AtlasKimlere Yardımcı OluyoruzBilimimizÜrünlerSonuçlar
Giriş YapSorGenomunuzu dizileyin↗
Özellik
Narrow mouth
Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).
Özet
- Diğer adları
- Small mouth, Microstomia, Small oral aperture
- Vücut sistemi
- Abnormality of head or neck
AtlasKimlere Yardımcı OluyoruzBilimimizÜrünlerSonuçlar
Giriş YapSorGenomunuzu dizileyin↗
Bu sayfanın veri olarak görünümü
Veriyi JSON olarak okumak için sayfa adresinin sonuna .json ekleyin veya application/json isteyin.
library(jsonlite)
url <- "https://dantelabs.com/traits/narrow-mouth.json"
page <- fromJSON(url)
page$trait$nameNarrow mouthHP:0000160
AtlasKimlere Yardımcı OluyoruzBilimimizÜrünlerSonuçlar
Giriş YapSorGenomunuzu dizileyin↗
Narrow mouth ile bağlantılı genleri ve genomunuzun geri kalanını tek bir testle okuyun.
$449'den başlayanÜcretsiz kargo · Sonuçlar 6–8 hafta içinde
Genome Test'imi al130 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.
- Treacher Collins SyndromeReads 4 of these genesPOLR1BPOLR1CPOLR1DTCOF1About this report →
- Intellectual DisabilityReads 29 of these genesCREBBPDCPSEP300MED12PQBP1SMAD4About this report →
- MTOR Pathway Megalencephaly and Overgrowth DisordersReads 4 of these genesAKT3CCND2PIK3R2PIK3CAAbout this report →
- Juvenile Polyposis SyndromeReads 2 of these genesSMAD4BMPR1AAbout this report →
Show 126 more reports
- Otospondylomegaepiphyseal Dysplasia (OSMED)Reads 2 of these genesCOL11A2COL2A1About this report →
- Congenital MyopathiesReads 6 of these genesNEBSPEGBIN1RYR1TPM2TTNAbout this report →
- Syndromic CraniosynostosisReads 6 of these genesFGFR2KAT6ARECQL4SKITWIST1PORAbout this report →
- Achondrogenesis panelReads 2 of these genesSLC26A2COL2A1About this report →
- 22q11.2 Deletion SyndromeReads 1 of these genesTBX1About this report →
- Auriculocondylar Syndrome 2 (PLCB4)Reads 1 of these genesPLCB4About this report →
- Bent Bone Dysplasia Syndrome (FGFR2)Reads 1 of these genesFGFR2About this report →
- Bryant-Li-Bhoj Neurodevelopmental Syndrome (H3-3A)Reads 1 of these genesH3-3AAbout this report →
- Burn-McKeown SyndromeReads 1 of these genesTXNL4AAbout this report →
- Campomelic DysplasiaReads 1 of these genesSOX9About this report →
- Catel-Manzke SyndromeReads 1 of these genesTGDSAbout this report →
- CHARGE SyndromeReads 1 of these genesCHD7About this report →
- CHRNG-Related Multiple Pterygium SyndromeReads 1 of these genesCHRNGAbout this report →
- Desbuquois Dysplasia 1Reads 1 of these genesCANT1About this report →
- DesmosterolosisReads 1 of these genesDHCR24About this report →
- Dias-Logan SyndromeReads 1 of these genesBCL11AAbout this report →
- Dravet SyndromeReads 1 of these genesSCN1AAbout this report →
- Dyssegmental Dysplasia, Silverman-Handmaker TypeReads 1 of these genesHSPG2About this report →
- FAT4-Related Neurodevelopmental DisorderReads 1 of these genesFAT4About this report →
- Gaucher DiseaseReads 1 of these genesGBA1About this report →
- GM1 Gangliosidosis and Morquio B SyndromeReads 1 of these genesGLB1About this report →
- Hajdu-Cheney SyndromeReads 1 of these genesNOTCH2About this report →
- Kaufman Oculocerebrofacial SyndromeReads 1 of these genesUBE3BAbout this report →
- Marshall-Smith SyndromeReads 1 of these genesNFIXAbout this report →
- MDPL SyndromeReads 1 of these genesPOLD1About this report →
- Meier-Gorlin Syndrome 3 (ORC6)Reads 1 of these genesORC6About this report →
- Meier-Gorlin Syndrome 4Reads 1 of these genesCDT1About this report →
- Meier-Gorlin Syndrome 7 (CDC45)Reads 1 of these genesCDC45About this report →
- MTX2-Related Mandibuloacral DysplasiaReads 1 of these genesMTX2About this report →
- Nail-Patella SyndromeReads 1 of these genesLMX1BAbout this report →
- NFIA-Related Brain MalformationsReads 1 of these genesNFIAAbout this report →
- Nizon-Isidor SyndromeReads 1 of these genesMED12LAbout this report →
- P5CS Deficiency (ALDH18A1-Related)Reads 1 of these genesALDH18A1About this report →
- POLR1C-Related DisorderReads 1 of these genesPOLR1CAbout this report →
- POLR3A-Related DisorderReads 1 of these genesPOLR3AAbout this report →
- Primrose SyndromeReads 1 of these genesZBTB20About this report →
- Radio-Tartaglia SyndromeReads 1 of these genesSPENAbout this report →
- Raine SyndromeReads 1 of these genesFAM20CAbout this report →
- Restrictive Dermopathy (ZMPSTE24)Reads 1 of these genesZMPSTE24About this report →
- Rett Syndrome and MECP2-Related DisordersReads 1 of these genesMECP2About this report →
- RTTN-Related Microcephalic Primordial DwarfismReads 1 of these genesRTTNAbout this report →
- Schwartz-Jampel Syndrome Type 1Reads 1 of these genesHSPG2About this report →
- Spondyloepiphyseal Dysplasia With Congenital Joint DislocationsReads 1 of these genesCHST3About this report →
- Stankiewicz-Isidor SyndromeReads 1 of these genesPSMD12About this report →
- Turnpenny-Fry SyndromeReads 1 of these genesPCGF2About this report →
- ZTTK SyndromeReads 1 of these genesSONAbout this report →
- Congenital Disorders of GlycosylationReads 9 of these genesCHST14COG7DSEB3GAT3COG1PIGAAbout this report →
- Periventricular Nodular HeterotopiaReads 2 of these genesFLNANEDD4LAbout this report →
- Ehlers-Danlos SyndromeReads 4 of these genesCHST14B4GALT7DSECOL3A1About this report →
- LipodystrophyReads 3 of these genesZMPSTE24LMNACAV1About this report →
- Colorectal Cancer & PolyposisReads 2 of these genesAPCPOLD1About this report →
- Cutis LaxaReads 3 of these genesATP6V1E1ALDH18A1ATP6V0A2About this report →
- Primary Lymphoedema & Lymphatic MalformationsReads 3 of these genesFAT4ADAMTS3CCBE1About this report →
- Alagille SyndromeReads 1 of these genesNOTCH2About this report →
- Cowden Syndrome (PTEN hamartoma tumour syndrome)Reads 1 of these genesPTENAbout this report →
- Fontaine Progeroid SyndromeReads 1 of these genesSLC25A24About this report →
- Hereditary Mixed Polyposis SyndromeReads 1 of these genesBMPR1AAbout this report →
- Malignant Hyperthermia SusceptibilityReads 1 of these genesRYR1About this report →
- Nevoid Basal Cell Carcinoma (Gorlin) SyndromeReads 1 of these genesPTCH1About this report →
- Epiphyseal and Spondyloepiphyseal DysplasiasReads 2 of these genesSLC26A2COL2A1About this report →
- Marfan Like SyndromesReads 2 of these genesFBN1SKIAbout this report →
- Lissencephaly Spectrum DisordersReads 3 of these genesPAFAH1B1RAB3GAP1TBC1D20About this report →
- Epilepsy (Full Panel)Reads 8 of these genesFLNAGABRA3PHACTR1PIGASTXBP1SCN1AAbout this report →
- Familial Hemiplegic MigraineReads 1 of these genesSCN1AAbout this report →
- Fraser SyndromeReads 1 of these genesFREM2About this report →
- Monogenic Precocious PubertyReads 1 of these genesDLK1About this report →
- Rothmund-Thomson SyndromeReads 1 of these genesRECQL4About this report →
- Van der Woude and Popliteal Pterygium Syndromes (IRF6)Reads 1 of these genesRIPK4About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 3 of these genesOTX2RAB3GAP1TBC1D20About this report →
- Myofibrillar MyopathiesReads 2 of these genesRYR1TTNAbout this report →
- Osteogenesis ImperfectaReads 3 of these genesSP7POLR3AATP6V0A2About this report →
- Complex Neurodevelopmental Disorder (TRRAP, MYH10, RERE, SOX11)Reads 1 of these genesREREAbout this report →
- Hereditary Hemorrhagic TelangiectasiaReads 1 of these genesSMAD4About this report →
- Overgrowth Syndromes (Sotos, Weaver, Tatton-Brown-Rahman, Malan)Reads 1 of these genesNFIXAbout this report →
- TubulinopathiesReads 1 of these genesTUBBAbout this report →
- Epidermolysis BullosaReads 2 of these genesCOL7A1ITGA3About this report →
- GPI Anchor Biosynthesis DefectsReads 2 of these genesPIGAPIGNAbout this report →
- Mosaic Variegated Aneuploidy SyndromeReads 1 of these genesCEP57About this report →
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)Reads 2 of these genesCLCF1CRLF1About this report →
- Dilated CardiomyopathyReads 3 of these genesLMNAPRDM16TTNAbout this report →
- Hereditary Congenital & Juvenile CataractReads 2 of these genesLEMD2MAFAbout this report →
- Growth Hormone Insensitivity & IGF-1 Axis DisordersReads 1 of these genesIGF1RAbout this report →
- Hereditary Visceral Myopathy, CIPO & MMIHSReads 1 of these genesFLNAAbout this report →
- Heritable Pulmonary Arterial Hypertension (HPAH)Reads 1 of these genesCAV1About this report →
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesReads 2 of these genesPOLR3APOLR1CAbout this report →
- Non-Acquired Combined Pituitary Hormone DeficiencyReads 2 of these genesOTX2PTCH1About this report →
- VitreoretinopathyReads 2 of these genesCOL11A1COL2A1About this report →
- Congenital Adrenal HyperplasiaReads 1 of these genesPORAbout this report →
- Waardenburg SyndromeReads 1 of these genesPAX3About this report →
- Progressive Cardiac Conduction Disease & Sick Sinus SyndromeReads 1 of these genesLMNAAbout this report →
- Limb-Girdle Muscular DystrophyReads 2 of these genesLMNATTNAbout this report →
- Other Inborn Errors of ImmunityReads 5 of these genesRELBCL11BTBX1POLD1SKIC3About this report →
- Inherited Platelet Function DisordersReads 1 of these genesGP1BBAbout this report →
- Rare Hereditary Peripheral NeuropathiesReads 5 of these genesIARS2LMNACLCF1CRLF1SEPTIN9About this report →
- Long QT SyndromeReads 1 of these genesCACNA1CAbout this report →
- Inherited Neurodegenerative DisordersReads 6 of these genesNALCNPOLR3ATRIP4CAMTA1POLR1CALDH18A1About this report →
- Hearing Loss and DeafnessReads 3 of these genesKARS1COL11A1COL11A2About this report →
- Hypogonadotropic HypogonadismReads 2 of these genesOTX2CHD7About this report →
- Aortic AneurysmReads 1 of these genesFBN1About this report →
- Inherited Congenital Heart DefectsReads 1 of these genesFLNAAbout this report →
- Diamond-Blackfan AnemiaReads 1 of these genesHEATR3About this report →
- OsteopetrosisReads 1 of these genesCA2About this report →
- Lysosomal Storage DiseaseReads 2 of these genesGLB1GBA1About this report →
- Complex Cortical Dysplasia and Frontoparietal PolymicrogyriaReads 1 of these genesTUBBAbout this report →
- Parkinson DiseaseReads 1 of these genesGBA1About this report →
- Ectodermal DysplasiasReads 1 of these genesTP63About this report →
- Distal MyopathiesReads 1 of these genesTTNAbout this report →
- Other Inherited LeukodystrophiesReads 2 of these genesPOLR3APOLR1CAbout this report →
- Autoimmune DiseaseReads 1 of these genesCHRNGAbout this report →
- Noonan SyndromeReads 1 of these genesMAPK1About this report →
- Bardet-Biedl and Alström SyndromesReads 1 of these genesBBS7About this report →
- Syndromic Complex Neurodevelopmental DisorderReads 1 of these genesRNU4-2About this report →
- Congenital Myasthenic SyndromeReads 1 of these genesMUSKAbout this report →
- Congenital Muscular DystrophiesReads 1 of these genesTRIP4About this report →
- Diabetes MellitusReads 1 of these genesZBTB20About this report →
- Severe Combined ImmunodeficiencyReads 1 of these genesBCL11BAbout this report →
- Inherited ThrombocytopeniasReads 1 of these genesGP1BBAbout this report →
- Rare Monogenic Autoinflammatory DiseasesReads 1 of these genesSKIC3About this report →
- Hereditary Palmoplantar Keratodermas and Pachyonychia CongenitaReads 1 of these genesGJA1About this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 1 of these genesCAMTA1About this report →
- Joubert Syndrome And Related DisordersReads 1 of these genesKIF7About this report →
- Female InfertilityReads 1 of these genesTP63About this report →
- Hypertrophic CardiomyopathyReads 1 of these genesMAPK1About this report →
- Hereditary Spastic ParaplegiaReads 1 of these genesALDH18A1About this report →
- Charcot-Marie-Tooth DiseaseReads 1 of these genesLMNAAbout this report →
- Primary Mitochondrial DiseaseReads 1 of these genesTRMT5About this report →
Narrow mouth ile bağlantılı genleri ve genomunuzun geri kalanını tek bir testle okuyun.
$449'den başlayanÜcretsiz kargo · Sonuçlar 6–8 hafta içinde
Genome Test'imi alNarrow mouth ile ilişkili 245 gen
Bu genlerdeki değişiklikler, Narrow mouth özelliğinin görüldüğü nadir durumlara yol açar. Bu özelliğe sahip çoğu kişide bu durumlardan hiçbiri yoktur; ayrıca bu listedeki bir gen, kimsenin kendi genomu hakkında bir şey söylemez.
| Gen | Ne sıklıkla görüldüğü | Durumlar |
|---|---|---|
| AMMECR1AMMECR nuclear protein 1 | Her zaman | 1 durumda |
| BBS7Bardet-Biedl syndrome 7 | Her zaman | 1 durumda |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Her zaman | 1 durumda |
| CEP57centrosomal protein 57 | Her zaman | 1 durumda |
| CHST14carbohydrate sulfotransferase 14 | Her zaman | 2 durumda |
| COG7component of oligomeric golgi complex 7 | Her zaman | 2 durumda |
| CREBBPCREB binding lysine acetyltransferase | Her zaman | 1 durumda |
| DCPSdecapping enzyme, scavenger | Her zaman | 1 durumda |
| DONSONDNA replication fork stabilization factor DONSON | Her zaman | 2 durumda |
| EIF4A2eukaryotic translation initiation factor 4A2 | Her zaman | 1 durumda |
| EP300EP300 lysine acetyltransferase | Her zaman | 2 durumda |
| FGFR2fibroblast growth factor receptor 2 | Her zaman | 2 durumda |
| FLNAfilamin A | Her zaman | 3 durumda |
| GLB1galactosidase beta 1 | Her zaman | 1 durumda |
| GNB2G protein subunit beta 2 | Her zaman | 1 durumda |
| KARS1lysyl-tRNA synthetase 1 | Her zaman | 1 durumda |
| MCM5minichromosome maintenance complex component 5 | Her zaman | 1 durumda |
| MDM2MDM2 proto-oncogene | Her zaman | 1 durumda |
| MED12mediator complex subunit 12 | Her zaman | 1 durumda |
| MED16mediator complex subunit 16 | Her zaman | 1 durumda |
| MYH3myosin heavy chain 3 | Her zaman | 4 durumda |
| NAA80N-alpha-acetyltransferase 80, NatH catalytic subunit | Her zaman | 1 durumda |
| NOTCH2notch receptor 2 | Her zaman | 2 durumda |
| ORC4origin recognition complex subunit 4 | Her zaman | 2 durumda |
| PLCB4phospholipase C beta 4 | Her zaman | 3 durumda |
| PRRX1paired related homeobox 1 | Her zaman | 2 durumda |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Her zaman | 1 durumda |
| SCARF2scavenger receptor class F member 2 | Her zaman | 2 durumda |
| SCYL2SCY1 like pseudokinase 2 | Her zaman | 1 durumda |
| SP7Sp7 transcription factor | Her zaman | 1 durumda |
| TM2D3TM2 domain containing 3 | Her zaman | 1 durumda |
| TMLHEtrimethyllysine hydroxylase, epsilon | Her zaman | 1 durumda |
| TOP2BDNA topoisomerase II beta | Her zaman | 1 durumda |
| TP63tumor protein p63 | Her zaman | 1 durumda |
| TUBBtubulin beta class I | Her zaman | 1 durumda |
| UBE3Bubiquitin protein ligase E3B | Her zaman | 1 durumda |
| ZMPSTE24zinc metallopeptidase STE24 | Her zaman | 5 durumda |
| B4GALT7beta-1,4-galactosyltransferase 7 | Çok sık (%80–99) | 2 durumda |
| BCL11ABCL11 transcription factor A | Çok sık (%80–99) | 1 durumda |
| CDC45cell division cycle 45 | Çok sık (%80–99) | 2 durumda |
205 gen daha göster
| Gen | Ne sıklıkla görüldüğü | Durumlar |
|---|---|---|
| CDC6cell division cycle 6 | Çok sık (%80–99) | 1 durumda |
| CDT1chromatin licensing and DNA replication factor 1 | Çok sık (%80–99) | 2 durumda |
| DSEdermatan sulfate epimerase | Çok sık (%80–99) | 2 durumda |
| EIF4A3eukaryotic translation initiation factor 4A3 | Çok sık (%80–99) | 1 durumda |
| GMNNgeminin DNA replication inhibitor | Çok sık (%80–99) | 1 durumda |
| HDAC9histone deacetylase 9 | Çok sık (%80–99) | 1 durumda |
| HSPG2heparan sulfate proteoglycan 2 | Çok sık (%80–99) | 5 durumda |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Çok sık (%80–99) | 2 durumda |
| LMNAlamin A/C | Çok sık (%80–99) | 2 durumda |
| MADDMAP kinase activating death domain | Çok sık (%80–99) | 1 durumda |
| NALCNsodium leak channel, non-selective | Çok sık (%80–99) | 3 durumda |
| ORC1origin recognition complex subunit 1 | Çok sık (%80–99) | 2 durumda |
| ORC6origin recognition complex subunit 6 | Çok sık (%80–99) | 2 durumda |
| OTX2orthodenticle homeobox 2 | Çok sık (%80–99) | 1 durumda |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Çok sık (%80–99) | 1 durumda |
| PAX3paired box 3 | Çok sık (%80–99) | 1 durumda |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Çok sık (%80–99) | 2 durumda |
| POLR3ARNA polymerase III subunit A | Çok sık (%80–99) | 2 durumda |
| PQBP1polyglutamine binding protein 1 | Çok sık (%80–99) | 2 durumda |
| PTCH1patched 1 | Çok sık (%80–99) | 1 durumda |
| RELREL proto-oncogene, NF-kB subunit | Çok sık (%80–99) | 1 durumda |
| SH2B1SH2B adaptor protein 1 | Çok sık (%80–99) | 1 durumda |
| SMAD4SMAD family member 4 | Çok sık (%80–99) | 2 durumda |
| XPO1exportin 1 | Çok sık (%80–99) | 1 durumda |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Çok sık (%80–99) | 1 durumda |
| AKT3AKT serine/threonine kinase 3 | Sık (%30–79) | 1 durumda |
| APCAPC regulator of Wnt signaling pathway | Sık (%30–79) | 1 durumda |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Sık (%30–79) | 1 durumda |
| ATXN7L3ataxin 7 like 3 | Sık (%30–79) | 1 durumda |
| AUTS2activator of transcription and developmental regulator AUTS2 | Sık (%30–79) | 2 durumda |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Sık (%30–79) | 1 durumda |
| BMP2bone morphogenetic protein 2 | Sık (%30–79) | 1 durumda |
| CASZ1castor zinc finger 1 | Sık (%30–79) | 1 durumda |
| CAV1caveolin 1 | Sık (%30–79) | 1 durumda |
| CCND2cyclin D2 | Sık (%30–79) | 1 durumda |
| CDK13cyclin dependent kinase 13 | Sık (%30–79) | 1 durumda |
| CENPTcentromere protein T | Sık (%30–79) | 1 durumda |
| CHD6chromodomain helicase DNA binding protein 6 | Sık (%30–79) | 1 durumda |
| CHD7chromodomain helicase DNA binding protein 7 | Sık (%30–79) | 1 durumda |
| CHRNGcholinergic receptor nicotinic gamma subunit | Sık (%30–79) | 1 durumda |
| CHST3carbohydrate sulfotransferase 3 | Sık (%30–79) | 1 durumda |
| COG1component of oligomeric golgi complex 1 | Sık (%30–79) | 2 durumda |
| COL11A1collagen type XI alpha 1 chain | Sık (%30–79) | 2 durumda |
| COL11A2collagen type XI alpha 2 chain | Sık (%30–79) | 1 durumda |
| DHCR2424-dehydrocholesterol reductase | Sık (%30–79) | 1 durumda |
| ECEL1endothelin converting enzyme like 1 | Sık (%30–79) | 1 durumda |
| EDN1endothelin 1 | Sık (%30–79) | 1 durumda |
| FAT4FAT atypical cadherin 4 | Sık (%30–79) | 3 durumda |
| FBN1fibrillin 1 | Sık (%30–79) | 2 durumda |
| GABRA3gamma-aminobutyric acid type A receptor subunit alpha3 | Sık (%30–79) | 1 durumda |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Sık (%30–79) | 1 durumda |
| GNAI3G protein subunit alpha i3 | Sık (%30–79) | 2 durumda |
| HIVEP2HIVEP zinc finger 2 | Sık (%30–79) | 1 durumda |
| KAT6Alysine acetyltransferase 6A | Sık (%30–79) | 1 durumda |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Sık (%30–79) | 1 durumda |
| LEMD2LEM domain nuclear envelope protein 2 | Sık (%30–79) | 1 durumda |
| LGI3leucine rich repeat LGI family member 3 | Sık (%30–79) | 1 durumda |
| LMX1BLIM homeobox transcription factor 1 beta | Sık (%30–79) | 1 durumda |
| LTBP3latent transforming growth factor beta binding protein 3 | Sık (%30–79) | 1 durumda |
| LUZP1leucine zipper protein 1 | Sık (%30–79) | 1 durumda |
| MAFMAF bZIP transcription factor | Sık (%30–79) | 2 durumda |
| MMP23Bmatrix metallopeptidase 23B | Sık (%30–79) | 1 durumda |
| MTX2metaxin 2 | Sık (%30–79) | 1 durumda |
| MYL11myosin light chain 11 | Sık (%30–79) | 1 durumda |
| NEBnebulin | Sık (%30–79) | 1 durumda |
| NFIXnuclear factor I X | Sık (%30–79) | 3 durumda |
| NONOnon-POU domain containing octamer binding | Sık (%30–79) | 1 durumda |
| PCGF2polycomb group ring finger 2 | Sık (%30–79) | 1 durumda |
| PDPNpodoplanin | Sık (%30–79) | 1 durumda |
| PHACTR1phosphatase and actin regulator 1 | Sık (%30–79) | 1 durumda |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Sık (%30–79) | 1 durumda |
| PIGFphosphatidylinositol glycan anchor biosynthesis class F | Sık (%30–79) | 1 durumda |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Sık (%30–79) | 1 durumda |
| PRDM16PR/SET domain 16 | Sık (%30–79) | 1 durumda |
| PRKCZprotein kinase C zeta | Sık (%30–79) | 1 durumda |
| RBSNrabenosyn, RAB effector | Sık (%30–79) | 1 durumda |
| RECQL4RecQ like helicase 4 | Sık (%30–79) | 2 durumda |
| REREarginine-glutamic acid dipeptide repeats | Sık (%30–79) | 1 durumda |
| RIPK4receptor interacting serine/threonine kinase 4 | Sık (%30–79) | 1 durumda |
| RNF2ring finger protein 2 | Sık (%30–79) | 1 durumda |
| RNH1ribonuclease/angiogenin inhibitor 1 | Sık (%30–79) | 1 durumda |
| RSPO2R-spondin 2 | Sık (%30–79) | 1 durumda |
| SCNM1sodium channel modifier 1 | Sık (%30–79) | 1 durumda |
| SEMA3Esemaphorin 3E | Sık (%30–79) | 1 durumda |
| SKISKI proto-oncogene | Sık (%30–79) | 1 durumda |
| SPEGstriated muscle enriched protein kinase | Sık (%30–79) | 2 durumda |
| SPENspen family transcriptional repressor | Sık (%30–79) | 1 durumda |
| STXBP1syntaxin binding protein 1 | Sık (%30–79) | 1 durumda |
| TBX4T-box transcription factor 4 | Sık (%30–79) | 2 durumda |
| TRIM33tripartite motif containing 33 | Sık (%30–79) | 1 durumda |
| TRIP4thyroid hormone receptor interactor 4 | Sık (%30–79) | 1 durumda |
| TRMT5tRNA methyltransferase 5 | Sık (%30–79) | 1 durumda |
| TWIST1twist family bHLH transcription factor 1 | Sık (%30–79) | 1 durumda |
| UBE4Bubiquitination factor E4B | Sık (%30–79) | 1 durumda |
| WNT3Wnt family member 3 | Sık (%30–79) | 1 durumda |
| ZBTB20zinc finger and BTB domain containing 20 | Sık (%30–79) | 1 durumda |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Bazen (%5–29) | 1 durumda |
| AHDC1AT-hook DNA binding motif containing 1 | Bazen (%5–29) | 1 durumda |
| ARVCFARVCF delta catenin family member | Bazen (%5–29) | 1 durumda |
| ASXL1ASXL transcriptional regulator 1 | Bazen (%5–29) | 1 durumda |
| BCL11BBCL11 transcription factor B | Bazen (%5–29) | 1 durumda |
| BCRBCR activator of RhoGEF and GTPase | Bazen (%5–29) | 1 durumda |
| BIN1bridging integrator 1 | Bazen (%5–29) | 1 durumda |
| BMPR1Abone morphogenetic protein receptor type 1A | Bazen (%5–29) | 1 durumda |
| BPTFbromodomain PHD finger transcription factor | Bazen (%5–29) | 1 durumda |
| CA2carbonic anhydrase 2 | Bazen (%5–29) | 1 durumda |
| CAMTA1calmodulin binding transcription activator 1 | Bazen (%5–29) | 2 durumda |
| CCBE1collagen and calcium binding EGF domains 1 | Bazen (%5–29) | 2 durumda |
| CHSY1chondroitin sulfate synthase 1 | Bazen (%5–29) | 1 durumda |
| CLCF1cardiotrophin like cytokine factor 1 | Bazen (%5–29) | 1 durumda |
| CLCN3Cl-/H+ antiporter 3 | Bazen (%5–29) | 1 durumda |
| COL3A1collagen type III alpha 1 chain | Bazen (%5–29) | 1 durumda |
| COL7A1collagen type VII alpha 1 chain | Bazen (%5–29) | 3 durumda |
| COMTcatechol-O-methyltransferase | Bazen (%5–29) | 1 durumda |
| CRELD1CRELD disulfide isomerase 1 | Bazen (%5–29) | 1 durumda |
| CRKLCRK like proto-oncogene, adaptor protein | Bazen (%5–29) | 1 durumda |
| CRLF1cytokine receptor like factor 1 | Bazen (%5–29) | 2 durumda |
| CTCFCCCTC-binding factor | Bazen (%5–29) | 2 durumda |
| DCHS1dachsous cadherin-related 1 | Bazen (%5–29) | 1 durumda |
| DLK1delta like non-canonical Notch ligand 1 | Bazen (%5–29) | 2 durumda |
| EXTL3exostosin like glycosyltransferase 3 | Bazen (%5–29) | 1 durumda |
| FBXO11F-box protein 11 | Bazen (%5–29) | 1 durumda |
| FREM2FRAS1 related extracellular matrix 2 | Bazen (%5–29) | 1 durumda |
| GP1BBglycoprotein Ib platelet subunit beta | Bazen (%5–29) | 1 durumda |
| GRB10growth factor receptor bound protein 10 | Bazen (%5–29) | 1 durumda |
| GSCgoosecoid homeobox | Bazen (%5–29) | 1 durumda |
| HEATR3HEAT repeat containing 3 | Bazen (%5–29) | 1 durumda |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Bazen (%5–29) | 1 durumda |
| HIRAhistone cell cycle regulator | Bazen (%5–29) | 1 durumda |
| JMJD1Cjumonji domain containing 1C | Bazen (%5–29) | 1 durumda |
| KDM2Blysine demethylase 2B | Bazen (%5–29) | 1 durumda |
| MAPK1mitogen-activated protein kinase 1 | Bazen (%5–29) | 1 durumda |
| MAPRE2microtubule associated protein RP/EB family member 2 | Bazen (%5–29) | 1 durumda |
| MED12Lmediator complex subunit 12L | Bazen (%5–29) | 1 durumda |
| MEG3maternally expressed 3 | Bazen (%5–29) | 2 durumda |
| MMP1matrix metallopeptidase 1 | Bazen (%5–29) | 1 durumda |
| MUSKmuscle associated receptor tyrosine kinase | Bazen (%5–29) | 1 durumda |
| MYBPC1myosin binding protein C1 | Bazen (%5–29) | 2 durumda |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Bazen (%5–29) | 1 durumda |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Bazen (%5–29) | 1 durumda |
| POGZpogo transposable element derived with ZNF domain | Bazen (%5–29) | 1 durumda |
| POLR1BRNA polymerase I subunit B | Bazen (%5–29) | 1 durumda |
| POLR1CRNA polymerase I and III subunit C | Bazen (%5–29) | 1 durumda |
| POLR1DRNA polymerase I and III subunit D | Bazen (%5–29) | 1 durumda |
| PORcytochrome p450 oxidoreductase | Bazen (%5–29) | 1 durumda |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Bazen (%5–29) | 2 durumda |
| PTENphosphatase and tensin homolog | Bazen (%5–29) | 2 durumda |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Bazen (%5–29) | 1 durumda |
| RPL10ribosomal protein L10 | Bazen (%5–29) | 2 durumda |
| RREB1ras responsive element binding protein 1 | Bazen (%5–29) | 1 durumda |
| RTL1retrotransposon Gag like 1 | Bazen (%5–29) | 2 durumda |
| RTTNrotatin | Bazen (%5–29) | 2 durumda |
| RYR1ryanodine receptor 1 | Bazen (%5–29) | 2 durumda |
| SATB2SATB homeobox 2 | Bazen (%5–29) | 3 durumda |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Bazen (%5–29) | 1 durumda |
| SEC24CSEC24 homolog C, COPII component | Bazen (%5–29) | 1 durumda |
| SEPTIN9septin 9 | Bazen (%5–29) | 2 durumda |
| SETBP1SET binding protein 1 | Bazen (%5–29) | 1 durumda |
| SIN3ASIN3 transcription regulator family member A | Bazen (%5–29) | 2 durumda |
| SLC26A2solute carrier family 26 member 2 | Bazen (%5–29) | 1 durumda |
| SMSspermine synthase | Bazen (%5–29) | 1 durumda |
| SOX6SRY-box transcription factor 6 | Bazen (%5–29) | 1 durumda |
| SOX9SRY-box transcription factor 9 | Bazen (%5–29) | 1 durumda |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Bazen (%5–29) | 1 durumda |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Bazen (%5–29) | 1 durumda |
| TAF6TATA-box binding protein associated factor 6 | Bazen (%5–29) | 1 durumda |
| TBX1T-box transcription factor 1 | Bazen (%5–29) | 1 durumda |
| TCOF1treacle ribosome biogenesis factor 1 | Bazen (%5–29) | 2 durumda |
| TGDSTDP-glucose 4,6-dehydratase | Bazen (%5–29) | 1 durumda |
| TNNI2troponin I2, fast skeletal type | Bazen (%5–29) | 2 durumda |
| TNNT3troponin T3, fast skeletal type | Bazen (%5–29) | 2 durumda |
| TPM2tropomyosin 2 | Bazen (%5–29) | 2 durumda |
| TRMT10AtRNA methyltransferase 10A | Bazen (%5–29) | 1 durumda |
| TTNtitin | Bazen (%5–29) | 1 durumda |
| TXNL4Athioredoxin like 4A | Bazen (%5–29) | 1 durumda |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Bazen (%5–29) | 1 durumda |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Bazen (%5–29) | 1 durumda |
| H3-3AH3.3 histone A | Seyrek (%1–4) | 1 durumda |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Seyrek (%1–4) | 1 durumda |
| KIF7kinesin family member 7 | Seyrek (%1–4) | 1 durumda |
| POU4F1POU class 4 homeobox 1 | Seyrek (%1–4) | 1 durumda |
| RNU4-2RNA, U4 small nuclear 2 | Seyrek (%1–4) | 1 durumda |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Kaydedilmedi | 1 durumda |
| ATAD3AATPase family AAA domain containing 3A | Kaydedilmedi | 1 durumda |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Kaydedilmedi | 1 durumda |
| BPNT23'(2'), 5'-bisphosphate nucleotidase 2 | Kaydedilmedi | 1 durumda |
| CANT1calcium activated nucleotidase 1 | Kaydedilmedi | 1 durumda |
| COL2A1collagen type II alpha 1 chain | Kaydedilmedi | 1 durumda |
| FAM20CFAM20C golgi associated secretory pathway kinase | Kaydedilmedi | 1 durumda |
| GBA1glucosylceramidase beta 1 | Kaydedilmedi | 1 durumda |
| GJA1gap junction protein alpha 1 | Kaydedilmedi | 1 durumda |
| IGF1Rinsulin like growth factor 1 receptor | Kaydedilmedi | 1 durumda |
| ITGA3integrin subunit alpha 3 | Kaydedilmedi | 1 durumda |
| MECP2methyl-CpG binding protein 2 | Kaydedilmedi | 1 durumda |
| NFIAnuclear factor I A | Kaydedilmedi | 1 durumda |
| OSGEPO-sialoglycoprotein endopeptidase | Kaydedilmedi | 1 durumda |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Kaydedilmedi | 1 durumda |
| POLD1DNA polymerase delta 1, catalytic subunit | Kaydedilmedi | 1 durumda |
| RLIMring finger protein, LIM domain interacting | Kaydedilmedi | 1 durumda |
| SKIC3SKI3 subunit of superkiller complex | Kaydedilmedi | 1 durumda |
| SLC25A24solute carrier family 25 member 24 | Kaydedilmedi | 1 durumda |
| SONSON DNA and RNA binding protein | Kaydedilmedi | 1 durumda |
| TBC1D20TBC1 domain family member 20 | Kaydedilmedi | 1 durumda |
| TLK2tousled like kinase 2 | Kaydedilmedi | 1 durumda |
| ZMIZ1zinc finger MIZ-type containing 1 | Kaydedilmedi | 1 durumda |
Bu özelliğin, genin ilişkili olduğu durumlardan birine sahip kişiler arasında ne sıklıkta görüldüğü; Human Phenotype Ontology'nin kaydettiği şekliyle, bunlar arasında en sık görülen oran. Bu sayfalar özellikleri ve bunların arkasındaki araştırmaları anlatır; tanı koymaz. Belirtiler hakkında bir doktora veya genetik danışmana başvurmanız gerekir.
Daha geniş özellikler
Bilgilerin kaynağı
- Human Phenotype Ontology, 2026-09-01 sürümü: özellik, adları, tanımı ve buna bağlı genler. Ayrıntılar için hpo.jax.org adresine bakın.
- Veri sürümü 2026.10.19-9814e911.
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