AtlasVem vi hjälperVår vetenskapProdukterResultat
Logga inFrågaSekvensera ditt genom↗
Egenskap
Corneal opacity
A reduction of corneal clarity.
Sammanfattning
- Även kallad
- Corneal clouding, Corneal opacities, Reduction of corneal clarity, Scarring or clouding of the cornea of the eye
- Kroppssystem
- Abnormality of the eye
AtlasVem vi hjälperVår vetenskapProdukterResultat
Logga inFrågaSekvensera ditt genom↗
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/corneal-opacity.json"
page <- fromJSON(url)
page$trait$nameCorneal opacityHP:0007957
AtlasVem vi hjälperVår vetenskapProdukterResultat
Logga inFrågaSekvensera ditt genom↗
Läs generna kopplade till Corneal opacity, och resten av ditt genom, med ett enda test.
Från 449 $Fri frakt · Resultat inom 6–8 veckor
Beställ mitt Genome Test94 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.
- Zellweger Spectrum & Peroxisome Biogenesis DisordersReads 13 of these genesPEX1PEX10PEX11BPEX12PEX13PEX14About this report →
- Congenital Muscular DystrophiesReads 13 of these genesFKRPFKTNLARGE1POMT1POMT2B3GALNT2About this report →
- Hereditary Corneal DystrophiesReads 8 of these genesTGFBICOL8A2MCOLN1SLC4A11TCF4ZEB1About this report →
- Lysosomal Storage DiseaseReads 14 of these genesARSBIDUACTSAGLAGUSBMCOLN1About this report →
Show 90 more reports
- GlaucomaReads 5 of these genesCYP1B1FOXC1LTBP2MYOCTEKAbout this report →
- Other Inherited LeukodystrophiesReads 15 of these genesPEX1PEX10PEX11BPEX12PEX13PEX14About this report →
- Hereditary Palmoplantar Keratodermas and Pachyonychia CongenitaReads 9 of these genesTATGJA1GJB3GJB4KDSRKRT14About this report →
- Alpha-Mannosidosis and Other GlycoproteinosesReads 4 of these genesCTSANEU1FUCA1MAN2B1About this report →
- Mosaic Variegated Aneuploidy SyndromeReads 3 of these genesBUB1BCEP57TRIP13About this report →
- Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome & AniridiaReads 4 of these genesPXDNFOXE3FOXC1PAX6About this report →
- Congenital Disorders of GlycosylationReads 13 of these genesB3GALT6FKRPFKTNPOMT1POMT2B3GLCTAbout this report →
- VitreoretinopathyReads 6 of these genesNDPATOH7COL11A1FZD4IKBKGLRP5About this report →
- Mucolipidoses (ML II, ML III and ML IV)Reads 2 of these genesMCOLN1GNPTABAbout this report →
- Rare Hereditary Peripheral NeuropathiesReads 16 of these genesPEX1PEX10PEX11BPEX12PEX13PEX14About this report →
- BMP4-Related Microphthalmia and AnophthalmiaReads 1 of these genesBMP4About this report →
- COL4A1-Related DisorderReads 1 of these genesCOL4A1About this report →
- Fabry DiseaseReads 1 of these genesGLAAbout this report →
- Focal Dermal Hypoplasia (Goltz Syndrome)Reads 1 of these genesPORCNAbout this report →
- Gaucher DiseaseReads 1 of these genesGBA1About this report →
- GM1 Gangliosidosis and Morquio B SyndromeReads 1 of these genesGLB1About this report →
- IFAP Syndrome (MBTPS2)Reads 1 of these genesMBTPS2About this report →
- Mucopolysaccharidosis Type I (Hurler and Scheie Syndromes)Reads 1 of these genesIDUAAbout this report →
- Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome)Reads 1 of these genesARSBAbout this report →
- Mucopolysaccharidosis Type VII (Sly Syndrome)Reads 1 of these genesGUSBAbout this report →
- NGLY1 DeficiencyReads 1 of these genesNGLY1About this report →
- P5CS Deficiency (ALDH18A1-Related)Reads 1 of these genesALDH18A1About this report →
- PIK3R1-Related DisordersReads 1 of these genesPIK3R1About this report →
- POLR3A-Related DisorderReads 1 of these genesPOLR3AAbout this report →
- Restrictive Dermopathy (ZMPSTE24)Reads 1 of these genesZMPSTE24About this report →
- Roberts SyndromeReads 1 of these genesESCO2About this report →
- Spondylometaphyseal Dysplasia With Cone-Rod DystrophyReads 1 of these genesPCYT1AAbout this report →
- X-linked Autoinflammatory DiseaseReads 1 of these genesIKBKGAbout this report →
- Inherited Neurodegenerative DisordersReads 19 of these genesALDH18A1PEX1PEX10PEX11BPEX12PEX13About this report →
- Limb-Girdle Muscular DystrophyReads 5 of these genesFKRPFKTNDAG1POMGNT1LMNAAbout this report →
- Microphthalmia, Anophthalmia & ColobomaReads 4 of these genesBMP4COX7BHCCSNDUFB11About this report →
- Hereditary HypolipoproteinemiasReads 2 of these genesLCATABCA1About this report →
- Cutis LaxaReads 3 of these genesALDH18A1ELNFBLN5About this report →
- Activated PI3K-Delta Syndrome (APDS)Reads 1 of these genesPIK3R1About this report →
- Dent Disease and Lowe SyndromeReads 1 of these genesOCRLAbout this report →
- FLNB-Related Skeletal Dysplasia (Larsen Spectrum)Reads 1 of these genesFLNBAbout this report →
- Hereditary FibromatosesReads 1 of these genesPDGFRBAbout this report →
- Epidermolysis BullosaReads 3 of these genesFERMT1KRT14KRT5About this report →
- Noonan SyndromeReads 3 of these genesKRASHRASNRASAbout this report →
- Hereditary Congenital & Juvenile CataractReads 3 of these genesCRYBA4CRYBB1MAFAbout this report →
- LipodystrophyReads 2 of these genesLMNAZMPSTE24About this report →
- Fraser SyndromeReads 1 of these genesFRAS1About this report →
- Immuno-Osseous DysplasiasReads 1 of these genesSMARCAL1About this report →
- MedulloblastomaReads 1 of these genesELP1About this report →
- TyrosinemiaReads 1 of these genesTATAbout this report →
- Van der Woude and Popliteal Pterygium Syndromes (IRF6)Reads 1 of these genesRIPK4About this report →
- Osteogenesis ImperfectaReads 3 of these genesLRP5POLR3AMBTPS2About this report →
- Hereditary Vascular MalformationsReads 1 of these genesTEKAbout this report →
- Polycystic Liver Disease (1 and 2)Reads 1 of these genesLRP5About this report →
- Ectodermal DysplasiasReads 2 of these genesIKBKGKRT14About this report →
- GPI Anchor Biosynthesis DefectsReads 2 of these genesPIGLPIGNAbout this report →
- Sclerosing Bone Dysplasias (High Bone Mass)Reads 1 of these genesLRP5About this report →
- Dilated CardiomyopathyReads 3 of these genesFKTNLMNAPPP1R13LAbout this report →
- Hypogonadotropic HypogonadismReads 3 of these genesFGFR1PLXND1REV3LAbout this report →
- Inherited IchthyosesReads 2 of these genesST14STSAbout this report →
- Chronic Granulomatous DiseaseReads 1 of these genesNCF1About this report →
- Hereditary Orofacial CleftingReads 1 of these genesBMP4About this report →
- Hypertrophic CardiomyopathyReads 3 of these genesKRASHRASNRASAbout this report →
- Autoimmune Lymphoproliferative Syndrome (ALPS)Reads 1 of these genesKRASAbout this report →
- Basal Ganglia CalcificationReads 1 of these genesPDGFRBAbout this report →
- Congenital Cranial Dysinnervation DisordersReads 1 of these genesMAFBAbout this report →
- Progressive Cardiac Conduction Disease & Sick Sinus SyndromeReads 1 of these genesLMNAAbout this report →
- Inherited ThrombocytopeniasReads 2 of these genesRBM8AKDSRAbout this report →
- Other Inborn Errors of ImmunityReads 5 of these genesIKBKGKRASNCF1PIK3R1SMARCAL1About this report →
- Kidney CancerReads 1 of these genesPAX6About this report →
- Agammaglobulinaemia (XLA and Autosomal Forms)Reads 1 of these genesPIK3R1About this report →
- Arrhythmogenic CardiomyopathyReads 1 of these genesPPP1R13LAbout this report →
- Urinary and Renal System TumourReads 1 of these genesPAX6About this report →
- Aortic AneurysmReads 1 of these genesFOXE3About this report →
- Inherited Congenital Heart DefectsReads 1 of these genesELNAbout this report →
- OsteopetrosisReads 1 of these genesLRP5About this report →
- Parkinson DiseaseReads 1 of these genesGBA1About this report →
- Primary Mitochondrial DiseaseReads 3 of these genesNDUFB11DNA2DNAJC30About this report →
- Primary Lymphoedema & Lymphatic MalformationsReads 1 of these genesKIF11About this report →
- Charcot-Marie-Tooth DiseaseReads 2 of these genesFBLN5LMNAAbout this report →
- Autoimmune DiseaseReads 1 of these genesKRASAbout this report →
- Ehlers-Danlos SyndromeReads 1 of these genesB3GALT6About this report →
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)Reads 1 of these genesELP1About this report →
- Syndromic Complex Neurodevelopmental DisorderReads 1 of these genesTBCKAbout this report →
- Syndromic CraniosynostosisReads 1 of these genesFGFR1About this report →
- Hearing Loss and DeafnessReads 2 of these genesCOL11A1GRHL2About this report →
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesReads 1 of these genesPOLR3AAbout this report →
- Intellectual DisabilityReads 3 of these genesTCF4PIGLDYRK1AAbout this report →
- Spinal Muscular AtrophyReads 1 of these genesASAH1About this report →
- Diabetes MellitusReads 1 of these genesPAX6About this report →
- Male InfertilityReads 1 of these genesFKBP6About this report →
- Female InfertilityReads 1 of these genesTRIP13About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 1 of these genesPEX6About this report →
- Hereditary Spastic ParaplegiaReads 1 of these genesALDH18A1About this report →
- Retinitis PigmentosaReads 1 of these genesPOMGNT1About this report →
Läs generna kopplade till Corneal opacity, och resten av ditt genom, med ett enda test.
Från 449 $Fri frakt · Resultat inom 6–8 veckor
Beställ mitt Genome Test166 gener kopplade till Corneal opacity
Förändringar i dessa gener orsakar sällsynta tillstånd där Corneal opacity 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 |
|---|---|---|
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Alltid | I 2 tillstånd |
| ARSBarylsulfatase B | Alltid | I 1 tillstånd |
| B3GALT6beta-1,3-galactosyltransferase 6 | Alltid | I 1 tillstånd |
| BUD13BUD13 spliceosome associated protein | Alltid | I 1 tillstånd |
| CHUKcomponent of inhibitor of nuclear factor kappa B kinase complex | Alltid | I 1 tillstånd |
| FKRPfukutin related protein | Alltid | I 3 tillstånd |
| FKTNfukutin | Alltid | I 2 tillstånd |
| HYAL2hyaluronidase 2 | Alltid | I 1 tillstånd |
| IDUAalpha-L-iduronidase | Alltid | I 6 tillstånd |
| KERAkeratocan | Alltid | I 1 tillstånd |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Alltid | I 2 tillstånd |
| NDPnorrin cystine knot growth factor NDP | Alltid | I 3 tillstånd |
| NGLY1N-glycanase 1 | Alltid | I 1 tillstånd |
| PLCB3phospholipase C beta 3 | Alltid | I 1 tillstånd |
| POMT1protein O-mannosyltransferase 1 | Alltid | I 2 tillstånd |
| POMT2protein O-mannosyltransferase 2 | Alltid | I 2 tillstånd |
| PXDNperoxidasin | Alltid | I 1 tillstånd |
| RBM8ARNA binding motif protein 8A | Alltid | I 1 tillstånd |
| TGFBItransforming growth factor beta induced | Alltid | I 2 tillstånd |
| AGBL1AGBL carboxypeptidase 1 | Mycket ofta (80–99 %) | I 1 tillstånd |
| ATOH7atonal bHLH transcription factor 7 | Mycket ofta (80–99 %) | I 2 tillstånd |
| B3GLCTbeta 3-glucosyltransferase | Mycket ofta (80–99 %) | I 1 tillstånd |
| BMP4bone morphogenetic protein 4 | Mycket ofta (80–99 %) | I 1 tillstånd |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Mycket ofta (80–99 %) | I 1 tillstånd |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Mycket ofta (80–99 %) | I 1 tillstånd |
| BUB3BUB3 mitotic checkpoint protein | Mycket ofta (80–99 %) | I 1 tillstånd |
| CEP57centrosomal protein 57 | Mycket ofta (80–99 %) | I 1 tillstånd |
| COL11A1collagen type XI alpha 1 chain | Mycket ofta (80–99 %) | I 1 tillstånd |
| COL8A2collagen type VIII alpha 2 chain | Mycket ofta (80–99 %) | I 3 tillstånd |
| COX7Bcytochrome c oxidase subunit 7B | Mycket ofta (80–99 %) | I 1 tillstånd |
| CTSAcathepsin A | Mycket ofta (80–99 %) | I 1 tillstånd |
| FOXE3forkhead box E3 | Mycket ofta (80–99 %) | I 2 tillstånd |
| FZD4frizzled class receptor 4 | Mycket ofta (80–99 %) | I 1 tillstånd |
| GLAgalactosidase alpha | Mycket ofta (80–99 %) | I 1 tillstånd |
| GUSBglucuronidase beta | Mycket ofta (80–99 %) | I 2 tillstånd |
| HCCSholocytochrome c synthase | Mycket ofta (80–99 %) | I 1 tillstånd |
| LCATlecithin-cholesterol acyltransferase | Mycket ofta (80–99 %) | I 1 tillstånd |
| MAB21L1mab-21 like 1 | Mycket ofta (80–99 %) | I 1 tillstånd |
| MCOLN1mucolipin TRP cation channel 1 | Mycket ofta (80–99 %) | I 2 tillstånd |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Mycket ofta (80–99 %) | I 1 tillstånd |
Visa 126 gener till
| Gen | Hur ofta den förekommer | Tillstånd |
|---|---|---|
| NEU1neuraminidase 1 | Mycket ofta (80–99 %) | I 3 tillstånd |
| PEX1peroxisomal biogenesis factor 1 | Mycket ofta (80–99 %) | I 1 tillstånd |
| PEX10peroxisomal biogenesis factor 10 | Mycket ofta (80–99 %) | I 1 tillstånd |
| PEX11Bperoxisomal biogenesis factor 11 beta | Mycket ofta (80–99 %) | I 1 tillstånd |
| PEX12peroxisomal biogenesis factor 12 | Mycket ofta (80–99 %) | I 1 tillstånd |
| PEX13peroxisomal biogenesis factor 13 | Mycket ofta (80–99 %) | I 1 tillstånd |
| PEX14peroxisomal biogenesis factor 14 | Mycket ofta (80–99 %) | I 1 tillstånd |
| PEX16peroxisomal biogenesis factor 16 | Mycket ofta (80–99 %) | I 1 tillstånd |
| PEX19peroxisomal biogenesis factor 19 | Mycket ofta (80–99 %) | I 1 tillstånd |
| PEX2peroxisomal biogenesis factor 2 | Mycket ofta (80–99 %) | I 1 tillstånd |
| PEX26peroxisomal biogenesis factor 26 | Mycket ofta (80–99 %) | I 1 tillstånd |
| PEX3peroxisomal biogenesis factor 3 | Mycket ofta (80–99 %) | I 1 tillstånd |
| PEX5peroxisomal biogenesis factor 5 | Mycket ofta (80–99 %) | I 1 tillstånd |
| PEX6peroxisomal biogenesis factor 6 | Mycket ofta (80–99 %) | I 1 tillstånd |
| SLC4A11solute carrier family 4 member 11 | Mycket ofta (80–99 %) | I 3 tillstånd |
| TATtyrosine aminotransferase | Mycket ofta (80–99 %) | I 1 tillstånd |
| TCF4transcription factor 4 | Mycket ofta (80–99 %) | I 2 tillstånd |
| TRIP13thyroid hormone receptor interactor 13 | Mycket ofta (80–99 %) | I 1 tillstånd |
| ZEB1zinc finger E-box binding homeobox 1 | Mycket ofta (80–99 %) | I 2 tillstånd |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Ofta (30–79 %) | I 1 tillstånd |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Ofta (30–79 %) | I 1 tillstånd |
| COL4A1collagen type IV alpha 1 chain | Ofta (30–79 %) | I 2 tillstånd |
| CRPPACDP-L-ribitol pyrophosphorylase A | Ofta (30–79 %) | I 1 tillstånd |
| CYP1B1cytochrome P450 family 1 subfamily B member 1 | Ofta (30–79 %) | I 2 tillstånd |
| DAG1dystroglycan 1 | Ofta (30–79 %) | I 1 tillstånd |
| DNA2DNA replication helicase/nuclease 2 | Ofta (30–79 %) | I 1 tillstånd |
| FGFR1fibroblast growth factor receptor 1 | Ofta (30–79 %) | I 1 tillstånd |
| FOXC1forkhead box C1 | Ofta (30–79 %) | I 1 tillstånd |
| FUCA1alpha-L-fucosidase 1 | Ofta (30–79 %) | I 1 tillstånd |
| GBA1glucosylceramidase beta 1 | Ofta (30–79 %) | I 2 tillstånd |
| GLB1galactosidase beta 1 | Ofta (30–79 %) | I 1 tillstånd |
| GON4Lgon-4 like | Ofta (30–79 %) | I 1 tillstånd |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Ofta (30–79 %) | I 1 tillstånd |
| KRASKRas proto-oncogene, GTPase | Ofta (30–79 %) | I 2 tillstånd |
| LRP5LDL receptor related protein 5 | Ofta (30–79 %) | I 1 tillstånd |
| LTBP2latent transforming growth factor beta binding protein 2 | Ofta (30–79 %) | I 2 tillstånd |
| MAFBMAF bZIP transcription factor B | Ofta (30–79 %) | I 1 tillstånd |
| MMP2matrix metallopeptidase 2 | Ofta (30–79 %) | I 1 tillstånd |
| MYOCmyocilin | Ofta (30–79 %) | I 1 tillstånd |
| NEUROG1neurogenin 1 | Ofta (30–79 %) | I 1 tillstånd |
| PAX6paired box 6 | Ofta (30–79 %) | I 2 tillstånd |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Ofta (30–79 %) | I 1 tillstånd |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Ofta (30–79 %) | I 1 tillstånd |
| PLXND1plexin D1 | Ofta (30–79 %) | I 1 tillstånd |
| POLR3ARNA polymerase III subunit A | Ofta (30–79 %) | I 1 tillstånd |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Ofta (30–79 %) | I 1 tillstånd |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Ofta (30–79 %) | I 1 tillstånd |
| POMKprotein O-mannose kinase | Ofta (30–79 %) | I 1 tillstånd |
| REV3LREV3 like, DNA directed polymerase zeta catalytic subunit | Ofta (30–79 %) | I 1 tillstånd |
| RIPK4receptor interacting serine/threonine kinase 4 | Ofta (30–79 %) | I 1 tillstånd |
| RXYLT1ribitol xylosyltransferase 1 | Ofta (30–79 %) | I 1 tillstånd |
| ST14ST14 transmembrane serine protease matriptase | Ofta (30–79 %) | I 1 tillstånd |
| STSsteroid sulfatase | Ofta (30–79 %) | I 1 tillstånd |
| SUMF1sulfatase modifying factor 1 | Ofta (30–79 %) | I 2 tillstånd |
| TEKTEK receptor tyrosine kinase | Ofta (30–79 %) | I 1 tillstånd |
| TRIM44TRIM family member 44 | Ofta (30–79 %) | I 1 tillstånd |
| TWIST2twist family bHLH transcription factor 2 | Ofta (30–79 %) | I 1 tillstånd |
| ABCA1ATP binding cassette subfamily A member 1 | Ibland (5–29 %) | I 1 tillstånd |
| ASAH1N-acylsphingosine amidohydrolase 1 | Ibland (5–29 %) | I 1 tillstånd |
| ATAD3AATPase family AAA domain containing 3A | Ibland (5–29 %) | I 2 tillstånd |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Ibland (5–29 %) | I 1 tillstånd |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Ibland (5–29 %) | I 1 tillstånd |
| CLIP2CAP-Gly domain containing linker protein 2 | Ibland (5–29 %) | I 1 tillstånd |
| COLEC10collectin subfamily member 10 | Ibland (5–29 %) | I 1 tillstånd |
| CRYAAcrystallin alpha A | Ibland (5–29 %) | I 1 tillstånd |
| CRYBA4crystallin beta A4 | Ibland (5–29 %) | I 1 tillstånd |
| CRYBB1crystallin beta B1 | Ibland (5–29 %) | I 1 tillstånd |
| CRYBB2crystallin beta B2 | Ibland (5–29 %) | I 1 tillstånd |
| CRYGCcrystallin gamma C | Ibland (5–29 %) | I 1 tillstånd |
| CRYGDcrystallin gamma D | Ibland (5–29 %) | I 1 tillstånd |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Ibland (5–29 %) | I 1 tillstånd |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Ibland (5–29 %) | I 1 tillstånd |
| EIF4Heukaryotic translation initiation factor 4H | Ibland (5–29 %) | I 1 tillstånd |
| ELNelastin | Ibland (5–29 %) | I 2 tillstånd |
| ELP1elongator acetyltransferase complex subunit 1 | Ibland (5–29 %) | I 1 tillstånd |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Ibland (5–29 %) | I 1 tillstånd |
| FBLN5fibulin 5 | Ibland (5–29 %) | I 1 tillstånd |
| FERMT1FERM domain containing kindlin 1 | Ibland (5–29 %) | I 1 tillstånd |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Ibland (5–29 %) | I 1 tillstånd |
| GJA1gap junction protein alpha 1 | Ibland (5–29 %) | I 1 tillstånd |
| GJA8gap junction protein alpha 8 | Ibland (5–29 %) | I 1 tillstånd |
| GJB3gap junction protein beta 3 | Ibland (5–29 %) | I 1 tillstånd |
| GJB4gap junction protein beta 4 | Ibland (5–29 %) | I 1 tillstånd |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Ibland (5–29 %) | I 1 tillstånd |
| GTF2Igeneral transcription factor IIi | Ibland (5–29 %) | I 1 tillstånd |
| GTF2IRD1GTF2I repeat domain containing 1 | Ibland (5–29 %) | I 1 tillstånd |
| GTF2IRD2GTF2I repeat domain containing 2 | Ibland (5–29 %) | I 1 tillstånd |
| HRASHRas proto-oncogene, GTPase | Ibland (5–29 %) | I 1 tillstånd |
| KDSR3-ketodihydrosphingosine reductase | Ibland (5–29 %) | I 1 tillstånd |
| KRT14keratin 14 | Ibland (5–29 %) | I 1 tillstånd |
| KRT5keratin 5 | Ibland (5–29 %) | I 1 tillstånd |
| LIMK1LIM domain kinase 1 | Ibland (5–29 %) | I 1 tillstånd |
| LMNAlamin A/C | Ibland (5–29 %) | I 1 tillstånd |
| MAFMAF bZIP transcription factor | Ibland (5–29 %) | I 2 tillstånd |
| MAN2B1mannosidase alpha class 2B member 1 | Ibland (5–29 %) | I 2 tillstånd |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Ibland (5–29 %) | I 1 tillstånd |
| METTL27methyltransferase like 27 | Ibland (5–29 %) | I 1 tillstånd |
| NCF1neutrophil cytosolic factor 1 | Ibland (5–29 %) | I 1 tillstånd |
| NRASNRAS proto-oncogene, GTPase | Ibland (5–29 %) | I 1 tillstånd |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Ibland (5–29 %) | I 1 tillstånd |
| OTUD5OTU deubiquitinase 5 | Ibland (5–29 %) | I 1 tillstånd |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Ibland (5–29 %) | I 2 tillstånd |
| PDGFRBplatelet derived growth factor receptor beta | Ibland (5–29 %) | I 1 tillstånd |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Ibland (5–29 %) | I 1 tillstånd |
| PORCNporcupine O-acyltransferase | Ibland (5–29 %) | I 1 tillstånd |
| PPP1R13Lprotein phosphatase 1 regulatory subunit 13 like | Ibland (5–29 %) | I 1 tillstånd |
| RFC2replication factor C subunit 2 | Ibland (5–29 %) | I 1 tillstånd |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Ibland (5–29 %) | I 1 tillstånd |
| STX1Asyntaxin 1A | Ibland (5–29 %) | I 1 tillstånd |
| TBCEtubulin folding cofactor E | Ibland (5–29 %) | I 1 tillstånd |
| TBCKTBC1 domain containing kinase | Ibland (5–29 %) | I 2 tillstånd |
| TBL2transducin beta like 2 | Ibland (5–29 %) | I 1 tillstånd |
| TMEM270transmembrane protein 270 | Ibland (5–29 %) | I 1 tillstånd |
| TRPV3transient receptor potential cation channel subfamily V member 3 | Ibland (5–29 %) | I 1 tillstånd |
| VPS37DVPS37D subunit of ESCRT-I | Ibland (5–29 %) | I 1 tillstånd |
| YAP1Yes1 associated transcriptional regulator | Ibland (5–29 %) | I 1 tillstånd |
| ZMPSTE24zinc metallopeptidase STE24 | Ibland (5–29 %) | I 1 tillstånd |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Sällan (1–4%) | I 1 tillstånd |
| GRHL2grainyhead like transcription factor 2 | Sällan (1–4%) | I 1 tillstånd |
| MT-CYBmitochondrially encoded cytochrome b | Sällan (1–4%) | I 1 tillstånd |
| OVOL2ovo like zinc finger 2 | Sällan (1–4%) | I 2 tillstånd |
| VSX1visual system homeobox 1 | Sällan (1–4%) | I 1 tillstånd |
| DYMdymeclin | Inte registrerat | I 1 tillstånd |
| FLNBfilamin B | Inte registrerat | I 1 tillstånd |
| FRAS1Fraser extracellular matrix complex subunit 1 | Inte registrerat | I 1 tillstånd |
| KIF11kinesin family member 11 | 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.
Mer specifika egenskaper
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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