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Egenskap
Bifid uvula
Uvula separated into two parts most easily seen at the tip.
Sammanfattning
- Även kallad
- Bifid palatine uvula, Cleft of uvula, Cleft uvula, Forked uvula, Split uvula, Uvula bifida
- Kroppssystem
- Abnormality of head or neck
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Den här sidan som data
Lägg till .json i sidans adress, eller begär application/json, för att läsa den som JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/bifid-uvula.json"
page <- fromJSON(url)
page$trait$nameBifid uvulaHP:0000193
AtlasVem vi hjälperVår vetenskapProdukterResultat
Logga inFrågaSekvensera ditt genom↗
Läs generna kopplade till Bifid uvula, och resten av ditt genom, med ett enda test.
Från 449 $Fri frakt · Resultat inom 6–8 veckor
Beställ mitt Genome Test92 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.
- Loeys-Dietz SyndromeReads 6 of these genesTGFB2TGFBR1TGFBR2SMAD2SMAD3TGFB3About this report →
- Congenital Muscular DystrophiesReads 13 of these genesB3GALNT2B4GAT1CRPPADAG1FKRPFKTNAbout this report →
- Marfan Like SyndromesReads 7 of these genesTGFB2TGFBR1TGFBR2SMAD2SMAD3TGFB3About this report →
- Non-Acquired Combined Pituitary Hormone DeficiencyReads 10 of these genesCDONDISP1GLI2GLI3PLCH1PTCH1About this report →
Show 88 more reports
- Congenital Disorders of GlycosylationReads 18 of these genesPGM1ALG9CRPPADAG1FKRPFKTNAbout this report →
- Hereditary Orofacial CleftingReads 4 of these genesGRHL3IRF6BMP4TBX22About this report →
- GPI Anchor Biosynthesis DefectsReads 7 of these genesPGAP2PGAP3PIGLPIGOPIGVPIGWAbout this report →
- Kabuki SyndromeReads 2 of these genesKDM6AKMT2DAbout this report →
- Otospondylomegaepiphyseal Dysplasia (OSMED)Reads 2 of these genesCOL11A2COL2A1About this report →
- Intellectual DisabilityReads 18 of these genesKDM6BCTNNB1METTL23PGAP1CHD4DDX3XAbout this report →
- Branchio-Oto-Renal Spectrum DisorderReads 2 of these genesEYA1SIX1About this report →
- Van der Woude and Popliteal Pterygium Syndromes (IRF6)Reads 2 of these genesGRHL3IRF6About this report →
- Syndromic CraniosynostosisReads 5 of these genesFGFR2FGFR1FGFR3TWIST1RECQL4About this report →
- 22q11.2 Deletion SyndromeReads 1 of these genesTBX1About this report →
- Au-Kline SyndromeReads 1 of these genesHNRNPKAbout this report →
- Auriculocondylar Syndrome 2 (PLCB4)Reads 1 of these genesPLCB4About this report →
- Bailey-Bloch Congenital MyopathyReads 1 of these genesSTAC3About this report →
- Bent Bone Dysplasia Syndrome (FGFR2)Reads 1 of these genesFGFR2About this report →
- BMP4-Related Microphthalmia and AnophthalmiaReads 1 of these genesBMP4About this report →
- Burn-McKeown SyndromeReads 1 of these genesTXNL4AAbout this report →
- Catel-Manzke SyndromeReads 1 of these genesTGDSAbout this report →
- COL4A1-Related DisorderReads 1 of these genesCOL4A1About this report →
- CTNNB1 SyndromeReads 1 of these genesCTNNB1About this report →
- DesmosterolosisReads 1 of these genesDHCR24About this report →
- DLL1-Related Neurodevelopmental DisorderReads 1 of these genesDLL1About this report →
- Elsahy-Waters SyndromeReads 1 of these genesCDH11About 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 →
- Greig Cephalopolysyndactyly SyndromeReads 1 of these genesGLI3About this report →
- HAAO-Related Congenital NAD DeficiencyReads 1 of these genesHAAOAbout this report →
- IFT140-Related CiliopathyReads 1 of these genesIFT140About this report →
- KAT6B-Related DisordersReads 1 of these genesKAT6BAbout this report →
- KCNH1-Related DisorderReads 1 of these genesKCNH1About 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 →
- Mowat-Wilson SyndromeReads 1 of these genesZEB2About this report →
- RNU4ATAC Spectrum DisorderReads 1 of these genesRNU4ATACAbout this report →
- Scalp-Ear-Nipple SyndromeReads 1 of these genesKCTD1About this report →
- Smith-Lemli-Opitz SyndromeReads 1 of these genesDHCR7About this report →
- ZTTK SyndromeReads 1 of these genesSONAbout this report →
- Congenital MyopathiesReads 4 of these genesSPEGBIN1RYR1TTNAbout this report →
- Limb-Girdle Muscular DystrophyReads 5 of these genesDAG1FKRPFKTNPOMGNT1TTNAbout this report →
- Aortic AneurysmReads 3 of these genesTGFB2TGFBR1TGFBR2About this report →
- DOORS SyndromeReads 1 of these genesATP6V1B2About this report →
- Juvenile Polyposis SyndromeReads 1 of these genesSMAD4About 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 genesCOL2A1XYLT1About this report →
- Joubert Syndrome And Related DisordersReads 4 of these genesB9D2KIF7TCTN3ARMC9About this report →
- Meckel SyndromeReads 2 of these genesB9D2KIF14About this report →
- Congenital Anomalies of the Kidney and Urinary TractReads 2 of these genesEYA1SIX1About this report →
- Polycystic Kidney DiseaseReads 2 of these genesIFT140ALG9About this report →
- VitreoretinopathyReads 3 of these genesCOL11A1CTNNB1COL2A1About this report →
- Immuno-Osseous DysplasiasReads 1 of these genesRNU4ATACAbout this report →
- Monogenic Precocious PubertyReads 1 of these genesDLK1About this report →
- Rothmund-Thomson SyndromeReads 1 of these genesRECQL4About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 3 of these genesBCORSHHBMP4About this report →
- Hypogonadotropic HypogonadismReads 4 of these genesFGF8FGFR1SMCHD1SNRPNAbout this report →
- Myofibrillar MyopathiesReads 2 of these genesRYR1TTNAbout this report →
- Achondrogenesis panelReads 1 of these genesCOL2A1About this report →
- Familial Atrial FibrillationReads 1 of these genesGJA5About this report →
- Hereditary Hemorrhagic TelangiectasiaReads 1 of these genesSMAD4About this report →
- Autosomal Recessive Primary MicrocephalyReads 2 of these genesKIF14STILAbout this report →
- Periventricular Nodular HeterotopiaReads 1 of these genesFLNAAbout this report →
- Ehlers-Danlos SyndromeReads 2 of these genesSLC39A13B4GALT7About this report →
- Dilated CardiomyopathyReads 3 of these genesPGM1FKTNTTNAbout this report →
- Syndromic Complex Neurodevelopmental DisorderReads 2 of these genesPAN2RNU4-2About this report →
- Cornelia de Lange SyndromeReads 1 of these genesSMC1AAbout this report →
- Hereditary Visceral Myopathy, CIPO & MMIHSReads 1 of these genesFLNAAbout this report →
- Rare Monogenic Autoinflammatory DiseasesReads 2 of these genesPOLA1SKIC3About this report →
- Imprinting Disorders: Prader-Willi, Silver-Russell and Beckwith-WiedemannReads 1 of these genesSNRPNAbout this report →
- Hearing Loss and DeafnessReads 3 of these genesCOL11A1COL11A2SIX1About this report →
- Heterotaxy & Laterality DefectsReads 1 of these genesNODALAbout this report →
- Epilepsy (Full Panel)Reads 4 of these genesSMC1AATP6V1B2FLNAZEB2About this report →
- Coffin-Siris SyndromeReads 1 of these genesSMARCD1About this report →
- Type I InterferonopathiesReads 1 of these genesPOLA1About this report →
- Inherited Congenital Heart DefectsReads 1 of these genesFLNAAbout this report →
- Diamond-Blackfan AnemiaReads 1 of these genesRPL5About this report →
- OsteopetrosisReads 1 of these genesAMER1About this report →
- Monogenic Hypertension & Mineralocorticoid DisordersReads 1 of these genesCUL3About this report →
- Ectodermal DysplasiasReads 1 of these genesTP63About this report →
- Distal MyopathiesReads 1 of these genesTTNAbout this report →
- Retinitis PigmentosaReads 2 of these genesIFT140POMGNT1About this report →
- Noonan SyndromeReads 1 of these genesPPP1CBAbout this report →
- Female InfertilityReads 1 of these genesTP63About this report →
- Other Inborn Errors of ImmunityReads 2 of these genesSKIC3TBX1About this report →
- Lysosomal Storage DiseaseReads 1 of these genesHYAL1About this report →
- Hypertrophic CardiomyopathyReads 1 of these genesPPP1CBAbout this report →
- Hereditary Spastic ParaplegiaReads 1 of these genesSELENOIAbout this report →
- Inherited Neurodegenerative DisordersReads 2 of these genesSELENOITBCEAbout this report →
- Rare Hereditary Peripheral NeuropathiesReads 1 of these genesSEPTIN9About this report →
Läs generna kopplade till Bifid uvula, och resten av ditt genom, med ett enda test.
Från 449 $Fri frakt · Resultat inom 6–8 veckor
Beställ mitt Genome Test174 gener kopplade till Bifid uvula
Förändringar i dessa gener orsakar sällsynta tillstånd där Bifid uvula förekommer. De flesta med denna egenskap har inget av dessa tillstånd, och en gen på listan säger ingenting om någons eget genom.
| Gen | Hur ofta den förekommer | Tillstånd |
|---|---|---|
| AMMECR1AMMECR nuclear protein 1 | Alltid | I 1 tillstånd |
| AMOTL1angiomotin like 1 | Alltid | I 1 tillstånd |
| B9D2B9 domain containing 2 | Alltid | I 1 tillstånd |
| FGFR2fibroblast growth factor receptor 2 | Alltid | I 5 tillstånd |
| GRHL3grainyhead like transcription factor 3 | Alltid | I 3 tillstånd |
| HYAL1hyaluronidase 1 | Alltid | I 1 tillstånd |
| IFT140intraflagellar transport 140 | Alltid | I 1 tillstånd |
| INTS11integrator complex subunit 11 | Alltid | I 1 tillstånd |
| KDM2Blysine demethylase 2B | Alltid | I 1 tillstånd |
| KDM6Blysine demethylase 6B | Alltid | I 1 tillstånd |
| STAG2STAG2 cohesin complex component | Alltid | I 3 tillstånd |
| TGFB2transforming growth factor beta 2 | Alltid | I 2 tillstånd |
| UBBubiquitin B | Alltid | I 2 tillstånd |
| CDH11cadherin 11 | Mycket ofta (80–99 %) | I 2 tillstånd |
| DHCR2424-dehydrocholesterol reductase | Mycket ofta (80–99 %) | I 1 tillstånd |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Mycket ofta (80–99 %) | I 2 tillstånd |
| TGFBR1transforming growth factor beta receptor 1 | Mycket ofta (80–99 %) | I 2 tillstånd |
| TGFBR2transforming growth factor beta receptor 2 | Mycket ofta (80–99 %) | I 2 tillstånd |
| AMER1APC membrane recruitment protein 1 | Ofta (30–79 %) | I 2 tillstånd |
| BCORBCL6 corepressor | Ofta (30–79 %) | I 1 tillstånd |
| CDONcell adhesion associated, oncogene regulated | Ofta (30–79 %) | I 4 tillstånd |
| COL11A1collagen type XI alpha 1 chain | Ofta (30–79 %) | I 2 tillstånd |
| COL11A2collagen type XI alpha 2 chain | Ofta (30–79 %) | I 1 tillstånd |
| CRIPTOcripto, EGF-CFC family member | Ofta (30–79 %) | I 4 tillstånd |
| CTNNB1catenin beta 1 | Ofta (30–79 %) | I 1 tillstånd |
| CUL3cullin 3 | Ofta (30–79 %) | I 1 tillstånd |
| DDX59DEAD-box helicase 59 | Ofta (30–79 %) | I 2 tillstånd |
| DHCR77-dehydrocholesterol reductase | Ofta (30–79 %) | I 1 tillstånd |
| DISP1dispatched RND transporter family member 1 | Ofta (30–79 %) | I 4 tillstånd |
| DLL1delta like canonical Notch ligand 1 | Ofta (30–79 %) | I 4 tillstånd |
| EDN1endothelin 1 | Ofta (30–79 %) | I 2 tillstånd |
| FGF8fibroblast growth factor 8 | Ofta (30–79 %) | I 4 tillstånd |
| FGFR1fibroblast growth factor receptor 1 | Ofta (30–79 %) | I 2 tillstånd |
| FILIP1filamin A interacting protein 1 | Ofta (30–79 %) | I 1 tillstånd |
| FOXH1forkhead box H1 | Ofta (30–79 %) | I 4 tillstånd |
| FTOFTO alpha-ketoglutarate dependent dioxygenase | Ofta (30–79 %) | I 1 tillstånd |
| GAS1growth arrest specific 1 | Ofta (30–79 %) | I 4 tillstånd |
| GLI2GLI family zinc finger 2 | Ofta (30–79 %) | I 4 tillstånd |
| GLI3GLI family zinc finger 3 | Ofta (30–79 %) | I 1 tillstånd |
| GNAI3G protein subunit alpha i3 | Ofta (30–79 %) | I 1 tillstånd |
Visa 134 gener till
| Gen | Hur ofta den förekommer | Tillstånd |
|---|---|---|
| HAAO3-hydroxyanthranilate 3,4-dioxygenase | Ofta (30–79 %) | I 1 tillstånd |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Ofta (30–79 %) | I 3 tillstånd |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Ofta (30–79 %) | I 1 tillstånd |
| IGBP1immunoglobulin binding protein 1 | Ofta (30–79 %) | I 1 tillstånd |
| IPO8importin 8 | Ofta (30–79 %) | I 2 tillstånd |
| IRF6interferon regulatory factor 6 | Ofta (30–79 %) | I 3 tillstånd |
| ITGAVintegrin subunit alpha V | Ofta (30–79 %) | I 1 tillstånd |
| KAT6Blysine acetyltransferase 6B | Ofta (30–79 %) | I 1 tillstånd |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Ofta (30–79 %) | I 2 tillstånd |
| KDM6Alysine demethylase 6A | Ofta (30–79 %) | I 1 tillstånd |
| KIF14kinesin family member 14 | Ofta (30–79 %) | I 1 tillstånd |
| KIF7kinesin family member 7 | Ofta (30–79 %) | I 2 tillstånd |
| KMT2Dlysine methyltransferase 2D | Ofta (30–79 %) | I 2 tillstånd |
| METTL23methyltransferase 23, arginine | Ofta (30–79 %) | I 1 tillstånd |
| NODALnodal growth differentiation factor | Ofta (30–79 %) | I 4 tillstånd |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Ofta (30–79 %) | I 1 tillstånd |
| PGM1phosphoglucomutase 1 | Ofta (30–79 %) | I 1 tillstånd |
| PLCB4phospholipase C beta 4 | Ofta (30–79 %) | I 1 tillstånd |
| PLCH1phospholipase C eta 1 | Ofta (30–79 %) | I 1 tillstånd |
| PTCH1patched 1 | Ofta (30–79 %) | I 4 tillstånd |
| RNU4ATACRNA, U4atac small nuclear | Ofta (30–79 %) | I 1 tillstånd |
| RPS23ribosomal protein S23 | Ofta (30–79 %) | I 1 tillstånd |
| RPS28ribosomal protein S28 | Ofta (30–79 %) | I 1 tillstånd |
| SELENOIselenoprotein I | Ofta (30–79 %) | I 2 tillstånd |
| SHHsonic hedgehog signaling molecule | Ofta (30–79 %) | I 5 tillstånd |
| SIX3SIX homeobox 3 | Ofta (30–79 %) | I 5 tillstånd |
| SLC39A13solute carrier family 39 member 13 | Ofta (30–79 %) | I 1 tillstånd |
| SMAD2SMAD family member 2 | Ofta (30–79 %) | I 2 tillstånd |
| SMAD3SMAD family member 3 | Ofta (30–79 %) | I 3 tillstånd |
| SMC1Astructural maintenance of chromosomes 1A | Ofta (30–79 %) | I 1 tillstånd |
| SPEGstriated muscle enriched protein kinase | Ofta (30–79 %) | I 2 tillstånd |
| STILSTIL centriolar assembly protein | Ofta (30–79 %) | I 4 tillstånd |
| TCTN3tectonic family member 3 | Ofta (30–79 %) | I 1 tillstånd |
| TGFB3transforming growth factor beta 3 | Ofta (30–79 %) | I 2 tillstånd |
| TGIF1TGFB induced factor homeobox 1 | Ofta (30–79 %) | I 4 tillstånd |
| ZIC2Zic family zinc finger 2 | Ofta (30–79 %) | I 4 tillstånd |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Ibland (5–29 %) | I 1 tillstånd |
| ARMC9armadillo repeat containing 9 | Ibland (5–29 %) | I 1 tillstånd |
| ASPHaspartate beta-hydroxylase | Ibland (5–29 %) | I 1 tillstånd |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Ibland (5–29 %) | I 1 tillstånd |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Ibland (5–29 %) | I 1 tillstånd |
| B4GALT7beta-1,4-galactosyltransferase 7 | Ibland (5–29 %) | I 1 tillstånd |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Ibland (5–29 %) | I 1 tillstånd |
| BGNbiglycan | Ibland (5–29 %) | I 1 tillstånd |
| BIN1bridging integrator 1 | Ibland (5–29 %) | I 1 tillstånd |
| CDC45cell division cycle 45 | Ibland (5–29 %) | I 1 tillstånd |
| CDC6cell division cycle 6 | Ibland (5–29 %) | I 1 tillstånd |
| CDT1chromatin licensing and DNA replication factor 1 | Ibland (5–29 %) | I 1 tillstånd |
| CHD4chromodomain helicase DNA binding protein 4 | Ibland (5–29 %) | I 1 tillstånd |
| COL2A1collagen type II alpha 1 chain | Ibland (5–29 %) | I 2 tillstånd |
| COL4A1collagen type IV alpha 1 chain | Ibland (5–29 %) | I 1 tillstånd |
| CRPPACDP-L-ribitol pyrophosphorylase A | Ibland (5–29 %) | I 1 tillstånd |
| DAG1dystroglycan 1 | Ibland (5–29 %) | I 1 tillstånd |
| DDX3XDEAD-box helicase 3 X-linked | Ibland (5–29 %) | I 1 tillstånd |
| DLG3discs large MAGUK scaffold protein 3 | Ibland (5–29 %) | I 1 tillstånd |
| DLK1delta like non-canonical Notch ligand 1 | Ibland (5–29 %) | I 1 tillstånd |
| EIF4A3eukaryotic translation initiation factor 4A3 | Ibland (5–29 %) | I 2 tillstånd |
| FBXO11F-box protein 11 | Ibland (5–29 %) | I 1 tillstånd |
| FGFR3fibroblast growth factor receptor 3 | Ibland (5–29 %) | I 2 tillstånd |
| FKRPfukutin related protein | Ibland (5–29 %) | I 1 tillstånd |
| FKTNfukutin | Ibland (5–29 %) | I 1 tillstånd |
| FLNAfilamin A | Ibland (5–29 %) | I 1 tillstånd |
| FOXI3forkhead box I3 | Ibland (5–29 %) | I 1 tillstånd |
| GMNNgeminin DNA replication inhibitor | Ibland (5–29 %) | I 1 tillstånd |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Ibland (5–29 %) | I 1 tillstånd |
| KCNK9potassium two pore domain channel subfamily K member 9 | Ibland (5–29 %) | I 1 tillstånd |
| KCTD1potassium channel tetramerization domain containing 1 | Ibland (5–29 %) | I 1 tillstånd |
| KMT2Clysine methyltransferase 2C | Ibland (5–29 %) | I 1 tillstånd |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Ibland (5–29 %) | I 1 tillstånd |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Ibland (5–29 %) | I 2 tillstånd |
| MEG3maternally expressed 3 | Ibland (5–29 %) | I 1 tillstånd |
| MYL11myosin light chain 11 | Ibland (5–29 %) | I 1 tillstånd |
| ORC1origin recognition complex subunit 1 | Ibland (5–29 %) | I 1 tillstånd |
| ORC4origin recognition complex subunit 4 | Ibland (5–29 %) | I 1 tillstånd |
| ORC6origin recognition complex subunit 6 | Ibland (5–29 %) | I 1 tillstånd |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Ibland (5–29 %) | I 1 tillstånd |
| PGAP2post-GPI attachment to proteins 2 | Ibland (5–29 %) | I 1 tillstånd |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Ibland (5–29 %) | I 1 tillstånd |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Ibland (5–29 %) | I 1 tillstånd |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Ibland (5–29 %) | I 1 tillstånd |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Ibland (5–29 %) | I 1 tillstånd |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Ibland (5–29 %) | I 1 tillstånd |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Ibland (5–29 %) | I 1 tillstånd |
| POGZpogo transposable element derived with ZNF domain | Ibland (5–29 %) | I 1 tillstånd |
| POLA1DNA polymerase alpha 1, catalytic subunit | Ibland (5–29 %) | I 1 tillstånd |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Ibland (5–29 %) | I 1 tillstånd |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Ibland (5–29 %) | I 1 tillstånd |
| POMKprotein O-mannose kinase | Ibland (5–29 %) | I 1 tillstånd |
| POMT1protein O-mannosyltransferase 1 | Ibland (5–29 %) | I 1 tillstånd |
| POMT2protein O-mannosyltransferase 2 | Ibland (5–29 %) | I 1 tillstånd |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Ibland (5–29 %) | I 1 tillstånd |
| PTDSS1phosphatidylserine synthase 1 | Ibland (5–29 %) | I 1 tillstånd |
| RFX7regulatory factor X7 | Ibland (5–29 %) | I 1 tillstånd |
| RTL1retrotransposon Gag like 1 | Ibland (5–29 %) | I 1 tillstånd |
| RXYLT1ribitol xylosyltransferase 1 | Ibland (5–29 %) | I 1 tillstånd |
| RYR1ryanodine receptor 1 | Ibland (5–29 %) | I 1 tillstånd |
| SATB2SATB homeobox 2 | Ibland (5–29 %) | I 1 tillstånd |
| SEC23ASEC23 homolog A, COPII component | Ibland (5–29 %) | I 1 tillstånd |
| SEPHS1selenophosphate synthetase 1 | Ibland (5–29 %) | I 1 tillstånd |
| SEPTIN9septin 9 | Ibland (5–29 %) | I 1 tillstånd |
| SHMT2serine hydroxymethyltransferase 2 | Ibland (5–29 %) | I 1 tillstånd |
| SIAH1siah E3 ubiquitin protein ligase 1 | Ibland (5–29 %) | I 1 tillstånd |
| SMAD4SMAD family member 4 | Ibland (5–29 %) | I 1 tillstånd |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Ibland (5–29 %) | I 1 tillstånd |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Ibland (5–29 %) | I 1 tillstånd |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Ibland (5–29 %) | I 1 tillstånd |
| SONSON DNA and RNA binding protein | Ibland (5–29 %) | I 2 tillstånd |
| STAC3SH3 and cysteine rich domain 3 | Ibland (5–29 %) | I 1 tillstånd |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Ibland (5–29 %) | I 1 tillstånd |
| TGDSTDP-glucose 4,6-dehydratase | Ibland (5–29 %) | I 1 tillstånd |
| TP63tumor protein p63 | Ibland (5–29 %) | I 3 tillstånd |
| TTNtitin | Ibland (5–29 %) | I 1 tillstånd |
| TWIST1twist family bHLH transcription factor 1 | Ibland (5–29 %) | I 1 tillstånd |
| TXNL4Athioredoxin like 4A | Ibland (5–29 %) | I 1 tillstånd |
| USP9Xubiquitin specific peptidase 9 X-linked | Ibland (5–29 %) | I 1 tillstånd |
| FGF10fibroblast growth factor 10 | Sällan (1–4%) | I 1 tillstånd |
| GJA5gap junction protein alpha 5 | Sällan (1–4%) | I 1 tillstånd |
| GJA8gap junction protein alpha 8 | Sällan (1–4%) | I 1 tillstånd |
| MSL2MSL complex subunit 2 | Sällan (1–4%) | I 1 tillstånd |
| RNU4-2RNA, U4 small nuclear 2 | Sällan (1–4%) | I 1 tillstånd |
| SMPD4sphingomyelin phosphodiesterase 4 | Sällan (1–4%) | I 1 tillstånd |
| XYLT1xylosyltransferase 1 | Sällan (1–4%) | I 1 tillstånd |
| ZEB2zinc finger E-box binding homeobox 2 | Sällan (1–4%) | I 2 tillstånd |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Inte registrerat | I 1 tillstånd |
| BMP4bone morphogenetic protein 4 | Inte registrerat | I 1 tillstånd |
| EYA1EYA transcriptional coactivator and phosphatase 1 | Inte registrerat | I 1 tillstånd |
| RECQL4RecQ like helicase 4 | Inte registrerat | I 1 tillstånd |
| RPL5ribosomal protein L5 | Inte registrerat | I 1 tillstånd |
| SIX1SIX homeobox 1 | Inte registrerat | I 1 tillstånd |
| SKIC3SKI3 subunit of superkiller complex | Inte registrerat | I 1 tillstånd |
| SMSspermine synthase | Inte registrerat | I 1 tillstånd |
| TBCEtubulin folding cofactor E | Inte registrerat | I 1 tillstånd |
| TBX1T-box transcription factor 1 | Inte registrerat | I 1 tillstånd |
| TBX22T-box transcription factor 22 | Inte registrerat | I 1 tillstånd |
Hur ofta det förekommer hos personer med ett av genens tillstånd, den vanligaste frekvensen bland dem, enligt Human Phenotype Ontology. Dessa sidor beskriver egenskaper och forskningen bakom dem. De är inte en diagnos, och det är läkare eller genetisk rådgivare du bör fråga om symtom.
Bredare egenskaper
Varifrån informationen kommer
- Human Phenotype Ontology, version 2026-09-01: egenskapen, dess namn, definition och de gener som är kopplade till den. Läs mer på hpo.jax.org.
- Dataversion 2026.10.19-9814e911.
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