Cecha
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.
Podsumowanie
- Znana także jako
- Decreased height of philtrum, Decreased length of philtrum, Decreased vertical dimension of philtrum, Vertical hypoplasia of philtrum
- Układ organizmu
- Abnormality of head or neck
Genom referencyjnyGRCh38hg38
Pozycje na stronach genów i wariantów zależą od tego wyboru, w tej przeglądarce.
Read the genes linked to Short philtrum, and the rest of your genome, with one test.
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Zamawiam Genome Test267 genów powiązanych z Short philtrum
Zmiany w tych genach powodują rzadkie choroby, w których występuje Short philtrum. Większość osób z tą cechą nie ma żadnej z tych chorób, a gen z tej listy nic nie mówi o czyimkolwiek własnym genomie.
| Gen | Jak często występuje | Choroby |
|---|---|---|
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Zawsze | W 1 chorobie |
| ASH1LASH1 like histone lysine methyltransferase | Zawsze | W 1 chorobie |
| CCDC22CCC complex scaffolding subunit CCDC22 | Zawsze | W 1 chorobie |
| CDC42cell division cycle 42 | Zawsze | W 2 chorobach |
| CHAMP1chromosome alignment maintaining phosphoprotein 1 | Zawsze | W 1 chorobie |
| DENND5ADENN domain containing 5A | Zawsze | W 1 chorobie |
| EIF4A2eukaryotic translation initiation factor 4A2 | Zawsze | W 1 chorobie |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Zawsze | W 1 chorobie |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Zawsze | W 1 chorobie |
| GATAD2BGATA zinc finger domain containing 2B | Zawsze | W 2 chorobach |
| GMPPAGDP-mannose pyrophosphorylase A | Zawsze | W 1 chorobie |
| H4C11H4 clustered histone 11 | Zawsze | W 1 chorobie |
| IKZF2IKAROS family zinc finger 2 | Zawsze | W 1 chorobie |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Zawsze | W 1 chorobie |
| IREB2iron responsive element binding protein 2 | Zawsze | W 1 chorobie |
| ITCHitchy E3 ubiquitin protein ligase | Zawsze | W 1 chorobie |
| JKAMPJNK1/MAPK8 associated membrane protein | Zawsze | W 1 chorobie |
| KCNK4potassium two pore domain channel subfamily K member 4 | Zawsze | W 1 chorobie |
| KDM6Blysine demethylase 6B | Zawsze | W 1 chorobie |
| KIDINS220kinase D interacting substrate 220 | Zawsze | W 1 chorobie |
| LARP7La ribonucleoprotein 7, transcriptional regulator | Zawsze | W 2 chorobach |
| MED12mediator complex subunit 12 | Zawsze | W 2 chorobach |
| NONOnon-POU domain containing octamer binding | Zawsze | W 2 chorobach |
| NSD2nuclear receptor binding SET domain protein 2 | Zawsze | W 3 chorobach |
| PTH1Rparathyroid hormone 1 receptor | Zawsze | W 1 chorobie |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Zawsze | W 3 chorobach |
| RAP1GDS1Rap1 GTPase-GDP dissociation stimulator 1 | Zawsze | W 1 chorobie |
| SMAD4SMAD family member 4 | Zawsze | W 1 chorobie |
| SPOUT1SPOUT domain containing methyltransferase 1 | Zawsze | W 1 chorobie |
| TAF4TATA-box binding protein associated factor 4 | Zawsze | W 1 chorobie |
| TCF3transcription factor 3 | Zawsze | W 1 chorobie |
| TSPAN7tetraspanin 7 | Zawsze | W 1 chorobie |
| VPS13Bvacuolar protein sorting 13 homolog B | Zawsze | W 2 chorobach |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Zawsze | W 1 chorobie |
| WLSWnt ligand secretion mediator | Zawsze | W 1 chorobie |
| ZBTB18zinc finger and BTB domain containing 18 | Zawsze | W 1 chorobie |
| CPLX1complexin 1 | Bardzo często (80–99%) | W 2 chorobach |
| CTBP1C-terminal binding protein 1 | Bardzo często (80–99%) | W 2 chorobach |
| CUL4Bcullin 4B | Bardzo często (80–99%) | W 1 chorobie |
