Tunnus
Open mouth
A facial appearance characterized by a permanently or nearly permanently opened mouth.
Kokkuvõte
- Teised nimetused
- Gaped jawed appearance, Gaped mouthed appearance, Open mouth appearance, Slack jawed appearance
- Kehasüsteem
- Abnormality of head or neck
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Open mouth, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test128 geeni on seotud tunnusega Open mouth
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Open mouth. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ADAM22ADAM metallopeptidase domain 22 | Alati | Esineb 1 haiguses |
| ASH1LASH1 like histone lysine methyltransferase | Alati | Esineb 1 haiguses |
| BCAS3BCAS3 microtubule associated cell migration factor | Alati | Esineb 1 haiguses |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Alati | Esineb 1 haiguses |
| CHD8chromodomain helicase DNA binding protein 8 | Alati | Esineb 1 haiguses |
| DENND5ADENN domain containing 5A | Alati | Esineb 1 haiguses |
| DSTdystonin | Alati | Esineb 2 haiguses |
| GCSHglycine cleavage system protein H | Alati | Esineb 1 haiguses |
| HOXB1homeobox B1 | Alati | Esineb 1 haiguses |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Alati | Esineb 1 haiguses |
| MTORmechanistic target of rapamycin kinase | Alati | Esineb 2 haiguses |
| NEXMIFneurite extension and migration factor | Alati | Esineb 1 haiguses |
| NONOnon-POU domain containing octamer binding | Alati | Esineb 2 haiguses |
| RNU2-2RNA, U2 small nuclear 2 | Alati | Esineb 1 haiguses |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Alati | Esineb 1 haiguses |
| SLC35A2solute carrier family 35 member A2 | Alati | Esineb 1 haiguses |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CHAMP1chromosome alignment maintaining phosphoprotein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| KCNJ6potassium inwardly rectifying channel subfamily J member 6 | Väga sageli (80–99%) | Esineb 2 haiguses |
| PAK3p21 (RAC1) activated kinase 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PDE4Dphosphodiesterase 4D | Väga sageli (80–99%) | Esineb 1 haiguses |
| PLXND1plexin D1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Väga sageli (80–99%) | Esineb 1 haiguses |
| REV3LREV3 like, DNA directed polymerase zeta catalytic subunit | Väga sageli (80–99%) | Esineb 1 haiguses |
| RPS6KA3ribosomal protein S6 kinase A3 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SLC9A6solute carrier family 9 member A6 | Väga sageli (80–99%) | Esineb 2 haiguses |
| VPS13Bvacuolar protein sorting 13 homolog B | Väga sageli (80–99%) | Esineb 2 haiguses |
| ZNHIT3zinc finger HIT-type containing 3 | Väga sageli (80–99%) | Esineb 2 haiguses |
| AGO2argonaute RISC catalytic component 2 | Sageli (30–79%) | Esineb 1 haiguses |
| ANKLE2ankyrin repeat and LEM domain containing 2 | Sageli (30–79%) | Esineb 1 haiguses |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Sageli (30–79%) | Esineb 1 haiguses |
| CSNK2Bcasein kinase 2 beta | Sageli (30–79%) | Esineb 1 haiguses |
| ECEL1endothelin converting enzyme like 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ELNelastin | Sageli (30–79%) | Esineb 1 haiguses |
| FOXP1forkhead box P1 | Sageli (30–79%) | Esineb 2 haiguses |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Sageli (30–79%) | Esineb 3 haiguses |
| KCNK9potassium two pore domain channel subfamily K member 9 | Sageli (30–79%) | Esineb 1 haiguses |
| MBD5methyl-CpG binding domain protein 5 | Sageli (30–79%) | Esineb 2 haiguses |
| MED12mediator complex subunit 12 | Sageli (30–79%) | Esineb 2 haiguses |
Näita veel 88 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| MED13Lmediator complex subunit 13L | Sageli (30–79%) | Esineb 2 haiguses |
| MLXIPLMLX interacting protein like | Sageli (30–79%) | Esineb 1 haiguses |
| NFIXnuclear factor I X | Sageli (30–79%) | Esineb 1 haiguses |
| NKAPNFKB activating protein | Sageli (30–79%) | Esineb 1 haiguses |
| OGTO-linked N-acetylglucosamine (GlcNAc) transferase | Sageli (30–79%) | Esineb 1 haiguses |
| PDZD8PDZ domain containing 8 | Sageli (30–79%) | Esineb 1 haiguses |
| PIGFphosphatidylinositol glycan anchor biosynthesis class F | Sageli (30–79%) | Esineb 1 haiguses |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Sageli (30–79%) | Esineb 1 haiguses |
| POGZpogo transposable element derived with ZNF domain | Sageli (30–79%) | Esineb 2 haiguses |
| PPP2R1Aprotein phosphatase 2 scaffold subunit Aalpha | Sageli (30–79%) | Esineb 2 haiguses |
| RAI1retinoic acid induced 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RBSNrabenosyn, RAB effector | Sageli (30–79%) | Esineb 1 haiguses |
| RNU4-2RNA, U4 small nuclear 2 | Sageli (30–79%) | Esineb 1 haiguses |
| RPS23ribosomal protein S23 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC6A8solute carrier family 6 member 8 | Sageli (30–79%) | Esineb 1 haiguses |
| SOX11SRY-box transcription factor 11 | Sageli (30–79%) | Esineb 1 haiguses |
| TBC1D24TBC1 domain family member 24 | Sageli (30–79%) | Esineb 2 haiguses |
| TET3tet methylcytosine dioxygenase 3 | Sageli (30–79%) | Esineb 1 haiguses |
| TFE3transcription factor binding to IGHM enhancer 3 | Sageli (30–79%) | Esineb 1 haiguses |
| TUBB4Atubulin beta 4A class IVa | Sageli (30–79%) | Esineb 1 haiguses |
| WDR83OSWD repeat domain 83 opposite strand | Sageli (30–79%) | Esineb 1 haiguses |
