Kellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiAlustaalates 449 $
Tunnus
Big lower jaw
Kliiniline nimetus: Mandibular prognathia
Abnormal prominence of the chin related to increased length of the mandible.
Kokkuvõte
- Teised nimetused
- Increased projection of lower jaw, Increased size of lower jaw, Increased size of mandible, Large lower jaw, Prominent chin, Prominent lower jaw, Big mandible, Enlarged mandible, Enlargement of mandible, Hyperplasia of lower jaw, Increased projection of mandible, Large mandible, Lower jaw excess, Lower jaw hyperplasia, Macromandible, Mandible prognathism, Mandibular excess, Mandibular hyperplasia, Mandibular macrognathia, Mandibular prognathism, Prognathia, Prognathism, Prominent jaw, Prominent mandible, Relative mandibular prognathism
Big lower jawHP:0000303
Kellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiAlustaalates 449 $
Read the genes linked to Big lower jaw, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test226 geeni on seotud tunnusega Big lower jaw
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Big lower jaw. 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 |
|---|---|---|
| ACANaggrecan | Alati | Esineb 3 haiguses |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Alati | Esineb 1 haiguses |
| AMOTL1angiomotin like 1 | Alati | Esineb 1 haiguses |
| APC2APC regulator of Wnt signaling pathway 2 | Alati | Esineb 1 haiguses |
| ATP6V0A1ATPase H+ transporting V0 subunit a1 | Alati | Esineb 1 haiguses |
| ATRXATRX chromatin remodeler | Alati | Esineb 1 haiguses |
| CDH11cadherin 11 | Alati | Esineb 2 haiguses |
| DDX59DEAD-box helicase 59 | Alati | Esineb 1 haiguses |
| ESAMendothelial cell adhesion molecule | Alati | Esineb 1 haiguses |
| GNB2G protein subunit beta 2 | Alati | Esineb 1 haiguses |
| GPC3glypican 3 | Alati | Esineb 2 haiguses |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Alati | Esineb 2 haiguses |
| HS6ST2heparan sulfate 6-O-sulfotransferase 2 | Alati | Esineb 1 haiguses |
| IL6STinterleukin 6 cytokine family signal transducer | Alati | Esineb 1 haiguses |
| MED16mediator complex subunit 16 | Alati | Esineb 1 haiguses |
| MYOD1myogenic differentiation 1 | Alati | Esineb 1 haiguses |
| NSD1nuclear receptor binding SET domain protein 1 | Alati | Esineb 1 haiguses |
| PRKG2protein kinase cGMP-dependent 2 | Alati | Esineb 1 haiguses |
| PTDSS1phosphatidylserine synthase 1 | Alati | Esineb 2 haiguses |
| RNF113Aring finger protein 113A | Alati | Esineb 1 haiguses |
| RNU2-2RNA, U2 small nuclear 2 | Alati | Esineb 1 haiguses |
| RPL10ribosomal protein L10 | Alati | Esineb 3 haiguses |
| SLC12A2solute carrier family 12 member 2 | Alati | Esineb 1 haiguses |
| SLC35A2solute carrier family 35 member A2 | Alati | Esineb 1 haiguses |
| SLC6A17solute carrier family 6 member 17 | Alati | Esineb 2 haiguses |
| SMAD4SMAD family member 4 | Alati | Esineb 2 haiguses |
| SOSTsclerostin | Alati | Esineb 3 haiguses |
| TPRKBTP53RK binding protein | Alati | Esineb 1 haiguses |
| UBAP2Lubiquitin associated protein 2 like | Alati | Esineb 1 haiguses |
| AGAaspartylglucosaminidase | Väga sageli (80–99%) | Esineb 1 haiguses |
| AIPAHR interacting HSP90 co-chaperone | Väga sageli (80–99%) | Esineb 2 haiguses |
| GPC4glypican 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GPR101G protein-coupled receptor 101 | Väga sageli (80–99%) | Esineb 1 haiguses |
| IL1RAPL1interleukin 1 receptor accessory protein like 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| LRP5LDL receptor related protein 5 | Väga sageli (80–99%) | Esineb 2 haiguses |
| MEN1menin 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NHSNHS actin remodeling regulator | Väga sageli (80–99%) | Esineb 1 haiguses |
| PAX3paired box 3 | Väga sageli (80–99%) | Esineb 3 haiguses |
| SLC25A24solute carrier family 25 member 24 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ACTA1actin alpha 1, skeletal muscle | Sageli (30–79%) | Esineb 1 haiguses |
Näita veel 186 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ADAMTSL1ADAMTS like 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ADAMTSL4ADAMTS like 4 | Sageli (30–79%) | Esineb 1 haiguses |
| AIMP2aminoacyl tRNA synthetase complex interacting multifunctional protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| ANKHANKH inorganic pyrophosphate transport regulator | Sageli (30–79%) | Esineb 1 haiguses |
| ANTXR1ANTXR cell adhesion molecule 1 | Sageli (30–79%) | Esineb 1 haiguses |
| APCAPC regulator of Wnt signaling pathway | Sageli (30–79%) | Esineb 1 haiguses |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Sageli (30–79%) | Esineb 1 haiguses |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Sageli (30–79%) | Esineb 1 haiguses |
| CSNK2Bcasein kinase 2 beta | Sageli (30–79%) | Esineb 1 haiguses |
| DEAF1DEAF1 transcription factor | Sageli (30–79%) | Esineb 1 haiguses |
| DOCK3dedicator of cytokinesis 3 | Sageli (30–79%) | Esineb 1 haiguses |
| EHMT1euchromatic histone lysine methyltransferase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Sageli (30–79%) | Esineb 1 haiguses |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Sageli (30–79%) | Esineb 1 haiguses |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Sageli (30–79%) | Esineb 3 haiguses |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Sageli (30–79%) | Esineb 3 haiguses |
| EXOSC5exosome component 5 | Sageli (30–79%) | Esineb 1 haiguses |
| FBN1fibrillin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| FGFR1fibroblast growth factor receptor 1 | Sageli (30–79%) | Esineb 2 haiguses |
| FGFR2fibroblast growth factor receptor 2 | Sageli (30–79%) | Esineb 6 haiguses |
| FMR1fragile X messenger ribonucleoprotein 1 | Sageli (30–79%) | Esineb 2 haiguses |
| FOXG1forkhead box G1 | Sageli (30–79%) | Esineb 1 haiguses |
| FOXP1forkhead box P1 | Sageli (30–79%) | Esineb 1 haiguses |
| GJA1gap junction protein alpha 1 | Sageli (30–79%) | Esineb 2 haiguses |
| IL11RAinterleukin 11 receptor subunit alpha | Sageli (30–79%) | Esineb 1 haiguses |
| KAT5lysine acetyltransferase 5 | Sageli (30–79%) | Esineb 1 haiguses |
| KAT6Alysine acetyltransferase 6A | Sageli (30–79%) | Esineb 1 haiguses |
| KPTNkaptin, actin binding protein | Sageli (30–79%) | Esineb 2 haiguses |
| MBD5methyl-CpG binding domain protein 5 | Sageli (30–79%) | Esineb 1 haiguses |
| MED25mediator complex subunit 25 | Sageli (30–79%) | Esineb 1 haiguses |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Sageli (30–79%) | Esineb 1 haiguses |
| NFIXnuclear factor I X | Sageli (30–79%) | Esineb 1 haiguses |
| OPHN1oligophrenin 1 | Sageli (30–79%) | Esineb 2 haiguses |
| PCGF2polycomb group ring finger 2 | Sageli (30–79%) | Esineb 1 haiguses |
| PDE4Dphosphodiesterase 4D | Sageli (30–79%) | Esineb 3 haiguses |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Sageli (30–79%) | Esineb 1 haiguses |
| PMM2phosphomannomutase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| POGZpogo transposable element derived with ZNF domain | Sageli (30–79%) | Esineb 1 haiguses |
| PQBP1polyglutamine binding protein 1 | Sageli (30–79%) | Esineb 3 haiguses |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Sageli (30–79%) | Esineb 2 haiguses |
| PTENphosphatase and tensin homolog | Sageli (30–79%) | Esineb 1 haiguses |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Sageli (30–79%) | Esineb 2 haiguses |
| RAI1retinoic acid induced 1 | Sageli (30–79%) | Esineb 2 haiguses |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Sageli (30–79%) | Esineb 1 haiguses |
| RUNX2RUNX family transcription factor 2 | Sageli (30–79%) | Esineb 1 haiguses |
| RUSC2RUN and SH3 domain containing 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SFRP4secreted frizzled related protein 4 | Sageli (30–79%) | Esineb 2 haiguses |
| SH3PXD2BSH3 and PX domains 2B | Sageli (30–79%) | Esineb 1 haiguses |
| STAG2STAG2 cohesin complex component | Sageli (30–79%) | Esineb 1 haiguses |
| STAT3signal transducer and activator of transcription 3 | Sageli (30–79%) | Esineb 1 haiguses |
| STEEP1STING1 ER exit protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| STT3ASTT3 oligosaccharyltransferase complex catalytic subunit A | Sageli (30–79%) | Esineb 1 haiguses |
| SVILsupervillin | Sageli (30–79%) | Esineb 1 haiguses |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Sageli (30–79%) | Esineb 1 haiguses |
| ZEB2zinc finger E-box binding homeobox 2 | Sageli (30–79%) | Esineb 2 haiguses |
| ACBD6acyl-CoA binding domain containing 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ACTBactin beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| AFF3ALF transcription elongation factor 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATAD3AATPase family AAA domain containing 3A | Mõnikord (5–29%) | Esineb 2 haiguses |
| ATP10AATPase phospholipid transporting 10A (putative) | Mõnikord (5–29%) | Esineb 1 haiguses |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Mõnikord (5–29%) | Esineb 1 haiguses |
| CDC42BPBCDC42 binding protein kinase beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| CHD8chromodomain helicase DNA binding protein 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CLCN3Cl-/H+ antiporter 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CLIC2CLIC family member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CNOT3CCR4-NOT transcription complex subunit 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CRELD1CRELD disulfide isomerase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CTCFCCCTC-binding factor | 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 |
| DOT1LDOT1 like histone lysine methyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| FAM20CFAM20C golgi associated secretory pathway kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| FBXO11F-box protein 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FBXW11F-box and WD repeat domain containing 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GORABgolgin, RAB6 interacting | Mõnikord (5–29%) | Esineb 2 haiguses |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GRIA4glutamate ionotropic receptor AMPA type subunit 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| H3-3BH3.3 histone B | Mõnikord (5–29%) | Esineb 1 haiguses |
| H4C5H4 clustered histone 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HNF1BHNF1 homeobox B | Mõnikord (5–29%) | Esineb 1 haiguses |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| INSRinsulin receptor | Mõnikord (5–29%) | Esineb 2 haiguses |
| KCTD1potassium channel tetramerization domain containing 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KDM5Clysine demethylase 5C | Mõnikord (5–29%) | Esineb 1 haiguses |
| KDM6Blysine demethylase 6B | Mõnikord (5–29%) | Esineb 1 haiguses |
| LTBP3latent transforming growth factor beta binding protein 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAFMAF bZIP transcription factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAN2B1mannosidase alpha class 2B member 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| MED13Lmediator complex subunit 13L | Mõnikord (5–29%) | Esineb 1 haiguses |
| MEG3maternally expressed 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MESDmesoderm development LRP chaperone | Mõnikord (5–29%) | Esineb 1 haiguses |
| MYH7myosin heavy chain 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MYH8myosin heavy chain 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NDST1N-deacetylase and N-sulfotransferase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NEXMIFneurite extension and migration factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| NSRP1nuclear speckle splicing regulatory protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| OCA2OCA2 melanosomal transmembrane protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Mõnikord (5–29%) | Esineb 1 haiguses |
| PCDHGC4protocadherin gamma subfamily C, 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PGAP2post-GPI attachment to proteins 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Mõnikord (5–29%) | Esineb 2 haiguses |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Mõnikord (5–29%) | Esineb 1 haiguses |
| PLAAT3phospholipase A and acyltransferase 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRKACBprotein kinase cAMP-activated catalytic subunit beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| PTCH1patched 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| PTCH2patched 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PUF60poly(U) binding splicing factor 60 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PYCR1pyrroline-5-carboxylate reductase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RFX7regulatory factor X7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNF125ring finger protein 125 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RTL1retrotransposon Gag like 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SELENONselenoprotein N | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC10A7solute carrier family 10 member 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC35C1solute carrier family 35 member C1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC4A10solute carrier family 4 member 10 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC6A1solute carrier family 6 member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC6A11solute carrier family 6 member 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMPD4sphingomyelin phosphodiesterase 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Mõnikord (5–29%) | Esineb 1 haiguses |
| SUFUSUFU negative regulator of hedgehog signaling | Mõnikord (5–29%) | Esineb 1 haiguses |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| TBCKTBC1 domain containing kinase | Mõnikord (5–29%) | Esineb 2 haiguses |
| TONSLtonsoku like, DNA repair protein | Mõnikord (5–29%) | Esineb 2 haiguses |
| TTNtitin | Mõnikord (5–29%) | Esineb 1 haiguses |
| UBE3Aubiquitin protein ligase E3A | Mõnikord (5–29%) | Esineb 5 haiguses |
| WDR62WD repeat domain 62 | Mõnikord (5–29%) | Esineb 1 haiguses |
| WDR83OSWD repeat domain 83 opposite strand | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZFXzinc finger protein X-linked | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CNTNAP2contactin associated protein 2 | Harva (1–4%) | Esineb 1 haiguses |
| COL13A1collagen type XIII alpha 1 chain | Harva (1–4%) | Esineb 1 haiguses |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Harva (1–4%) | Esineb 1 haiguses |
| DNMT3ADNA methyltransferase 3 alpha | Harva (1–4%) | Esineb 1 haiguses |
| GJA5gap junction protein alpha 5 | Harva (1–4%) | Esineb 1 haiguses |
| GJA8gap junction protein alpha 8 | Harva (1–4%) | Esineb 1 haiguses |
| H3-3AH3.3 histone A | Harva (1–4%) | Esineb 1 haiguses |
| KIF7kinesin family member 7 | Harva (1–4%) | Esineb 1 haiguses |
| LAMB2laminin subunit beta 2 | Harva (1–4%) | Esineb 1 haiguses |
| SMSspermine synthase | Harva (1–4%) | Esineb 2 haiguses |
| AGPAT21-acylglycerol-3-phosphate O-acyltransferase 2 | Pole registreeritud | Esineb 1 haiguses |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Pole registreeritud | Esineb 1 haiguses |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Pole registreeritud | Esineb 1 haiguses |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Pole registreeritud | Esineb 1 haiguses |
| CHRNEcholinergic receptor nicotinic epsilon subunit | Pole registreeritud | Esineb 1 haiguses |
| CLCN4Cl-/H+ antiporter 4 | Pole registreeritud | Esineb 1 haiguses |
| CUL4Bcullin 4B | Pole registreeritud | Esineb 1 haiguses |
| CUL7cullin 7 | Pole registreeritud | Esineb 1 haiguses |
| DYMdymeclin | Pole registreeritud | Esineb 1 haiguses |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Pole registreeritud | Esineb 1 haiguses |
| FLCNfolliculin | Pole registreeritud | Esineb 1 haiguses |
| GALNSgalactosamine (N-acetyl)-6-sulfatase | Pole registreeritud | Esineb 1 haiguses |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Pole registreeritud | Esineb 1 haiguses |
| GLB1galactosidase beta 1 | Pole registreeritud | Esineb 1 haiguses |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Pole registreeritud | Esineb 1 haiguses |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Pole registreeritud | Esineb 1 haiguses |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Pole registreeritud | Esineb 1 haiguses |
| IDUAalpha-L-iduronidase | Pole registreeritud | Esineb 1 haiguses |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Pole registreeritud | Esineb 1 haiguses |
| KIF11kinesin family member 11 | Pole registreeritud | Esineb 1 haiguses |
| LRP4LDL receptor related protein 4 | Pole registreeritud | Esineb 1 haiguses |
| MAGEL2MAGE family member L2 | Pole registreeritud | Esineb 1 haiguses |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Pole registreeritud | Esineb 1 haiguses |
| MUSKmuscle associated receptor tyrosine kinase | Pole registreeritud | Esineb 1 haiguses |
| MYH3myosin heavy chain 3 | Pole registreeritud | Esineb 1 haiguses |
| POC1APOC1 centriolar protein A | Pole registreeritud | Esineb 1 haiguses |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Pole registreeritud | Esineb 1 haiguses |
| RECQL4RecQ like helicase 4 | Pole registreeritud | Esineb 1 haiguses |
| RPS6KA3ribosomal protein S6 kinase A3 | Pole registreeritud | Esineb 1 haiguses |
| SETD2SET domain containing 2, histone lysine methyltransferase | Pole registreeritud | Esineb 1 haiguses |
| SLC6A8solute carrier family 6 member 8 | Pole registreeritud | Esineb 1 haiguses |
| SLC9A6solute carrier family 9 member A6 | Pole registreeritud | Esineb 1 haiguses |
| SOX18SRY-box transcription factor 18 | Pole registreeritud | Esineb 1 haiguses |
| SRCAPSnf2 related CREBBP activator protein | Pole registreeritud | Esineb 1 haiguses |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Pole registreeritud | Esineb 1 haiguses |
| TBC1D7TBC1 domain family member 7 | Pole registreeritud | Esineb 1 haiguses |
| TGFB1transforming growth factor beta 1 | Pole registreeritud | Esineb 1 haiguses |
| THUMPD1THUMP domain 1 NAT10 acetyltransferase adaptor | Pole registreeritud | Esineb 1 haiguses |
| TNFSF11TNF superfamily member 11 | Pole registreeritud | Esineb 1 haiguses |
| TNNI2troponin I2, fast skeletal type | Pole registreeritud | Esineb 1 haiguses |
| TWIST2twist family bHLH transcription factor 2 | Pole registreeritud | Esineb 1 haiguses |
| TXNL4Athioredoxin like 4A | 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.
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.
Kellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiAlustaalates 449 $
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Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast