Požymis
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.
Santrauka
- Taip pat vadinama
- Decreased height of philtrum, Decreased length of philtrum, Decreased vertical dimension of philtrum, Vertical hypoplasia of philtrum
- Kūno sistema
- Abnormality of head or neck
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to Short philtrum, and the rest of your genome, with one test.
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Įsigyti savo Genome Test267 genų susiję su Short philtrum
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Short philtrum. 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 |
|---|---|---|
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Visada | 1 ligoje |
| ASH1LASH1 like histone lysine methyltransferase | Visada | 1 ligoje |
| CCDC22CCC complex scaffolding subunit CCDC22 | Visada | 1 ligoje |
| CDC42cell division cycle 42 | Visada | 2 ligose |
| CHAMP1chromosome alignment maintaining phosphoprotein 1 | Visada | 1 ligoje |
| DENND5ADENN domain containing 5A | Visada | 1 ligoje |
| EIF4A2eukaryotic translation initiation factor 4A2 | Visada | 1 ligoje |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Visada | 1 ligoje |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Visada | 1 ligoje |
| GATAD2BGATA zinc finger domain containing 2B | Visada | 2 ligose |
| GMPPAGDP-mannose pyrophosphorylase A | Visada | 1 ligoje |
| H4C11H4 clustered histone 11 | Visada | 1 ligoje |
| IKZF2IKAROS family zinc finger 2 | Visada | 1 ligoje |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Visada | 1 ligoje |
| IREB2iron responsive element binding protein 2 | Visada | 1 ligoje |
| ITCHitchy E3 ubiquitin protein ligase | Visada | 1 ligoje |
| JKAMPJNK1/MAPK8 associated membrane protein | Visada | 1 ligoje |
| KCNK4potassium two pore domain channel subfamily K member 4 | Visada | 1 ligoje |
| KDM6Blysine demethylase 6B | Visada | 1 ligoje |
| KIDINS220kinase D interacting substrate 220 | Visada | 1 ligoje |
| LARP7La ribonucleoprotein 7, transcriptional regulator | Visada | 2 ligose |
| MED12mediator complex subunit 12 | Visada | 2 ligose |
| NONOnon-POU domain containing octamer binding | Visada | 2 ligose |
| NSD2nuclear receptor binding SET domain protein 2 | Visada | 3 ligose |
| PTH1Rparathyroid hormone 1 receptor | Visada | 1 ligoje |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Visada | 3 ligose |
| RAP1GDS1Rap1 GTPase-GDP dissociation stimulator 1 | Visada | 1 ligoje |
| SMAD4SMAD family member 4 | Visada | 1 ligoje |
| SPOUT1SPOUT domain containing methyltransferase 1 | Visada | 1 ligoje |
| TAF4TATA-box binding protein associated factor 4 | Visada | 1 ligoje |
| TCF3transcription factor 3 | Visada | 1 ligoje |
| TSPAN7tetraspanin 7 | Visada | 1 ligoje |
| VPS13Bvacuolar protein sorting 13 homolog B | Visada | 2 ligose |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Visada | 1 ligoje |
| WLSWnt ligand secretion mediator | Visada | 1 ligoje |
| ZBTB18zinc finger and BTB domain containing 18 | Visada | 1 ligoje |
| CPLX1complexin 1 | Labai dažnai (80–99%) | 2 ligose |
| CTBP1C-terminal binding protein 1 | Labai dažnai (80–99%) | 2 ligose |
| CUL4Bcullin 4B | Labai dažnai (80–99%) | 1 ligoje |
| KCNJ6potassium inwardly rectifying channel subfamily J member 6 | Labai dažnai (80–99%) | 2 ligose |
Rodyti dar 227 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Labai dažnai (80–99%) | 2 ligose |
| NELFAnegative elongation factor complex member A | Labai dažnai (80–99%) | 1 ligoje |
| NEXMIFneurite extension and migration factor | Labai dažnai (80–99%) | 2 ligose |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Labai dažnai (80–99%) | 1 ligoje |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Labai dažnai (80–99%) | 3 ligose |
| POLR3ARNA polymerase III subunit A | Labai dažnai (80–99%) | 1 ligoje |
| RAB18RAB18, member RAS oncogene family | Labai dažnai (80–99%) | 1 ligoje |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Labai dažnai (80–99%) | 2 ligose |
| SH3PXD2BSH3 and PX domains 2B | Labai dažnai (80–99%) | 1 ligoje |
| SRCAPSnf2 related CREBBP activator protein | Labai dažnai (80–99%) | 2 ligose |
| TBC1D20TBC1 domain family member 20 | Labai dažnai (80–99%) | 1 ligoje |
| TCF4transcription factor 4 | Labai dažnai (80–99%) | 2 ligose |
| TFAP2Btranscription factor AP-2 beta | Labai dažnai (80–99%) | 2 ligose |
| TMEM70transmembrane protein 70 | Labai dažnai (80–99%) | 1 ligoje |
| TXNL4Athioredoxin like 4A | Labai dažnai (80–99%) | 1 ligoje |
| ADAMTSL1ADAMTS like 1 | Dažnai (30–79%) | 1 ligoje |
| AFF3ALF transcription elongation factor 3 | Dažnai (30–79%) | 1 ligoje |
| ALX4ALX homeobox 4 | Dažnai (30–79%) | 1 ligoje |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Dažnai (30–79%) | 1 ligoje |
| ARID1AAT-rich interaction domain 1A | Dažnai (30–79%) | 1 ligoje |
| ARID2AT-rich interaction domain 2 | Dažnai (30–79%) | 1 ligoje |
| AUTS2activator of transcription and developmental regulator AUTS2 | Dažnai (30–79%) | 2 ligose |
| BCAS3BCAS3 microtubule associated cell migration factor | Dažnai (30–79%) | 1 ligoje |
| BPTFbromodomain PHD finger transcription factor | Dažnai (30–79%) | 1 ligoje |
| C1GALT1C1C1GALT1 specific chaperone 1 | Dažnai (30–79%) | 1 ligoje |
| CDH11cadherin 11 | Dažnai (30–79%) | 1 ligoje |
| CDONcell adhesion associated, oncogene regulated | Dažnai (30–79%) | 1 ligoje |
| CKAP2Lcytoskeleton associated protein 2L | Dažnai (30–79%) | 2 ligose |
| CRIPTOcripto, EGF-CFC family member | Dažnai (30–79%) | 1 ligoje |
| DISP1dispatched RND transporter family member 1 | Dažnai (30–79%) | 1 ligoje |
| DLL1delta like canonical Notch ligand 1 | Dažnai (30–79%) | 1 ligoje |
| DOCK7dedicator of cytokinesis 7 | Dažnai (30–79%) | 2 ligose |
| DPF2double PHD fingers 2 | Dažnai (30–79%) | 1 ligoje |
| EDEM3ER degradation enhancing alpha-mannosidase like protein 3 | Dažnai (30–79%) | 1 ligoje |
| EMC1ER membrane protein complex subunit 1 | Dažnai (30–79%) | 2 ligose |
| EPB41L1erythrocyte membrane protein band 4.1 like 1 | Dažnai (30–79%) | 1 ligoje |
| EXT2exostosin glycosyltransferase 2 | Dažnai (30–79%) | 1 ligoje |
| FGF8fibroblast growth factor 8 | Dažnai (30–79%) | 1 ligoje |
| FGFR1fibroblast growth factor receptor 1 | Dažnai (30–79%) | 1 ligoje |
| FGFRL1fibroblast growth factor receptor like 1 | Dažnai (30–79%) | 1 ligoje |
| FIG4FIG4 phosphoinositide 5-phosphatase | Dažnai (30–79%) | 2 ligose |
| FOXH1forkhead box H1 | Dažnai (30–79%) | 1 ligoje |
| FOXL2forkhead box L2 | Dažnai (30–79%) | 1 ligoje |
| GAS1growth arrest specific 1 | Dažnai (30–79%) | 1 ligoje |
| GLI2GLI family zinc finger 2 | Dažnai (30–79%) | 2 ligose |
| GON4Lgon-4 like | Dažnai (30–79%) | 1 ligoje |
| H4C9H4 clustered histone 9 | Dažnai (30–79%) | 1 ligoje |
| HIVEP2HIVEP zinc finger 2 | Dažnai (30–79%) | 1 ligoje |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Dažnai (30–79%) | 1 ligoje |
| HOXB1homeobox B1 | Dažnai (30–79%) | 1 ligoje |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Dažnai (30–79%) | 1 ligoje |
| KAT6Alysine acetyltransferase 6A | Dažnai (30–79%) | 1 ligoje |
| KCNK9potassium two pore domain channel subfamily K member 9 | Dažnai (30–79%) | 2 ligose |
| KDF1keratinocyte differentiation factor 1 | Dažnai (30–79%) | 1 ligoje |
| KDM4Blysine demethylase 4B | Dažnai (30–79%) | 1 ligoje |
| KICS2KICSTOR subunit 2 | Dažnai (30–79%) | 1 ligoje |
| KIF7kinesin family member 7 | Dažnai (30–79%) | 1 ligoje |
| LRRC32leucine rich repeat containing 32 | Dažnai (30–79%) | 1 ligoje |
| MAN1B1mannosidase alpha class 1B member 1 | Dažnai (30–79%) | 2 ligose |
| MCTP2multiple C2 and transmembrane domain containing 2 | Dažnai (30–79%) | 1 ligoje |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Dažnai (30–79%) | 1 ligoje |
| MED25mediator complex subunit 25 | Dažnai (30–79%) | 2 ligose |
| MEF2Cmyocyte enhancer factor 2C | Dažnai (30–79%) | 2 ligose |
| MEIS2Meis homeobox 2 | Dažnai (30–79%) | 1 ligoje |
| NFIXnuclear factor I X | Dažnai (30–79%) | 2 ligose |
| NKAPNFKB activating protein | Dažnai (30–79%) | 1 ligoje |
| NODALnodal growth differentiation factor | Dažnai (30–79%) | 1 ligoje |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Dažnai (30–79%) | 1 ligoje |
| NSRP1nuclear speckle splicing regulatory protein 1 | Dažnai (30–79%) | 1 ligoje |
| PDE4Dphosphodiesterase 4D | Dažnai (30–79%) | 1 ligoje |
| PHF21APHD finger protein 21A | Dažnai (30–79%) | 1 ligoje |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Dažnai (30–79%) | 1 ligoje |
| POGZpogo transposable element derived with ZNF domain | Dažnai (30–79%) | 2 ligose |
| PQBP1polyglutamine binding protein 1 | Dažnai (30–79%) | 2 ligose |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Dažnai (30–79%) | 1 ligoje |
| PSMC3proteasome 26S subunit, ATPase 3 | Dažnai (30–79%) | 1 ligoje |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Dažnai (30–79%) | 1 ligoje |
| PTCH1patched 1 | Dažnai (30–79%) | 1 ligoje |
| PUS7pseudouridine synthase 7 | Dažnai (30–79%) | 1 ligoje |
| RAI1retinoic acid induced 1 | Dažnai (30–79%) | 1 ligoje |
| RNF2ring finger protein 2 | Dažnai (30–79%) | 1 ligoje |
| SHHsonic hedgehog signaling molecule | Dažnai (30–79%) | 1 ligoje |
| SIX3SIX homeobox 3 | Dažnai (30–79%) | 1 ligoje |
| SLC35A2solute carrier family 35 member A2 | Dažnai (30–79%) | 1 ligoje |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Dažnai (30–79%) | 1 ligoje |
| SOX11SRY-box transcription factor 11 | Dažnai (30–79%) | 1 ligoje |
| STIM1stromal interaction molecule 1 | Dažnai (30–79%) | 1 ligoje |
| SUFUSUFU negative regulator of hedgehog signaling | Dažnai (30–79%) | 1 ligoje |
| TBR1T-box brain transcription factor 1 | Dažnai (30–79%) | 1 ligoje |
| TGIF1TGFB induced factor homeobox 1 | Dažnai (30–79%) | 1 ligoje |
| TMLHEtrimethyllysine hydroxylase, epsilon | Dažnai (30–79%) | 1 ligoje |
| TRAPPC9trafficking protein particle complex subunit 9 | Dažnai (30–79%) | 1 ligoje |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Dažnai (30–79%) | 1 ligoje |
| TWIST1twist family bHLH transcription factor 1 | Dažnai (30–79%) | 1 ligoje |
| TWIST2twist family bHLH transcription factor 2 | Dažnai (30–79%) | 1 ligoje |
| UBE3Bubiquitin protein ligase E3B | Dažnai (30–79%) | 1 ligoje |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Dažnai (30–79%) | 1 ligoje |
| VAC14VAC14 component of PIKFYVE complex | Dažnai (30–79%) | 1 ligoje |
| VPS51VPS51 subunit of GARP complex | Dažnai (30–79%) | 1 ligoje |
| WBP4WW domain binding protein 4 | Dažnai (30–79%) | 1 ligoje |
| WDR26WD repeat domain 26 | Dažnai (30–79%) | 1 ligoje |
| ZDHHC9zDHHC palmitoyltransferase 9 | Dažnai (30–79%) | 1 ligoje |
| ZEB2zinc finger E-box binding homeobox 2 | Dažnai (30–79%) | 2 ligose |
| ZIC2Zic family zinc finger 2 | Dažnai (30–79%) | 1 ligoje |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Kartais (5–29%) | 1 ligoje |
| AHDC1AT-hook DNA binding motif containing 1 | Kartais (5–29%) | 1 ligoje |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Kartais (5–29%) | 2 ligose |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Kartais (5–29%) | 2 ligose |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Kartais (5–29%) | 2 ligose |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Kartais (5–29%) | 2 ligose |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Kartais (5–29%) | 2 ligose |
| APCAPC regulator of Wnt signaling pathway | Kartais (5–29%) | 1 ligoje |
| ARVCFARVCF delta catenin family member | Kartais (5–29%) | 1 ligoje |
| ATXN7L3ataxin 7 like 3 | Kartais (5–29%) | 1 ligoje |
| CCBE1collagen and calcium binding EGF domains 1 | Kartais (5–29%) | 1 ligoje |
| CDC42BPBCDC42 binding protein kinase beta | Kartais (5–29%) | 1 ligoje |
| CDH2cadherin 2 | Kartais (5–29%) | 1 ligoje |
| CDK13cyclin dependent kinase 13 | Kartais (5–29%) | 1 ligoje |
| CHD5chromodomain helicase DNA binding protein 5 | Kartais (5–29%) | 1 ligoje |
| CLCN3Cl-/H+ antiporter 3 | Kartais (5–29%) | 1 ligoje |
| CNOT3CCR4-NOT transcription complex subunit 3 | Kartais (5–29%) | 1 ligoje |
| COMTcatechol-O-methyltransferase | Kartais (5–29%) | 1 ligoje |
| CREBBPCREB binding lysine acetyltransferase | Kartais (5–29%) | 1 ligoje |
| CRELD1CRELD disulfide isomerase 1 | Kartais (5–29%) | 1 ligoje |
| CTCFCCCTC-binding factor | Kartais (5–29%) | 2 ligose |
| DHX37DEAH-box helicase 37 | Kartais (5–29%) | 1 ligoje |
| DLK1delta like non-canonical Notch ligand 1 | Kartais (5–29%) | 3 ligose |
| DPYSL5dihydropyrimidinase like 5 | Kartais (5–29%) | 1 ligoje |
| DVL1dishevelled segment polarity protein 1 | Kartais (5–29%) | 1 ligoje |
| DVL3dishevelled segment polarity protein 3 | Kartais (5–29%) | 1 ligoje |
| ERLIN2ER lipid raft associated 2 | Kartais (5–29%) | 2 ligose |
| FAT4FAT atypical cadherin 4 | Kartais (5–29%) | 1 ligoje |
| FBXO11F-box protein 11 | Kartais (5–29%) | 1 ligoje |
| FEM1Bfem-1 homolog B | Kartais (5–29%) | 1 ligoje |
| FRYLFRY like transcription coactivator | Kartais (5–29%) | 1 ligoje |
| FZD2frizzled class receptor 2 | Kartais (5–29%) | 1 ligoje |
| GNB1G protein subunit beta 1 | Kartais (5–29%) | 1 ligoje |
| GP1BBglycoprotein Ib platelet subunit beta | Kartais (5–29%) | 1 ligoje |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Kartais (5–29%) | 1 ligoje |
| GRIA4glutamate ionotropic receptor AMPA type subunit 4 | Kartais (5–29%) | 1 ligoje |
| H4C5H4 clustered histone 5 | Kartais (5–29%) | 1 ligoje |
| HDAC6histone deacetylase 6 | Kartais (5–29%) | 1 ligoje |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Kartais (5–29%) | 1 ligoje |
| HIRAhistone cell cycle regulator | Kartais (5–29%) | 1 ligoje |
| JARID2jumonji and AT-rich interaction domain containing 2 | Kartais (5–29%) | 1 ligoje |
| JMJD1Cjumonji domain containing 1C | Kartais (5–29%) | 1 ligoje |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Kartais (5–29%) | 1 ligoje |
| KIF26Akinesin family member 26A | Kartais (5–29%) | 1 ligoje |
| LRP4LDL receptor related protein 4 | Kartais (5–29%) | 1 ligoje |
| MADDMAP kinase activating death domain | Kartais (5–29%) | 1 ligoje |
| MARK2microtubule affinity regulating kinase 2 | Kartais (5–29%) | 1 ligoje |
| MED12Lmediator complex subunit 12L | Kartais (5–29%) | 1 ligoje |
| MEG3maternally expressed 3 | Kartais (5–29%) | 3 ligose |
| MID2midline 2 | Kartais (5–29%) | 1 ligoje |
| MTX2metaxin 2 | Kartais (5–29%) | 1 ligoje |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Kartais (5–29%) | 1 ligoje |
| NXNnucleoredoxin | Kartais (5–29%) | 1 ligoje |
| PCDHGC4protocadherin gamma subfamily C, 4 | Kartais (5–29%) | 1 ligoje |
| PGAP2post-GPI attachment to proteins 2 | Kartais (5–29%) | 1 ligoje |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Kartais (5–29%) | 1 ligoje |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Kartais (5–29%) | 1 ligoje |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Kartais (5–29%) | 2 ligose |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Kartais (5–29%) | 1 ligoje |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Kartais (5–29%) | 1 ligoje |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Kartais (5–29%) | 1 ligoje |
| PPP2CAprotein phosphatase 2 catalytic subunit alpha | Kartais (5–29%) | 1 ligoje |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Kartais (5–29%) | 1 ligoje |
| PRKACBprotein kinase cAMP-activated catalytic subunit beta | Kartais (5–29%) | 1 ligoje |
| RNU4-2RNA, U4 small nuclear 2 | Kartais (5–29%) | 1 ligoje |
| RNU4ATACRNA, U4atac small nuclear | Kartais (5–29%) | 1 ligoje |
| ROR2ROR family WNT receptor 2 | Kartais (5–29%) | 2 ligose |
| RREB1ras responsive element binding protein 1 | Kartais (5–29%) | 1 ligoje |
| RTL1retrotransposon Gag like 1 | Kartais (5–29%) | 3 ligose |
| SATB2SATB homeobox 2 | Kartais (5–29%) | 1 ligoje |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Kartais (5–29%) | 1 ligoje |
| SEC24CSEC24 homolog C, COPII component | Kartais (5–29%) | 1 ligoje |
| SHMT2serine hydroxymethyltransferase 2 | Kartais (5–29%) | 1 ligoje |
| SIN3ASIN3 transcription regulator family member A | Kartais (5–29%) | 1 ligoje |
| SLC6A1solute carrier family 6 member 1 | Kartais (5–29%) | 1 ligoje |
| SLC6A11solute carrier family 6 member 11 | Kartais (5–29%) | 1 ligoje |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Kartais (5–29%) | 1 ligoje |
| SMC1Astructural maintenance of chromosomes 1A | Kartais (5–29%) | 1 ligoje |
| SMPD4sphingomyelin phosphodiesterase 4 | Kartais (5–29%) | 1 ligoje |
| SONSON DNA and RNA binding protein | Kartais (5–29%) | 2 ligose |
| SPENspen family transcriptional repressor | Kartais (5–29%) | 1 ligoje |
| TAOK1TAO kinase 1 | Kartais (5–29%) | 1 ligoje |
| TBX1T-box transcription factor 1 | Kartais (5–29%) | 2 ligose |
| TCTN3tectonic family member 3 | Kartais (5–29%) | 1 ligoje |
| TMEM94transmembrane protein 94 | Kartais (5–29%) | 1 ligoje |
| TRIOtrio Rho guanine nucleotide exchange factor | Kartais (5–29%) | 1 ligoje |
| TRIP12thyroid hormone receptor interactor 12 | Kartais (5–29%) | 1 ligoje |
| TRMT10AtRNA methyltransferase 10A | Kartais (5–29%) | 1 ligoje |
| TTC5tetratricopeptide repeat domain 5 | Kartais (5–29%) | 1 ligoje |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Kartais (5–29%) | 1 ligoje |
| WNT4Wnt family member 4 | Kartais (5–29%) | 1 ligoje |
| WNT5AWnt family member 5A | Kartais (5–29%) | 1 ligoje |
| ZNF292zinc finger protein 292 | Kartais (5–29%) | 1 ligoje |
| ACBD6acyl-CoA binding domain containing 6 | Retai (1–4 %) | 1 ligoje |
| ANKRD17ankyrin repeat domain 17 | Retai (1–4 %) | 1 ligoje |
| CNTNAP2contactin associated protein 2 | Retai (1–4 %) | 1 ligoje |
| SETBP1SET binding protein 1 | Retai (1–4 %) | 1 ligoje |
| SMSspermine synthase | Retai (1–4 %) | 2 ligose |
| SPTBN1spectrin beta, non-erythrocytic 1 | Retai (1–4 %) | 1 ligoje |
| ARID1BAT-rich interaction domain 1B | Neužfiksuota | 1 ligoje |
| BCL11BBCL11 transcription factor B | Neužfiksuota | 1 ligoje |
| COL3A1collagen type III alpha 1 chain | Neužfiksuota | 1 ligoje |
| FREM1FRAS1 related extracellular matrix 1 | Neužfiksuota | 1 ligoje |
| GALNT2polypeptide N-acetylgalactosaminyltransferase 2 | Neužfiksuota | 1 ligoje |
| IFT57intraflagellar transport 57 | Neužfiksuota | 1 ligoje |
| KIFBPkinesin family binding protein | Neužfiksuota | 1 ligoje |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Neužfiksuota | 1 ligoje |
| NOGnoggin | Neužfiksuota | 1 ligoje |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Neužfiksuota | 1 ligoje |
| OPHN1oligophrenin 1 | Neužfiksuota | 1 ligoje |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Neužfiksuota | 1 ligoje |
| PITX2paired like homeodomain 2 | Neužfiksuota | 1 ligoje |
| RALARAS like proto-oncogene A | Neužfiksuota | 1 ligoje |
| RUNX2RUNX family transcription factor 2 | Neužfiksuota | 1 ligoje |
| SLC35A1solute carrier family 35 member A1 | Neužfiksuota | 1 ligoje |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Neužfiksuota | 1 ligoje |
| STAG2STAG2 cohesin complex component | Neužfiksuota | 1 ligoje |
| TALDO1transaldolase 1 | Neužfiksuota | 1 ligoje |
| TMEM237transmembrane protein 237 | Neužfiksuota | 1 ligoje |
| TNPO2transportin 2 | Neužfiksuota | 1 ligoje |
| TRRAPtransformation/transcription domain associated protein | Neužfiksuota | 1 ligoje |
| UNC80unc-80 subunit of NALCN channel complex | 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.
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- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
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