Træk
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.
Resumé
- Også kaldet
- Decreased height of philtrum, Decreased length of philtrum, Decreased vertical dimension of philtrum, Vertical hypoplasia of philtrum
- Kropssystem
- Abnormality of head or neck
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
Read the genes linked to Short philtrum, and the rest of your genome, with one test.
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Bestil min Genome Test267 gener knyttet til Short philtrum
Ændringer i disse gener forårsager sjældne tilstande, hvor Short philtrum ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Altid | I 1 tilstand |
| ASH1LASH1 like histone lysine methyltransferase | Altid | I 1 tilstand |
| CCDC22CCC complex scaffolding subunit CCDC22 | Altid | I 1 tilstand |
| CDC42cell division cycle 42 | Altid | I 2 tilstande |
| CHAMP1chromosome alignment maintaining phosphoprotein 1 | Altid | I 1 tilstand |
| DENND5ADENN domain containing 5A | Altid | I 1 tilstand |
| EIF4A2eukaryotic translation initiation factor 4A2 | Altid | I 1 tilstand |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Altid | I 1 tilstand |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Altid | I 1 tilstand |
| GATAD2BGATA zinc finger domain containing 2B | Altid | I 2 tilstande |
| GMPPAGDP-mannose pyrophosphorylase A | Altid | I 1 tilstand |
| H4C11H4 clustered histone 11 | Altid | I 1 tilstand |
| IKZF2IKAROS family zinc finger 2 | Altid | I 1 tilstand |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Altid | I 1 tilstand |
| IREB2iron responsive element binding protein 2 | Altid | I 1 tilstand |
| ITCHitchy E3 ubiquitin protein ligase | Altid | I 1 tilstand |
| JKAMPJNK1/MAPK8 associated membrane protein | Altid | I 1 tilstand |
| KCNK4potassium two pore domain channel subfamily K member 4 | Altid | I 1 tilstand |
| KDM6Blysine demethylase 6B | Altid | I 1 tilstand |
| KIDINS220kinase D interacting substrate 220 | Altid | I 1 tilstand |
| LARP7La ribonucleoprotein 7, transcriptional regulator | Altid | I 2 tilstande |
| MED12mediator complex subunit 12 | Altid | I 2 tilstande |
| NONOnon-POU domain containing octamer binding | Altid | I 2 tilstande |
| NSD2nuclear receptor binding SET domain protein 2 | Altid | I 3 tilstande |
| PTH1Rparathyroid hormone 1 receptor | Altid | I 1 tilstand |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Altid | I 3 tilstande |
| RAP1GDS1Rap1 GTPase-GDP dissociation stimulator 1 | Altid | I 1 tilstand |
| SMAD4SMAD family member 4 | Altid | I 1 tilstand |
| SPOUT1SPOUT domain containing methyltransferase 1 | Altid | I 1 tilstand |
| TAF4TATA-box binding protein associated factor 4 | Altid | I 1 tilstand |
| TCF3transcription factor 3 | Altid | I 1 tilstand |
| TSPAN7tetraspanin 7 | Altid | I 1 tilstand |
| VPS13Bvacuolar protein sorting 13 homolog B | Altid | I 2 tilstande |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Altid | I 1 tilstand |
| WLSWnt ligand secretion mediator | Altid | I 1 tilstand |
| ZBTB18zinc finger and BTB domain containing 18 | Altid | I 1 tilstand |
| CPLX1complexin 1 | Meget ofte (80–99 %) | I 2 tilstande |
| CTBP1C-terminal binding protein 1 | Meget ofte (80–99 %) | I 2 tilstande |
| CUL4Bcullin 4B | Meget ofte (80–99 %) | I 1 tilstand |
| KCNJ6potassium inwardly rectifying channel subfamily J member 6 | Meget ofte (80–99 %) | I 2 tilstande |