| KCNJ6potassium inwardly rectifying channel subfamily J member 6 | Bardzo często (80–99%) | W 2 chorobach |
Pokaż jeszcze 227 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Bardzo często (80–99%) | W 2 chorobach |
| NELFAnegative elongation factor complex member A | Bardzo często (80–99%) | W 1 chorobie |
| NEXMIFneurite extension and migration factor | Bardzo często (80–99%) | W 2 chorobach |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Bardzo często (80–99%) | W 1 chorobie |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Bardzo często (80–99%) | W 3 chorobach |
| POLR3ARNA polymerase III subunit A | Bardzo często (80–99%) | W 1 chorobie |
| RAB18RAB18, member RAS oncogene family | Bardzo często (80–99%) | W 1 chorobie |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Bardzo często (80–99%) | W 2 chorobach |
| SH3PXD2BSH3 and PX domains 2B | Bardzo często (80–99%) | W 1 chorobie |
| SRCAPSnf2 related CREBBP activator protein | Bardzo często (80–99%) | W 2 chorobach |
| TBC1D20TBC1 domain family member 20 | Bardzo często (80–99%) | W 1 chorobie |
| TCF4transcription factor 4 | Bardzo często (80–99%) | W 2 chorobach |
| TFAP2Btranscription factor AP-2 beta | Bardzo często (80–99%) | W 2 chorobach |
| TMEM70transmembrane protein 70 | Bardzo często (80–99%) | W 1 chorobie |
| TXNL4Athioredoxin like 4A | Bardzo często (80–99%) | W 1 chorobie |
| ADAMTSL1ADAMTS like 1 | Często (30–79%) | W 1 chorobie |
| AFF3ALF transcription elongation factor 3 | Często (30–79%) | W 1 chorobie |
| ALX4ALX homeobox 4 | Często (30–79%) | W 1 chorobie |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Często (30–79%) | W 1 chorobie |
| ARID1AAT-rich interaction domain 1A | Często (30–79%) | W 1 chorobie |
| ARID2AT-rich interaction domain 2 | Często (30–79%) | W 1 chorobie |
| AUTS2activator of transcription and developmental regulator AUTS2 | Często (30–79%) | W 2 chorobach |
| BCAS3BCAS3 microtubule associated cell migration factor | Często (30–79%) | W 1 chorobie |
| BPTFbromodomain PHD finger transcription factor | Często (30–79%) | W 1 chorobie |
| C1GALT1C1C1GALT1 specific chaperone 1 | Często (30–79%) | W 1 chorobie |
| CDH11cadherin 11 | Często (30–79%) | W 1 chorobie |
| CDONcell adhesion associated, oncogene regulated | Często (30–79%) | W 1 chorobie |
| CKAP2Lcytoskeleton associated protein 2L | Często (30–79%) | W 2 chorobach |
| CRIPTOcripto, EGF-CFC family member | Często (30–79%) | W 1 chorobie |
| DISP1dispatched RND transporter family member 1 | Często (30–79%) | W 1 chorobie |
| DLL1delta like canonical Notch ligand 1 | Często (30–79%) | W 1 chorobie |
| DOCK7dedicator of cytokinesis 7 | Często (30–79%) | W 2 chorobach |
| DPF2double PHD fingers 2 | Często (30–79%) | W 1 chorobie |
| EDEM3ER degradation enhancing alpha-mannosidase like protein 3 | Często (30–79%) | W 1 chorobie |
| EMC1ER membrane protein complex subunit 1 | Często (30–79%) | W 2 chorobach |
| EPB41L1erythrocyte membrane protein band 4.1 like 1 | Często (30–79%) | W 1 chorobie |
| EXT2exostosin glycosyltransferase 2 | Często (30–79%) | W 1 chorobie |
| FGF8fibroblast growth factor 8 | Często (30–79%) | W 1 chorobie |
| FGFR1fibroblast growth factor receptor 1 | Często (30–79%) | W 1 chorobie |
| FGFRL1fibroblast growth factor receptor like 1 | Często (30–79%) | W 1 chorobie |
| FIG4FIG4 phosphoinositide 5-phosphatase | Często (30–79%) | W 2 chorobach |
| FOXH1forkhead box H1 | Często (30–79%) | W 1 chorobie |
| FOXL2forkhead box L2 | Często (30–79%) | W 1 chorobie |
| GAS1growth arrest specific 1 | Często (30–79%) | W 1 chorobie |
| GLI2GLI family zinc finger 2 | Często (30–79%) | W 2 chorobach |
| GON4Lgon-4 like | Często (30–79%) | W 1 chorobie |
| H4C9H4 clustered histone 9 | Często (30–79%) | W 1 chorobie |
| HIVEP2HIVEP zinc finger 2 | Często (30–79%) | W 1 chorobie |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Często (30–79%) | W 1 chorobie |
| HOXB1homeobox B1 | Często (30–79%) | W 1 chorobie |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Często (30–79%) | W 1 chorobie |
| KAT6Alysine acetyltransferase 6A | Często (30–79%) | W 1 chorobie |
| KCNK9potassium two pore domain channel subfamily K member 9 | Często (30–79%) | W 2 chorobach |
| KDF1keratinocyte differentiation factor 1 | Często (30–79%) | W 1 chorobie |
| KDM4Blysine demethylase 4B | Często (30–79%) | W 1 chorobie |
| KICS2KICSTOR subunit 2 | Często (30–79%) | W 1 chorobie |
| KIF7kinesin family member 7 | Często (30–79%) | W 1 chorobie |
| LRRC32leucine rich repeat containing 32 | Często (30–79%) | W 1 chorobie |
| MAN1B1mannosidase alpha class 1B member 1 | Często (30–79%) | W 2 chorobach |
| MCTP2multiple C2 and transmembrane domain containing 2 | Często (30–79%) | W 1 chorobie |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Często (30–79%) | W 1 chorobie |
| MED25mediator complex subunit 25 | Często (30–79%) | W 2 chorobach |
| MEF2Cmyocyte enhancer factor 2C | Często (30–79%) | W 2 chorobach |
| MEIS2Meis homeobox 2 | Często (30–79%) | W 1 chorobie |
| NFIXnuclear factor I X | Często (30–79%) | W 2 chorobach |
| NKAPNFKB activating protein | Często (30–79%) | W 1 chorobie |
| NODALnodal growth differentiation factor | Często (30–79%) | W 1 chorobie |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Często (30–79%) | W 1 chorobie |
| NSRP1nuclear speckle splicing regulatory protein 1 | Często (30–79%) | W 1 chorobie |
| PDE4Dphosphodiesterase 4D | Często (30–79%) | W 1 chorobie |
| PHF21APHD finger protein 21A | Często (30–79%) | W 1 chorobie |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Często (30–79%) | W 1 chorobie |
| POGZpogo transposable element derived with ZNF domain | Często (30–79%) | W 2 chorobach |
| PQBP1polyglutamine binding protein 1 | Często (30–79%) | W 2 chorobach |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Często (30–79%) | W 1 chorobie |
| PSMC3proteasome 26S subunit, ATPase 3 | Często (30–79%) | W 1 chorobie |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Często (30–79%) | W 1 chorobie |
| PTCH1patched 1 | Często (30–79%) | W 1 chorobie |
| PUS7pseudouridine synthase 7 | Często (30–79%) | W 1 chorobie |
| RAI1retinoic acid induced 1 | Często (30–79%) | W 1 chorobie |
| RNF2ring finger protein 2 | Często (30–79%) | W 1 chorobie |
| SHHsonic hedgehog signaling molecule | Często (30–79%) | W 1 chorobie |
| SIX3SIX homeobox 3 | Często (30–79%) | W 1 chorobie |
| SLC35A2solute carrier family 35 member A2 | Często (30–79%) | W 1 chorobie |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Często (30–79%) | W 1 chorobie |
| SOX11SRY-box transcription factor 11 | Często (30–79%) | W 1 chorobie |
| STIM1stromal interaction molecule 1 | Często (30–79%) | W 1 chorobie |
| SUFUSUFU negative regulator of hedgehog signaling | Często (30–79%) | W 1 chorobie |
| TBR1T-box brain transcription factor 1 | Często (30–79%) | W 1 chorobie |
| TGIF1TGFB induced factor homeobox 1 | Często (30–79%) | W 1 chorobie |
| TMLHEtrimethyllysine hydroxylase, epsilon | Często (30–79%) | W 1 chorobie |
| TRAPPC9trafficking protein particle complex subunit 9 | Często (30–79%) | W 1 chorobie |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Często (30–79%) | W 1 chorobie |
| TWIST1twist family bHLH transcription factor 1 | Często (30–79%) | W 1 chorobie |
| TWIST2twist family bHLH transcription factor 2 | Często (30–79%) | W 1 chorobie |
| UBE3Bubiquitin protein ligase E3B | Często (30–79%) | W 1 chorobie |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Często (30–79%) | W 1 chorobie |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Często (30–79%) | W 1 chorobie |
| VAC14VAC14 component of PIKFYVE complex | Często (30–79%) | W 1 chorobie |
| VPS51VPS51 subunit of GARP complex | Często (30–79%) | W 1 chorobie |
| WBP4WW domain binding protein 4 | Często (30–79%) | W 1 chorobie |
| WDR26WD repeat domain 26 | Często (30–79%) | W 1 chorobie |
| ZDHHC9zDHHC palmitoyltransferase 9 | Często (30–79%) | W 1 chorobie |
| ZEB2zinc finger E-box binding homeobox 2 | Często (30–79%) | W 2 chorobach |
| ZIC2Zic family zinc finger 2 | Często (30–79%) | W 1 chorobie |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Czasami (5–29%) | W 1 chorobie |
| AHDC1AT-hook DNA binding motif containing 1 | Czasami (5–29%) | W 1 chorobie |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Czasami (5–29%) | W 2 chorobach |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Czasami (5–29%) | W 2 chorobach |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Czasami (5–29%) | W 2 chorobach |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Czasami (5–29%) | W 2 chorobach |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Czasami (5–29%) | W 2 chorobach |
| APCAPC regulator of Wnt signaling pathway | Czasami (5–29%) | W 1 chorobie |
| ARVCFARVCF delta catenin family member | Czasami (5–29%) | W 1 chorobie |
| ATXN7L3ataxin 7 like 3 | Czasami (5–29%) | W 1 chorobie |
| CCBE1collagen and calcium binding EGF domains 1 | Czasami (5–29%) | W 1 chorobie |
| CDC42BPBCDC42 binding protein kinase beta | Czasami (5–29%) | W 1 chorobie |
| CDH2cadherin 2 | Czasami (5–29%) | W 1 chorobie |
| CDK13cyclin dependent kinase 13 | Czasami (5–29%) | W 1 chorobie |
| CHD5chromodomain helicase DNA binding protein 5 | Czasami (5–29%) | W 1 chorobie |
| CLCN3Cl-/H+ antiporter 3 | Czasami (5–29%) | W 1 chorobie |
| CNOT3CCR4-NOT transcription complex subunit 3 | Czasami (5–29%) | W 1 chorobie |
| COMTcatechol-O-methyltransferase | Czasami (5–29%) | W 1 chorobie |
| CREBBPCREB binding lysine acetyltransferase | Czasami (5–29%) | W 1 chorobie |
| CRELD1CRELD disulfide isomerase 1 | Czasami (5–29%) | W 1 chorobie |
| CTCFCCCTC-binding factor | Czasami (5–29%) | W 2 chorobach |
| DHX37DEAH-box helicase 37 | Czasami (5–29%) | W 1 chorobie |
| DLK1delta like non-canonical Notch ligand 1 | Czasami (5–29%) | W 3 chorobach |
| DPYSL5dihydropyrimidinase like 5 | Czasami (5–29%) | W 1 chorobie |
| DVL1dishevelled segment polarity protein 1 | Czasami (5–29%) | W 1 chorobie |
| DVL3dishevelled segment polarity protein 3 | Czasami (5–29%) | W 1 chorobie |
| ERLIN2ER lipid raft associated 2 | Czasami (5–29%) | W 2 chorobach |
| FAT4FAT atypical cadherin 4 | Czasami (5–29%) | W 1 chorobie |
| FBXO11F-box protein 11 | Czasami (5–29%) | W 1 chorobie |
| FEM1Bfem-1 homolog B | Czasami (5–29%) | W 1 chorobie |
| FRYLFRY like transcription coactivator | Czasami (5–29%) | W 1 chorobie |
| FZD2frizzled class receptor 2 | Czasami (5–29%) | W 1 chorobie |
| GNB1G protein subunit beta 1 | Czasami (5–29%) | W 1 chorobie |
| GP1BBglycoprotein Ib platelet subunit beta | Czasami (5–29%) | W 1 chorobie |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Czasami (5–29%) | W 1 chorobie |
| GRIA4glutamate ionotropic receptor AMPA type subunit 4 | Czasami (5–29%) | W 1 chorobie |
| H4C5H4 clustered histone 5 | Czasami (5–29%) | W 1 chorobie |
| HDAC6histone deacetylase 6 | Czasami (5–29%) | W 1 chorobie |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Czasami (5–29%) | W 1 chorobie |
| HIRAhistone cell cycle regulator | Czasami (5–29%) | W 1 chorobie |
| JARID2jumonji and AT-rich interaction domain containing 2 | Czasami (5–29%) | W 1 chorobie |
| JMJD1Cjumonji domain containing 1C | Czasami (5–29%) | W 1 chorobie |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Czasami (5–29%) | W 1 chorobie |
| KIF26Akinesin family member 26A | Czasami (5–29%) | W 1 chorobie |
| LRP4LDL receptor related protein 4 | Czasami (5–29%) | W 1 chorobie |
| MADDMAP kinase activating death domain | Czasami (5–29%) | W 1 chorobie |
| MARK2microtubule affinity regulating kinase 2 | Czasami (5–29%) | W 1 chorobie |
| MED12Lmediator complex subunit 12L | Czasami (5–29%) | W 1 chorobie |
| MEG3maternally expressed 3 | Czasami (5–29%) | W 3 chorobach |
| MID2midline 2 | Czasami (5–29%) | W 1 chorobie |
| MTX2metaxin 2 | Czasami (5–29%) | W 1 chorobie |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Czasami (5–29%) | W 1 chorobie |
| NXNnucleoredoxin | Czasami (5–29%) | W 1 chorobie |
| PCDHGC4protocadherin gamma subfamily C, 4 | Czasami (5–29%) | W 1 chorobie |
| PGAP2post-GPI attachment to proteins 2 | Czasami (5–29%) | W 1 chorobie |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Czasami (5–29%) | W 1 chorobie |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Czasami (5–29%) | W 1 chorobie |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Czasami (5–29%) | W 2 chorobach |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Czasami (5–29%) | W 1 chorobie |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Czasami (5–29%) | W 1 chorobie |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Czasami (5–29%) | W 1 chorobie |
| PPP2CAprotein phosphatase 2 catalytic subunit alpha | Czasami (5–29%) | W 1 chorobie |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Czasami (5–29%) | W 1 chorobie |
| PRKACBprotein kinase cAMP-activated catalytic subunit beta | Czasami (5–29%) | W 1 chorobie |
| RNU4-2RNA, U4 small nuclear 2 | Czasami (5–29%) | W 1 chorobie |
| RNU4ATACRNA, U4atac small nuclear | Czasami (5–29%) | W 1 chorobie |
| ROR2ROR family WNT receptor 2 | Czasami (5–29%) | W 2 chorobach |
| RREB1ras responsive element binding protein 1 | Czasami (5–29%) | W 1 chorobie |
| RTL1retrotransposon Gag like 1 | Czasami (5–29%) | W 3 chorobach |
| SATB2SATB homeobox 2 | Czasami (5–29%) | W 1 chorobie |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Czasami (5–29%) | W 1 chorobie |
| SEC24CSEC24 homolog C, COPII component | Czasami (5–29%) | W 1 chorobie |
| SHMT2serine hydroxymethyltransferase 2 | Czasami (5–29%) | W 1 chorobie |
| SIN3ASIN3 transcription regulator family member A | Czasami (5–29%) | W 1 chorobie |
| SLC6A1solute carrier family 6 member 1 | Czasami (5–29%) | W 1 chorobie |
| SLC6A11solute carrier family 6 member 11 | Czasami (5–29%) | W 1 chorobie |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Czasami (5–29%) | W 1 chorobie |
| SMC1Astructural maintenance of chromosomes 1A | Czasami (5–29%) | W 1 chorobie |
| SMPD4sphingomyelin phosphodiesterase 4 | Czasami (5–29%) | W 1 chorobie |
| SONSON DNA and RNA binding protein | Czasami (5–29%) | W 2 chorobach |
| SPENspen family transcriptional repressor | Czasami (5–29%) | W 1 chorobie |
