Požymis
Zygomatic flattening
Klinikinis pavadinimas: Malar flattening
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Santrauka
- Taip pat vadinama
- Decreased size of malar bone, Depressed malar region, Flat cheekbone, Malar hypoplasia, Underdevelopment of malar bone
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page$trait$nameVienu tyrimu sužinokite genus, susijusius su Zygomatic flattening, ir kitą jūsų genomo dalį.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test128 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.
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- Loeys-Dietz SyndromeReads 6 of these genesSMAD2SMAD3TGFB2TGFB3TGFBR1TGFBR2About this report →
- Intellectual DisabilityReads 33 of these genesFOXP1HNRNPH1KDM6BMECP2NONOTBL1XR1About this report →
- Cutis LaxaReads 8 of these genesATP6V0A2ATP6V1AATP6V1E1SLC2A10ELNGORABAbout this report →
Show 124 more reports
- Treacher Collins SyndromeReads 4 of these genesPOLR1BPOLR1CPOLR1DTCOF1About this report →
- Syndromic CraniosynostosisReads 8 of these genesFGFR1FGFR2FGFR3RNU12ERFPORAbout this report →
- Epiphyseal and Spondyloepiphyseal DysplasiasReads 5 of these genesCOL2A1COL9A1COL9A2COL9A3SLC26A2About this report →
- Otospondylomegaepiphyseal Dysplasia (OSMED)Reads 2 of these genesCOL11A2COL2A1About this report →
- VitreoretinopathyReads 6 of these genesCOL2A1COL11A1COL9A1COL9A2COL9A3NDPAbout this report →
- Aortic AneurysmReads 4 of these genesFBN1TGFB2TGFBR1TGFBR2About this report →
- Congenital Disorders of GlycosylationReads 11 of these genesTMEM165ATP6V0A2COG4SLC35D1PIGAGORABAbout this report →
- Osteogenesis ImperfectaReads 6 of these genesATP6V0A2POLR3AGORABPYCR1COL1A1SERPINH1About this report →
- Achondrogenesis panelReads 2 of these genesCOL2A1SLC26A2About this report →
- Familial Atrial FibrillationReads 2 of these genesGJA5KCNJ2About this report →
- 22q11.2 Deletion SyndromeReads 1 of these genesTBX1About this report →
- ACAN-Related Short StatureReads 1 of these genesACANAbout this report →
- Amyotrophic Lateral Sclerosis Susceptibility 24 (NEK1)Reads 1 of these genesNEK1About this report →
- Bent Bone Dysplasia Syndrome (FGFR2)Reads 1 of these genesFGFR2About this report →
- Bloom SyndromeReads 1 of these genesBLMAbout this report →
- Caffey DiseaseReads 1 of these genesCOL1A1About this report →
- Catel-Manzke SyndromeReads 1 of these genesTGDSAbout this report →
- Cenani-Lenz Syndactyly SyndromeReads 1 of these genesLRP4About this report →
- CHARGE SyndromeReads 1 of these genesCHD7About this report →
- Desbuquois Dysplasia 1Reads 1 of these genesCANT1About this report →
- Dyssegmental Dysplasia, Silverman-Handmaker TypeReads 1 of these genesHSPG2About this report →
- Elsahy-Waters SyndromeReads 1 of these genesCDH11About this report →
- FAT4-Related Neurodevelopmental DisorderReads 1 of these genesFAT4About this report →
- Ferguson-Smith Disease (Multiple Self-Healing Squamous Epithelioma)Reads 1 of these genesTGFBR1About this report →
- FGFR3-Related Chondrodysplasias (Achondroplasia and Related Conditions)Reads 1 of these genesFGFR3About this report →
- Hajdu-Cheney SyndromeReads 1 of these genesNOTCH2About this report →
- KCNH1-Related DisorderReads 1 of these genesKCNH1About this report →
- Keutel SyndromeReads 1 of these genesMGPAbout this report →
- Mandibulofacial Dysostosis with MicrocephalyReads 1 of these genesEFTUD2About this report →
- MEND SyndromeReads 1 of these genesEBPAbout this report →
- Miller Syndrome (Postaxial Acrofacial Dysostosis)Reads 1 of these genesDHODHAbout this report →
- OpsismodysplasiaReads 1 of these genesINPPL1About this report →
- PIK3R1-Related DisordersReads 1 of these genesPIK3R1About this report →
- POLR1C-Related DisorderReads 1 of these genesPOLR1CAbout this report →
- POLR3A-Related DisorderReads 1 of these genesPOLR3AAbout this report →
- Primary Failure of Tooth EruptionReads 1 of these genesPTH1RAbout this report →
- Primrose SyndromeReads 1 of these genesZBTB20About this report →
- Raine SyndromeReads 1 of these genesFAM20CAbout this report →
- Rett Syndrome and MECP2-Related DisordersReads 1 of these genesMECP2About this report →
- RNU4ATAC Spectrum DisorderReads 1 of these genesRNU4ATACAbout this report →
- Roberts SyndromeReads 1 of these genesESCO2About this report →
- Saul-Wilson SyndromeReads 1 of these genesCOG4About this report →
- Schwartz-Jampel Syndrome Type 1Reads 1 of these genesHSPG2About this report →
- SF3B4-Related Acrofacial Dysostosis (Nager Syndrome)Reads 1 of these genesSF3B4About this report →
- Spondylo-Meta-Epiphyseal Dysplasia, Short Limb-Abnormal Calcification TypeReads 1 of these genesDDR2About this report →
- Stüve-Wiedemann SyndromeReads 1 of these genesLIFRAbout this report →
- Turnpenny-Fry SyndromeReads 1 of these genesPCGF2About this report →
- GPI Anchor Biosynthesis DefectsReads 4 of these genesPIGAPIGTPIGBPIGVAbout this report →
- Hereditary Methaemoglobinaemia and Unstable HaemoglobinsReads 2 of these genesHBA1HBA2About this report →
- ThalassaemiaReads 2 of these genesHBA1HBA2About this report →
- Ehlers-Danlos SyndromeReads 4 of these genesPLOD3COL5A1B3GALT6COL1A1About this report →
- Inherited Congenital Heart DefectsReads 3 of these genesFLNATFAP2BELNAbout this report →
- Zellweger Spectrum & Peroxisome Biogenesis DisordersReads 3 of these genesPEX1PEX12PEX7About this report →
- Non-Acquired Combined Pituitary Hormone DeficiencyReads 4 of these genesGLI2POU1F1SHHSIX3About this report →
- Colorectal Cancer & PolyposisReads 2 of these genesPOLEAPCAbout this report →
- PolycythemiaReads 2 of these genesHBA1HBA2About this report →
- Activated PI3K-Delta Syndrome (APDS)Reads 1 of these genesPIK3R1About this report →
- Alagille SyndromeReads 1 of these genesNOTCH2About this report →
- Cerebral Arteriopathy with Subcortical Infarcts and LeukoencephalopathyReads 1 of these genesNOTCH3About this report →
- Cleidocranial DysplasiaReads 1 of these genesRUNX2About this report →
- FLNB-Related Skeletal Dysplasia (Larsen Spectrum)Reads 1 of these genesFLNBAbout this report →
- Juvenile Polyposis SyndromeReads 1 of these genesSMAD4About this report →
- Other Inherited LeukodystrophiesReads 6 of these genesPOLR1CPOLR3APEX1PEX12PEX7PYCR2About this report →
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)Reads 3 of these genesNGFNTRK1AIFM1About this report →
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesReads 3 of these genesPOLR1CPOLR3APYCR2About this report →
- Cerebral Creatine Deficiency SyndromesReads 1 of these genesSLC6A8About this report →
- Familial Periodic ParalysisReads 1 of these genesKCNJ2About this report →
- Immuno-Osseous DysplasiasReads 1 of these genesRNU4ATACAbout this report →
- TyrosinemiaReads 1 of these genesTATAbout this report →
- Microphthalmia, Anophthalmia & ColobomaReads 3 of these genesRAB3GAP1RAB3GAP2SHHAbout this report →
- Hypogonadotropic HypogonadismReads 4 of these genesFGFR1RAB3GAP2CHD7POU1F1About this report →
- Rare Hereditary Peripheral NeuropathiesReads 8 of these genesNGFNTRK1AIFM1LMNALRPPRCPEX1About this report →
- Primary Lymphoedema & Lymphatic MalformationsReads 2 of these genesCCBE1FAT4About this report →
- Hereditary Hemorrhagic TelangiectasiaReads 1 of these genesSMAD4About this report →
- NeurofibromatosisReads 1 of these genesNF1About this report →
- Pseudohypoparathyroidism & GNAS-Inactivation DisordersReads 1 of these genesPDE4DAbout this report →
- Short Qt SyndromeReads 1 of these genesKCNJ2About this report →
- Ectodermal DysplasiasReads 2 of these genesTP63NECTIN1About this report →
- Inherited Neurodegenerative DisordersReads 9 of these genesFLVCR1POLR1CPOLR3AZNHIT3PEX1PEX12About this report →
- Mosaic Variegated Aneuploidy SyndromeReads 1 of these genesBUB1BAbout this report →
- Periventricular Nodular HeterotopiaReads 1 of these genesFLNAAbout this report →
- Sclerosing Bone Dysplasias (High Bone Mass)Reads 1 of these genesSOSTAbout this report →
- Epilepsy (Full Panel)Reads 6 of these genesMECP2ATP6V1AFLNAPIGAGRIA3PIGBAbout this report →
- Noonan SyndromeReads 2 of these genesERFMAPK1About this report →
- Lissencephaly Spectrum DisordersReads 2 of these genesRAB3GAP1RAB3GAP2About this report →
- Syndromic Complex Neurodevelopmental DisorderReads 2 of these genesTFE3ZFXAbout this report →
- Hereditary Orofacial CleftingReads 1 of these genesTBX22About this report →
- Hereditary Visceral Myopathy, CIPO & MMIHSReads 1 of these genesFLNAAbout this report →
- Alpha-Mannosidosis and Other GlycoproteinosesReads 1 of these genesMAN2B1About this report →
- Congenital Adrenal HyperplasiaReads 1 of these genesPORAbout this report →
- Waardenburg SyndromeReads 1 of these genesPAX3About this report →
- GlaucomaReads 1 of these genesFOXC1About this report →
- Progressive Cardiac Conduction Disease & Sick Sinus SyndromeReads 1 of these genesLMNAAbout this report →
- Inherited ThrombocytopeniasReads 2 of these genesGP1BBRBM8AAbout this report →
- Limb-Girdle Muscular DystrophyReads 2 of these genesLMNAPOMGNT1About this report →
- Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome & AniridiaReads 1 of these genesFOXC1About this report →
- Inherited Platelet Function DisordersReads 1 of these genesGP1BBAbout this report →
- Joubert Syndrome And Related DisordersReads 2 of these genesKIF7TMEM237About this report →
- Agammaglobulinaemia (XLA and Autosomal Forms)Reads 1 of these genesPIK3R1About this report →
- Long QT SyndromeReads 1 of these genesKCNJ2About this report →
- Hearing Loss and DeafnessReads 3 of these genesCOL11A2COL11A1AIFM1About this report →
- Coffin-Siris SyndromeReads 1 of these genesARID1BAbout this report →
- LipodystrophyReads 1 of these genesLMNAAbout this report →
- Diamond-Blackfan AnemiaReads 1 of these genesRPS26About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 2 of these genesFLVCR1TMEM237About this report →
- Glycogen Storage DiseaseReads 1 of these genesAGLAbout this report →
- Hypertrophic CardiomyopathyReads 2 of these genesERFMAPK1About this report →
- Leigh SyndromeReads 2 of these genesAIFM1LRPPRCAbout this report →
