Požymis
Prominent ear
Klinikinis pavadinimas: Protruding ear
Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).
Santrauka
- Taip pat vadinama
- Prominent ears, Protruding ears, Otapostasis
- Kūno sistema
- Abnormality of the ear
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to Prominent ear, and the rest of your genome, with one test.
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Įsigyti savo Genome Test226 genų susiję su Prominent ear
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Prominent ear. 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 |
|---|---|---|
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Visada | 2 ligose |
| AMOTL1angiomotin like 1 | Visada | 1 ligoje |
| CCDC32coiled-coil domain containing 32 | Visada | 1 ligoje |
| CEP295centrosomal protein 295 | Visada | 1 ligoje |
| CLCF1cardiotrophin like cytokine factor 1 | Visada | 1 ligoje |
| DSEdermatan sulfate epimerase | Visada | 2 ligose |
| FIBPFGF1 intracellular binding protein | Visada | 2 ligose |
| IFT122intraflagellar transport 122 | Visada | 1 ligoje |
| IFT140intraflagellar transport 140 | Visada | 1 ligoje |
| KDM6Alysine demethylase 6A | Visada | 3 ligose |
| KMT2Dlysine methyltransferase 2D | Visada | 2 ligose |
| LGI4leucine rich repeat LGI family member 4 | Visada | 1 ligoje |
| MYMXmyomixer, myoblast fusion factor | Visada | 1 ligoje |
| NAA80N-alpha-acetyltransferase 80, NatH catalytic subunit | Visada | 1 ligoje |
| NECTIN1nectin cell adhesion molecule 1 | Visada | 2 ligose |
| NSD2nuclear receptor binding SET domain protein 2 | Visada | 1 ligoje |
| PYCR1pyrroline-5-carboxylate reductase 1 | Visada | 1 ligoje |
| RNU5B-1RNA, U5B small nuclear 1 | Visada | 1 ligoje |
| RPS6KA3ribosomal protein S6 kinase A3 | Visada | 2 ligose |
| SONSON DNA and RNA binding protein | Visada | 2 ligose |
| SPIN4spindlin family member 4 | Visada | 1 ligoje |
| TASP1taspase 1 | Visada | 1 ligoje |
| TRAIPTRAF interacting protein | Visada | 1 ligoje |
| TRPS1transcriptional repressor GATA binding 1 | Visada | 4 ligose |
| TUBGCP2tubulin gamma complex component 2 | Visada | 1 ligoje |
| UBA2ubiquitin like modifier activating enzyme 2 | Visada | 1 ligoje |
| ZNF407zinc finger protein 407 | Visada | 1 ligoje |
| ANKRD11ankyrin repeat domain 11 | Labai dažnai (80–99%) | 2 ligose |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Labai dažnai (80–99%) | 1 ligoje |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | 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%) | 2 ligose |
| CLIP2CAP-Gly domain containing linker protein 2 | Labai dažnai (80–99%) | 1 ligoje |
| DCAF17DDB1 and CUL4 associated factor 17 | Labai dažnai (80–99%) | 2 ligose |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Labai dažnai (80–99%) | 1 ligoje |
| EIF4Heukaryotic translation initiation factor 4H | Labai dažnai (80–99%) | 1 ligoje |
| ELNelastin | Labai dažnai (80–99%) | 2 ligose |
| EXT1exostosin glycosyltransferase 1 | Labai dažnai (80–99%) | 1 ligoje |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Labai dažnai (80–99%) | 1 ligoje |
| FOXG1forkhead box G1 | Labai dažnai (80–99%) | 2 ligose |