Vis 227 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Meget ofte (80–99 %) | I 2 tilstande |
| NELFAnegative elongation factor complex member A | Meget ofte (80–99 %) | I 1 tilstand |
| NEXMIFneurite extension and migration factor | Meget ofte (80–99 %) | I 2 tilstande |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Meget ofte (80–99 %) | I 1 tilstand |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Meget ofte (80–99 %) | I 3 tilstande |
| POLR3ARNA polymerase III subunit A | Meget ofte (80–99 %) | I 1 tilstand |
| RAB18RAB18, member RAS oncogene family | Meget ofte (80–99 %) | I 1 tilstand |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Meget ofte (80–99 %) | I 2 tilstande |
| SH3PXD2BSH3 and PX domains 2B | Meget ofte (80–99 %) | I 1 tilstand |
| SRCAPSnf2 related CREBBP activator protein | Meget ofte (80–99 %) | I 2 tilstande |
| TBC1D20TBC1 domain family member 20 | Meget ofte (80–99 %) | I 1 tilstand |
| TCF4transcription factor 4 | Meget ofte (80–99 %) | I 2 tilstande |
| TFAP2Btranscription factor AP-2 beta | Meget ofte (80–99 %) | I 2 tilstande |
| TMEM70transmembrane protein 70 | Meget ofte (80–99 %) | I 1 tilstand |
| TXNL4Athioredoxin like 4A | Meget ofte (80–99 %) | I 1 tilstand |
| ADAMTSL1ADAMTS like 1 | Ofte (30–79 %) | I 1 tilstand |
| AFF3ALF transcription elongation factor 3 | Ofte (30–79 %) | I 1 tilstand |
| ALX4ALX homeobox 4 | Ofte (30–79 %) | I 1 tilstand |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Ofte (30–79 %) | I 1 tilstand |
| ARID1AAT-rich interaction domain 1A | Ofte (30–79 %) | I 1 tilstand |
| ARID2AT-rich interaction domain 2 | Ofte (30–79 %) | I 1 tilstand |
| AUTS2activator of transcription and developmental regulator AUTS2 | Ofte (30–79 %) | I 2 tilstande |
| BCAS3BCAS3 microtubule associated cell migration factor | Ofte (30–79 %) | I 1 tilstand |
| BPTFbromodomain PHD finger transcription factor | Ofte (30–79 %) | I 1 tilstand |
| C1GALT1C1C1GALT1 specific chaperone 1 | Ofte (30–79 %) | I 1 tilstand |
| CDH11cadherin 11 | Ofte (30–79 %) | I 1 tilstand |
| CDONcell adhesion associated, oncogene regulated | Ofte (30–79 %) | I 1 tilstand |
| CKAP2Lcytoskeleton associated protein 2L | Ofte (30–79 %) | I 2 tilstande |
| CRIPTOcripto, EGF-CFC family member | Ofte (30–79 %) | I 1 tilstand |
| DISP1dispatched RND transporter family member 1 | Ofte (30–79 %) | I 1 tilstand |
| DLL1delta like canonical Notch ligand 1 | Ofte (30–79 %) | I 1 tilstand |
| DOCK7dedicator of cytokinesis 7 | Ofte (30–79 %) | I 2 tilstande |
| DPF2double PHD fingers 2 | Ofte (30–79 %) | I 1 tilstand |
| EDEM3ER degradation enhancing alpha-mannosidase like protein 3 | Ofte (30–79 %) | I 1 tilstand |
| EMC1ER membrane protein complex subunit 1 | Ofte (30–79 %) | I 2 tilstande |
| EPB41L1erythrocyte membrane protein band 4.1 like 1 | Ofte (30–79 %) | I 1 tilstand |
| EXT2exostosin glycosyltransferase 2 | Ofte (30–79 %) | I 1 tilstand |
| FGF8fibroblast growth factor 8 | Ofte (30–79 %) | I 1 tilstand |
| FGFR1fibroblast growth factor receptor 1 | Ofte (30–79 %) | I 1 tilstand |
| FGFRL1fibroblast growth factor receptor like 1 | Ofte (30–79 %) | I 1 tilstand |
| FIG4FIG4 phosphoinositide 5-phosphatase | Ofte (30–79 %) | I 2 tilstande |
| FOXH1forkhead box H1 | Ofte (30–79 %) | I 1 tilstand |
| FOXL2forkhead box L2 | Ofte (30–79 %) | I 1 tilstand |
| GAS1growth arrest specific 1 | Ofte (30–79 %) | I 1 tilstand |
| GLI2GLI family zinc finger 2 | Ofte (30–79 %) | I 2 tilstande |
| GON4Lgon-4 like | Ofte (30–79 %) | I 1 tilstand |
| H4C9H4 clustered histone 9 | Ofte (30–79 %) | I 1 tilstand |
| HIVEP2HIVEP zinc finger 2 | Ofte (30–79 %) | I 1 tilstand |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Ofte (30–79 %) | I 1 tilstand |
| HOXB1homeobox B1 | Ofte (30–79 %) | I 1 tilstand |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Ofte (30–79 %) | I 1 tilstand |
| KAT6Alysine acetyltransferase 6A | Ofte (30–79 %) | I 1 tilstand |
| KCNK9potassium two pore domain channel subfamily K member 9 | Ofte (30–79 %) | I 2 tilstande |
| KDF1keratinocyte differentiation factor 1 | Ofte (30–79 %) | I 1 tilstand |
| KDM4Blysine demethylase 4B | Ofte (30–79 %) | I 1 tilstand |
| KICS2KICSTOR subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| KIF7kinesin family member 7 | Ofte (30–79 %) | I 1 tilstand |
| LRRC32leucine rich repeat containing 32 | Ofte (30–79 %) | I 1 tilstand |
| MAN1B1mannosidase alpha class 1B member 1 | Ofte (30–79 %) | I 2 tilstande |
| MCTP2multiple C2 and transmembrane domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Ofte (30–79 %) | I 1 tilstand |
| MED25mediator complex subunit 25 | Ofte (30–79 %) | I 2 tilstande |
| MEF2Cmyocyte enhancer factor 2C | Ofte (30–79 %) | I 2 tilstande |
| MEIS2Meis homeobox 2 | Ofte (30–79 %) | I 1 tilstand |
| NFIXnuclear factor I X | Ofte (30–79 %) | I 2 tilstande |
| NKAPNFKB activating protein | Ofte (30–79 %) | I 1 tilstand |
| NODALnodal growth differentiation factor | Ofte (30–79 %) | I 1 tilstand |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Ofte (30–79 %) | I 1 tilstand |
| NSRP1nuclear speckle splicing regulatory protein 1 | Ofte (30–79 %) | I 1 tilstand |
| PDE4Dphosphodiesterase 4D | Ofte (30–79 %) | I 1 tilstand |
| PHF21APHD finger protein 21A | Ofte (30–79 %) | I 1 tilstand |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Ofte (30–79 %) | I 1 tilstand |
| POGZpogo transposable element derived with ZNF domain | Ofte (30–79 %) | I 2 tilstande |
| PQBP1polyglutamine binding protein 1 | Ofte (30–79 %) | I 2 tilstande |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| PSMC3proteasome 26S subunit, ATPase 3 | Ofte (30–79 %) | I 1 tilstand |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Ofte (30–79 %) | I 1 tilstand |
| PTCH1patched 1 | Ofte (30–79 %) | I 1 tilstand |
| PUS7pseudouridine synthase 7 | Ofte (30–79 %) | I 1 tilstand |
| RAI1retinoic acid induced 1 | Ofte (30–79 %) | I 1 tilstand |
| RNF2ring finger protein 2 | Ofte (30–79 %) | I 1 tilstand |
| SHHsonic hedgehog signaling molecule | Ofte (30–79 %) | I 1 tilstand |
| SIX3SIX homeobox 3 | Ofte (30–79 %) | I 1 tilstand |
| SLC35A2solute carrier family 35 member A2 | Ofte (30–79 %) | I 1 tilstand |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Ofte (30–79 %) | I 1 tilstand |
| SOX11SRY-box transcription factor 11 | Ofte (30–79 %) | I 1 tilstand |
| STIM1stromal interaction molecule 1 | Ofte (30–79 %) | I 1 tilstand |
| SUFUSUFU negative regulator of hedgehog signaling | Ofte (30–79 %) | I 1 tilstand |
| TBR1T-box brain transcription factor 1 | Ofte (30–79 %) | I 1 tilstand |
| TGIF1TGFB induced factor homeobox 1 | Ofte (30–79 %) | I 1 tilstand |
| TMLHEtrimethyllysine hydroxylase, epsilon | Ofte (30–79 %) | I 1 tilstand |
| TRAPPC9trafficking protein particle complex subunit 9 | Ofte (30–79 %) | I 1 tilstand |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Ofte (30–79 %) | I 1 tilstand |
| TWIST1twist family bHLH transcription factor 1 | Ofte (30–79 %) | I 1 tilstand |
| TWIST2twist family bHLH transcription factor 2 | Ofte (30–79 %) | I 1 tilstand |
| UBE3Bubiquitin protein ligase E3B | Ofte (30–79 %) | I 1 tilstand |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Ofte (30–79 %) | I 1 tilstand |
| VAC14VAC14 component of PIKFYVE complex | Ofte (30–79 %) | I 1 tilstand |
| VPS51VPS51 subunit of GARP complex | Ofte (30–79 %) | I 1 tilstand |
| WBP4WW domain binding protein 4 | Ofte (30–79 %) | I 1 tilstand |
| WDR26WD repeat domain 26 | Ofte (30–79 %) | I 1 tilstand |
| ZDHHC9zDHHC palmitoyltransferase 9 | Ofte (30–79 %) | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Ofte (30–79 %) | I 2 tilstande |
| ZIC2Zic family zinc finger 2 | Ofte (30–79 %) | I 1 tilstand |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Nogle gange (5–29 %) | I 1 tilstand |
| AHDC1AT-hook DNA binding motif containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Nogle gange (5–29 %) | I 2 tilstande |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Nogle gange (5–29 %) | I 2 tilstande |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Nogle gange (5–29 %) | I 2 tilstande |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Nogle gange (5–29 %) | I 2 tilstande |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Nogle gange (5–29 %) | I 2 tilstande |
| APCAPC regulator of Wnt signaling pathway | Nogle gange (5–29 %) | I 1 tilstand |
| ARVCFARVCF delta catenin family member | Nogle gange (5–29 %) | I 1 tilstand |
| ATXN7L3ataxin 7 like 3 | Nogle gange (5–29 %) | I 1 tilstand |
| CCBE1collagen and calcium binding EGF domains 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CDC42BPBCDC42 binding protein kinase beta | Nogle gange (5–29 %) | I 1 tilstand |
| CDH2cadherin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CDK13cyclin dependent kinase 13 | Nogle gange (5–29 %) | I 1 tilstand |
| CHD5chromodomain helicase DNA binding protein 5 | Nogle gange (5–29 %) | I 1 tilstand |
| CLCN3Cl-/H+ antiporter 3 | Nogle gange (5–29 %) | I 1 tilstand |
| CNOT3CCR4-NOT transcription complex subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| COMTcatechol-O-methyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| CRELD1CRELD disulfide isomerase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CTCFCCCTC-binding factor | Nogle gange (5–29 %) | I 2 tilstande |
| DHX37DEAH-box helicase 37 | Nogle gange (5–29 %) | I 1 tilstand |
| DLK1delta like non-canonical Notch ligand 1 | Nogle gange (5–29 %) | I 3 tilstande |
| DPYSL5dihydropyrimidinase like 5 | Nogle gange (5–29 %) | I 1 tilstand |
| DVL1dishevelled segment polarity protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DVL3dishevelled segment polarity protein 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ERLIN2ER lipid raft associated 2 | Nogle gange (5–29 %) | I 2 tilstande |
| FAT4FAT atypical cadherin 4 | Nogle gange (5–29 %) | I 1 tilstand |
| FBXO11F-box protein 11 | Nogle gange (5–29 %) | I 1 tilstand |
| FEM1Bfem-1 homolog B | Nogle gange (5–29 %) | I 1 tilstand |
| FRYLFRY like transcription coactivator | Nogle gange (5–29 %) | I 1 tilstand |