- 46,XY Differences of Sex Development and Gonadal DysgenesisReads 1 of these genesATRXAbout this report →
- Charcot-Marie-Tooth DiseaseReads 2 of these genesAIFM1LMNAAbout this report →
- Retinitis PigmentosaReads 2 of these genesFLVCR1POMGNT1About this report →
- Bardet-Biedl and Alström SyndromesReads 1 of these genesBBS7About this report →
- Dyskeratosis CongenitaReads 1 of these genesDNMT3BAbout this report →
- Hereditary Congenital & Juvenile CataractReads 1 of these genesMAFAbout this report →
- Inherited IchthyosesReads 1 of these genesNSDHLAbout this report →
- Congenital Myasthenic SyndromeReads 1 of these genesLRP4About this report →
- Congenital Muscular DystrophiesReads 1 of these genesPOMGNT1About this report →
- Diabetes MellitusReads 1 of these genesZBTB20About this report →
- Primary Mitochondrial DiseaseReads 2 of these genesAIFM1LRPPRCAbout this report →
- Hereditary Palmoplantar Keratodermas and Pachyonychia CongenitaReads 1 of these genesTATAbout this report →
- Dilated CardiomyopathyReads 1 of these genesLMNAAbout this report →
- Female InfertilityReads 1 of these genesTP63About this report →
- Other Inborn Errors of ImmunityReads 2 of these genesTBX1PIK3R1About this report →
- Lysosomal Storage DiseaseReads 1 of these genesMAN2B1About this report →
Vienu tyrimu sužinokite genus, susijusius su Zygomatic flattening, ir kitą jūsų genomo dalį.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test217 genų susiję su Zygomatic flattening
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Zygomatic flattening. 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 |
|---|---|---|
| ACANaggrecan | Visada | 1 ligoje |
| ASPHaspartate beta-hydroxylase | Visada | 1 ligoje |
| BBS7Bardet-Biedl syndrome 7 | Visada | 1 ligoje |
| CANT1calcium activated nucleotidase 1 | Visada | 1 ligoje |
| COL11A2collagen type XI alpha 2 chain | Visada | 4 ligose |
| COL2A1collagen type II alpha 1 chain | Visada | 6 ligose |
| FGFR1fibroblast growth factor receptor 1 | Visada | 2 ligose |
| FLVCR1FLVCR choline and heme transporter 1 | Visada | 1 ligoje |
| FOXP1forkhead box P1 | Visada | 1 ligoje |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Visada | 1 ligoje |
| HS6ST2heparan sulfate 6-O-sulfotransferase 2 | Visada | 1 ligoje |
| KDM6Blysine demethylase 6B | Visada | 1 ligoje |
| KIF7kinesin family member 7 | Visada | 1 ligoje |
| MECP2methyl-CpG binding protein 2 | Visada | 1 ligoje |
| NONOnon-POU domain containing octamer binding | Visada | 2 ligose |
| NOTCH2notch receptor 2 | Visada | 1 ligoje |
| NOTCH3notch receptor 3 | Visada | 2 ligose |
| OBSL1obscurin like cytoskeletal adaptor 1 | Visada | 1 ligoje |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Visada | 1 ligoje |
| PLOD3procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | Visada | 1 ligoje |
| POLR1BRNA polymerase I subunit B | Visada | 2 ligose |
| POLR1CRNA polymerase I and III subunit C | Visada | 2 ligose |
| PSMC3proteasome 26S subunit, ATPase 3 | Visada | 1 ligoje |
| RDH11retinol dehydrogenase 11 | Visada | 2 ligose |
| TBL1XR1TBL1X/Y related 1 | Visada | 2 ligose |
| TMEM165transmembrane protein 165 | Visada | 1 ligoje |
| ACSL4acyl-CoA synthetase long chain family member 4 | Labai dažnai (80–99%) | 1 ligoje |
| AMMECR1AMMECR nuclear protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Labai dažnai (80–99%) | 2 ligose |
| ATP6V1AATPase H+ transporting V1 subunit A | Labai dažnai (80–99%) | 1 ligoje |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Labai dažnai (80–99%) | 2 ligose |
| BGNbiglycan | Labai dažnai (80–99%) | 1 ligoje |
| COG4component of oligomeric golgi complex 4 | Labai dažnai (80–99%) | 1 ligoje |
| COL11A1collagen type XI alpha 1 chain | Labai dažnai (80–99%) | 4 ligose |
| DHODHdihydroorotate dehydrogenase (quinone) | Labai dažnai (80–99%) | 2 ligose |
| EFTUD2elongation factor Tu GTP binding domain containing 2 | Labai dažnai (80–99%) | 2 ligose |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Labai dažnai (80–99%) | 2 ligose |
| FGFR2fibroblast growth factor receptor 2 | Labai dažnai (80–99%) | 8 ligose |
| FLNAfilamin A | Labai dažnai (80–99%) | 4 ligose |
| FLNBfilamin B | Labai dažnai (80–99%) | 4 ligose |
Rodyti dar 177 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| HDAC4histone deacetylase 4 | Labai dažnai (80–99%) | 1 ligoje |
| INPPL1inositol polyphosphate phosphatase like 1 | Labai dažnai (80–99%) | 1 ligoje |
| KCNE5potassium voltage-gated channel subfamily E regulatory subunit 5 | Labai dažnai (80–99%) | 1 ligoje |
| LARP7La ribonucleoprotein 7, transcriptional regulator | Labai dažnai (80–99%) | 2 ligose |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Labai dažnai (80–99%) | 2 ligose |
| PDE4Dphosphodiesterase 4D | Labai dažnai (80–99%) | 2 ligose |
| POLR1DRNA polymerase I and III subunit D | Labai dažnai (80–99%) | 2 ligose |
| POLR3ARNA polymerase III subunit A | Labai dažnai (80–99%) | 2 ligose |
| PQBP1polyglutamine binding protein 1 | Labai dažnai (80–99%) | 2 ligose |
| PTH1Rparathyroid hormone 1 receptor | Labai dažnai (80–99%) | 2 ligose |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Labai dažnai (80–99%) | 1 ligoje |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Labai dažnai (80–99%) | 1 ligoje |
| RAI1retinoic acid induced 1 | Labai dažnai (80–99%) | 1 ligoje |
| RSPRY1ring finger and SPRY domain containing 1 | Labai dažnai (80–99%) | 2 ligose |
| SCARF2scavenger receptor class F member 2 | Labai dažnai (80–99%) | 2 ligose |
| SF3B4splicing factor 3b subunit 4 | Labai dažnai (80–99%) | 2 ligose |
| SLC35D1solute carrier family 35 member D1 | Labai dažnai (80–99%) | 2 ligose |
| TBX22T-box transcription factor 22 | Labai dažnai (80–99%) | 1 ligoje |
| TCOF1treacle ribosome biogenesis factor 1 | Labai dažnai (80–99%) | 2 ligose |
| TFAP2Btranscription factor AP-2 beta | Labai dažnai (80–99%) | 1 ligoje |
| TGDSTDP-glucose 4,6-dehydratase | Labai dažnai (80–99%) | 1 ligoje |
| YY1YY1 transcription factor | Labai dažnai (80–99%) | 2 ligose |
| ZNHIT3zinc finger HIT-type containing 3 | Labai dažnai (80–99%) | 1 ligoje |
| ADAMTSL4ADAMTS like 4 | Dažnai (30–79%) | 1 ligoje |
| ARID1BAT-rich interaction domain 1B | Dažnai (30–79%) | 1 ligoje |
| ARVCFARVCF delta catenin family member | Dažnai (30–79%) | 1 ligoje |
| BLMBLM RecQ like helicase | Dažnai (30–79%) | 2 ligose |
| BMP2bone morphogenetic protein 2 | Dažnai (30–79%) | 1 ligoje |
| CDH11cadherin 11 | Dažnai (30–79%) | 1 ligoje |
| CHD6chromodomain helicase DNA binding protein 6 | Dažnai (30–79%) | 1 ligoje |
| COL9A1collagen type IX alpha 1 chain | Dažnai (30–79%) | 1 ligoje |
| COL9A2collagen type IX alpha 2 chain | Dažnai (30–79%) | 1 ligoje |
| COL9A3collagen type IX alpha 3 chain | Dažnai (30–79%) | 1 ligoje |
| COMTcatechol-O-methyltransferase | Dažnai (30–79%) | 1 ligoje |
| DLG3discs large MAGUK scaffold protein 3 | Dažnai (30–79%) | 1 ligoje |
| DVL1dishevelled segment polarity protein 1 | Dažnai (30–79%) | 1 ligoje |
| EHMT1euchromatic histone lysine methyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| FBN1fibrillin 1 | Dažnai (30–79%) | 2 ligose |
| FGFR3fibroblast growth factor receptor 3 | Dažnai (30–79%) | 5 ligose |
| FOXC1forkhead box C1 | Dažnai (30–79%) | 1 ligoje |
| FZD2frizzled class receptor 2 | Dažnai (30–79%) | 1 ligoje |
| GLI2GLI family zinc finger 2 | Dažnai (30–79%) | 1 ligoje |
| GP1BBglycoprotein Ib platelet subunit beta | Dažnai (30–79%) | 1 ligoje |
| GSCgoosecoid homeobox | Dažnai (30–79%) | 1 ligoje |
| HBA1hemoglobin subunit alpha 1 | Dažnai (30–79%) | 1 ligoje |
| HBA2hemoglobin subunit alpha 2 | Dažnai (30–79%) | 1 ligoje |
| HIRAhistone cell cycle regulator | Dažnai (30–79%) | 1 ligoje |
| IPO8importin 8 | Dažnai (30–79%) | 1 ligoje |
| JMJD1Cjumonji domain containing 1C | Dažnai (30–79%) | 1 ligoje |
| LOXL3lysyl oxidase like 3 | Dažnai (30–79%) | 1 ligoje |
| LRP4LDL receptor related protein 4 | Dažnai (30–79%) | 2 ligose |
| MBD5methyl-CpG binding domain protein 5 | Dažnai (30–79%) | 1 ligoje |
| MED12mediator complex subunit 12 | Dažnai (30–79%) | 1 ligoje |
| NEK1NIMA related kinase 1 | Dažnai (30–79%) | 1 ligoje |
| NGFnerve growth factor | Dažnai (30–79%) | 1 ligoje |
| NTRK1neurotrophic receptor tyrosine kinase 1 | Dažnai (30–79%) | 1 ligoje |
| PCGF2polycomb group ring finger 2 | Dažnai (30–79%) | 1 ligoje |
| PDZD8PDZ domain containing 8 | Dažnai (30–79%) | 1 ligoje |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Dažnai (30–79%) | 1 ligoje |
| POLEDNA polymerase epsilon, catalytic subunit | Dažnai (30–79%) | 1 ligoje |
| PRMT7protein arginine methyltransferase 7 | Dažnai (30–79%) | 1 ligoje |
| RHOAras homolog family member A | Dažnai (30–79%) | 1 ligoje |
| RNU12RNA, U12 small nuclear | Dažnai (30–79%) | 2 ligose |
| RNU4ATACRNA, U4atac small nuclear | Dažnai (30–79%) | 1 ligoje |
| RPL17ribosomal protein L17 | Dažnai (30–79%) | 1 ligoje |
| RPS26ribosomal protein S26 | Dažnai (30–79%) | 1 ligoje |
| RREB1ras responsive element binding protein 1 | Dažnai (30–79%) | 1 ligoje |
| RUNX2RUNX family transcription factor 2 | Dažnai (30–79%) | 1 ligoje |
| SEC24CSEC24 homolog C, COPII component | Dažnai (30–79%) | 1 ligoje |
| SETD2SET domain containing 2, histone lysine methyltransferase | Dažnai (30–79%) | 2 ligose |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Dažnai (30–79%) | 1 ligoje |
| SLC2A10solute carrier family 2 member 10 | Dažnai (30–79%) | 2 ligose |
| SLC6A8solute carrier family 6 member 8 | Dažnai (30–79%) | 2 ligose |
| SMAD2SMAD family member 2 | Dažnai (30–79%) | 1 ligoje |
| SMAD3SMAD family member 3 | Dažnai (30–79%) | 3 ligose |
| STAG2STAG2 cohesin complex component | Dažnai (30–79%) | 1 ligoje |
| TBX1T-box transcription factor 1 | Dažnai (30–79%) | 1 ligoje |
| TFE3transcription factor binding to IGHM enhancer 3 | Dažnai (30–79%) | 1 ligoje |
| TGFB2transforming growth factor beta 2 | Dažnai (30–79%) | 1 ligoje |
| TGFB3transforming growth factor beta 3 | Dažnai (30–79%) | 1 ligoje |
| TGFBR1transforming growth factor beta receptor 1 | Dažnai (30–79%) | 2 ligose |
| TGFBR2transforming growth factor beta receptor 2 | Dažnai (30–79%) | 2 ligose |
| TRIM33tripartite motif containing 33 | Dažnai (30–79%) | 1 ligoje |
| UBE2Aubiquitin conjugating enzyme E2 A | Dažnai (30–79%) | 1 ligoje |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Dažnai (30–79%) | 1 ligoje |
| WNT5AWnt family member 5A | Dažnai (30–79%) | 1 ligoje |
| APCAPC regulator of Wnt signaling pathway | Kartais (5–29%) | 1 ligoje |
| ASXL3ASXL transcriptional regulator 3 | Kartais (5–29%) | 1 ligoje |
| BCRBCR activator of RhoGEF and GTPase | Kartais (5–29%) | 1 ligoje |
| CDK10cyclin dependent kinase 10 | Kartais (5–29%) | 1 ligoje |
| CNOT3CCR4-NOT transcription complex subunit 3 | Kartais (5–29%) | 1 ligoje |
| COL5A1collagen type V alpha 1 chain | Kartais (5–29%) | 1 ligoje |
| CRELD1CRELD disulfide isomerase 1 | Kartais (5–29%) | 1 ligoje |
| CRKLCRK like proto-oncogene, adaptor protein | Kartais (5–29%) | 1 ligoje |
| ELNelastin | Kartais (5–29%) | 1 ligoje |
| ERFETS2 repressor factor | Kartais (5–29%) | 1 ligoje |
| FAM50Afamily with sequence similarity 50 member A | Kartais (5–29%) | 1 ligoje |
| GORABgolgin, RAB6 interacting | Kartais (5–29%) | 2 ligose |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Kartais (5–29%) | 1 ligoje |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Kartais (5–29%) | 2 ligose |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Kartais (5–29%) | 1 ligoje |
| LTBP4latent transforming growth factor beta binding protein 4 | Kartais (5–29%) | 1 ligoje |
| MAN1B1mannosidase alpha class 1B member 1 | Kartais (5–29%) | 2 ligose |
| MAPK1mitogen-activated protein kinase 1 | Kartais (5–29%) | 1 ligoje |
| MLXIPLMLX interacting protein like | Kartais (5–29%) | 1 ligoje |
| NDPnorrin cystine knot growth factor NDP | Kartais (5–29%) | 1 ligoje |
| NF1neurofibromin 1 | Kartais (5–29%) | 2 ligose |
| NPR3natriuretic peptide receptor 3 | Kartais (5–29%) | 1 ligoje |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Kartais (5–29%) | 1 ligoje |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Kartais (5–29%) | 1 ligoje |
| POGZpogo transposable element derived with ZNF domain | Kartais (5–29%) | 2 ligose |
| PYCR1pyrroline-5-carboxylate reductase 1 | Kartais (5–29%) | 2 ligose |
| RBM8ARNA binding motif protein 8A | Kartais (5–29%) | 1 ligoje |
| RFX7regulatory factor X7 | Kartais (5–29%) | 1 ligoje |
| TATtyrosine aminotransferase | Kartais (5–29%) | 1 ligoje |
| TBX4T-box transcription factor 4 | Kartais (5–29%) | 1 ligoje |
| ZFXzinc finger protein X-linked | Kartais (5–29%) | 1 ligoje |
| GJA5gap junction protein alpha 5 | Retai (1–4 %) | 1 ligoje |
| GJA8gap junction protein alpha 8 | Retai (1–4 %) | 1 ligoje |
| TP63tumor protein p63 | Retai (1–4 %) | 2 ligose |
| AGLamylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase | Neužfiksuota | 1 ligoje |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Neužfiksuota | 1 ligoje |
| ATRXATRX chromatin remodeler | Neužfiksuota | 2 ligose |
| B3GALT6beta-1,3-galactosyltransferase 6 | Neužfiksuota | 1 ligoje |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Neužfiksuota | 1 ligoje |
| CCBE1collagen and calcium binding EGF domains 1 | Neužfiksuota | 1 ligoje |
| CHD7chromodomain helicase DNA binding protein 7 | Neužfiksuota | 1 ligoje |
| COL1A1collagen type I alpha 1 chain | Neužfiksuota | 1 ligoje |
| CUL7cullin 7 | Neužfiksuota | 1 ligoje |
| DCHS1dachsous cadherin-related 1 | Neužfiksuota | 1 ligoje |
| DDR2discoidin domain receptor tyrosine kinase 2 | Neužfiksuota | 1 ligoje |
| DNMT3BDNA methyltransferase 3 beta | Neužfiksuota | 1 ligoje |
| EBPEBP cholestenol delta-isomerase | Neužfiksuota | 1 ligoje |
| FAM20CFAM20C golgi associated secretory pathway kinase | Neužfiksuota | 1 ligoje |
| FAT4FAT atypical cadherin 4 | Neužfiksuota | 1 ligoje |
| GPC6glypican 6 | Neužfiksuota | 1 ligoje |
| HSPG2heparan sulfate proteoglycan 2 | Neužfiksuota | 2 ligose |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Neužfiksuota | 1 ligoje |
| KIF22kinesin family member 22 | Neužfiksuota | 1 ligoje |
| LIFRLIF receptor subunit alpha | Neužfiksuota | 1 ligoje |
| LMNAlamin A/C | Neužfiksuota | 1 ligoje |
| LRP2LDL receptor related protein 2 | Neužfiksuota | 1 ligoje |
| LRPPRCleucine rich pentatricopeptide repeat containing | Neužfiksuota | 1 ligoje |
| MAFMAF bZIP transcription factor | Neužfiksuota | 1 ligoje |
| MAN2B1mannosidase alpha class 2B member 1 | Neužfiksuota | 1 ligoje |
| MGPmatrix Gla protein | Neužfiksuota | 1 ligoje |
| MYH3myosin heavy chain 3 | Neužfiksuota | 1 ligoje |
| NECTIN1nectin cell adhesion molecule 1 | Neužfiksuota | 1 ligoje |
| PAX3paired box 3 | Neužfiksuota | 1 ligoje |
| PEX1peroxisomal biogenesis factor 1 | Neužfiksuota | 1 ligoje |
| PEX12peroxisomal biogenesis factor 12 | Neužfiksuota | 1 ligoje |
| PEX7peroxisomal biogenesis factor 7 | Neužfiksuota | 1 ligoje |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Neužfiksuota | 1 ligoje |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Neužfiksuota | 1 ligoje |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Neužfiksuota | 1 ligoje |
| PORcytochrome p450 oxidoreductase | Neužfiksuota | 2 ligose |
| POU1F1POU class 1 homeobox 1 | Neužfiksuota | 1 ligoje |
| PYCR2pyrroline-5-carboxylate reductase 2 | Neužfiksuota | 1 ligoje |
| RAB23RAB23, member RAS oncogene family | Neužfiksuota | 1 ligoje |
| RLIMring finger protein, LIM domain interacting | Neužfiksuota | 1 ligoje |
| ROR2ROR family WNT receptor 2 | Neužfiksuota | 1 ligoje |
| SATB2SATB homeobox 2 | Neužfiksuota | 1 ligoje |
| SEC23ASEC23 homolog A, COPII component | Neužfiksuota | 1 ligoje |
| SERPINH1serpin family H member 1 | Neužfiksuota | 1 ligoje |
| SETBP1SET binding protein 1 | Neužfiksuota | 1 ligoje |
| SF3B2splicing factor 3b subunit 2 | Neužfiksuota | 1 ligoje |
| SHHsonic hedgehog signaling molecule | Neužfiksuota | 1 ligoje |
| SIX3SIX homeobox 3 | Neužfiksuota | 1 ligoje |
| SLC26A2solute carrier family 26 member 2 | Neužfiksuota | 2 ligose |
| SMAD4SMAD family member 4 | Neužfiksuota | 1 ligoje |
| SNRPBsmall nuclear ribonucleoprotein polypeptides B and B1 | Neužfiksuota | 1 ligoje |
| SOSTsclerostin | Neužfiksuota | 1 ligoje |
| TFAP2Atranscription factor AP-2 alpha | Neužfiksuota | 1 ligoje |
| TMEM237transmembrane protein 237 | Neužfiksuota | 1 ligoje |
| TONSLtonsoku like, DNA repair protein | Neužfiksuota | 1 ligoje |
| TWIST1twist family bHLH transcription factor 1 | Neužfiksuota | 2 ligose |
| ZBTB20zinc finger and BTB domain containing 20 | 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
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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