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Cecha
Zygomatic flattening
Nazwa kliniczna: Malar flattening
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Podsumowanie
- Znana także jako
- Decreased size of malar bone, Depressed malar region, Flat cheekbone, Malar hypoplasia, Underdevelopment of malar bone
AtlasKomu pomagamyNasza naukaProduktyWyniki
Zaloguj sięZapytajZsekwencjonuj swój genom↗
Ta strona jako dane
Aby odczytać ją jako JSON, dodaj .json na końcu adresu strony lub zażądaj application/json.
library(jsonlite)
url <- "https://dantelabs.com/traits/malar-flattening.json"
page <- fromJSON(url)
page$trait$nameZygomatic flatteningHP:0000272
AtlasKomu pomagamyNasza naukaProduktyWyniki
Zaloguj sięZapytajZsekwencjonuj swój genom↗
Odczytaj geny powiązane z Zygomatic flattening oraz resztę swojego genomu za pomocą jednego badania.
Od 449 $Bezpłatna wysyłka · Wyniki w ciągu 6–8 tygodni
Zamawiam 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.
- Marfan Like SyndromesReads 8 of these genesBGNFBN1SMAD2SMAD3TGFB2TGFB3About this report →
- 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 →
Odczytaj geny powiązane z Zygomatic flattening oraz resztę swojego genomu za pomocą jednego badania.
Od 449 $Bezpłatna wysyłka · Wyniki w ciągu 6–8 tygodni
Zamawiam Genome Test217 genów powiązanych z Zygomatic flattening
Zmiany w tych genach powodują rzadkie choroby, w których występuje Zygomatic flattening. 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 |
|---|---|---|
| ACANaggrecan | Zawsze | W 1 chorobie |
| ASPHaspartate beta-hydroxylase | Zawsze | W 1 chorobie |
| BBS7Bardet-Biedl syndrome 7 | Zawsze | W 1 chorobie |
| CANT1calcium activated nucleotidase 1 | Zawsze | W 1 chorobie |
| COL11A2collagen type XI alpha 2 chain | Zawsze | W 4 chorobach |
| COL2A1collagen type II alpha 1 chain | Zawsze | W 6 chorobach |
| FGFR1fibroblast growth factor receptor 1 | Zawsze | W 2 chorobach |
| FLVCR1FLVCR choline and heme transporter 1 | Zawsze | W 1 chorobie |
| FOXP1forkhead box P1 | Zawsze | W 1 chorobie |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Zawsze | W 1 chorobie |
| HS6ST2heparan sulfate 6-O-sulfotransferase 2 | Zawsze | W 1 chorobie |
| KDM6Blysine demethylase 6B | Zawsze | W 1 chorobie |
| KIF7kinesin family member 7 | Zawsze | W 1 chorobie |
| MECP2methyl-CpG binding protein 2 | Zawsze | W 1 chorobie |
| NONOnon-POU domain containing octamer binding | Zawsze | W 2 chorobach |
| NOTCH2notch receptor 2 | Zawsze | W 1 chorobie |
| NOTCH3notch receptor 3 | Zawsze | W 2 chorobach |
| OBSL1obscurin like cytoskeletal adaptor 1 | Zawsze | W 1 chorobie |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Zawsze | W 1 chorobie |
| PLOD3procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | Zawsze | W 1 chorobie |
| POLR1BRNA polymerase I subunit B | Zawsze | W 2 chorobach |
| POLR1CRNA polymerase I and III subunit C | Zawsze | W 2 chorobach |
| PSMC3proteasome 26S subunit, ATPase 3 | Zawsze | W 1 chorobie |
| RDH11retinol dehydrogenase 11 | Zawsze | W 2 chorobach |
| TBL1XR1TBL1X/Y related 1 | Zawsze | W 2 chorobach |
| TMEM165transmembrane protein 165 | Zawsze | W 1 chorobie |
| ACSL4acyl-CoA synthetase long chain family member 4 | Bardzo często (80–99%) | W 1 chorobie |
| AMMECR1AMMECR nuclear protein 1 | Bardzo często (80–99%) | W 1 chorobie |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Bardzo często (80–99%) | W 2 chorobach |
| ATP6V1AATPase H+ transporting V1 subunit A | Bardzo często (80–99%) | W 1 chorobie |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Bardzo często (80–99%) | W 2 chorobach |
| BGNbiglycan | Bardzo często (80–99%) | W 1 chorobie |
| COG4component of oligomeric golgi complex 4 | Bardzo często (80–99%) | W 1 chorobie |
| COL11A1collagen type XI alpha 1 chain | Bardzo często (80–99%) | W 4 chorobach |
| DHODHdihydroorotate dehydrogenase (quinone) | Bardzo często (80–99%) | W 2 chorobach |
| EFTUD2elongation factor Tu GTP binding domain containing 2 | Bardzo często (80–99%) | W 2 chorobach |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Bardzo często (80–99%) | W 2 chorobach |
| FGFR2fibroblast growth factor receptor 2 | Bardzo często (80–99%) | W 8 chorobach |
| FLNAfilamin A | Bardzo często (80–99%) | W 4 chorobach |
| FLNBfilamin B | Bardzo często (80–99%) | W 4 chorobach |
Pokaż jeszcze 177 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| HDAC4histone deacetylase 4 | Bardzo często (80–99%) | W 1 chorobie |
| INPPL1inositol polyphosphate phosphatase like 1 | Bardzo często (80–99%) | W 1 chorobie |
| KCNE5potassium voltage-gated channel subfamily E regulatory subunit 5 | Bardzo często (80–99%) | W 1 chorobie |
| LARP7La ribonucleoprotein 7, transcriptional regulator | Bardzo często (80–99%) | W 2 chorobach |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Bardzo często (80–99%) | W 2 chorobach |
| PDE4Dphosphodiesterase 4D | Bardzo często (80–99%) | W 2 chorobach |
| POLR1DRNA polymerase I and III subunit D | Bardzo często (80–99%) | W 2 chorobach |
| POLR3ARNA polymerase III subunit A | Bardzo często (80–99%) | W 2 chorobach |
| PQBP1polyglutamine binding protein 1 | Bardzo często (80–99%) | W 2 chorobach |
| PTH1Rparathyroid hormone 1 receptor | Bardzo często (80–99%) | W 2 chorobach |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Bardzo często (80–99%) | W 1 chorobie |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Bardzo często (80–99%) | W 1 chorobie |
| RAI1retinoic acid induced 1 | Bardzo często (80–99%) | W 1 chorobie |
| RSPRY1ring finger and SPRY domain containing 1 | Bardzo często (80–99%) | W 2 chorobach |
| SCARF2scavenger receptor class F member 2 | Bardzo często (80–99%) | W 2 chorobach |
| SF3B4splicing factor 3b subunit 4 | Bardzo często (80–99%) | W 2 chorobach |
| SLC35D1solute carrier family 35 member D1 | Bardzo często (80–99%) | W 2 chorobach |
| TBX22T-box transcription factor 22 | Bardzo często (80–99%) | W 1 chorobie |
| TCOF1treacle ribosome biogenesis factor 1 | Bardzo często (80–99%) | W 2 chorobach |
| TFAP2Btranscription factor AP-2 beta | Bardzo często (80–99%) | W 1 chorobie |
| TGDSTDP-glucose 4,6-dehydratase | Bardzo często (80–99%) | W 1 chorobie |
| YY1YY1 transcription factor | Bardzo często (80–99%) | W 2 chorobach |
| ZNHIT3zinc finger HIT-type containing 3 | Bardzo często (80–99%) | W 1 chorobie |
| ADAMTSL4ADAMTS like 4 | Często (30–79%) | W 1 chorobie |
| ARID1BAT-rich interaction domain 1B | Często (30–79%) | W 1 chorobie |
| ARVCFARVCF delta catenin family member | Często (30–79%) | W 1 chorobie |
| BLMBLM RecQ like helicase | Często (30–79%) | W 2 chorobach |
| BMP2bone morphogenetic protein 2 | Często (30–79%) | W 1 chorobie |
| CDH11cadherin 11 | Często (30–79%) | W 1 chorobie |
| CHD6chromodomain helicase DNA binding protein 6 | Często (30–79%) | W 1 chorobie |
| COL9A1collagen type IX alpha 1 chain | Często (30–79%) | W 1 chorobie |
| COL9A2collagen type IX alpha 2 chain | Często (30–79%) | W 1 chorobie |
| COL9A3collagen type IX alpha 3 chain | Często (30–79%) | W 1 chorobie |
| COMTcatechol-O-methyltransferase | Często (30–79%) | W 1 chorobie |
| DLG3discs large MAGUK scaffold protein 3 | Często (30–79%) | W 1 chorobie |
| DVL1dishevelled segment polarity protein 1 | Często (30–79%) | W 1 chorobie |
| EHMT1euchromatic histone lysine methyltransferase 1 | Często (30–79%) | W 1 chorobie |
| FBN1fibrillin 1 | Często (30–79%) | W 2 chorobach |
| FGFR3fibroblast growth factor receptor 3 | Często (30–79%) | W 5 chorobach |
| FOXC1forkhead box C1 | Często (30–79%) | W 1 chorobie |
| FZD2frizzled class receptor 2 | Często (30–79%) | W 1 chorobie |
| GLI2GLI family zinc finger 2 | Często (30–79%) | W 1 chorobie |
| GP1BBglycoprotein Ib platelet subunit beta | Często (30–79%) | W 1 chorobie |
| GSCgoosecoid homeobox | Często (30–79%) | W 1 chorobie |
| HBA1hemoglobin subunit alpha 1 | Często (30–79%) | W 1 chorobie |
| HBA2hemoglobin subunit alpha 2 | Często (30–79%) | W 1 chorobie |
| HIRAhistone cell cycle regulator | Często (30–79%) | W 1 chorobie |
| IPO8importin 8 | Często (30–79%) | W 1 chorobie |
| JMJD1Cjumonji domain containing 1C | Często (30–79%) | W 1 chorobie |
| LOXL3lysyl oxidase like 3 | Często (30–79%) | W 1 chorobie |
| LRP4LDL receptor related protein 4 | Często (30–79%) | W 2 chorobach |
| MBD5methyl-CpG binding domain protein 5 | Często (30–79%) | W 1 chorobie |
| MED12mediator complex subunit 12 | Często (30–79%) | W 1 chorobie |
| NEK1NIMA related kinase 1 | Często (30–79%) | W 1 chorobie |
| NGFnerve growth factor | Często (30–79%) | W 1 chorobie |
| NTRK1neurotrophic receptor tyrosine kinase 1 | Często (30–79%) | W 1 chorobie |
| PCGF2polycomb group ring finger 2 | Często (30–79%) | W 1 chorobie |
| PDZD8PDZ domain containing 8 | Często (30–79%) | W 1 chorobie |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Często (30–79%) | W 1 chorobie |
| POLEDNA polymerase epsilon, catalytic subunit | Często (30–79%) | W 1 chorobie |
| PRMT7protein arginine methyltransferase 7 | Często (30–79%) | W 1 chorobie |
| RHOAras homolog family member A | Często (30–79%) | W 1 chorobie |
| RNU12RNA, U12 small nuclear | Często (30–79%) | W 2 chorobach |
| RNU4ATACRNA, U4atac small nuclear | Często (30–79%) | W 1 chorobie |
| RPL17ribosomal protein L17 | Często (30–79%) | W 1 chorobie |
| RPS26ribosomal protein S26 | Często (30–79%) | W 1 chorobie |
| RREB1ras responsive element binding protein 1 | Często (30–79%) | W 1 chorobie |
| RUNX2RUNX family transcription factor 2 | Często (30–79%) | W 1 chorobie |
| SEC24CSEC24 homolog C, COPII component | Często (30–79%) | W 1 chorobie |
| SETD2SET domain containing 2, histone lysine methyltransferase | Często (30–79%) | W 2 chorobach |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Często (30–79%) | W 1 chorobie |
| SLC2A10solute carrier family 2 member 10 | Często (30–79%) | W 2 chorobach |
| SLC6A8solute carrier family 6 member 8 | Często (30–79%) | W 2 chorobach |
| SMAD2SMAD family member 2 | Często (30–79%) | W 1 chorobie |
| SMAD3SMAD family member 3 | Często (30–79%) | W 3 chorobach |
| STAG2STAG2 cohesin complex component | Często (30–79%) | W 1 chorobie |
| TBX1T-box transcription factor 1 | Często (30–79%) | W 1 chorobie |
| TFE3transcription factor binding to IGHM enhancer 3 | Często (30–79%) | W 1 chorobie |
| TGFB2transforming growth factor beta 2 | Często (30–79%) | W 1 chorobie |
| TGFB3transforming growth factor beta 3 | Często (30–79%) | W 1 chorobie |
| TGFBR1transforming growth factor beta receptor 1 | Często (30–79%) | W 2 chorobach |
| TGFBR2transforming growth factor beta receptor 2 | Często (30–79%) | W 2 chorobach |
| TRIM33tripartite motif containing 33 | Często (30–79%) | W 1 chorobie |
| UBE2Aubiquitin conjugating enzyme E2 A | Często (30–79%) | W 1 chorobie |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Często (30–79%) | W 1 chorobie |
| WNT5AWnt family member 5A | Często (30–79%) | W 1 chorobie |
| APCAPC regulator of Wnt signaling pathway | Czasami (5–29%) | W 1 chorobie |
| ASXL3ASXL transcriptional regulator 3 | Czasami (5–29%) | W 1 chorobie |
| BCRBCR activator of RhoGEF and GTPase | Czasami (5–29%) | W 1 chorobie |
| CDK10cyclin dependent kinase 10 | Czasami (5–29%) | W 1 chorobie |
| CNOT3CCR4-NOT transcription complex subunit 3 | Czasami (5–29%) | W 1 chorobie |
| COL5A1collagen type V alpha 1 chain | Czasami (5–29%) | W 1 chorobie |
| CRELD1CRELD disulfide isomerase 1 | Czasami (5–29%) | W 1 chorobie |
| CRKLCRK like proto-oncogene, adaptor protein | Czasami (5–29%) | W 1 chorobie |
| ELNelastin | Czasami (5–29%) | W 1 chorobie |
| ERFETS2 repressor factor | Czasami (5–29%) | W 1 chorobie |
| FAM50Afamily with sequence similarity 50 member A | Czasami (5–29%) | W 1 chorobie |
| GORABgolgin, RAB6 interacting | Czasami (5–29%) | W 2 chorobach |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Czasami (5–29%) | W 1 chorobie |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Czasami (5–29%) | W 2 chorobach |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Czasami (5–29%) | W 1 chorobie |
| LTBP4latent transforming growth factor beta binding protein 4 | Czasami (5–29%) | W 1 chorobie |
| MAN1B1mannosidase alpha class 1B member 1 | Czasami (5–29%) | W 2 chorobach |
| MAPK1mitogen-activated protein kinase 1 | Czasami (5–29%) | W 1 chorobie |
| MLXIPLMLX interacting protein like | Czasami (5–29%) | W 1 chorobie |
| NDPnorrin cystine knot growth factor NDP | Czasami (5–29%) | W 1 chorobie |
| NF1neurofibromin 1 | Czasami (5–29%) | W 2 chorobach |
| NPR3natriuretic peptide receptor 3 | Czasami (5–29%) | W 1 chorobie |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Czasami (5–29%) | W 1 chorobie |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Czasami (5–29%) | W 1 chorobie |
| POGZpogo transposable element derived with ZNF domain | Czasami (5–29%) | W 2 chorobach |
| PYCR1pyrroline-5-carboxylate reductase 1 | Czasami (5–29%) | W 2 chorobach |
| RBM8ARNA binding motif protein 8A | Czasami (5–29%) | W 1 chorobie |
| RFX7regulatory factor X7 | Czasami (5–29%) | W 1 chorobie |
| TATtyrosine aminotransferase | Czasami (5–29%) | W 1 chorobie |
| TBX4T-box transcription factor 4 | Czasami (5–29%) | W 1 chorobie |
| ZFXzinc finger protein X-linked | Czasami (5–29%) | W 1 chorobie |
| GJA5gap junction protein alpha 5 | Rzadko (1–4%) | W 1 chorobie |
| GJA8gap junction protein alpha 8 | Rzadko (1–4%) | W 1 chorobie |
| TP63tumor protein p63 | Rzadko (1–4%) | W 2 chorobach |
| AGLamylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase | Nie odnotowano | W 1 chorobie |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Nie odnotowano | W 1 chorobie |
| ATRXATRX chromatin remodeler | Nie odnotowano | W 2 chorobach |
| B3GALT6beta-1,3-galactosyltransferase 6 | Nie odnotowano | W 1 chorobie |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Nie odnotowano | W 1 chorobie |
| CCBE1collagen and calcium binding EGF domains 1 | Nie odnotowano | W 1 chorobie |
| CHD7chromodomain helicase DNA binding protein 7 | Nie odnotowano | W 1 chorobie |
| COL1A1collagen type I alpha 1 chain | Nie odnotowano | W 1 chorobie |
| CUL7cullin 7 | Nie odnotowano | W 1 chorobie |
| DCHS1dachsous cadherin-related 1 | Nie odnotowano | W 1 chorobie |
| DDR2discoidin domain receptor tyrosine kinase 2 | Nie odnotowano | W 1 chorobie |
| DNMT3BDNA methyltransferase 3 beta | Nie odnotowano | W 1 chorobie |
| EBPEBP cholestenol delta-isomerase | Nie odnotowano | W 1 chorobie |
| FAM20CFAM20C golgi associated secretory pathway kinase | Nie odnotowano | W 1 chorobie |
| FAT4FAT atypical cadherin 4 | Nie odnotowano | W 1 chorobie |
| GPC6glypican 6 | Nie odnotowano | W 1 chorobie |
| HSPG2heparan sulfate proteoglycan 2 | Nie odnotowano | W 2 chorobach |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Nie odnotowano | W 1 chorobie |
| KIF22kinesin family member 22 | Nie odnotowano | W 1 chorobie |
| LIFRLIF receptor subunit alpha | Nie odnotowano | W 1 chorobie |
| LMNAlamin A/C | Nie odnotowano | W 1 chorobie |
| LRP2LDL receptor related protein 2 | Nie odnotowano | W 1 chorobie |
| LRPPRCleucine rich pentatricopeptide repeat containing | Nie odnotowano | W 1 chorobie |
| MAFMAF bZIP transcription factor | Nie odnotowano | W 1 chorobie |
| MAN2B1mannosidase alpha class 2B member 1 | Nie odnotowano | W 1 chorobie |
| MGPmatrix Gla protein | Nie odnotowano | W 1 chorobie |
| MYH3myosin heavy chain 3 | Nie odnotowano | W 1 chorobie |
| NECTIN1nectin cell adhesion molecule 1 | Nie odnotowano | W 1 chorobie |
| PAX3paired box 3 | Nie odnotowano | W 1 chorobie |
| PEX1peroxisomal biogenesis factor 1 | Nie odnotowano | W 1 chorobie |
| PEX12peroxisomal biogenesis factor 12 | Nie odnotowano | W 1 chorobie |
| PEX7peroxisomal biogenesis factor 7 | Nie odnotowano | W 1 chorobie |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Nie odnotowano | W 1 chorobie |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Nie odnotowano | W 1 chorobie |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Nie odnotowano | W 1 chorobie |
| PORcytochrome p450 oxidoreductase | Nie odnotowano | W 2 chorobach |
| POU1F1POU class 1 homeobox 1 | Nie odnotowano | W 1 chorobie |
| PYCR2pyrroline-5-carboxylate reductase 2 | Nie odnotowano | W 1 chorobie |
| RAB23RAB23, member RAS oncogene family | Nie odnotowano | W 1 chorobie |
| RLIMring finger protein, LIM domain interacting | Nie odnotowano | W 1 chorobie |
| ROR2ROR family WNT receptor 2 | Nie odnotowano | W 1 chorobie |
| SATB2SATB homeobox 2 | Nie odnotowano | W 1 chorobie |
| SEC23ASEC23 homolog A, COPII component | Nie odnotowano | W 1 chorobie |
| SERPINH1serpin family H member 1 | Nie odnotowano | W 1 chorobie |
| SETBP1SET binding protein 1 | Nie odnotowano | W 1 chorobie |
| SF3B2splicing factor 3b subunit 2 | Nie odnotowano | W 1 chorobie |
| SHHsonic hedgehog signaling molecule | Nie odnotowano | W 1 chorobie |
| SIX3SIX homeobox 3 | Nie odnotowano | W 1 chorobie |
| SLC26A2solute carrier family 26 member 2 | Nie odnotowano | W 2 chorobach |
| SMAD4SMAD family member 4 | Nie odnotowano | W 1 chorobie |
| SNRPBsmall nuclear ribonucleoprotein polypeptides B and B1 | Nie odnotowano | W 1 chorobie |
| SOSTsclerostin | Nie odnotowano | W 1 chorobie |
| TFAP2Atranscription factor AP-2 alpha | Nie odnotowano | W 1 chorobie |
| TMEM237transmembrane protein 237 | Nie odnotowano | W 1 chorobie |
| TONSLtonsoku like, DNA repair protein | Nie odnotowano | W 1 chorobie |
| TWIST1twist family bHLH transcription factor 1 | Nie odnotowano | W 2 chorobach |
| ZBTB20zinc finger and BTB domain containing 20 | 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 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 2026.10.19-9814e911.
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