| ZEB2zinc finger E-box binding homeobox 2 | Sageli (30–79%) | Esineb 2 haiguses |
| AKT1AKT serine/threonine kinase 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| ASXL3ASXL transcriptional regulator 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CACNA1Icalcium voltage-gated channel subunit alpha1 I | Mõnikord (5–29%) | Esineb 1 haiguses |
| CRELD1CRELD disulfide isomerase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DHX30DExH-box helicase 30 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DLK1delta like non-canonical Notch ligand 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DPYDdihydropyrimidine dehydrogenase | Mõnikord (5–29%) | Esineb 1 haiguses |
| EXTL3exostosin like glycosyltransferase 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FAM149B1family with sequence similarity 149 member B1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| H3-3AH3.3 histone A | Mõnikord (5–29%) | Esineb 1 haiguses |
| H4C5H4 clustered histone 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KDM2Blysine demethylase 2B | Mõnikord (5–29%) | Esineb 1 haiguses |
| KIF7kinesin family member 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LAMA2laminin subunit alpha 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MED12Lmediator complex subunit 12L | Mõnikord (5–29%) | Esineb 1 haiguses |
| MEF2Cmyocyte enhancer factor 2C | Mõnikord (5–29%) | Esineb 1 haiguses |
| MEG3maternally expressed 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Mõnikord (5–29%) | Esineb 2 haiguses |
| NGLY1N-glycanase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Mõnikord (5–29%) | Esineb 1 haiguses |
| POLRMTRNA polymerase mitochondrial | Mõnikord (5–29%) | Esineb 1 haiguses |
| RAC1Rac family small GTPase 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| RAP1BRAP1B, member of RAS oncogene family | Mõnikord (5–29%) | Esineb 1 haiguses |
| RTL1retrotransposon Gag like 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SETBP1SET binding protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| STRADASTE20 related adaptor alpha | Mõnikord (5–29%) | Esineb 2 haiguses |
| TBCKTBC1 domain containing kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| CTCFCCCTC-binding factor | Harva (1–4%) | Esineb 1 haiguses |
| AHI1Abelson helper integration site 1 | Pole registreeritud | Esineb 1 haiguses |
| ATN1atrophin 1 | Pole registreeritud | Esineb 1 haiguses |
| ATRXATRX chromatin remodeler | Pole registreeritud | Esineb 1 haiguses |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Pole registreeritud | Esineb 1 haiguses |
| CCDC174coiled-coil domain containing 174 | Pole registreeritud | Esineb 1 haiguses |
| CLTCclathrin heavy chain | Pole registreeritud | Esineb 1 haiguses |
| DGCR2DiGeorge syndrome critical region gene 2 | Pole registreeritud | Esineb 1 haiguses |
| DGCR6DiGeorge syndrome critical region gene 6 | Pole registreeritud | Esineb 1 haiguses |
| DGCR8DGCR8 microprocessor complex subunit | Pole registreeritud | Esineb 1 haiguses |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Pole registreeritud | Esineb 1 haiguses |
| ESS2ess-2 spliceosome associated protein | Pole registreeritud | Esineb 1 haiguses |
| GBA1glucosylceramidase beta 1 | Pole registreeritud | Esineb 1 haiguses |
| HRASHRas proto-oncogene, GTPase | Pole registreeritud | Esineb 1 haiguses |
| IL1RAPL1interleukin 1 receptor accessory protein like 1 | Pole registreeritud | Esineb 1 haiguses |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Pole registreeritud | Esineb 1 haiguses |
| KRASKRas proto-oncogene, GTPase | Pole registreeritud | Esineb 1 haiguses |
| MAGEL2MAGE family member L2 | Pole registreeritud | Esineb 1 haiguses |
| MAP2K1mitogen-activated protein kinase kinase 1 | Pole registreeritud | Esineb 1 haiguses |
| MAP2K2mitogen-activated protein kinase kinase 2 | Pole registreeritud | Esineb 1 haiguses |
| NRASNRAS proto-oncogene, GTPase | Pole registreeritud | Esineb 1 haiguses |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Pole registreeritud | Esineb 1 haiguses |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Pole registreeritud | Esineb 1 haiguses |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Pole registreeritud | Esineb 1 haiguses |
| POMT2protein O-mannosyltransferase 2 | Pole registreeritud | Esineb 1 haiguses |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Pole registreeritud | Esineb 1 haiguses |
| PURApurine rich element binding protein A | Pole registreeritud | Esineb 1 haiguses |
| PUS7pseudouridine synthase 7 | Pole registreeritud | Esineb 1 haiguses |
| SIN3ASIN3 transcription regulator family member A | Pole registreeritud | Esineb 1 haiguses |
| SOX5SRY-box transcription factor 5 | Pole registreeritud | Esineb 1 haiguses |
| TBX1T-box transcription factor 1 | Pole registreeritud | Esineb 1 haiguses |
| TCF20transcription factor 20 | Pole registreeritud | Esineb 1 haiguses |
| TCF4transcription factor 4 | Pole registreeritud | Esineb 1 haiguses |
| TMEM237transmembrane protein 237 | Pole registreeritud | Esineb 1 haiguses |
| UNC80unc-80 subunit of NALCN channel complex | Pole registreeritud | Esineb 1 haiguses |
| ZSWIM6zinc finger SWIM-type containing 6 | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Kitsamad tunnused
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.16-c6eea6bf.
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast