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Požymis
Large ears
Klinikinis pavadinimas: Macrotia
Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).
Santrauka
- Taip pat vadinama
- Large pinnae
- Kūno sistema
- Abnormality of the ear
Large earsHP:0000400
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PrisijungtiKlaustiPradėtinuo 449 $
Read the genes linked to Large ears, and the rest of your genome, with one test.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test280 genų susiję su Large ears
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Large ears. 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 |
|---|---|---|
| AGO1argonaute RISC component 1 | Visada | 1 ligoje |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Visada | 1 ligoje |
| ATP6V1AATPase H+ transporting V1 subunit A | Visada | 1 ligoje |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Visada | 1 ligoje |
| CITcitron rho-interacting serine/threonine kinase | Visada | 1 ligoje |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Visada | 1 ligoje |
| DENND5ADENN domain containing 5A | Visada | 1 ligoje |
| EEDembryonic ectoderm development | Visada | 1 ligoje |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Visada | 1 ligoje |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Visada | 1 ligoje |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Visada | 1 ligoje |
| ERI1exoribonuclease 1 | Visada | 1 ligoje |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Visada | 2 ligose |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Visada | 2 ligose |
| IKZF2IKAROS family zinc finger 2 | Visada | 1 ligoje |
| KDM5Clysine demethylase 5C | Visada | 1 ligoje |
| KDM6Blysine demethylase 6B | Visada | 1 ligoje |
| MAN1B1mannosidase alpha class 1B member 1 | Visada | 2 ligose |
| MBTPS1membrane bound transcription factor peptidase, site 1 | Visada | 1 ligoje |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Visada | 1 ligoje |
| NALCNsodium leak channel, non-selective | Visada | 2 ligose |
| NBNnibrin | Visada | 2 ligose |
| NEXMIFneurite extension and migration factor | Visada | 1 ligoje |
| NSD1nuclear receptor binding SET domain protein 1 | Visada | 2 ligose |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Visada | 1 ligoje |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Visada | 1 ligoje |
| PTDSS1phosphatidylserine synthase 1 | Visada | 2 ligose |
| QRICH1glutamine rich 1 | Visada | 1 ligoje |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Visada | 3 ligose |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Visada | 2 ligose |
| RBMXRNA binding motif protein X-linked | Visada | 3 ligose |
| RNU2-2RNA, U2 small nuclear 2 | Visada | 1 ligoje |
| SLC6A17solute carrier family 6 member 17 | Visada | 2 ligose |
| SUOXsulfite oxidase | Visada | 1 ligoje |
| TAF4TATA-box binding protein associated factor 4 | Visada | 1 ligoje |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Visada | 1 ligoje |
| TBC1D23TBC1 domain family member 23 | Visada | 1 ligoje |
| TOP2BDNA topoisomerase II beta | Visada | 1 ligoje |
| TOR1Atorsin family 1 member A | Visada | 1 ligoje |
| ZNF668zinc finger protein 668 | Visada | 1 ligoje |
Rodyti dar 240 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| AIPAHR interacting HSP90 co-chaperone | Labai dažnai (80–99%) | 1 ligoje |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Labai dažnai (80–99%) | 1 ligoje |
| BRWD3bromodomain and WD repeat domain containing 3 | Labai dažnai (80–99%) | 1 ligoje |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Labai dažnai (80–99%) | 1 ligoje |
| CHST14carbohydrate sulfotransferase 14 | Labai dažnai (80–99%) | 1 ligoje |
| CLIP2CAP-Gly domain containing linker protein 2 | Labai dažnai (80–99%) | 1 ligoje |
| CWC27CWC27 spliceosome associated cyclophilin | Labai dažnai (80–99%) | 2 ligose |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Labai dažnai (80–99%) | 1 ligoje |
| DSEdermatan sulfate epimerase | Labai dažnai (80–99%) | 1 ligoje |
| EIF4Heukaryotic translation initiation factor 4H | Labai dažnai (80–99%) | 1 ligoje |
| ELNelastin | Labai dažnai (80–99%) | 1 ligoje |
| FGFR2fibroblast growth factor receptor 2 | Labai dažnai (80–99%) | 1 ligoje |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Labai dažnai (80–99%) | 1 ligoje |
| GPR101G protein-coupled receptor 101 | Labai dažnai (80–99%) | 1 ligoje |
| GTF2Igeneral transcription factor IIi | Labai dažnai (80–99%) | 1 ligoje |
| GTF2IRD1GTF2I repeat domain containing 1 | Labai dažnai (80–99%) | 1 ligoje |
| GTF2IRD2GTF2I repeat domain containing 2 | Labai dažnai (80–99%) | 1 ligoje |
| HHAThedgehog acyltransferase | Labai dažnai (80–99%) | 1 ligoje |
| KDM6Alysine demethylase 6A | Labai dažnai (80–99%) | 3 ligose |
| KMT2Dlysine methyltransferase 2D | Labai dažnai (80–99%) | 2 ligose |
| LIMK1LIM domain kinase 1 | Labai dažnai (80–99%) | 1 ligoje |
| METTL27methyltransferase like 27 | Labai dažnai (80–99%) | 1 ligoje |
| NCF1neutrophil cytosolic factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| NDPnorrin cystine knot growth factor NDP | Labai dažnai (80–99%) | 1 ligoje |
| NECTIN1nectin cell adhesion molecule 1 | Labai dažnai (80–99%) | 1 ligoje |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Labai dažnai (80–99%) | 2 ligose |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Labai dažnai (80–99%) | 1 ligoje |
| RFC2replication factor C subunit 2 | Labai dažnai (80–99%) | 1 ligoje |
| SLC9A6solute carrier family 9 member A6 | Labai dažnai (80–99%) | 2 ligose |
| SSR4signal sequence receptor subunit 4 | Labai dažnai (80–99%) | 2 ligose |
| STX1Asyntaxin 1A | Labai dažnai (80–99%) | 1 ligoje |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Labai dažnai (80–99%) | 1 ligoje |
| TBL2transducin beta like 2 | Labai dažnai (80–99%) | 1 ligoje |
| TBX22T-box transcription factor 22 | Labai dažnai (80–99%) | 2 ligose |
| TMEM270transmembrane protein 270 | Labai dažnai (80–99%) | 1 ligoje |
| TRPS1transcriptional repressor GATA binding 1 | Labai dažnai (80–99%) | 2 ligose |
| VPS37DVPS37D subunit of ESCRT-I | Labai dažnai (80–99%) | 1 ligoje |
| ZBTB20zinc finger and BTB domain containing 20 | Labai dažnai (80–99%) | 2 ligose |
| ZNF526zinc finger protein 526 | Labai dažnai (80–99%) | 1 ligoje |
| ZNHIT3zinc finger HIT-type containing 3 | Labai dažnai (80–99%) | 1 ligoje |
| ADAMTSL1ADAMTS like 1 | Dažnai (30–79%) | 1 ligoje |
| AEBP1AE binding protein 1 | Dažnai (30–79%) | 2 ligose |
| AKT1AKT serine/threonine kinase 1 | Dažnai (30–79%) | 1 ligoje |
| AMOTL1angiomotin like 1 | Dažnai (30–79%) | 1 ligoje |
| ANKRD11ankyrin repeat domain 11 | Dažnai (30–79%) | 2 ligose |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Dažnai (30–79%) | 1 ligoje |
| BORCS8BLOC-1 related complex subunit 8 | Dažnai (30–79%) | 1 ligoje |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Dažnai (30–79%) | 1 ligoje |
| BRD4bromodomain containing 4 | Dažnai (30–79%) | 2 ligose |
| CASKcalcium/calmodulin dependent serine protein kinase | Dažnai (30–79%) | 2 ligose |
| CENPEcentromere protein E | Dažnai (30–79%) | 1 ligoje |
| CHD8chromodomain helicase DNA binding protein 8 | Dažnai (30–79%) | 1 ligoje |
| CLIC2CLIC family member 2 | Dažnai (30–79%) | 1 ligoje |
| CPEcarboxypeptidase E | Dažnai (30–79%) | 1 ligoje |
| CTU2cytosolic thiouridylase subunit 2 | Dažnai (30–79%) | 1 ligoje |
| DDB1damage specific DNA binding protein 1 | Dažnai (30–79%) | 1 ligoje |
| DPF2double PHD fingers 2 | Dažnai (30–79%) | 1 ligoje |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Dažnai (30–79%) | 1 ligoje |
| FAR1fatty acyl-CoA reductase 1 | Dažnai (30–79%) | 2 ligose |
| FDFT1farnesyl-diphosphate farnesyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| FMR1fragile X messenger ribonucleoprotein 1 | Dažnai (30–79%) | 2 ligose |
| FTSJ1FtsJ RNA 2'-O-methyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| GLI2GLI family zinc finger 2 | Dažnai (30–79%) | 1 ligoje |
| GON7GON7 subunit of KEOPS complex | Dažnai (30–79%) | 1 ligoje |
| GRIA4glutamate ionotropic receptor AMPA type subunit 4 | Dažnai (30–79%) | 1 ligoje |
| HDAC4histone deacetylase 4 | Dažnai (30–79%) | 1 ligoje |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Dažnai (30–79%) | 1 ligoje |
| KATNB1katanin regulatory subunit B1 | Dažnai (30–79%) | 1 ligoje |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Dažnai (30–79%) | 1 ligoje |
| KLHL20kelch like family member 20 | Dažnai (30–79%) | 1 ligoje |
| KRASKRas proto-oncogene, GTPase | Dažnai (30–79%) | 1 ligoje |
| LAGE3L antigen family member 3 | Dažnai (30–79%) | 1 ligoje |
| MAP2K1mitogen-activated protein kinase kinase 1 | Dažnai (30–79%) | 1 ligoje |
| MAP2K2mitogen-activated protein kinase kinase 2 | Dažnai (30–79%) | 1 ligoje |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Dažnai (30–79%) | 1 ligoje |
| MID2midline 2 | Dažnai (30–79%) | 1 ligoje |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Dažnai (30–79%) | 2 ligose |
| NUP107nucleoporin 107 | Dažnai (30–79%) | 1 ligoje |
| NUP133nucleoporin 133 | Dažnai (30–79%) | 1 ligoje |
| ODC1ornithine decarboxylase 1 | Dažnai (30–79%) | 1 ligoje |
| OSGEPO-sialoglycoprotein endopeptidase | Dažnai (30–79%) | 1 ligoje |
| OTUD6BOTU deubiquitinase 6B | Dažnai (30–79%) | 2 ligose |
| OTUD7AOTU deubiquitinase 7A | Dažnai (30–79%) | 1 ligoje |
| PAK3p21 (RAC1) activated kinase 3 | Dažnai (30–79%) | 1 ligoje |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Dažnai (30–79%) | 1 ligoje |
| POLR1ARNA polymerase I subunit A | Dažnai (30–79%) | 1 ligoje |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Dažnai (30–79%) | 1 ligoje |
| PQBP1polyglutamine binding protein 1 | Dažnai (30–79%) | 3 ligose |
| PTCH1patched 1 | Dažnai (30–79%) | 1 ligoje |
| RAB18RAB18, member RAS oncogene family | Dažnai (30–79%) | 2 ligose |
| RPL10ribosomal protein L10 | Dažnai (30–79%) | 1 ligoje |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Dažnai (30–79%) | 1 ligoje |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Dažnai (30–79%) | 1 ligoje |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Dažnai (30–79%) | 1 ligoje |
| SLC2A10solute carrier family 2 member 10 | Dažnai (30–79%) | 2 ligose |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Dažnai (30–79%) | 1 ligoje |
| STEEP1STING1 ER exit protein 1 | Dažnai (30–79%) | 1 ligoje |
| TBC1D20TBC1 domain family member 20 | Dažnai (30–79%) | 1 ligoje |
| TOE1target of EGR1, exonuclease | Dažnai (30–79%) | 2 ligose |
| TP53RKTP53 regulating kinase | Dažnai (30–79%) | 1 ligoje |
| TPRKBTP53RK binding protein | Dažnai (30–79%) | 1 ligoje |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Dažnai (30–79%) | 1 ligoje |
| WDR73WD repeat domain 73 | Dažnai (30–79%) | 2 ligose |
| WSB2WD repeat and SOCS box containing 2 | Dažnai (30–79%) | 1 ligoje |
| YME1L1YME1 like 1 ATPase | Dažnai (30–79%) | 1 ligoje |
| YRDCyrdC N6-threonylcarbamoyltransferase domain containing | Dažnai (30–79%) | 1 ligoje |
| ZIC2Zic family zinc finger 2 | Dažnai (30–79%) | 1 ligoje |
| ZNF711ZFX family zinc finger ZNF711 | Dažnai (30–79%) | 1 ligoje |
| ADAT3adenosine deaminase tRNA specific 3 | Kartais (5–29%) | 1 ligoje |
| AHSGalpha 2-HS glycoprotein | Kartais (5–29%) | 1 ligoje |
| ALKBH8alkB homolog 8, tRNA methyltransferase | Kartais (5–29%) | 1 ligoje |
| ARL6ARF like GTPase 6 | Kartais (5–29%) | 1 ligoje |
| BBIP1BBSome interacting protein 1 | Kartais (5–29%) | 1 ligoje |
| BBS1Bardet-Biedl syndrome 1 | Kartais (5–29%) | 1 ligoje |
| BBS10Bardet-Biedl syndrome 10 | Kartais (5–29%) | 1 ligoje |
| BBS12Bardet-Biedl syndrome 12 | Kartais (5–29%) | 1 ligoje |
| BBS2Bardet-Biedl syndrome 2 | Kartais (5–29%) | 1 ligoje |
| BBS4Bardet-Biedl syndrome 4 | Kartais (5–29%) | 1 ligoje |
| BBS5Bardet-Biedl syndrome 5 | Kartais (5–29%) | 1 ligoje |
| BBS7Bardet-Biedl syndrome 7 | Kartais (5–29%) | 1 ligoje |
| BBS9Bardet-Biedl syndrome 9 | Kartais (5–29%) | 1 ligoje |
| CA2carbonic anhydrase 2 | Kartais (5–29%) | 1 ligoje |
| CEP19centrosomal protein 19 | Kartais (5–29%) | 1 ligoje |
| CEP290centrosomal protein 290 | Kartais (5–29%) | 1 ligoje |
| CFAP418cilia and flagella associated protein 418 | Kartais (5–29%) | 1 ligoje |
| CHRNA7cholinergic receptor nicotinic alpha 7 subunit | Kartais (5–29%) | 1 ligoje |
| CLCN3Cl-/H+ antiporter 3 | Kartais (5–29%) | 1 ligoje |
| COG3component of oligomeric golgi complex 3 | Kartais (5–29%) | 1 ligoje |
| DHX30DExH-box helicase 30 | Kartais (5–29%) | 1 ligoje |
| DPYSL5dihydropyrimidinase like 5 | Kartais (5–29%) | 1 ligoje |
| EMILIN1elastin microfibril interfacer 1 | Kartais (5–29%) | 1 ligoje |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Kartais (5–29%) | 1 ligoje |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Kartais (5–29%) | 1 ligoje |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Kartais (5–29%) | 3 ligose |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Kartais (5–29%) | 3 ligose |
| FBXO11F-box protein 11 | Kartais (5–29%) | 1 ligoje |
| FIBPFGF1 intracellular binding protein | Kartais (5–29%) | 2 ligose |
| GLB1galactosidase beta 1 | Kartais (5–29%) | 1 ligoje |
| GNB2G protein subunit beta 2 | Kartais (5–29%) | 1 ligoje |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Kartais (5–29%) | 1 ligoje |
| HDAC8histone deacetylase 8 | Kartais (5–29%) | 1 ligoje |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Kartais (5–29%) | 1 ligoje |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Kartais (5–29%) | 1 ligoje |
| IFT172intraflagellar transport 172 | Kartais (5–29%) | 1 ligoje |
| IFT27intraflagellar transport 27 | Kartais (5–29%) | 1 ligoje |
| IFT74intraflagellar transport 74 | Kartais (5–29%) | 1 ligoje |
| INSRinsulin receptor | Kartais (5–29%) | 2 ligose |
| IPO8importin 8 | Kartais (5–29%) | 1 ligoje |
| IQSEC2IQ motif and Sec7 domain ArfGEF 2 | Kartais (5–29%) | 1 ligoje |
| ITGB6integrin subunit beta 6 | Kartais (5–29%) | 1 ligoje |
| KDM4Blysine demethylase 4B | Kartais (5–29%) | 1 ligoje |
| KIFBPkinesin family binding protein | Kartais (5–29%) | 1 ligoje |
| LGI1leucine rich glioma inactivated 1 | Kartais (5–29%) | 1 ligoje |
| LMBRD2LMBR1 domain containing 2 | Kartais (5–29%) | 1 ligoje |
| LRRC7leucine rich repeat containing 7 | Kartais (5–29%) | 1 ligoje |
| LSSlanosterol synthase | Kartais (5–29%) | 1 ligoje |
| LZTFL1leucine zipper transcription factor like 1 | Kartais (5–29%) | 1 ligoje |
| MARK2microtubule affinity regulating kinase 2 | Kartais (5–29%) | 1 ligoje |
| MAU2MAU2 sister chromatid cohesion factor | Kartais (5–29%) | 1 ligoje |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Kartais (5–29%) | 1 ligoje |
| MECP2methyl-CpG binding protein 2 | Kartais (5–29%) | 2 ligose |
| MED13Lmediator complex subunit 13L | Kartais (5–29%) | 2 ligose |
| MED16mediator complex subunit 16 | Kartais (5–29%) | 1 ligoje |
| MKKSMKKS centrosomal shuttling protein | Kartais (5–29%) | 1 ligoje |
| MKS1MKS transition zone complex subunit 1 | Kartais (5–29%) | 1 ligoje |
| NIPBLNIPBL cohesin loading factor | Kartais (5–29%) | 1 ligoje |
| NPHP1nephrocystin 1 | Kartais (5–29%) | 1 ligoje |
| PACS1phosphofurin acidic cluster sorting protein 1 | Kartais (5–29%) | 2 ligose |
| PLCH1phospholipase C eta 1 | Kartais (5–29%) | 1 ligoje |
| PMM2phosphomannomutase 2 | Kartais (5–29%) | 2 ligose |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Kartais (5–29%) | 2 ligose |
| PTENphosphatase and tensin homolog | Kartais (5–29%) | 1 ligoje |
| PYCR2pyrroline-5-carboxylate reductase 2 | Kartais (5–29%) | 1 ligoje |
| RAD21RAD21 cohesin complex component | Kartais (5–29%) | 1 ligoje |
| RDH11retinol dehydrogenase 11 | Kartais (5–29%) | 1 ligoje |
| RHOBTB2Rho related BTB domain containing 2 | Kartais (5–29%) | 1 ligoje |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Kartais (5–29%) | 1 ligoje |
| RNU4-2RNA, U4 small nuclear 2 | Kartais (5–29%) | 1 ligoje |
| SCAPERS-phase cyclin A associated protein in the ER | Kartais (5–29%) | 1 ligoje |
| SCLT1sodium channel and clathrin linker 1 | Kartais (5–29%) | 1 ligoje |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Kartais (5–29%) | 1 ligoje |
| SIN3ASIN3 transcription regulator family member A | Kartais (5–29%) | 1 ligoje |
| SLC2A1solute carrier family 2 member 1 | Kartais (5–29%) | 1 ligoje |
| SLC4A10solute carrier family 4 member 10 | Kartais (5–29%) | 1 ligoje |
| SMC1Astructural maintenance of chromosomes 1A | Kartais (5–29%) | 1 ligoje |
| SMC3structural maintenance of chromosomes 3 | Kartais (5–29%) | 1 ligoje |
| SMG8SMG8 nonsense mediated mRNA decay factor | Kartais (5–29%) | 1 ligoje |
| SNAP29synaptosome associated protein 29 | Kartais (5–29%) | 1 ligoje |
| SOX6SRY-box transcription factor 6 | Kartais (5–29%) | 1 ligoje |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Kartais (5–29%) | 1 ligoje |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Kartais (5–29%) | 1 ligoje |
| TBL1XR1TBL1X/Y related 1 | Kartais (5–29%) | 1 ligoje |
| THOC2THO complex subunit 2 | Kartais (5–29%) | 1 ligoje |
| TRIM32tripartite motif containing 32 | Kartais (5–29%) | 1 ligoje |
| TRIOtrio Rho guanine nucleotide exchange factor | Kartais (5–29%) | 1 ligoje |
| TRMT10AtRNA methyltransferase 10A | Kartais (5–29%) | 1 ligoje |
| TTC8tetratricopeptide repeat domain 8 | Kartais (5–29%) | 1 ligoje |
| TTI2TELO2 interacting protein 2 | Kartais (5–29%) | 2 ligose |
| UBE2Aubiquitin conjugating enzyme E2 A | Kartais (5–29%) | 1 ligoje |
| WDPCPWD repeat containing planar cell polarity effector | Kartais (5–29%) | 1 ligoje |
| ZNF699zinc finger protein 699 | Kartais (5–29%) | 1 ligoje |
| CNTNAP2contactin associated protein 2 | Retai (1–4 %) | 1 ligoje |
| CTCFCCCTC-binding factor | Retai (1–4 %) | 1 ligoje |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Retai (1–4 %) | 1 ligoje |
| TBCDtubulin folding cofactor D | Retai (1–4 %) | 1 ligoje |
| AGPAT21-acylglycerol-3-phosphate O-acyltransferase 2 | Neužfiksuota | 1 ligoje |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Neužfiksuota | 1 ligoje |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Neužfiksuota | 1 ligoje |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Neužfiksuota | 1 ligoje |
| BMP4bone morphogenetic protein 4 | Neužfiksuota | 1 ligoje |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Neužfiksuota | 1 ligoje |
| CBLCbl proto-oncogene | Neužfiksuota | 1 ligoje |
| CEP120centrosomal protein 120 | Neužfiksuota | 1 ligoje |
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Neužfiksuota | 1 ligoje |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Neužfiksuota | 1 ligoje |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Neužfiksuota | 1 ligoje |
| FLNAfilamin A | Neužfiksuota | 1 ligoje |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Neužfiksuota | 1 ligoje |
| ITGA3integrin subunit alpha 3 | Neužfiksuota | 1 ligoje |
| JAG1jagged canonical Notch ligand 1 | Neužfiksuota | 1 ligoje |
| KCNJ1potassium inwardly rectifying channel subfamily J member 1 | Neužfiksuota | 1 ligoje |
| MAN2B1mannosidase alpha class 2B member 1 | Neužfiksuota | 1 ligoje |
| MGPmatrix Gla protein | Neužfiksuota | 1 ligoje |
| MMACHCmetabolism of cobalamin associated C | Neužfiksuota | 1 ligoje |
| MPLKIPM-phase specific PLK1 interacting protein | Neužfiksuota | 1 ligoje |
| NDE1nudE neurodevelopment protein 1 | Neužfiksuota | 1 ligoje |
| NHSNHS actin remodeling regulator | Neužfiksuota | 1 ligoje |
| OPHN1oligophrenin 1 | Neužfiksuota | 1 ligoje |
| PCLOpiccolo presynaptic cytomatrix protein | Neužfiksuota | 1 ligoje |
| PHF6PHD finger protein 6 | Neužfiksuota | 1 ligoje |
| PHGDHphosphoglycerate dehydrogenase | Neužfiksuota | 1 ligoje |
| PRDX1peroxiredoxin 1 | Neužfiksuota | 1 ligoje |
| PRUNE1prune exopolyphosphatase 1 | Neužfiksuota | 1 ligoje |
| PSMB8proteasome 20S subunit beta 8 | Neužfiksuota | 1 ligoje |
| SALL1spalt like transcription factor 1 | Neužfiksuota | 1 ligoje |
| SETSET nuclear proto-oncogene | Neužfiksuota | 1 ligoje |
| SLC12A6solute carrier family 12 member 6 | Neužfiksuota | 1 ligoje |
| SLC16A2solute carrier family 16 member 2 | Neužfiksuota | 1 ligoje |
| TAF1TATA-box binding protein associated factor 1 | Neužfiksuota | 1 ligoje |
| TENM3teneurin transmembrane protein 3 | 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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Iš kur tai žinoma
- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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