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Tunnus
Short philtrum
Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border.
Kokkuvõte
- Teised nimetused
- Decreased height of philtrum, Decreased length of philtrum, Decreased vertical dimension of philtrum, Vertical hypoplasia of philtrum
- Kehasüsteem
- Abnormality of head or neck
Short philtrumHP:0000322
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Logi sisseKüsiAlustaalates 449 $
Read the genes linked to Short philtrum, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test267 geeni on seotud tunnusega Short philtrum
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Short philtrum. 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 |
|---|---|---|
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Alati | Esineb 1 haiguses |
| ASH1LASH1 like histone lysine methyltransferase | Alati | Esineb 1 haiguses |
| CCDC22CCC complex scaffolding subunit CCDC22 | Alati | Esineb 1 haiguses |
| CDC42cell division cycle 42 | Alati | Esineb 2 haiguses |
| CHAMP1chromosome alignment maintaining phosphoprotein 1 | Alati | Esineb 1 haiguses |
| DENND5ADENN domain containing 5A | Alati | Esineb 1 haiguses |
| EIF4A2eukaryotic translation initiation factor 4A2 | Alati | Esineb 1 haiguses |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Alati | Esineb 1 haiguses |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Alati | Esineb 1 haiguses |
| GATAD2BGATA zinc finger domain containing 2B | Alati | Esineb 2 haiguses |
| GMPPAGDP-mannose pyrophosphorylase A | Alati | Esineb 1 haiguses |
| H4C11H4 clustered histone 11 | Alati | Esineb 1 haiguses |
| IKZF2IKAROS family zinc finger 2 | Alati | Esineb 1 haiguses |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Alati | Esineb 1 haiguses |
| IREB2iron responsive element binding protein 2 | Alati | Esineb 1 haiguses |
| ITCHitchy E3 ubiquitin protein ligase | Alati | Esineb 1 haiguses |
| JKAMPJNK1/MAPK8 associated membrane protein | Alati | Esineb 1 haiguses |
| KCNK4potassium two pore domain channel subfamily K member 4 | Alati | Esineb 1 haiguses |
| KDM6Blysine demethylase 6B | Alati | Esineb 1 haiguses |
| KIDINS220kinase D interacting substrate 220 | Alati | Esineb 1 haiguses |
| LARP7La ribonucleoprotein 7, transcriptional regulator | Alati | Esineb 2 haiguses |
| MED12mediator complex subunit 12 | Alati | Esineb 2 haiguses |
| NONOnon-POU domain containing octamer binding | Alati | Esineb 2 haiguses |
| NSD2nuclear receptor binding SET domain protein 2 | Alati | Esineb 3 haiguses |
| PTH1Rparathyroid hormone 1 receptor | Alati | Esineb 1 haiguses |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Alati | Esineb 3 haiguses |
| RAP1GDS1Rap1 GTPase-GDP dissociation stimulator 1 | Alati | Esineb 1 haiguses |
| SMAD4SMAD family member 4 | Alati | Esineb 1 haiguses |
| SPOUT1SPOUT domain containing methyltransferase 1 | Alati | Esineb 1 haiguses |
| TAF4TATA-box binding protein associated factor 4 | Alati | Esineb 1 haiguses |
| TCF3transcription factor 3 | Alati | Esineb 1 haiguses |
| TSPAN7tetraspanin 7 | Alati | Esineb 1 haiguses |
| VPS13Bvacuolar protein sorting 13 homolog B | Alati | Esineb 2 haiguses |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Alati | Esineb 1 haiguses |
| WLSWnt ligand secretion mediator | Alati | Esineb 1 haiguses |
| ZBTB18zinc finger and BTB domain containing 18 | Alati | Esineb 1 haiguses |
| CPLX1complexin 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| CTBP1C-terminal binding protein 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| CUL4Bcullin 4B | Väga sageli (80–99%) | Esineb 1 haiguses |
| KCNJ6potassium inwardly rectifying channel subfamily J member 6 | Väga sageli (80–99%) | Esineb 2 haiguses |
Näita veel 227 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| NELFAnegative elongation factor complex member A | Väga sageli (80–99%) | Esineb 1 haiguses |
| NEXMIFneurite extension and migration factor | Väga sageli (80–99%) | Esineb 2 haiguses |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Väga sageli (80–99%) | Esineb 1 haiguses |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Väga sageli (80–99%) | Esineb 3 haiguses |
| POLR3ARNA polymerase III subunit A | Väga sageli (80–99%) | Esineb 1 haiguses |
| RAB18RAB18, member RAS oncogene family | Väga sageli (80–99%) | Esineb 1 haiguses |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SH3PXD2BSH3 and PX domains 2B | Väga sageli (80–99%) | Esineb 1 haiguses |
| SRCAPSnf2 related CREBBP activator protein | Väga sageli (80–99%) | Esineb 2 haiguses |
| TBC1D20TBC1 domain family member 20 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TCF4transcription factor 4 | Väga sageli (80–99%) | Esineb 2 haiguses |
| TFAP2Btranscription factor AP-2 beta | Väga sageli (80–99%) | Esineb 2 haiguses |
| TMEM70transmembrane protein 70 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TXNL4Athioredoxin like 4A | Väga sageli (80–99%) | Esineb 1 haiguses |
| ADAMTSL1ADAMTS like 1 | Sageli (30–79%) | Esineb 1 haiguses |
| AFF3ALF transcription elongation factor 3 | Sageli (30–79%) | Esineb 1 haiguses |
| ALX4ALX homeobox 4 | Sageli (30–79%) | Esineb 1 haiguses |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Sageli (30–79%) | Esineb 1 haiguses |
| ARID1AAT-rich interaction domain 1A | Sageli (30–79%) | Esineb 1 haiguses |
| ARID2AT-rich interaction domain 2 | Sageli (30–79%) | Esineb 1 haiguses |
| AUTS2activator of transcription and developmental regulator AUTS2 | Sageli (30–79%) | Esineb 2 haiguses |
| BCAS3BCAS3 microtubule associated cell migration factor | Sageli (30–79%) | Esineb 1 haiguses |
| BPTFbromodomain PHD finger transcription factor | Sageli (30–79%) | Esineb 1 haiguses |
| C1GALT1C1C1GALT1 specific chaperone 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CDH11cadherin 11 | Sageli (30–79%) | Esineb 1 haiguses |
| CDONcell adhesion associated, oncogene regulated | Sageli (30–79%) | Esineb 1 haiguses |
| CKAP2Lcytoskeleton associated protein 2L | Sageli (30–79%) | Esineb 2 haiguses |
| CRIPTOcripto, EGF-CFC family member | Sageli (30–79%) | Esineb 1 haiguses |
| DISP1dispatched RND transporter family member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| DLL1delta like canonical Notch ligand 1 | Sageli (30–79%) | Esineb 1 haiguses |
| DOCK7dedicator of cytokinesis 7 | Sageli (30–79%) | Esineb 2 haiguses |
| DPF2double PHD fingers 2 | Sageli (30–79%) | Esineb 1 haiguses |
| EDEM3ER degradation enhancing alpha-mannosidase like protein 3 | Sageli (30–79%) | Esineb 1 haiguses |
| EMC1ER membrane protein complex subunit 1 | Sageli (30–79%) | Esineb 2 haiguses |
| EPB41L1erythrocyte membrane protein band 4.1 like 1 | Sageli (30–79%) | Esineb 1 haiguses |
| EXT2exostosin glycosyltransferase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| FGF8fibroblast growth factor 8 | Sageli (30–79%) | Esineb 1 haiguses |
| FGFR1fibroblast growth factor receptor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| FGFRL1fibroblast growth factor receptor like 1 | Sageli (30–79%) | Esineb 1 haiguses |
| FIG4FIG4 phosphoinositide 5-phosphatase | Sageli (30–79%) | Esineb 2 haiguses |
| FOXH1forkhead box H1 | Sageli (30–79%) | Esineb 1 haiguses |
| FOXL2forkhead box L2 | Sageli (30–79%) | Esineb 1 haiguses |
| GAS1growth arrest specific 1 | Sageli (30–79%) | Esineb 1 haiguses |
| GLI2GLI family zinc finger 2 | Sageli (30–79%) | Esineb 2 haiguses |
| GON4Lgon-4 like | Sageli (30–79%) | Esineb 1 haiguses |
| H4C9H4 clustered histone 9 | Sageli (30–79%) | Esineb 1 haiguses |
| HIVEP2HIVEP zinc finger 2 | Sageli (30–79%) | Esineb 1 haiguses |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Sageli (30–79%) | Esineb 1 haiguses |
| HOXB1homeobox B1 | Sageli (30–79%) | Esineb 1 haiguses |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| KAT6Alysine acetyltransferase 6A | Sageli (30–79%) | Esineb 1 haiguses |
| KCNK9potassium two pore domain channel subfamily K member 9 | Sageli (30–79%) | Esineb 2 haiguses |
| KDF1keratinocyte differentiation factor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| KDM4Blysine demethylase 4B | Sageli (30–79%) | Esineb 1 haiguses |
| KICS2KICSTOR subunit 2 | Sageli (30–79%) | Esineb 1 haiguses |
| KIF7kinesin family member 7 | Sageli (30–79%) | Esineb 1 haiguses |
| LRRC32leucine rich repeat containing 32 | Sageli (30–79%) | Esineb 1 haiguses |
| MAN1B1mannosidase alpha class 1B member 1 | Sageli (30–79%) | Esineb 2 haiguses |
| MCTP2multiple C2 and transmembrane domain containing 2 | Sageli (30–79%) | Esineb 1 haiguses |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Sageli (30–79%) | Esineb 1 haiguses |
| MED25mediator complex subunit 25 | Sageli (30–79%) | Esineb 2 haiguses |
| MEF2Cmyocyte enhancer factor 2C | Sageli (30–79%) | Esineb 2 haiguses |
| MEIS2Meis homeobox 2 | Sageli (30–79%) | Esineb 1 haiguses |
| NFIXnuclear factor I X | Sageli (30–79%) | Esineb 2 haiguses |
| NKAPNFKB activating protein | Sageli (30–79%) | Esineb 1 haiguses |
| NODALnodal growth differentiation factor | Sageli (30–79%) | Esineb 1 haiguses |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Sageli (30–79%) | Esineb 1 haiguses |
| NSRP1nuclear speckle splicing regulatory protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PDE4Dphosphodiesterase 4D | Sageli (30–79%) | Esineb 1 haiguses |
| PHF21APHD finger protein 21A | Sageli (30–79%) | Esineb 1 haiguses |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Sageli (30–79%) | Esineb 1 haiguses |
| POGZpogo transposable element derived with ZNF domain | Sageli (30–79%) | Esineb 2 haiguses |
| PQBP1polyglutamine binding protein 1 | Sageli (30–79%) | Esineb 2 haiguses |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Sageli (30–79%) | Esineb 1 haiguses |
| PSMC3proteasome 26S subunit, ATPase 3 | Sageli (30–79%) | Esineb 1 haiguses |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Sageli (30–79%) | Esineb 1 haiguses |
| PTCH1patched 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PUS7pseudouridine synthase 7 | Sageli (30–79%) | Esineb 1 haiguses |
| RAI1retinoic acid induced 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RNF2ring finger protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SHHsonic hedgehog signaling molecule | Sageli (30–79%) | Esineb 1 haiguses |
| SIX3SIX homeobox 3 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC35A2solute carrier family 35 member A2 | Sageli (30–79%) | Esineb 1 haiguses |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Sageli (30–79%) | Esineb 1 haiguses |
| SOX11SRY-box transcription factor 11 | Sageli (30–79%) | Esineb 1 haiguses |
| STIM1stromal interaction molecule 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SUFUSUFU negative regulator of hedgehog signaling | Sageli (30–79%) | Esineb 1 haiguses |
| TBR1T-box brain transcription factor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TGIF1TGFB induced factor homeobox 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TMLHEtrimethyllysine hydroxylase, epsilon | Sageli (30–79%) | Esineb 1 haiguses |
| TRAPPC9trafficking protein particle complex subunit 9 | Sageli (30–79%) | Esineb 1 haiguses |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Sageli (30–79%) | Esineb 1 haiguses |
| TWIST1twist family bHLH transcription factor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TWIST2twist family bHLH transcription factor 2 | Sageli (30–79%) | Esineb 1 haiguses |
| UBE3Bubiquitin protein ligase E3B | Sageli (30–79%) | Esineb 1 haiguses |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Sageli (30–79%) | Esineb 1 haiguses |
| VAC14VAC14 component of PIKFYVE complex | Sageli (30–79%) | Esineb 1 haiguses |
| VPS51VPS51 subunit of GARP complex | Sageli (30–79%) | Esineb 1 haiguses |
| WBP4WW domain binding protein 4 | Sageli (30–79%) | Esineb 1 haiguses |
| WDR26WD repeat domain 26 | Sageli (30–79%) | Esineb 1 haiguses |
| ZDHHC9zDHHC palmitoyltransferase 9 | Sageli (30–79%) | Esineb 1 haiguses |
| ZEB2zinc finger E-box binding homeobox 2 | Sageli (30–79%) | Esineb 2 haiguses |
| ZIC2Zic family zinc finger 2 | Sageli (30–79%) | Esineb 1 haiguses |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| AHDC1AT-hook DNA binding motif containing 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Mõnikord (5–29%) | Esineb 2 haiguses |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| APCAPC regulator of Wnt signaling pathway | Mõnikord (5–29%) | Esineb 1 haiguses |
| ARVCFARVCF delta catenin family member | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATXN7L3ataxin 7 like 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CCBE1collagen and calcium binding EGF domains 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CDC42BPBCDC42 binding protein kinase beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| CDH2cadherin 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CDK13cyclin dependent kinase 13 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CHD5chromodomain helicase DNA binding protein 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CLCN3Cl-/H+ antiporter 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CNOT3CCR4-NOT transcription complex subunit 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| COMTcatechol-O-methyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| CREBBPCREB binding lysine acetyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| CRELD1CRELD disulfide isomerase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CTCFCCCTC-binding factor | Mõnikord (5–29%) | Esineb 2 haiguses |
| DHX37DEAH-box helicase 37 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DLK1delta like non-canonical Notch ligand 1 | Mõnikord (5–29%) | Esineb 3 haiguses |
| DPYSL5dihydropyrimidinase like 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DVL1dishevelled segment polarity protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DVL3dishevelled segment polarity protein 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERLIN2ER lipid raft associated 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| FAT4FAT atypical cadherin 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FBXO11F-box protein 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FEM1Bfem-1 homolog B | Mõnikord (5–29%) | Esineb 1 haiguses |
| FRYLFRY like transcription coactivator | Mõnikord (5–29%) | Esineb 1 haiguses |
| FZD2frizzled class receptor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GNB1G protein subunit beta 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GP1BBglycoprotein Ib platelet subunit beta | Mõnikord (5–29%) | Esineb 1 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 |
| H4C5H4 clustered histone 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HDAC6histone deacetylase 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HIRAhistone cell cycle regulator | Mõnikord (5–29%) | Esineb 1 haiguses |
| JARID2jumonji and AT-rich interaction domain containing 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| JMJD1Cjumonji domain containing 1C | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KIF26Akinesin family member 26A | Mõnikord (5–29%) | Esineb 1 haiguses |
| LRP4LDL receptor related protein 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MADDMAP kinase activating death domain | Mõnikord (5–29%) | Esineb 1 haiguses |
| MARK2microtubule affinity regulating kinase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MED12Lmediator complex subunit 12L | Mõnikord (5–29%) | Esineb 1 haiguses |
| MEG3maternally expressed 3 | Mõnikord (5–29%) | Esineb 3 haiguses |
| MID2midline 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MTX2metaxin 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| NXNnucleoredoxin | 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 |
| 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 |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Mõnikord (5–29%) | Esineb 1 haiguses |
| PPP2CAprotein phosphatase 2 catalytic subunit alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRKACBprotein kinase cAMP-activated catalytic subunit beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNU4-2RNA, U4 small nuclear 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNU4ATACRNA, U4atac small nuclear | Mõnikord (5–29%) | Esineb 1 haiguses |
| ROR2ROR family WNT receptor 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| RREB1ras responsive element binding protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RTL1retrotransposon Gag like 1 | Mõnikord (5–29%) | Esineb 3 haiguses |
| SATB2SATB homeobox 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SEC24CSEC24 homolog C, COPII component | Mõnikord (5–29%) | Esineb 1 haiguses |
| SHMT2serine hydroxymethyltransferase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SIN3ASIN3 transcription regulator family member A | 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 |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMC1Astructural maintenance of chromosomes 1A | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMPD4sphingomyelin phosphodiesterase 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SONSON DNA and RNA binding protein | Mõnikord (5–29%) | Esineb 2 haiguses |
| SPENspen family transcriptional repressor | Mõnikord (5–29%) | Esineb 1 haiguses |
| TAOK1TAO kinase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TBX1T-box transcription factor 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| TCTN3tectonic family member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TMEM94transmembrane protein 94 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRIOtrio Rho guanine nucleotide exchange factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRIP12thyroid hormone receptor interactor 12 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRMT10AtRNA methyltransferase 10A | Mõnikord (5–29%) | Esineb 1 haiguses |
| TTC5tetratricopeptide repeat domain 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| WNT4Wnt family member 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| WNT5AWnt family member 5A | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZNF292zinc finger protein 292 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ACBD6acyl-CoA binding domain containing 6 | Harva (1–4%) | Esineb 1 haiguses |
| ANKRD17ankyrin repeat domain 17 | Harva (1–4%) | Esineb 1 haiguses |
| CNTNAP2contactin associated protein 2 | Harva (1–4%) | Esineb 1 haiguses |
| SETBP1SET binding protein 1 | Harva (1–4%) | Esineb 1 haiguses |
| SMSspermine synthase | Harva (1–4%) | Esineb 2 haiguses |
| SPTBN1spectrin beta, non-erythrocytic 1 | Harva (1–4%) | Esineb 1 haiguses |
| ARID1BAT-rich interaction domain 1B | Pole registreeritud | Esineb 1 haiguses |
| BCL11BBCL11 transcription factor B | Pole registreeritud | Esineb 1 haiguses |
| COL3A1collagen type III alpha 1 chain | Pole registreeritud | Esineb 1 haiguses |
| FREM1FRAS1 related extracellular matrix 1 | Pole registreeritud | Esineb 1 haiguses |
| GALNT2polypeptide N-acetylgalactosaminyltransferase 2 | Pole registreeritud | Esineb 1 haiguses |
| IFT57intraflagellar transport 57 | Pole registreeritud | Esineb 1 haiguses |
| KIFBPkinesin family binding protein | Pole registreeritud | Esineb 1 haiguses |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Pole registreeritud | Esineb 1 haiguses |
| NOGnoggin | Pole registreeritud | Esineb 1 haiguses |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Pole registreeritud | Esineb 1 haiguses |
| OPHN1oligophrenin 1 | Pole registreeritud | Esineb 1 haiguses |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Pole registreeritud | Esineb 1 haiguses |
| PITX2paired like homeodomain 2 | Pole registreeritud | Esineb 1 haiguses |
| RALARAS like proto-oncogene A | Pole registreeritud | Esineb 1 haiguses |
| RUNX2RUNX family transcription factor 2 | Pole registreeritud | Esineb 1 haiguses |
| SLC35A1solute carrier family 35 member A1 | Pole registreeritud | Esineb 1 haiguses |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Pole registreeritud | Esineb 1 haiguses |
| STAG2STAG2 cohesin complex component | Pole registreeritud | Esineb 1 haiguses |
| TALDO1transaldolase 1 | Pole registreeritud | Esineb 1 haiguses |
| TMEM237transmembrane protein 237 | Pole registreeritud | Esineb 1 haiguses |
| TNPO2transportin 2 | Pole registreeritud | Esineb 1 haiguses |
| TRRAPtransformation/transcription domain associated protein | Pole registreeritud | Esineb 1 haiguses |
| UNC80unc-80 subunit of NALCN channel complex | 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.
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