| TAOK1TAO kinase 1 | Czasami (5–29%) | W 1 chorobie |
| TBX1T-box transcription factor 1 | Czasami (5–29%) | W 2 chorobach |
| TCTN3tectonic family member 3 | Czasami (5–29%) | W 1 chorobie |
| TMEM94transmembrane protein 94 | Czasami (5–29%) | W 1 chorobie |
| TRIOtrio Rho guanine nucleotide exchange factor | Czasami (5–29%) | W 1 chorobie |
| TRIP12thyroid hormone receptor interactor 12 | Czasami (5–29%) | W 1 chorobie |
| TRMT10AtRNA methyltransferase 10A | Czasami (5–29%) | W 1 chorobie |
| TTC5tetratricopeptide repeat domain 5 | Czasami (5–29%) | W 1 chorobie |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Czasami (5–29%) | W 1 chorobie |
| WNT4Wnt family member 4 | Czasami (5–29%) | W 1 chorobie |
| WNT5AWnt family member 5A | Czasami (5–29%) | W 1 chorobie |
| ZNF292zinc finger protein 292 | Czasami (5–29%) | W 1 chorobie |
| ACBD6acyl-CoA binding domain containing 6 | Rzadko (1–4%) | W 1 chorobie |
| ANKRD17ankyrin repeat domain 17 | Rzadko (1–4%) | W 1 chorobie |
| CNTNAP2contactin associated protein 2 | Rzadko (1–4%) | W 1 chorobie |
| SETBP1SET binding protein 1 | Rzadko (1–4%) | W 1 chorobie |
| SMSspermine synthase | Rzadko (1–4%) | W 2 chorobach |
| SPTBN1spectrin beta, non-erythrocytic 1 | Rzadko (1–4%) | W 1 chorobie |
| ARID1BAT-rich interaction domain 1B | Nie odnotowano | W 1 chorobie |
| BCL11BBCL11 transcription factor B | Nie odnotowano | W 1 chorobie |
| COL3A1collagen type III alpha 1 chain | Nie odnotowano | W 1 chorobie |
| FREM1FRAS1 related extracellular matrix 1 | Nie odnotowano | W 1 chorobie |
| GALNT2polypeptide N-acetylgalactosaminyltransferase 2 | Nie odnotowano | W 1 chorobie |
| IFT57intraflagellar transport 57 | Nie odnotowano | W 1 chorobie |
| KIFBPkinesin family binding protein | Nie odnotowano | W 1 chorobie |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Nie odnotowano | W 1 chorobie |
| NOGnoggin | Nie odnotowano | W 1 chorobie |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Nie odnotowano | W 1 chorobie |
| OPHN1oligophrenin 1 | Nie odnotowano | W 1 chorobie |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Nie odnotowano | W 1 chorobie |
| PITX2paired like homeodomain 2 | Nie odnotowano | W 1 chorobie |
| RALARAS like proto-oncogene A | Nie odnotowano | W 1 chorobie |
| RUNX2RUNX family transcription factor 2 | Nie odnotowano | W 1 chorobie |
| SLC35A1solute carrier family 35 member A1 | Nie odnotowano | W 1 chorobie |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Nie odnotowano | W 1 chorobie |
| STAG2STAG2 cohesin complex component | Nie odnotowano | W 1 chorobie |
| TALDO1transaldolase 1 | Nie odnotowano | W 1 chorobie |
| TMEM237transmembrane protein 237 | Nie odnotowano | W 1 chorobie |
| TNPO2transportin 2 | Nie odnotowano | W 1 chorobie |
| TRRAPtransformation/transcription domain associated protein | Nie odnotowano | W 1 chorobie |
| UNC80unc-80 subunit of NALCN channel complex | Nie odnotowano | W 1 chorobie |
Jak często występuje wśród osób z jedną z chorób związanych z tym genem, najczęściej spośród wszystkich, według danych Human Phenotype Ontology. Te strony opisują cechy i badania, na których się opierają; nie są diagnozą, a w sprawie objawów należy zwrócić się do lekarza lub doradcy genetycznego.
Cechy nadrzędne
Skąd pochodzą te dane
- Human Phenotype Ontology, wydanie 2026-09-01: cecha, jej nazwy, definicja oraz geny z nią powiązane. Więcej informacji znajdą Państwo na stronie hpo.jax.org.
- Wydanie danych 2026.10.16-c6eea6bf.
Jeden test. Odpowiedzi na całe życie.
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