AtlasKam mes padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Požymis
Abnormally shaped ears
Klinikinis pavadinimas: Abnormal pinna morphology
An abnormality of the pinna, which is also referred to as the auricle or external ear.
Santrauka
- Taip pat vadinama
- Auricular malformation, Deformed ears, Malformed ears, Abnormal form of ears, Deformed auricles, Dysplastic ears, Malformation of auricle, Malformed auricles, Malformed external ears, Minor malformation of the auricles, Poorly defined conchae
- Kūno sistema
- Abnormality of the ear
AtlasKam mes padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
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page$trait$nameAbnormally shaped earsHP:0000377
AtlasKam mes padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Vienu tyrimu sužinokite genus, susijusius su Abnormally shaped ears, ir kitą jūsų genomo dalį.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test90 condition reports read genes linked to this trait
Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.
- Fanconi AnemiaReads 18 of these genesBRCA1BRCA2BRIP1ERCC4FANCAFANCBAbout this report →
- Zellweger Spectrum & Peroxisome Biogenesis DisordersReads 13 of these genesPEX1PEX10PEX11BPEX12PEX13PEX14About this report →
- DNA Repair DiseaseReads 20 of these genesBRCA1BRCA2BRIP1ERCC4FANCAFANCBAbout this report →
- Agammaglobulinaemia (XLA and Autosomal Forms)Reads 8 of these genesBLNKCD79ACD79BIGHMIGLL1PIK3R1About this report →
Show 86 more reports
- Branchio-Oto-Renal Spectrum DisorderReads 3 of these genesEYA1SIX1SIX5About this report →
- Fraser SyndromeReads 3 of these genesFRAS1FREM2GRIP1About this report →
- Other Inherited LeukodystrophiesReads 13 of these genesPEX1PEX10PEX11BPEX12PEX13PEX14About this report →
- Activated PI3K-Delta Syndrome (APDS)Reads 2 of these genesPIK3CDPIK3R1About this report →
- Hereditary Breast and Ovarian Cancer (BRCA1/2)Reads 2 of these genesBRCA1BRCA2About this report →
- Syndromic CraniosynostosisReads 6 of these genesFGFR2FGFR3TWIST1PORRAB23SKIAbout this report →
- Inherited Neurodegenerative DisordersReads 21 of these genesPEX1PEX10PEX11BPEX12PEX13PEX14About this report →
- Primary Lymphoedema & Lymphatic MalformationsReads 4 of these genesADAMTS3CCBE1FAT4PIEZO1About this report →
- Breast and Ovarian Cancer Genes Beyond BRCA1/2Reads 3 of these genesBRIP1PALB2RAD51CAbout this report →
- 3MC Syndrome 1 (MASP1)Reads 1 of these genesMASP1About this report →
- Aarskog-Scott SyndromeReads 1 of these genesFGD1About this report →
- Auriculocondylar Syndrome 2 (PLCB4)Reads 1 of these genesPLCB4About this report →
- Basilicata-Akhtar SyndromeReads 1 of these genesMSL3About this report →
- Bent Bone Dysplasia Syndrome (FGFR2)Reads 1 of these genesFGFR2About this report →
- CEBALID Syndrome (MN1)Reads 1 of these genesMN1About this report →
- CHARGE SyndromeReads 1 of these genesCHD7About this report →
- CystathioninuriaReads 1 of these genesCTHAbout this report →
- DeSanto-Shinawi SyndromeReads 1 of these genesWACAbout this report →
- FANCM-Related Genomic Instability DisorderReads 1 of these genesFANCMAbout this report →
- FAT4-Related Neurodevelopmental DisorderReads 1 of these genesFAT4About this report →
- FGFR3-Related Chondrodysplasias (Achondroplasia and Related Conditions)Reads 1 of these genesFGFR3About this report →
- INTU-Related Skeletal CiliopathyReads 1 of these genesINTUAbout this report →
- Kaufman Oculocerebrofacial SyndromeReads 1 of these genesUBE3BAbout this report →
- MEND SyndromeReads 1 of these genesEBPAbout this report →
- Nail-Patella SyndromeReads 1 of these genesLMX1BAbout this report →
- PALB2 related diseasesReads 1 of these genesPALB2About this report →
- PBX1-Related Kidney and Urinary Tract AnomaliesReads 1 of these genesPBX1About this report →
- PIK3R1-Related DisordersReads 1 of these genesPIK3R1About this report →
- Raine SyndromeReads 1 of these genesFAM20CAbout this report →
- Roberts SyndromeReads 1 of these genesESCO2About this report →
- SF3B4-Related Acrofacial Dysostosis (Nager Syndrome)Reads 1 of these genesSF3B4About this report →
- Townes-Brocks SyndromeReads 1 of these genesSALL1About this report →
- TRAPPC9-Related Intellectual DisabilityReads 1 of these genesTRAPPC9About this report →
- Rare Hereditary Peripheral NeuropathiesReads 15 of these genesPEX1PEX10PEX11BPEX12PEX13PEX14About this report →
- Intellectual DisabilityReads 15 of these genesARID1ADDX3XARID1BMED12NAA10NSD2About this report →
- Congenital Anomalies of the Kidney and Urinary TractReads 3 of these genesEYA1SIX1SIX5About this report →
- Congenital Cranial Dysinnervation DisordersReads 2 of these genesCHN1MAFBAbout this report →
- Fatty Acid Oxidation & Carnitine Cycle DisordersReads 3 of these genesETFAETFBETFDHAbout this report →
- Wolfram Syndrome & WFS1 SpectrumReads 1 of these genesWFS1About this report →
- Ehlers-Danlos SyndromeReads 3 of these genesCHST14DSEPLOD1About this report →
- Other Inborn Errors of ImmunityReads 9 of these genesBLNKCD79ACD79BIGHMIGLL1PIK3CDAbout this report →
- Arrhythmogenic CardiomyopathyReads 2 of these genesDSPJUPAbout this report →
- Coffin-Siris SyndromeReads 2 of these genesARID1AARID1BAbout this report →
- Inherited Congenital Heart DefectsReads 2 of these genesFLNAGATA4About this report →
- Complex Cortical Dysplasia and Frontoparietal PolymicrogyriaReads 2 of these genesTUBG1TUBBAbout this report →
- Epilepsy (Full Panel)Reads 7 of these genesDOCK7FLNACPLX1FRMPD4STXBP1OTUD6BAbout this report →
- Congenital Disorders of GlycosylationReads 5 of these genesCHST14DSEALG3ALG12PMM2About this report →
- Achondrogenesis panelReads 1 of these genesSLC26A2About this report →
- Treacher Collins SyndromeReads 1 of these genesTCOF1About this report →
- TubulinopathiesReads 1 of these genesTUBBAbout this report →
- Epidermolysis BullosaReads 2 of these genesDSPJUPAbout this report →
- Neonatal Diabetes MellitusReads 2 of these genesGATA4PTF1AAbout this report →
- Periventricular Nodular HeterotopiaReads 1 of these genesFLNAAbout this report →
- Lissencephaly Spectrum DisordersReads 2 of these genesTUBG1ACTG1About this report →
- Hereditary SpherocytosisReads 1 of these genesANK1About this report →
- Hereditary Visceral Myopathy, CIPO & MMIHSReads 1 of these genesFLNAAbout this report →
- Hearing Loss and DeafnessReads 4 of these genesSIX1WFS1ACTG1COL11A1About this report →
- Hypertrophic CardiomyopathyReads 3 of these genesETFAETFBETFDHAbout this report →
- Congenital Adrenal HyperplasiaReads 1 of these genesPORAbout this report →
- Diabetes MellitusReads 2 of these genesGATA4PTF1AAbout this report →
- Red Blood Cell Membrane DisordersReads 1 of these genesPIEZO1About this report →
- Hereditary Palmoplantar Keratodermas and Pachyonychia CongenitaReads 2 of these genesGJA1DSPAbout this report →
- Complex Neurodevelopmental Disorder With Motor FeaturesReads 1 of these genesEMC1About this report →
- Epiphyseal and Spondyloepiphyseal DysplasiasReads 1 of these genesSLC26A2About this report →
- Joubert Syndrome And Related DisordersReads 2 of these genesKIF7B9D2About this report →
- Marfan Like SyndromesReads 1 of these genesSKIAbout this report →
- Meckel SyndromeReads 1 of these genesB9D2About this report →
- HyperinsulinismReads 1 of these genesPMM2About this report →
- Hypogonadotropic HypogonadismReads 2 of these genesCHD7SMCHD1About this report →
- Female InfertilityReads 2 of these genesFANCMTP63About this report →
- Cutis LaxaReads 1 of these genesEFEMP2About this report →
- Hereditary Spastic ParaplegiaReads 2 of these genesNIPA1ERLIN2About this report →
- Ectodermal DysplasiasReads 1 of these genesTP63About this report →
- 46,XY Differences of Sex Development and Gonadal DysgenesisReads 1 of these genesGATA4About this report →
- GPI Anchor Biosynthesis DefectsReads 1 of these genesPIGBAbout this report →
- Pontocerebellar Hypoplasia (TSEN54 and MINPP1)Reads 1 of these genesAMPD2About this report →
- Hereditary Congenital & Juvenile CataractReads 1 of these genesWFS1About this report →
- Non-Acquired Combined Pituitary Hormone DeficiencyReads 1 of these genesCNOT1About this report →
- VitreoretinopathyReads 1 of these genesCOL11A1About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 1 of these genesBCORAbout this report →
- Spinal Muscular AtrophyReads 1 of these genesBICD2About this report →
- Amyotrophic Lateral Sclerosis (ALS)Reads 1 of these genesFIG4About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 1 of these genesVAC14About this report →
- Male InfertilityReads 1 of these genesFANCMAbout this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 1 of these genesPEX6About this report →
- Charcot-Marie-Tooth DiseaseReads 1 of these genesFIG4About this report →
Vienu tyrimu sužinokite genus, susijusius su Abnormally shaped ears, ir kitą jūsų genomo dalį.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test176 genų susiję su Abnormally shaped ears
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Abnormally shaped 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 |
|---|---|---|
| ARID1AAT-rich interaction domain 1A | Visada | 1 ligoje |
| CACHD1cache domain containing 1 | Visada | 1 ligoje |
| DOCK7dedicator of cytokinesis 7 | Visada | 1 ligoje |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Visada | 1 ligoje |
| MN1MN1 proto-oncogene, transcriptional regulator | Visada | 1 ligoje |
| SF3B4splicing factor 3b subunit 4 | Visada | 1 ligoje |
| TCOF1treacle ribosome biogenesis factor 1 | Visada | 1 ligoje |
| VSX1visual system homeobox 1 | Visada | 1 ligoje |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Labai dažnai (80–99%) | 1 ligoje |
| CCBE1collagen and calcium binding EGF domains 1 | Labai dažnai (80–99%) | 1 ligoje |
| CHD7chromodomain helicase DNA binding protein 7 | Labai dažnai (80–99%) | 1 ligoje |
| CHST14carbohydrate sulfotransferase 14 | Labai dažnai (80–99%) | 1 ligoje |
| DACT1dishevelled binding antagonist of beta catenin 1 | Labai dažnai (80–99%) | 1 ligoje |
| DDX3XDEAD-box helicase 3 X-linked | Labai dažnai (80–99%) | 1 ligoje |
| DSEdermatan sulfate epimerase | Labai dažnai (80–99%) | 1 ligoje |
| EIF4A3eukaryotic translation initiation factor 4A3 | Labai dažnai (80–99%) | 1 ligoje |
| FAT4FAT atypical cadherin 4 | Labai dažnai (80–99%) | 1 ligoje |
| FLNAfilamin A | Labai dažnai (80–99%) | 1 ligoje |
| IGBP1immunoglobulin binding protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| KIF7kinesin family member 7 | Labai dažnai (80–99%) | 1 ligoje |
| PEX1peroxisomal biogenesis factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| PEX10peroxisomal biogenesis factor 10 | Labai dažnai (80–99%) | 1 ligoje |
| PEX11Bperoxisomal biogenesis factor 11 beta | Labai dažnai (80–99%) | 1 ligoje |
| PEX12peroxisomal biogenesis factor 12 | Labai dažnai (80–99%) | 1 ligoje |
| PEX13peroxisomal biogenesis factor 13 | Labai dažnai (80–99%) | 1 ligoje |
| PEX14peroxisomal biogenesis factor 14 | Labai dažnai (80–99%) | 1 ligoje |
| PEX16peroxisomal biogenesis factor 16 | Labai dažnai (80–99%) | 1 ligoje |
| PEX19peroxisomal biogenesis factor 19 | Labai dažnai (80–99%) | 1 ligoje |
| PEX2peroxisomal biogenesis factor 2 | Labai dažnai (80–99%) | 1 ligoje |
| PEX26peroxisomal biogenesis factor 26 | Labai dažnai (80–99%) | 1 ligoje |
| PEX3peroxisomal biogenesis factor 3 | Labai dažnai (80–99%) | 1 ligoje |
| PEX5peroxisomal biogenesis factor 5 | Labai dažnai (80–99%) | 1 ligoje |
| PEX6peroxisomal biogenesis factor 6 | Labai dažnai (80–99%) | 1 ligoje |
| SALL1spalt like transcription factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| SEMA3Esemaphorin 3E | Labai dažnai (80–99%) | 1 ligoje |
| TBCEtubulin folding cofactor E | Labai dažnai (80–99%) | 1 ligoje |
| TFAP2Atranscription factor AP-2 alpha | Labai dažnai (80–99%) | 1 ligoje |
| ZNHIT3zinc finger HIT-type containing 3 | Labai dažnai (80–99%) | 1 ligoje |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Dažnai (30–79%) | 1 ligoje |
| ANK1ankyrin 1 | Dažnai (30–79%) | 1 ligoje |
Rodyti dar 136 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ARID1BAT-rich interaction domain 1B | Dažnai (30–79%) | 2 ligose |
| BCORBCL6 corepressor | Dažnai (30–79%) | 2 ligose |
| CHRNA7cholinergic receptor nicotinic alpha 7 subunit | Dažnai (30–79%) | 1 ligoje |
| CPLX1complexin 1 | Dažnai (30–79%) | 1 ligoje |
| CTBP1C-terminal binding protein 1 | Dažnai (30–79%) | 1 ligoje |
| DLX5distal-less homeobox 5 | Dažnai (30–79%) | 1 ligoje |
| DONSONDNA replication fork stabilization factor DONSON | Dažnai (30–79%) | 1 ligoje |
| EDN1endothelin 1 | Dažnai (30–79%) | 1 ligoje |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Dažnai (30–79%) | 2 ligose |
| EYA1EYA transcriptional coactivator and phosphatase 1 | Dažnai (30–79%) | 1 ligoje |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| FGF10fibroblast growth factor 10 | Dažnai (30–79%) | 1 ligoje |
| FGFR2fibroblast growth factor receptor 2 | Dažnai (30–79%) | 3 ligose |
| FGFR3fibroblast growth factor receptor 3 | Dažnai (30–79%) | 2 ligose |
| FGFRL1fibroblast growth factor receptor like 1 | Dažnai (30–79%) | 1 ligoje |
| FIG4FIG4 phosphoinositide 5-phosphatase | Dažnai (30–79%) | 1 ligoje |
| FRAS1Fraser extracellular matrix complex subunit 1 | Dažnai (30–79%) | 1 ligoje |
| FREM2FRAS1 related extracellular matrix 2 | Dažnai (30–79%) | 1 ligoje |
| GATA4GATA binding protein 4 | Dažnai (30–79%) | 1 ligoje |
| GJA1gap junction protein alpha 1 | Dažnai (30–79%) | 2 ligose |
| GNAI3G protein subunit alpha i3 | Dažnai (30–79%) | 1 ligoje |
| GRIP1glutamate receptor interacting protein 1 | Dažnai (30–79%) | 1 ligoje |
| HOXA2homeobox A2 | Dažnai (30–79%) | 1 ligoje |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Dažnai (30–79%) | 1 ligoje |
| KLF13KLF transcription factor 13 | Dažnai (30–79%) | 1 ligoje |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Dažnai (30–79%) | 1 ligoje |
| MED12mediator complex subunit 12 | Dažnai (30–79%) | 1 ligoje |
| MSL3MSL complex subunit 3 | Dažnai (30–79%) | 1 ligoje |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Dažnai (30–79%) | 2 ligose |
| NIPA1NIPA magnesium transporter 1 | Dažnai (30–79%) | 1 ligoje |
| NIPA2NIPA magnesium transporter 2 | Dažnai (30–79%) | 1 ligoje |
| NSD2nuclear receptor binding SET domain protein 2 | Dažnai (30–79%) | 1 ligoje |
| PLCB4phospholipase C beta 4 | Dažnai (30–79%) | 1 ligoje |
| RNF2ring finger protein 2 | Dažnai (30–79%) | 1 ligoje |
| SIX1SIX homeobox 1 | Dažnai (30–79%) | 1 ligoje |
| SIX5SIX homeobox 5 | Dažnai (30–79%) | 1 ligoje |
| TBX15T-box transcription factor 15 | Dažnai (30–79%) | 1 ligoje |
| TRAPPC9trafficking protein particle complex subunit 9 | Dažnai (30–79%) | 1 ligoje |
| TUBG1tubulin gamma 1 | Dažnai (30–79%) | 1 ligoje |
| TWIST1twist family bHLH transcription factor 1 | Dažnai (30–79%) | 1 ligoje |
| VAC14VAC14 component of PIKFYVE complex | Dažnai (30–79%) | 1 ligoje |
| WFS1wolframin ER transmembrane glycoprotein | Dažnai (30–79%) | 1 ligoje |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Kartais (5–29%) | 2 ligose |
| BLNKB cell linker | Kartais (5–29%) | 1 ligoje |
| BRCA1BRCA1 DNA repair associated | Kartais (5–29%) | 1 ligoje |
| BRCA2BRCA2 DNA repair associated | Kartais (5–29%) | 1 ligoje |
| BRIP1BRCA1 interacting DNA helicase 1 | Kartais (5–29%) | 1 ligoje |
| CD79ACD79a molecule | Kartais (5–29%) | 1 ligoje |
| CD79BCD79b molecule | Kartais (5–29%) | 1 ligoje |
| CHN1chimerin 1 | Kartais (5–29%) | 1 ligoje |
| CNOT1CCR4-NOT transcription complex subunit 1 | Kartais (5–29%) | 1 ligoje |
| COLEC10collectin subfamily member 10 | Kartais (5–29%) | 2 ligose |
| COLEC11collectin subfamily member 11 | Kartais (5–29%) | 1 ligoje |
| CTHcystathionine gamma-lyase | Kartais (5–29%) | 1 ligoje |
| DSPdesmoplakin | Kartais (5–29%) | 1 ligoje |
| EMC1ER membrane protein complex subunit 1 | Kartais (5–29%) | 1 ligoje |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Kartais (5–29%) | 1 ligoje |
| ERLIN2ER lipid raft associated 2 | Kartais (5–29%) | 2 ligose |
| FAAP100FA core complex associated protein 100 | Kartais (5–29%) | 1 ligoje |
| FAM20CFAM20C golgi associated secretory pathway kinase | Kartais (5–29%) | 1 ligoje |
| FANCAFA complementation group A | Kartais (5–29%) | 1 ligoje |
| FANCBFA complementation group B | Kartais (5–29%) | 1 ligoje |
| FANCCFA complementation group C | Kartais (5–29%) | 1 ligoje |
| FANCD2FA complementation group D2 | Kartais (5–29%) | 1 ligoje |
| FANCEFA complementation group E | Kartais (5–29%) | 1 ligoje |
| FANCFFA complementation group F | Kartais (5–29%) | 1 ligoje |
| FANCGFA complementation group G | Kartais (5–29%) | 1 ligoje |
| FANCIFA complementation group I | Kartais (5–29%) | 1 ligoje |
| FANCLFA complementation group L | Kartais (5–29%) | 1 ligoje |
| FANCMFA complementation group M | Kartais (5–29%) | 1 ligoje |
| FRMPD4FERM and PDZ domain containing 4 | Kartais (5–29%) | 1 ligoje |
| IGHMimmunoglobulin heavy constant mu | Kartais (5–29%) | 1 ligoje |
| IGLL1immunoglobulin lambda like polypeptide 1 | Kartais (5–29%) | 1 ligoje |
| JUPjunction plakoglobin | Kartais (5–29%) | 1 ligoje |
| LMX1BLIM homeobox transcription factor 1 beta | Kartais (5–29%) | 1 ligoje |
| LRRC8Aleucine rich repeat containing 8 VRAC subunit A | Kartais (5–29%) | 1 ligoje |
| MAD2L2mitotic arrest deficient 2 like 2 | Kartais (5–29%) | 1 ligoje |
| MAFBMAF bZIP transcription factor B | Kartais (5–29%) | 1 ligoje |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Kartais (5–29%) | 1 ligoje |
| MAPRE2microtubule associated protein RP/EB family member 2 | Kartais (5–29%) | 1 ligoje |
| MASP1MBL associated serine protease 1 | Kartais (5–29%) | 1 ligoje |
| PALB2partner and localizer of BRCA2 | Kartais (5–29%) | 1 ligoje |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Kartais (5–29%) | 1 ligoje |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Kartais (5–29%) | 1 ligoje |
| PMM2phosphomannomutase 2 | Kartais (5–29%) | 1 ligoje |
| PORcytochrome p450 oxidoreductase | Kartais (5–29%) | 2 ligose |
| PURApurine rich element binding protein A | Kartais (5–29%) | 1 ligoje |
| RAD51RAD51 recombinase | Kartais (5–29%) | 1 ligoje |
| RAD51CRAD51 paralog C | Kartais (5–29%) | 1 ligoje |
| RAI1retinoic acid induced 1 | Kartais (5–29%) | 1 ligoje |
| RBMXRNA binding motif protein X-linked | Kartais (5–29%) | 1 ligoje |
| RFWD3ring finger and WD repeat domain 3 | Kartais (5–29%) | 1 ligoje |
| SALL4spalt like transcription factor 4 | Kartais (5–29%) | 1 ligoje |
| SLC26A2solute carrier family 26 member 2 | Kartais (5–29%) | 1 ligoje |
| SLX4SLX4 structure-specific endonuclease subunit | Kartais (5–29%) | 1 ligoje |
| SMARCD2SWI/SNF related BAF chromatin remodeling complex subunit D2 | Kartais (5–29%) | 1 ligoje |
| SPI1Spi-1 proto-oncogene | Kartais (5–29%) | 1 ligoje |
| STXBP1syntaxin binding protein 1 | Kartais (5–29%) | 1 ligoje |
| TCF3transcription factor 3 | Kartais (5–29%) | 1 ligoje |
| TP63tumor protein p63 | Kartais (5–29%) | 1 ligoje |
| TUBBtubulin beta class I | Kartais (5–29%) | 1 ligoje |
| TWIST2twist family bHLH transcription factor 2 | Kartais (5–29%) | 1 ligoje |
| UBE2Tubiquitin conjugating enzyme E2 T | Kartais (5–29%) | 1 ligoje |
| XRCC2X-ray repair cross complementing 2 | Kartais (5–29%) | 1 ligoje |
| EBPEBP cholestenol delta-isomerase | Retai (1–4 %) | 2 ligose |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Retai (1–4 %) | 1 ligoje |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Retai (1–4 %) | 1 ligoje |
| ACTG1actin gamma 1 | Neužfiksuota | 1 ligoje |
| AMPD2adenosine monophosphate deaminase 2 | Neužfiksuota | 1 ligoje |
| ATRATR checkpoint kinase | Neužfiksuota | 1 ligoje |
| B9D2B9 domain containing 2 | Neužfiksuota | 1 ligoje |
| BICD2BICD cargo adaptor 2 | Neužfiksuota | 1 ligoje |
| CDK10cyclin dependent kinase 10 | Neužfiksuota | 1 ligoje |
| COL11A1collagen type XI alpha 1 chain | Neužfiksuota | 1 ligoje |
| CUL4Bcullin 4B | Neužfiksuota | 1 ligoje |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Neužfiksuota | 1 ligoje |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Neužfiksuota | 1 ligoje |
| ETFAelectron transfer flavoprotein subunit alpha | Neužfiksuota | 1 ligoje |
| ETFBelectron transfer flavoprotein subunit beta | Neužfiksuota | 1 ligoje |
| ETFDHelectron transfer flavoprotein dehydrogenase | Neužfiksuota | 1 ligoje |
| INTUinturned planar cell polarity protein | Neužfiksuota | 1 ligoje |
| KDM5Blysine demethylase 5B | Neužfiksuota | 1 ligoje |
| MEOX1mesenchyme homeobox 1 | Neužfiksuota | 1 ligoje |
| ORC4origin recognition complex subunit 4 | Neužfiksuota | 1 ligoje |
| OTUD6BOTU deubiquitinase 6B | Neužfiksuota | 1 ligoje |
| PBX1PBX homeobox 1 | Neužfiksuota | 1 ligoje |
| PIEZO1piezo type mechanosensitive ion channel component 1 (Er blood group) | Neužfiksuota | 1 ligoje |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Neužfiksuota | 1 ligoje |
| PTF1Apancreas associated transcription factor 1a | Neužfiksuota | 1 ligoje |
| RAB23RAB23, member RAS oncogene family | Neužfiksuota | 1 ligoje |
| SKISKI proto-oncogene | Neužfiksuota | 1 ligoje |
| SMSspermine synthase | Neužfiksuota | 1 ligoje |
| UBE3Bubiquitin protein ligase E3B | Neužfiksuota | 1 ligoje |
| WACWW domain containing adaptor with coiled-coil | Neužfiksuota | 1 ligoje |
| WNT7AWnt family member 7A | Neužfiksuota | 1 ligoje |
| ZBTB18zinc finger and BTB domain containing 18 | 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.
Siauresni požymiai
- Large ears280 genų
- Prominent ear226 genų
- Cupped ear79 genų
- Simple ear32 genų
- Abnormal earlobe29 genų
- Abnormal helix morphology26 genų
- Abnormal antihelix morphology15 genų
- Thickened ears11 genų
- Lop ear9 genų
- Long ear7 genų
- Round ear7 genų
- Crumpled ear6 genų
- Abnormal tragus morphology4 genų
- Absent/small external ear4 genų
- Calcification of the auricular cartilage4 genų
- Question mark ear4 genų
- Abnormal antitragus morphology3 genų
- Short ear3 genų
- Satyr ear2 genų
- Auricular pit1 genas
- Auricular tag1 genas
- Chondritis of pinna1 genas
- Cystic lesions of the pinnae1 genas
- Deformed external ear on one side1 genas
- Extra concha fold1 genas
- Hypertrophic auricular cartilage1 genas
- Abnormal external ear cartilage morphology
- Abnormal location of ears
Platesni požymiai
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 2026.10.19-9814e911.
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