Rodyti dar 186 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| 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 |
| LIMK1LIM domain kinase 1 | Labai dažnai (80–99%) | 1 ligoje |
| MBTPS2membrane bound transcription factor peptidase, site 2 | 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 |
| NKAPNFKB activating protein | Labai dažnai (80–99%) | 1 ligoje |
| PQBP1polyglutamine binding protein 1 | Labai dažnai (80–99%) | 2 ligose |
| RAD21RAD21 cohesin complex component | Labai dažnai (80–99%) | 1 ligoje |
| RFC2replication factor C subunit 2 | Labai dažnai (80–99%) | 1 ligoje |
| STX1Asyntaxin 1A | Labai dažnai (80–99%) | 1 ligoje |
| TAF1TATA-box binding protein associated factor 1 | Labai dažnai (80–99%) | 2 ligose |
| TBL2transducin beta like 2 | Labai dažnai (80–99%) | 1 ligoje |
| TMEM270transmembrane protein 270 | Labai dažnai (80–99%) | 1 ligoje |
| VPS37DVPS37D subunit of ESCRT-I | Labai dažnai (80–99%) | 1 ligoje |
| AARS1alanyl-tRNA synthetase 1 | Dažnai (30–79%) | 2 ligose |
| ARXaristaless related homeobox | Dažnai (30–79%) | 2 ligose |
| BCL11ABCL11 transcription factor A | Dažnai (30–79%) | 1 ligoje |
| BMP1bone morphogenetic protein 1 | Dažnai (30–79%) | 1 ligoje |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Dažnai (30–79%) | 2 ligose |
| CREBBPCREB binding lysine acetyltransferase | Dažnai (30–79%) | 1 ligoje |
| CUL7cullin 7 | Dažnai (30–79%) | 1 ligoje |
| DLX4distal-less homeobox 4 | Dažnai (30–79%) | 1 ligoje |
| FGFR1fibroblast growth factor receptor 1 | Dažnai (30–79%) | 1 ligoje |
| FIG4FIG4 phosphoinositide 5-phosphatase | Dažnai (30–79%) | 1 ligoje |
| FMR1fragile X messenger ribonucleoprotein 1 | Dažnai (30–79%) | 1 ligoje |
| H19H19 imprinted maternally expressed transcript | Dažnai (30–79%) | 1 ligoje |
| HEATR3HEAT repeat containing 3 | Dažnai (30–79%) | 1 ligoje |
| IGF2insulin like growth factor 2 | Dažnai (30–79%) | 1 ligoje |
| INTS1integrator complex subunit 1 | Dažnai (30–79%) | 1 ligoje |
| KCNK9potassium two pore domain channel subfamily K member 9 | Dažnai (30–79%) | 1 ligoje |
| KDM5Clysine demethylase 5C | Dažnai (30–79%) | 2 ligose |
| KDM6Blysine demethylase 6B | Dažnai (30–79%) | 1 ligoje |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Dažnai (30–79%) | 1 ligoje |
| MYH3myosin heavy chain 3 | Dažnai (30–79%) | 1 ligoje |
| NALCNsodium leak channel, non-selective | Dažnai (30–79%) | 1 ligoje |
| NAV3neuron navigator 3 | Dažnai (30–79%) | 1 ligoje |
| NHSNHS actin remodeling regulator | Dažnai (30–79%) | 1 ligoje |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Dažnai (30–79%) | 2 ligose |
| NSRP1nuclear speckle splicing regulatory protein 1 | Dažnai (30–79%) | 1 ligoje |
| OBSL1obscurin like cytoskeletal adaptor 1 | Dažnai (30–79%) | 2 ligose |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Dažnai (30–79%) | 1 ligoje |
| PACS1phosphofurin acidic cluster sorting protein 1 | Dažnai (30–79%) | 1 ligoje |
| PGM2L1phosphoglucomutase 2 like 1 | Dažnai (30–79%) | 1 ligoje |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Dažnai (30–79%) | 1 ligoje |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Dažnai (30–79%) | 1 ligoje |
| PLK4polo like kinase 4 | Dažnai (30–79%) | 1 ligoje |
| POU3F3POU class 3 homeobox 3 | Dažnai (30–79%) | 1 ligoje |
| PUS7pseudouridine synthase 7 | Dažnai (30–79%) | 1 ligoje |
| PYCR2pyrroline-5-carboxylate reductase 2 | Dažnai (30–79%) | 1 ligoje |
| RB1RB transcriptional corepressor 1 | Dažnai (30–79%) | 1 ligoje |
| RELREL proto-oncogene, NF-kB subunit | Dažnai (30–79%) | 1 ligoje |
| RPL10ribosomal protein L10 | Dažnai (30–79%) | 3 ligose |
| SCARF2scavenger receptor class F member 2 | Dažnai (30–79%) | 2 ligose |
| SFRP4secreted frizzled related protein 4 | Dažnai (30–79%) | 1 ligoje |
| SH3PXD2BSH3 and PX domains 2B | Dažnai (30–79%) | 2 ligose |
| TET3tet methylcytosine dioxygenase 3 | Dažnai (30–79%) | 1 ligoje |
| TGFBR1transforming growth factor beta receptor 1 | Dažnai (30–79%) | 1 ligoje |
| TNNI2troponin I2, fast skeletal type | Dažnai (30–79%) | 1 ligoje |
| TNNT3troponin T3, fast skeletal type | Dažnai (30–79%) | 1 ligoje |
| TPM2tropomyosin 2 | Dažnai (30–79%) | 1 ligoje |
| TRMT1tRNA methyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| TUBGCP4tubulin gamma complex component 4 | Dažnai (30–79%) | 1 ligoje |
| TUBGCP6tubulin gamma complex component 6 | Dažnai (30–79%) | 1 ligoje |
| TXNL4Athioredoxin like 4A | Dažnai (30–79%) | 1 ligoje |
| WBP4WW domain binding protein 4 | Dažnai (30–79%) | 1 ligoje |
| WDR19WD repeat domain 19 | Dažnai (30–79%) | 1 ligoje |
| XPO1exportin 1 | Dažnai (30–79%) | 1 ligoje |
| ADNPactivity dependent neuroprotector homeobox | Kartais (5–29%) | 1 ligoje |
| AHDC1AT-hook DNA binding motif containing 1 | Kartais (5–29%) | 2 ligose |
| APCAPC regulator of Wnt signaling pathway | Kartais (5–29%) | 1 ligoje |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Kartais (5–29%) | 1 ligoje |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Kartais (5–29%) | 1 ligoje |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Kartais (5–29%) | 1 ligoje |
| BIN1bridging integrator 1 | Kartais (5–29%) | 1 ligoje |
| CARS1cysteinyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| CHRNA7cholinergic receptor nicotinic alpha 7 subunit | Kartais (5–29%) | 1 ligoje |
| COL2A1collagen type II alpha 1 chain | Kartais (5–29%) | 1 ligoje |
| COL4A1collagen type IV alpha 1 chain | Kartais (5–29%) | 1 ligoje |
| CRPPACDP-L-ribitol pyrophosphorylase A | Kartais (5–29%) | 1 ligoje |
| DAG1dystroglycan 1 | Kartais (5–29%) | 1 ligoje |
| DBR1debranching RNA lariats 1 | Kartais (5–29%) | 1 ligoje |
| DHX37DEAH-box helicase 37 | Kartais (5–29%) | 1 ligoje |
| DOCK6dedicator of cytokinesis 6 | Kartais (5–29%) | 1 ligoje |
| DPP6dipeptidyl peptidase like 6 | Kartais (5–29%) | 1 ligoje |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Kartais (5–29%) | 2 ligose |
| EDEM3ER degradation enhancing alpha-mannosidase like protein 3 | Kartais (5–29%) | 1 ligoje |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Kartais (5–29%) | 2 ligose |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Kartais (5–29%) | 1 ligoje |
| FAM20CFAM20C golgi associated secretory pathway kinase | Kartais (5–29%) | 1 ligoje |
| FBLN5fibulin 5 | Kartais (5–29%) | 1 ligoje |
| FBN1fibrillin 1 | Kartais (5–29%) | 1 ligoje |
| FBXO11F-box protein 11 | Kartais (5–29%) | 1 ligoje |
| FKRPfukutin related protein | Kartais (5–29%) | 1 ligoje |
| FKTNfukutin | Kartais (5–29%) | 1 ligoje |
| FN1fibronectin 1 | Kartais (5–29%) | 1 ligoje |
| GABRA3gamma-aminobutyric acid type A receptor subunit alpha3 | Kartais (5–29%) | 1 ligoje |
| GJA1gap junction protein alpha 1 | Kartais (5–29%) | 1 ligoje |
| GJB3gap junction protein beta 3 | Kartais (5–29%) | 1 ligoje |
| GJB4gap junction protein beta 4 | Kartais (5–29%) | 1 ligoje |
| GTF2E2general transcription factor IIE subunit 2 | Kartais (5–29%) | 1 ligoje |
| GTF2H5general transcription factor IIH subunit 5 | Kartais (5–29%) | 1 ligoje |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Kartais (5–29%) | 2 ligose |
| IFT56intraflagellar transport 56 | Kartais (5–29%) | 1 ligoje |
| INSRinsulin receptor | Kartais (5–29%) | 1 ligoje |
| JARID2jumonji and AT-rich interaction domain containing 2 | Kartais (5–29%) | 1 ligoje |
| KDSR3-ketodihydrosphingosine reductase | Kartais (5–29%) | 1 ligoje |
| KIF11kinesin family member 11 | Kartais (5–29%) | 2 ligose |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Kartais (5–29%) | 1 ligoje |
| LMNB1lamin B1 | Kartais (5–29%) | 1 ligoje |
| LRP4LDL receptor related protein 4 | 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 |
| MED12mediator complex subunit 12 | Kartais (5–29%) | 1 ligoje |
| MEGF8multiple EGF like domains 8 | Kartais (5–29%) | 1 ligoje |
| MPLKIPM-phase specific PLK1 interacting protein | Kartais (5–29%) | 1 ligoje |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Kartais (5–29%) | 1 ligoje |
| NDPnorrin cystine knot growth factor NDP | Kartais (5–29%) | 1 ligoje |
| NDST1N-deacetylase and N-sulfotransferase 1 | Kartais (5–29%) | 1 ligoje |
| NEK1NIMA related kinase 1 | Kartais (5–29%) | 1 ligoje |
| NF1neurofibromin 1 | Kartais (5–29%) | 1 ligoje |
| POLA1DNA polymerase alpha 1, catalytic subunit | Kartais (5–29%) | 1 ligoje |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Kartais (5–29%) | 1 ligoje |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Kartais (5–29%) | 1 ligoje |
| POMKprotein O-mannose kinase | Kartais (5–29%) | 1 ligoje |
| POMT1protein O-mannosyltransferase 1 | Kartais (5–29%) | 1 ligoje |
| POMT2protein O-mannosyltransferase 2 | Kartais (5–29%) | 1 ligoje |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Kartais (5–29%) | 1 ligoje |
| RFX7regulatory factor X7 | Kartais (5–29%) | 1 ligoje |
| RNF113Aring finger protein 113A | Kartais (5–29%) | 1 ligoje |
| RXYLT1ribitol xylosyltransferase 1 | Kartais (5–29%) | 1 ligoje |
| RYR1ryanodine receptor 1 | Kartais (5–29%) | 1 ligoje |
| SIN3ASIN3 transcription regulator family member A | Kartais (5–29%) | 1 ligoje |
| SKISKI proto-oncogene | Kartais (5–29%) | 1 ligoje |
| SLC1A4solute carrier family 1 member 4 | Kartais (5–29%) | 1 ligoje |
| SLC4A10solute carrier family 4 member 10 | Kartais (5–29%) | 1 ligoje |
| SMC5structural maintenance of chromosomes 5 | Kartais (5–29%) | 1 ligoje |
| SMPD4sphingomyelin phosphodiesterase 4 | Kartais (5–29%) | 1 ligoje |
| SPEGstriated muscle enriched protein kinase | Kartais (5–29%) | 1 ligoje |
| SPOPspeckle type BTB/POZ protein | Kartais (5–29%) | 1 ligoje |
| TARS1threonyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| TBX4T-box transcription factor 4 | Kartais (5–29%) | 1 ligoje |
| TP53RKTP53 regulating kinase | Kartais (5–29%) | 1 ligoje |
| TTNtitin | Kartais (5–29%) | 1 ligoje |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Kartais (5–29%) | 1 ligoje |
| WNT4Wnt family member 4 | Kartais (5–29%) | 1 ligoje |
| WNT7AWnt family member 7A | Kartais (5–29%) | 1 ligoje |
| ZDHHC9zDHHC palmitoyltransferase 9 | Kartais (5–29%) | 2 ligose |
| BSNDbarttin CLCNK type accessory subunit beta | Retai (1–4 %) | 1 ligoje |
| CLCNKAchloride voltage-gated channel Ka | Retai (1–4 %) | 1 ligoje |
| CLCNKBchloride voltage-gated channel Kb | Retai (1–4 %) | 1 ligoje |
| CTCFCCCTC-binding factor | Retai (1–4 %) | 1 ligoje |
| EBF3EBF transcription factor 3 | Retai (1–4 %) | 1 ligoje |
| GJA5gap junction protein alpha 5 | Retai (1–4 %) | 1 ligoje |
| GJA8gap junction protein alpha 8 | Retai (1–4 %) | 1 ligoje |
| RNU4-2RNA, U4 small nuclear 2 | Retai (1–4 %) | 1 ligoje |
| SPTBN1spectrin beta, non-erythrocytic 1 | Retai (1–4 %) | 1 ligoje |
| TP63tumor protein p63 | Retai (1–4 %) | 1 ligoje |
| ZNF462zinc finger protein 462 | Retai (1–4 %) | 1 ligoje |
| ANTXR1ANTXR cell adhesion molecule 1 | Neužfiksuota | 1 ligoje |
| ATP6V1AATPase H+ transporting V1 subunit A | Neužfiksuota | 1 ligoje |
| B3GLCTbeta 3-glucosyltransferase | Neužfiksuota | 1 ligoje |
| BLMBLM RecQ like helicase | Neužfiksuota | 1 ligoje |
| BMP4bone morphogenetic protein 4 | Neužfiksuota | 1 ligoje |
| CAMK2Gcalcium/calmodulin dependent protein kinase II gamma | Neužfiksuota | 1 ligoje |
| CAMTA1calmodulin binding transcription activator 1 | Neužfiksuota | 1 ligoje |
| CLTCclathrin heavy chain | Neužfiksuota | 1 ligoje |
| COL6A1collagen type VI alpha 1 chain | Neužfiksuota | 1 ligoje |
| EDNRAendothelin receptor type A | Neužfiksuota | 1 ligoje |
| EIF4A3eukaryotic translation initiation factor 4A3 | Neužfiksuota | 1 ligoje |
| FBXL4F-box and leucine rich repeat protein 4 | Neužfiksuota | 1 ligoje |
| FLNAfilamin A | Neužfiksuota | 1 ligoje |
| FRMD4AFERM domain containing 4A | Neužfiksuota | 1 ligoje |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Neužfiksuota | 1 ligoje |
| KCTD1potassium channel tetramerization domain containing 1 | Neužfiksuota | 1 ligoje |
| MAB21L1mab-21 like 1 | Neužfiksuota | 1 ligoje |
| MBD5methyl-CpG binding domain protein 5 | Neužfiksuota | 1 ligoje |
| OTUD6BOTU deubiquitinase 6B | Neužfiksuota | 1 ligoje |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Neužfiksuota | 1 ligoje |
| PRUNE1prune exopolyphosphatase 1 | Neužfiksuota | 1 ligoje |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Neužfiksuota | 1 ligoje |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Neužfiksuota | 1 ligoje |
| SRCAPSnf2 related CREBBP activator protein | Neužfiksuota | 1 ligoje |
| TBX22T-box transcription factor 22 | Neužfiksuota | 1 ligoje |
| TFAP2Btranscription factor AP-2 beta | 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.
Platesni požymiai
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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.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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