| FZD2frizzled class receptor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GNB1G protein subunit beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GP1BBglycoprotein Ib platelet subunit beta | Nogle gange (5–29 %) | I 1 tilstand |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| GRIA4glutamate ionotropic receptor AMPA type subunit 4 | Nogle gange (5–29 %) | I 1 tilstand |
| H4C5H4 clustered histone 5 | Nogle gange (5–29 %) | I 1 tilstand |
| HDAC6histone deacetylase 6 | Nogle gange (5–29 %) | I 1 tilstand |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Nogle gange (5–29 %) | I 1 tilstand |
| HIRAhistone cell cycle regulator | Nogle gange (5–29 %) | I 1 tilstand |
| JARID2jumonji and AT-rich interaction domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| JMJD1Cjumonji domain containing 1C | Nogle gange (5–29 %) | I 1 tilstand |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KIF26Akinesin family member 26A | Nogle gange (5–29 %) | I 1 tilstand |
| LRP4LDL receptor related protein 4 | Nogle gange (5–29 %) | I 1 tilstand |
| MADDMAP kinase activating death domain | Nogle gange (5–29 %) | I 1 tilstand |
| MARK2microtubule affinity regulating kinase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MED12Lmediator complex subunit 12L | Nogle gange (5–29 %) | I 1 tilstand |
| MEG3maternally expressed 3 | Nogle gange (5–29 %) | I 3 tilstande |
| MID2midline 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MTX2metaxin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| NXNnucleoredoxin | Nogle gange (5–29 %) | I 1 tilstand |
| PCDHGC4protocadherin gamma subfamily C, 4 | Nogle gange (5–29 %) | I 1 tilstand |
| PGAP2post-GPI attachment to proteins 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Nogle gange (5–29 %) | I 1 tilstand |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Nogle gange (5–29 %) | I 2 tilstande |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Nogle gange (5–29 %) | I 1 tilstand |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Nogle gange (5–29 %) | I 1 tilstand |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Nogle gange (5–29 %) | I 1 tilstand |
| PPP2CAprotein phosphatase 2 catalytic subunit alpha | Nogle gange (5–29 %) | I 1 tilstand |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Nogle gange (5–29 %) | I 1 tilstand |
| PRKACBprotein kinase cAMP-activated catalytic subunit beta | Nogle gange (5–29 %) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RNU4ATACRNA, U4atac small nuclear | Nogle gange (5–29 %) | I 1 tilstand |
| ROR2ROR family WNT receptor 2 | Nogle gange (5–29 %) | I 2 tilstande |
| RREB1ras responsive element binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RTL1retrotransposon Gag like 1 | Nogle gange (5–29 %) | I 3 tilstande |
| SATB2SATB homeobox 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SEC24CSEC24 homolog C, COPII component | Nogle gange (5–29 %) | I 1 tilstand |
| SHMT2serine hydroxymethyltransferase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SIN3ASIN3 transcription regulator family member A | Nogle gange (5–29 %) | I 1 tilstand |
| SLC6A1solute carrier family 6 member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC6A11solute carrier family 6 member 11 | Nogle gange (5–29 %) | I 1 tilstand |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Nogle gange (5–29 %) | I 1 tilstand |
| SMPD4sphingomyelin phosphodiesterase 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SONSON DNA and RNA binding protein | Nogle gange (5–29 %) | I 2 tilstande |
| SPENspen family transcriptional repressor | Nogle gange (5–29 %) | I 1 tilstand |
| TAOK1TAO kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TBX1T-box transcription factor 1 | Nogle gange (5–29 %) | I 2 tilstande |
| TCTN3tectonic family member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM94transmembrane protein 94 | Nogle gange (5–29 %) | I 1 tilstand |
| TRIOtrio Rho guanine nucleotide exchange factor | Nogle gange (5–29 %) | I 1 tilstand |
| TRIP12thyroid hormone receptor interactor 12 | Nogle gange (5–29 %) | I 1 tilstand |
| TRMT10AtRNA methyltransferase 10A | Nogle gange (5–29 %) | I 1 tilstand |
| TTC5tetratricopeptide repeat domain 5 | Nogle gange (5–29 %) | I 1 tilstand |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Nogle gange (5–29 %) | I 1 tilstand |
| WNT4Wnt family member 4 | Nogle gange (5–29 %) | I 1 tilstand |
| WNT5AWnt family member 5A | Nogle gange (5–29 %) | I 1 tilstand |
| ZNF292zinc finger protein 292 | Nogle gange (5–29 %) | I 1 tilstand |
| ACBD6acyl-CoA binding domain containing 6 | Sjældent (1–4%) | I 1 tilstand |
| ANKRD17ankyrin repeat domain 17 | Sjældent (1–4%) | I 1 tilstand |
| CNTNAP2contactin associated protein 2 | Sjældent (1–4%) | I 1 tilstand |
| SETBP1SET binding protein 1 | Sjældent (1–4%) | I 1 tilstand |
| SMSspermine synthase | Sjældent (1–4%) | I 2 tilstande |
| SPTBN1spectrin beta, non-erythrocytic 1 | Sjældent (1–4%) | I 1 tilstand |
| ARID1BAT-rich interaction domain 1B | Ikke registreret | I 1 tilstand |
| BCL11BBCL11 transcription factor B | Ikke registreret | I 1 tilstand |
| COL3A1collagen type III alpha 1 chain | Ikke registreret | I 1 tilstand |
| FREM1FRAS1 related extracellular matrix 1 | Ikke registreret | I 1 tilstand |
| GALNT2polypeptide N-acetylgalactosaminyltransferase 2 | Ikke registreret | I 1 tilstand |
| IFT57intraflagellar transport 57 | Ikke registreret | I 1 tilstand |
| KIFBPkinesin family binding protein | Ikke registreret | I 1 tilstand |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Ikke registreret | I 1 tilstand |
| NOGnoggin | Ikke registreret | I 1 tilstand |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Ikke registreret | I 1 tilstand |
| OPHN1oligophrenin 1 | Ikke registreret | I 1 tilstand |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Ikke registreret | I 1 tilstand |
| PITX2paired like homeodomain 2 | Ikke registreret | I 1 tilstand |
| RALARAS like proto-oncogene A | Ikke registreret | I 1 tilstand |
| RUNX2RUNX family transcription factor 2 | Ikke registreret | I 1 tilstand |
| SLC35A1solute carrier family 35 member A1 | Ikke registreret | I 1 tilstand |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Ikke registreret | I 1 tilstand |
| STAG2STAG2 cohesin complex component | Ikke registreret | I 1 tilstand |
| TALDO1transaldolase 1 | Ikke registreret | I 1 tilstand |
| TMEM237transmembrane protein 237 | Ikke registreret | I 1 tilstand |
| TNPO2transportin 2 | Ikke registreret | I 1 tilstand |
| TRRAPtransformation/transcription domain associated protein | Ikke registreret | I 1 tilstand |
| UNC80unc-80 subunit of NALCN channel complex | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
Bredere træk
Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger