated protein 1 | Dažnai (30–79%) | 1 ligoje |
| COL13A1collagen type XIII alpha 1 chain | Dažnai (30–79%) | 1 ligoje |
| COL1A1collagen type I alpha 1 chain | Dažnai (30–79%) | 1 ligoje |
| COL1A2collagen type I alpha 2 chain | Dažnai (30–79%) | 1 ligoje |
| COX7Bcytochrome c oxidase subunit 7B | Dažnai (30–79%) | 1 ligoje |
| CTU2cytosolic thiouridylase subunit 2 | Dažnai (30–79%) | 1 ligoje |
| DLK1delta like non-canonical Notch ligand 1 | Dažnai (30–79%) | 2 ligose |
| DSTYKdual serine/threonine and tyrosine protein kinase | Dažnai (30–79%) | 1 ligoje |
| DVL1dishevelled segment polarity protein 1 | Dažnai (30–79%) | 2 ligose |
| DVL3dishevelled segment polarity protein 3 | Dažnai (30–79%) | 1 ligoje |
| EDEM3ER degradation enhancing alpha-mannosidase like protein 3 | Dažnai (30–79%) | 1 ligoje |
| EDN1endothelin 1 | Dažnai (30–79%) | 1 ligoje |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Dažnai (30–79%) | 2 ligose |
| EP300EP300 lysine acetyltransferase | Dažnai (30–79%) | 2 ligose |
| EXOSC5exosome component 5 | Dažnai (30–79%) | 1 ligoje |
| FBXO31F-box protein 31 | Dažnai (30–79%) | 1 ligoje |
| FBXW11F-box and WD repeat domain containing 11 | Dažnai (30–79%) | 1 ligoje |
| FDFT1farnesyl-diphosphate farnesyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| FHL1four and a half LIM domains 1 | Dažnai (30–79%) | 1 ligoje |
| FOXP1forkhead box P1 | Dažnai (30–79%) | 2 ligose |
| FUT8fucosyltransferase 8 | Dažnai (30–79%) | 1 ligoje |
| FZD2frizzled class receptor 2 | Dažnai (30–79%) | 1 ligoje |
| H4C3H4 clustered histone 3 | Dažnai (30–79%) | 1 ligoje |
| HBA1hemoglobin subunit alpha 1 | Dažnai (30–79%) | 1 ligoje |
| HBA2hemoglobin subunit alpha 2 | Dažnai (30–79%) | 1 ligoje |
| HCCSholocytochrome c synthase | Dažnai (30–79%) | 1 ligoje |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Dažnai (30–79%) | 1 ligoje |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Dažnai (30–79%) | 1 ligoje |
| IBA57iron-sulfur cluster assembly factor IBA57 | Dažnai (30–79%) | 1 ligoje |
| IGF2insulin like growth factor 2 | Dažnai (30–79%) | 1 ligoje |
| KDM2Blysine demethylase 2B | Dažnai (30–79%) | 1 ligoje |
| LMNAlamin A/C | Dažnai (30–79%) | 2 ligose |
| LTBP4latent transforming growth factor beta binding protein 4 | Dažnai (30–79%) | 1 ligoje |
| MEG3maternally expressed 3 | Dažnai (30–79%) | 2 ligose |
| MESDmesoderm development LRP chaperone | Dažnai (30–79%) | 1 ligoje |
| NAA80N-alpha-acetyltransferase 80, NatH catalytic subunit | Dažnai (30–79%) | 1 ligoje |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Dažnai (30–79%) | 1 ligoje |
| OTUD5OTU deubiquitinase 5 | Dažnai (30–79%) | 1 ligoje |
| OTUD6BOTU deubiquitinase 6B | Dažnai (30–79%) | 2 ligose |
| PCNTpericentrin | Dažnai (30–79%) | 2 ligose |
| PMM2phosphomannomutase 2 | Dažnai (30–79%) | 1 ligoje |
| POGZpogo transposable element derived with ZNF domain | Dažnai (30–79%) | 1 ligoje |
| POLR1ARNA polymerase I subunit A | Dažnai (30–79%) | 1 ligoje |
| PREPLprolyl endopeptidase like | Dažnai (30–79%) | 1 ligoje |
| PRR12proline rich 12 | Dažnai (30–79%) | 1 ligoje |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Dažnai (30–79%) | 1 ligoje |
| PTH1Rparathyroid hormone 1 receptor | Dažnai (30–79%) | 1 ligoje |
| RELREL proto-oncogene, NF-kB subunit | Dažnai (30–79%) | 1 ligoje |
| ROR2ROR family WNT receptor 2 | Dažnai (30–79%) | 1 ligoje |
| RTL1retrotransposon Gag like 1 | Dažnai (30–79%) | 2 ligose |
| RYR1ryanodine receptor 1 | Dažnai (30–79%) | 1 ligoje |
| SETD2SET domain containing 2, histone lysine methyltransferase | Dažnai (30–79%) | 1 ligoje |
| SLC29A3solute carrier family 29 member 3 | Dažnai (30–79%) | 1 ligoje |
| SLC35B2solute carrier family 35 member B2 | Dažnai (30–79%) | 1 ligoje |
| SLC3A1solute carrier family 3 member 1 | Dažnai (30–79%) | 1 ligoje |
| SMC3structural maintenance of chromosomes 3 | Dažnai (30–79%) | 1 ligoje |
| SPEGstriated muscle enriched protein kinase | Dažnai (30–79%) | 2 ligose |
| TGFB2transforming growth factor beta 2 | Dažnai (30–79%) | 2 ligose |
| TGFBR1transforming growth factor beta receptor 1 | Dažnai (30–79%) | 2 ligose |
| TGFBR2transforming growth factor beta receptor 2 | Dažnai (30–79%) | 2 ligose |
| THOC6THO complex subunit 6 | Dažnai (30–79%) | 1 ligoje |
| TMEM70transmembrane protein 70 | Dažnai (30–79%) | 1 ligoje |
| TSHZ3teashirt zinc finger homeobox 3 | Dažnai (30–79%) | 1 ligoje |
| TTNtitin | Dažnai (30–79%) | 1 ligoje |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Dažnai (30–79%) | 1 ligoje |
| WBP4WW domain binding protein 4 | Dažnai (30–79%) | 1 ligoje |
| WNT5AWnt family member 5A | Dažnai (30–79%) | 2 ligose |
| XPO1exportin 1 | Dažnai (30–79%) | 1 ligoje |
| ZMPSTE24zinc metallopeptidase STE24 | Dažnai (30–79%) | 1 ligoje |
| ACTA2actin alpha 2, smooth muscle | Kartais (5–29%) | 1 ligoje |
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Kartais (5–29%) | 1 ligoje |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Kartais (5–29%) | 1 ligoje |
| ADAMTSL2ADAMTS like 2 | Kartais (5–29%) | 1 ligoje |
| AFG2AAAA ATPase AFG2A | Kartais (5–29%) | 1 ligoje |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Kartais (5–29%) | 1 ligoje |
| AMER1APC membrane recruitment protein 1 | Kartais (5–29%) | 1 ligoje |
| ARL6ARF like GTPase 6 | Kartais (5–29%) | 1 ligoje |
| ASXL1ASXL transcriptional regulator 1 | Kartais (5–29%) | 2 ligose |
| ASXL3ASXL transcriptional regulator 3 | Kartais (5–29%) | 1 ligoje |
| ATG7autophagy related 7 | Kartais (5–29%) | 1 ligoje |
| ATXN7L3ataxin 7 like 3 | Kartais (5–29%) | 1 ligoje |
| AUTS2activator of transcription and developmental regulator AUTS2 | Kartais (5–29%) | 1 ligoje |
| BBIP1BBSome interacting protein 1 | Kartais (5–29%) | 1 ligoje |
| BBS1Bardet-Biedl syndrome 1 | Kartais (5–29%) | 1 ligoje |
| BBS10Bardet-Biedl syndrome 10 | Kartais (5–29%) | 1 ligoje |
| BBS12Bardet-Biedl syndrome 12 | Kartais (5–29%) | 1 ligoje |
| BBS2Bardet-Biedl syndrome 2 | Kartais (5–29%) | 1 ligoje |
| BBS4Bardet-Biedl syndrome 4 | Kartais (5–29%) | 1 ligoje |
| BBS5Bardet-Biedl syndrome 5 | Kartais (5–29%) | 1 ligoje |
| BBS7Bardet-Biedl syndrome 7 | Kartais (5–29%) | 1 ligoje |
| BBS9Bardet-Biedl syndrome 9 | Kartais (5–29%) | 1 ligoje |
| CA2carbonic anhydrase 2 | Kartais (5–29%) | 1 ligoje |
| CARS1cysteinyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| CCBE1collagen and calcium binding EGF domains 1 | Kartais (5–29%) | 2 ligose |
| CEP19centrosomal protein 19 | Kartais (5–29%) | 1 ligoje |
| CEP290centrosomal protein 290 | Kartais (5–29%) | 1 ligoje |
| CFAP418cilia and flagella associated protein 418 | Kartais (5–29%) | 1 ligoje |
| CHD8chromodomain helicase DNA binding protein 8 | Kartais (5–29%) | 1 ligoje |
| COG5component of oligomeric golgi complex 5 | Kartais (5–29%) | 1 ligoje |
| COG6component of oligomeric golgi complex 6 | Kartais (5–29%) | 1 ligoje |
| CTBP1C-terminal binding protein 1 | Kartais (5–29%) | 1 ligoje |
| CTNNB1catenin beta 1 | Kartais (5–29%) | 1 ligoje |
| DBR1debranching RNA lariats 1 | Kartais (5–29%) | 2 ligose |
| DDB1damage specific DNA binding protein 1 | Kartais (5–29%) | 1 ligoje |
| DOT1LDOT1 like histone lysine methyltransferase | Kartais (5–29%) | 1 ligoje |
| DPYDdihydropyrimidine dehydrogenase | Kartais (5–29%) | 1 ligoje |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Kartais (5–29%) | 1 ligoje |
| ELNelastin | Kartais (5–29%) | 1 ligoje |
| EMILIN1elastin microfibril interfacer 1 | Kartais (5–29%) | 1 ligoje |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Kartais (5–29%) | 1 ligoje |
| EXOC7exocyst complex component 7 | Kartais (5–29%) | 1 ligoje |
| EYA1EYA transcriptional coactivator and phosphatase 1 | Kartais (5–29%) | 2 ligose |
| FANCBFA complementation group B | Kartais (5–29%) | 1 ligoje |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Kartais (5–29%) | 1 ligoje |
| FAT4FAT atypical cadherin 4 | Kartais (5–29%) | 1 ligoje |
| FBXO11F-box protein 11 | Kartais (5–29%) | 1 ligoje |
| FOXE3forkhead box E3 | Kartais (5–29%) | 1 ligoje |
| FRA10AC1FRA10A associated CGG repeat 1 | Kartais (5–29%) | 1 ligoje |
| FRMPD4FERM and PDZ domain containing 4 | Kartais (5–29%) | 1 ligoje |
| FRYLFRY like transcription coactivator | Kartais (5–29%) | 1 ligoje |
| GABRA3gamma-aminobutyric acid type A receptor subunit alpha3 | Kartais (5–29%) | 1 ligoje |
| GLDNgliomedin | Kartais (5–29%) | 1 ligoje |
| GTF2E2general transcription factor IIE subunit 2 | Kartais (5–29%) | 1 ligoje |
| GTF2H5general transcription factor IIH subunit 5 | Kartais (5–29%) | 1 ligoje |
| H4C5H4 clustered histone 5 | Kartais (5–29%) | 1 ligoje |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Kartais (5–29%) | 1 ligoje |
| HEY2hes related family bHLH transcription factor with YRPW motif 2 | Kartais (5–29%) | 1 ligoje |
| HIVEP2HIVEP zinc finger 2 | Kartais (5–29%) | 1 ligoje |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Kartais (5–29%) | 1 ligoje |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Kartais (5–29%) | 1 ligoje |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Kartais (5–29%) | 1 ligoje |
| IFT172intraflagellar transport 172 | Kartais (5–29%) | 1 ligoje |
| IFT27intraflagellar transport 27 | Kartais (5–29%) | 1 ligoje |
| IFT74intraflagellar transport 74 | Kartais (5–29%) | 1 ligoje |
| JARID2jumonji and AT-rich interaction domain containing 2 | Kartais (5–29%) | 1 ligoje |
| KIF26Akinesin family member 26A | Kartais (5–29%) | 1 ligoje |
| KMT2Blysine methyltransferase 2B | Kartais (5–29%) | 1 ligoje |
| LOXlysyl oxidase | Kartais (5–29%) | 1 ligoje |
| LZTFL1leucine zipper transcription factor like 1 | Kartais (5–29%) | 1 ligoje |
| MADDMAP kinase activating death domain | Kartais (5–29%) | 1 ligoje |
| MAMLD1mastermind like domain containing 1 | Kartais (5–29%) | 1 ligoje |
| MAT2Amethionine adenosyltransferase 2A | Kartais (5–29%) | 1 ligoje |
| MED25mediator complex subunit 25 | Kartais (5–29%) | 2 ligose |
| MEGF8multiple EGF like domains 8 | Kartais (5–29%) | 1 ligoje |
| MFAP5microfibril associated protein 5 | Kartais (5–29%) | 1 ligoje |
| MIA3MIA SH3 domain ER export factor 3 | Kartais (5–29%) | 1 ligoje |
| MKKSMKKS centrosomal shuttling protein | Kartais (5–29%) | 1 ligoje |
| MKS1MKS transition zone complex subunit 1 | Kartais (5–29%) | 1 ligoje |
| MPLKIPM-phase specific PLK1 interacting protein | Kartais (5–29%) | 2 ligose |
| MSL2MSL complex subunit 2 | Kartais (5–29%) | 1 ligoje |
| MSL3MSL complex subunit 3 | Kartais (5–29%) | 1 ligoje |
| MTM1myotubularin 1 | Kartais (5–29%) | 1 ligoje |
| MYH11myosin heavy chain 11 | Kartais (5–29%) | 1 ligoje |
| MYL11myosin light chain 11 | Kartais (5–29%) | 1 ligoje |
| MYLKmyosin light chain kinase | Kartais (5–29%) | 1 ligoje |
| NARS1asparaginyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| NPHP1nephrocystin 1 | Kartais (5–29%) | 1 ligoje |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Kartais (5–29%) | 1 ligoje |
| ODC1ornithine decarboxylase 1 | Kartais (5–29%) | 1 ligoje |
| PDGFRBplatelet derived growth factor receptor beta | Kartais (5–29%) | 1 ligoje |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Kartais (5–29%) | 1 ligoje |
| PRKG1protein kinase cGMP-dependent 1 | Kartais (5–29%) | 1 ligoje |
| PRMT7protein arginine methyltransferase 7 | Kartais (5–29%) | 2 ligose |
| RAB34RAB34, member RAS oncogene family | Kartais (5–29%) | 1 ligoje |
| RAP1BRAP1B, member of RAS oncogene family | Kartais (5–29%) | 1 ligoje |
| RNF113Aring finger protein 113A | Kartais (5–29%) | 1 ligoje |
| RNU4-2RNA, U4 small nuclear 2 | Kartais (5–29%) | 1 ligoje |
| RSPO2R-spondin 2 | Kartais (5–29%) | 1 ligoje |
| RTTNrotatin | Kartais (5–29%) | 1 ligoje |
| SCAPERS-phase cyclin A associated protein in the ER | Kartais (5–29%) | 1 ligoje |
| SCLT1sodium channel and clathrin linker 1 | Kartais (5–29%) | 1 ligoje |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Kartais (5–29%) | 1 ligoje |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Kartais (5–29%) | 1 ligoje |
| SEC61A1SEC61 translocon subunit alpha 1 | Kartais (5–29%) | 1 ligoje |
| SETBP1SET binding protein 1 | Kartais (5–29%) | 1 ligoje |
| SGSM3small G protein signaling modulator 3 | Kartais (5–29%) | 1 ligoje |
| SIM1SIM bHLH transcription factor 1 | Kartais (5–29%) | 1 ligoje |
| SIX1SIX homeobox 1 | Kartais (5–29%) | 1 ligoje |
| SIX5SIX homeobox 5 | Kartais (5–29%) | 1 ligoje |
| SLC4A10solute carrier family 4 member 10 | Kartais (5–29%) | 1 ligoje |
| SMAD2SMAD family member 2 | Kartais (5–29%) | 1 ligoje |
| SMAD3SMAD family member 3 | Kartais (5–29%) | 3 ligose |
| SMAD4SMAD family member 4 | Kartais (5–29%) | 1 ligoje |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Kartais (5–29%) | 1 ligoje |
| SPENspen family transcriptional repressor | Kartais (5–29%) | 1 ligoje |
| TARS1threonyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| TBCBtubulin folding cofactor B | Kartais (5–29%) | 1 ligoje |
| THSD4thrombospondin type 1 domain containing 4 | Kartais (5–29%) | 1 ligoje |
| TRIM32tripartite motif containing 32 | Kartais (5–29%) | 1 ligoje |
| TRIOtrio Rho guanine nucleotide exchange factor | Kartais (5–29%) | 1 ligoje |
| TRIP11thyroid hormone receptor interactor 11 | Kartais (5–29%) | 1 ligoje |
| TTC8tetratricopeptide repeat domain 8 | Kartais (5–29%) | 1 ligoje |
| WBP11WW domain binding protein 11 | Kartais (5–29%) | 1 ligoje |
| WDPCPWD repeat containing planar cell polarity effector | Kartais (5–29%) | 1 ligoje |
| WDR11WD repeat domain 11 | Kartais (5–29%) | 1 ligoje |
| WDR83OSWD repeat domain 83 opposite strand | Kartais (5–29%) | 1 ligoje |
| WSB2WD repeat and SOCS box containing 2 | Kartais (5–29%) | 1 ligoje |
| ZFXzinc finger protein X-linked | Kartais (5–29%) | 1 ligoje |
| ZNF699zinc finger protein 699 | Kartais (5–29%) | 1 ligoje |
| FOXF1forkhead box F1 | Retai (1–4 %) | 1 ligoje |
| ACTA1actin alpha 1, skeletal muscle | Neužfiksuota | 1 ligoje |
| ARCN1archain 1 coat protein complex I subunit delta | Neužfiksuota | 1 ligoje |
| ASXL2ASXL transcriptional regulator 2 | Neužfiksuota | 1 ligoje |
| ATP6V1AATPase H+ transporting V1 subunit A | Neužfiksuota | 1 ligoje |
| BMP4bone morphogenetic protein 4 | Neužfiksuota | 1 ligoje |
| CEP135centrosomal protein 135 | Neužfiksuota | 1 ligoje |
| CEP152centrosomal protein 152 | Neužfiksuota | 1 ligoje |
| COL3A1collagen type III alpha 1 chain | Neužfiksuota | 1 ligoje |
| CREBBPCREB binding lysine acetyltransferase | Neužfiksuota | 1 ligoje |
| CRLF1cytokine receptor like factor 1 | Neužfiksuota | 1 ligoje |
| CRPPACDP-L-ribitol pyrophosphorylase A | Neužfiksuota | 1 ligoje |
| DGCR2DiGeorge syndrome critical region gene 2 | Neužfiksuota | 1 ligoje |
| DGCR6DiGeorge syndrome critical region gene 6 | Neužfiksuota | 1 ligoje |
| DGCR8DGCR8 microprocessor complex subunit | Neužfiksuota | 1 ligoje |
| ESS2ess-2 spliceosome associated protein | Neužfiksuota | 1 ligoje |
| GBA1glucosylceramidase beta 1 | Neužfiksuota | 1 ligoje |
| GLE1GLE1 RNA export mediator | Neužfiksuota | 1 ligoje |
| HDAC8histone deacetylase 8 | Neužfiksuota | 1 ligoje |
| IGF1Rinsulin like growth factor 1 receptor | Neužfiksuota | 1 ligoje |
| ITGA8integrin subunit alpha 8 | Neužfiksuota | 1 ligoje |
| MAGEL2MAGE family member L2 | Neužfiksuota | 1 ligoje |
| MBD5methyl-CpG binding domain protein 5 | Neužfiksuota | 1 ligoje |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Neužfiksuota | 1 ligoje |
| MRPS22mitochondrial ribosomal protein S22 | Neužfiksuota | 1 ligoje |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Neužfiksuota | 1 ligoje |
| PUS7pseudouridine synthase 7 | Neužfiksuota | 1 ligoje |
| RARBretinoic acid receptor beta | Neužfiksuota | 1 ligoje |
| RBBP8RB binding protein 8, endonuclease | Neužfiksuota | 1 ligoje |
| RPL5ribosomal protein L5 | Neužfiksuota | 1 ligoje |
| RPS19ribosomal protein S19 | Neužfiksuota | 1 ligoje |
| SF3B4splicing factor 3b subunit 4 | Neužfiksuota | 1 ligoje |
| SLC25A24solute carrier family 25 member 24 | Neužfiksuota | 1 ligoje |
| SLC6A9solute carrier family 6 member 9 | Neužfiksuota | 1 ligoje |
| SMOC1SPARC related modular calcium binding 1 | Neužfiksuota | 1 ligoje |
| SRCAPSnf2 related CREBBP activator protein | Neužfiksuota | 1 ligoje |
| TBX1T-box transcription factor 1 | Neužfiksuota | 1 ligoje |
| TNPO2transportin 2 | Neužfiksuota | 1 ligoje |
| TPM2tropomyosin 2 | Neužfiksuota | 1 ligoje |
| WDR35WD repeat domain 35 | Neužfiksuota | 1 ligoje |
| WNK3WNK lysine deficient protein kinase 3 | Neužfiksuota | 1 ligoje |
| ZBTB24zinc finger and BTB domain containing 24 | Neužfiksuota | 1 ligoje |
| ZC4H2zinc finger C4H2-type containing | Neužfiksuota | 1 ligoje |
| ZNHIT3zinc finger HIT-type containing 3 | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
Siauresni požymiai
Platesni požymiai
Iš kur tai žinoma
- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.17-8666dff2.
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Vienas testas. Atsakymai visam gyvenimui.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites