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Cecha
Abnormally shaped ears
Nazwa kliniczna: Abnormal pinna morphology
An abnormality of the pinna, which is also referred to as the auricle or external ear.
Podsumowanie
- Znana także jako
- 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
- Układ organizmu
- Abnormality of the ear
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page$trait$nameAbnormally shaped earsHP:0000377
AtlasDla kogo jest Dante LabsNasza naukaProduktyWyniki
Zaloguj sięZapytajZsekwencjonuj swój genom↗
Odczytaj geny powiązane z Abnormally shaped ears oraz resztę swojego genomu za pomocą jednego badania.
Od 449 $Bezpłatna wysyłka · Wyniki w ciągu 6–8 tygodni
Zamawiam 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 →
Odczytaj geny powiązane z Abnormally shaped ears oraz resztę swojego genomu za pomocą jednego badania.
Od 449 $Bezpłatna wysyłka · Wyniki w ciągu 6–8 tygodni
Zamawiam Genome Test176 genów powiązanych z Abnormally shaped ears
Zmiany w tych genach powodują rzadkie choroby, w których występuje Abnormally shaped ears. 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 |
|---|---|---|
| ARID1AAT-rich interaction domain 1A | Zawsze | W 1 chorobie |
| CACHD1cache domain containing 1 | Zawsze | W 1 chorobie |
| DOCK7dedicator of cytokinesis 7 | Zawsze | W 1 chorobie |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Zawsze | W 1 chorobie |
| MN1MN1 proto-oncogene, transcriptional regulator | Zawsze | W 1 chorobie |
| SF3B4splicing factor 3b subunit 4 | Zawsze | W 1 chorobie |
| TCOF1treacle ribosome biogenesis factor 1 | Zawsze | W 1 chorobie |
| VSX1visual system homeobox 1 | Zawsze | W 1 chorobie |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Bardzo często (80–99%) | W 1 chorobie |
| CCBE1collagen and calcium binding EGF domains 1 | Bardzo często (80–99%) | W 1 chorobie |
| CHD7chromodomain helicase DNA binding protein 7 | Bardzo często (80–99%) | W 1 chorobie |
| CHST14carbohydrate sulfotransferase 14 | Bardzo często (80–99%) | W 1 chorobie |
| DACT1dishevelled binding antagonist of beta catenin 1 | Bardzo często (80–99%) | W 1 chorobie |
| DDX3XDEAD-box helicase 3 X-linked | Bardzo często (80–99%) | W 1 chorobie |
| DSEdermatan sulfate epimerase | Bardzo często (80–99%) | W 1 chorobie |
| EIF4A3eukaryotic translation initiation factor 4A3 | Bardzo często (80–99%) | W 1 chorobie |
| FAT4FAT atypical cadherin 4 | Bardzo często (80–99%) | W 1 chorobie |
| FLNAfilamin A | Bardzo często (80–99%) | W 1 chorobie |
| IGBP1immunoglobulin binding protein 1 | Bardzo często (80–99%) | W 1 chorobie |
| KIF7kinesin family member 7 | Bardzo często (80–99%) | W 1 chorobie |
| PEX1peroxisomal biogenesis factor 1 | Bardzo często (80–99%) | W 1 chorobie |
| PEX10peroxisomal biogenesis factor 10 | Bardzo często (80–99%) | W 1 chorobie |
| PEX11Bperoxisomal biogenesis factor 11 beta | Bardzo często (80–99%) | W 1 chorobie |
| PEX12peroxisomal biogenesis factor 12 | Bardzo często (80–99%) | W 1 chorobie |
| PEX13peroxisomal biogenesis factor 13 | Bardzo często (80–99%) | W 1 chorobie |
| PEX14peroxisomal biogenesis factor 14 | Bardzo często (80–99%) | W 1 chorobie |
| PEX16peroxisomal biogenesis factor 16 | Bardzo często (80–99%) | W 1 chorobie |
| PEX19peroxisomal biogenesis factor 19 | Bardzo często (80–99%) | W 1 chorobie |
| PEX2peroxisomal biogenesis factor 2 | Bardzo często (80–99%) | W 1 chorobie |
| PEX26peroxisomal biogenesis factor 26 | Bardzo często (80–99%) | W 1 chorobie |
| PEX3peroxisomal biogenesis factor 3 | Bardzo często (80–99%) | W 1 chorobie |
| PEX5peroxisomal biogenesis factor 5 | Bardzo często (80–99%) | W 1 chorobie |
| PEX6peroxisomal biogenesis factor 6 | Bardzo często (80–99%) | W 1 chorobie |
| SALL1spalt like transcription factor 1 | Bardzo często (80–99%) | W 1 chorobie |
| SEMA3Esemaphorin 3E | Bardzo często (80–99%) | W 1 chorobie |
| TBCEtubulin folding cofactor E | Bardzo często (80–99%) | W 1 chorobie |
| TFAP2Atranscription factor AP-2 alpha | Bardzo często (80–99%) | W 1 chorobie |
| ZNHIT3zinc finger HIT-type containing 3 | Bardzo często (80–99%) | W 1 chorobie |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Często (30–79%) | W 1 chorobie |
| ANK1ankyrin 1 | Często (30–79%) | W 1 chorobie |
Pokaż jeszcze 136 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| ARID1BAT-rich interaction domain 1B | Często (30–79%) | W 2 chorobach |
| BCORBCL6 corepressor | Często (30–79%) | W 2 chorobach |
| CHRNA7cholinergic receptor nicotinic alpha 7 subunit | Często (30–79%) | W 1 chorobie |
| CPLX1complexin 1 | Często (30–79%) | W 1 chorobie |
| CTBP1C-terminal binding protein 1 | Często (30–79%) | W 1 chorobie |
| DLX5distal-less homeobox 5 | Często (30–79%) | W 1 chorobie |
| DONSONDNA replication fork stabilization factor DONSON | Często (30–79%) | W 1 chorobie |
| EDN1endothelin 1 | Często (30–79%) | W 1 chorobie |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Często (30–79%) | W 2 chorobach |
| EYA1EYA transcriptional coactivator and phosphatase 1 | Często (30–79%) | W 1 chorobie |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Często (30–79%) | W 1 chorobie |
| FGF10fibroblast growth factor 10 | Często (30–79%) | W 1 chorobie |
| FGFR2fibroblast growth factor receptor 2 | Często (30–79%) | W 3 chorobach |
| FGFR3fibroblast growth factor receptor 3 | Często (30–79%) | W 2 chorobach |
| FGFRL1fibroblast growth factor receptor like 1 | Często (30–79%) | W 1 chorobie |
| FIG4FIG4 phosphoinositide 5-phosphatase | Często (30–79%) | W 1 chorobie |
| FRAS1Fraser extracellular matrix complex subunit 1 | Często (30–79%) | W 1 chorobie |
| FREM2FRAS1 related extracellular matrix 2 | Często (30–79%) | W 1 chorobie |
| GATA4GATA binding protein 4 | Często (30–79%) | W 1 chorobie |
| GJA1gap junction protein alpha 1 | Często (30–79%) | W 2 chorobach |
| GNAI3G protein subunit alpha i3 | Często (30–79%) | W 1 chorobie |
| GRIP1glutamate receptor interacting protein 1 | Często (30–79%) | W 1 chorobie |
| HOXA2homeobox A2 | Często (30–79%) | W 1 chorobie |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Często (30–79%) | W 1 chorobie |
| KLF13KLF transcription factor 13 | Często (30–79%) | W 1 chorobie |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Często (30–79%) | W 1 chorobie |
| MED12mediator complex subunit 12 | Często (30–79%) | W 1 chorobie |
| MSL3MSL complex subunit 3 | Często (30–79%) | W 1 chorobie |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Często (30–79%) | W 2 chorobach |
| NIPA1NIPA magnesium transporter 1 | Często (30–79%) | W 1 chorobie |
| NIPA2NIPA magnesium transporter 2 | Często (30–79%) | W 1 chorobie |
| NSD2nuclear receptor binding SET domain protein 2 | Często (30–79%) | W 1 chorobie |
| PLCB4phospholipase C beta 4 | Często (30–79%) | W 1 chorobie |
| RNF2ring finger protein 2 | Często (30–79%) | W 1 chorobie |
| SIX1SIX homeobox 1 | Często (30–79%) | W 1 chorobie |
| SIX5SIX homeobox 5 | Często (30–79%) | W 1 chorobie |
| TBX15T-box transcription factor 15 | Często (30–79%) | W 1 chorobie |
| TRAPPC9trafficking protein particle complex subunit 9 | Często (30–79%) | W 1 chorobie |
| TUBG1tubulin gamma 1 | Często (30–79%) | W 1 chorobie |
| TWIST1twist family bHLH transcription factor 1 | Często (30–79%) | W 1 chorobie |
| VAC14VAC14 component of PIKFYVE complex | Często (30–79%) | W 1 chorobie |
| WFS1wolframin ER transmembrane glycoprotein | Często (30–79%) | W 1 chorobie |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Czasami (5–29%) | W 2 chorobach |
| BLNKB cell linker | Czasami (5–29%) | W 1 chorobie |
| BRCA1BRCA1 DNA repair associated | Czasami (5–29%) | W 1 chorobie |
| BRCA2BRCA2 DNA repair associated | Czasami (5–29%) | W 1 chorobie |
| BRIP1BRCA1 interacting DNA helicase 1 | Czasami (5–29%) | W 1 chorobie |
| CD79ACD79a molecule | Czasami (5–29%) | W 1 chorobie |
| CD79BCD79b molecule | Czasami (5–29%) | W 1 chorobie |
| CHN1chimerin 1 | Czasami (5–29%) | W 1 chorobie |
| CNOT1CCR4-NOT transcription complex subunit 1 | Czasami (5–29%) | W 1 chorobie |
| COLEC10collectin subfamily member 10 | Czasami (5–29%) | W 2 chorobach |
| COLEC11collectin subfamily member 11 | Czasami (5–29%) | W 1 chorobie |
| CTHcystathionine gamma-lyase | Czasami (5–29%) | W 1 chorobie |
| DSPdesmoplakin | Czasami (5–29%) | W 1 chorobie |
| EMC1ER membrane protein complex subunit 1 | Czasami (5–29%) | W 1 chorobie |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Czasami (5–29%) | W 1 chorobie |
| ERLIN2ER lipid raft associated 2 | Czasami (5–29%) | W 2 chorobach |
| FAAP100FA core complex associated protein 100 | Czasami (5–29%) | W 1 chorobie |
| FAM20CFAM20C golgi associated secretory pathway kinase | Czasami (5–29%) | W 1 chorobie |
| FANCAFA complementation group A | Czasami (5–29%) | W 1 chorobie |
| FANCBFA complementation group B | Czasami (5–29%) | W 1 chorobie |
| FANCCFA complementation group C | Czasami (5–29%) | W 1 chorobie |
| FANCD2FA complementation group D2 | Czasami (5–29%) | W 1 chorobie |
| FANCEFA complementation group E | Czasami (5–29%) | W 1 chorobie |
| FANCFFA complementation group F | Czasami (5–29%) | W 1 chorobie |
| FANCGFA complementation group G | Czasami (5–29%) | W 1 chorobie |
| FANCIFA complementation group I | Czasami (5–29%) | W 1 chorobie |
| FANCLFA complementation group L | Czasami (5–29%) | W 1 chorobie |
| FANCMFA complementation group M | Czasami (5–29%) | W 1 chorobie |
| FRMPD4FERM and PDZ domain containing 4 | Czasami (5–29%) | W 1 chorobie |
| IGHMimmunoglobulin heavy constant mu | Czasami (5–29%) | W 1 chorobie |
| IGLL1immunoglobulin lambda like polypeptide 1 | Czasami (5–29%) | W 1 chorobie |
| JUPjunction plakoglobin | Czasami (5–29%) | W 1 chorobie |
| LMX1BLIM homeobox transcription factor 1 beta | Czasami (5–29%) | W 1 chorobie |
| LRRC8Aleucine rich repeat containing 8 VRAC subunit A | Czasami (5–29%) | W 1 chorobie |
| MAD2L2mitotic arrest deficient 2 like 2 | Czasami (5–29%) | W 1 chorobie |
| MAFBMAF bZIP transcription factor B | Czasami (5–29%) | W 1 chorobie |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Czasami (5–29%) | W 1 chorobie |
| MAPRE2microtubule associated protein RP/EB family member 2 | Czasami (5–29%) | W 1 chorobie |
| MASP1MBL associated serine protease 1 | Czasami (5–29%) | W 1 chorobie |
| PALB2partner and localizer of BRCA2 | Czasami (5–29%) | W 1 chorobie |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Czasami (5–29%) | W 1 chorobie |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Czasami (5–29%) | W 1 chorobie |
| PMM2phosphomannomutase 2 | Czasami (5–29%) | W 1 chorobie |
| PORcytochrome p450 oxidoreductase | Czasami (5–29%) | W 2 chorobach |
| PURApurine rich element binding protein A | Czasami (5–29%) | W 1 chorobie |
| RAD51RAD51 recombinase | Czasami (5–29%) | W 1 chorobie |
| RAD51CRAD51 paralog C | Czasami (5–29%) | W 1 chorobie |
| RAI1retinoic acid induced 1 | Czasami (5–29%) | W 1 chorobie |
| RBMXRNA binding motif protein X-linked | Czasami (5–29%) | W 1 chorobie |
| RFWD3ring finger and WD repeat domain 3 | Czasami (5–29%) | W 1 chorobie |
| SALL4spalt like transcription factor 4 | Czasami (5–29%) | W 1 chorobie |
| SLC26A2solute carrier family 26 member 2 | Czasami (5–29%) | W 1 chorobie |
| SLX4SLX4 structure-specific endonuclease subunit | Czasami (5–29%) | W 1 chorobie |
| SMARCD2SWI/SNF related BAF chromatin remodeling complex subunit D2 | Czasami (5–29%) | W 1 chorobie |
| SPI1Spi-1 proto-oncogene | Czasami (5–29%) | W 1 chorobie |
| STXBP1syntaxin binding protein 1 | Czasami (5–29%) | W 1 chorobie |
| TCF3transcription factor 3 | Czasami (5–29%) | W 1 chorobie |
| TP63tumor protein p63 | Czasami (5–29%) | W 1 chorobie |
| TUBBtubulin beta class I | Czasami (5–29%) | W 1 chorobie |
| TWIST2twist family bHLH transcription factor 2 | Czasami (5–29%) | W 1 chorobie |
| UBE2Tubiquitin conjugating enzyme E2 T | Czasami (5–29%) | W 1 chorobie |
| XRCC2X-ray repair cross complementing 2 | Czasami (5–29%) | W 1 chorobie |
| EBPEBP cholestenol delta-isomerase | Rzadko (1–4%) | W 2 chorobach |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Rzadko (1–4%) | W 1 chorobie |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Rzadko (1–4%) | W 1 chorobie |
| ACTG1actin gamma 1 | Nie odnotowano | W 1 chorobie |
| AMPD2adenosine monophosphate deaminase 2 | Nie odnotowano | W 1 chorobie |
| ATRATR checkpoint kinase | Nie odnotowano | W 1 chorobie |
| B9D2B9 domain containing 2 | Nie odnotowano | W 1 chorobie |
| BICD2BICD cargo adaptor 2 | Nie odnotowano | W 1 chorobie |
| CDK10cyclin dependent kinase 10 | Nie odnotowano | W 1 chorobie |
| COL11A1collagen type XI alpha 1 chain | Nie odnotowano | W 1 chorobie |
| CUL4Bcullin 4B | Nie odnotowano | W 1 chorobie |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Nie odnotowano | W 1 chorobie |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Nie odnotowano | W 1 chorobie |
| ETFAelectron transfer flavoprotein subunit alpha | Nie odnotowano | W 1 chorobie |
| ETFBelectron transfer flavoprotein subunit beta | Nie odnotowano | W 1 chorobie |
| ETFDHelectron transfer flavoprotein dehydrogenase | Nie odnotowano | W 1 chorobie |
| INTUinturned planar cell polarity protein | Nie odnotowano | W 1 chorobie |
| KDM5Blysine demethylase 5B | Nie odnotowano | W 1 chorobie |
| MEOX1mesenchyme homeobox 1 | Nie odnotowano | W 1 chorobie |
| ORC4origin recognition complex subunit 4 | Nie odnotowano | W 1 chorobie |
| OTUD6BOTU deubiquitinase 6B | Nie odnotowano | W 1 chorobie |
| PBX1PBX homeobox 1 | Nie odnotowano | W 1 chorobie |
| PIEZO1piezo type mechanosensitive ion channel component 1 (Er blood group) | Nie odnotowano | W 1 chorobie |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Nie odnotowano | W 1 chorobie |
| PTF1Apancreas associated transcription factor 1a | Nie odnotowano | W 1 chorobie |
| RAB23RAB23, member RAS oncogene family | Nie odnotowano | W 1 chorobie |
| SKISKI proto-oncogene | Nie odnotowano | W 1 chorobie |
| SMSspermine synthase | Nie odnotowano | W 1 chorobie |
| UBE3Bubiquitin protein ligase E3B | Nie odnotowano | W 1 chorobie |
| WACWW domain containing adaptor with coiled-coil | Nie odnotowano | W 1 chorobie |
| WNT7AWnt family member 7A | Nie odnotowano | W 1 chorobie |
| ZBTB18zinc finger and BTB domain containing 18 | 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 podrzędne
- Large ears280 genów
- Prominent ear226 genów
- Cupped ear79 genów
- Simple ear32 genów
- Abnormal earlobe29 genów
- Abnormal helix morphology26 genów
- Abnormal antihelix morphology15 genów
- Thickened ears11 genów
- Lop ear9 genów
- Long ear7 genów
- Round ear7 genów
- Crumpled ear6 genów
- Abnormal tragus morphology4 genów
- Absent/small external ear4 genów
- Calcification of the auricular cartilage4 genów
- Question mark ear4 genów
- Abnormal antitragus morphology3 genów
- Short ear3 genów
- Satyr ear2 genów
- Auricular pit1 gen
- Auricular tag1 gen
- Chondritis of pinna1 gen
- Cystic lesions of the pinnae1 gen
- Deformed external ear on one side1 gen
- Extra concha fold1 gen
- Hypertrophic auricular cartilage1 gen
- Abnormal external ear cartilage morphology
- Abnormal location of ears
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 2026.10.21-777c9289.
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