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Özellik
Blue outer white part of eyeball
Klinik adı: Blue sclerae
An abnormal bluish coloration of the sclera.
Özet
- Diğer adları
- Whites of eyes are a bluish-gray color, Blue sclera, Bluish sclerae, Gray sclerae, Grey sclerae, Whites of eyes are a bluish-gray colour
- Vücut sistemi
- Abnormality of the eye
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/blue-sclerae.json"
page <- fromJSON(url)
page$trait$nameBlue outer white part of eyeballHP:0000592
AtlasKimlere Yardımcı OluyoruzBilimimizÜrünlerSonuçlar
Giriş YapSorGenomunuzu dizileyin↗
Blue outer white part of eyeball ile bağlantılı genleri ve genomunuzun geri kalanını tek bir testle okuyun.
$449'den başlayanÜcretsiz kargo · Sonuçlar 6–8 hafta içinde
Genome Test'imi al66 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.
- Osteogenesis ImperfectaReads 21 of these genesATP6V0A2COL1A1COL1A2CREB3L1CRTAPFKBP10About this report →
- Ehlers-Danlos SyndromeReads 15 of these genesADAMTS2CHST14COL1A1COL1A2DSEPLOD1About this report →
- Loeys-Dietz SyndromeReads 6 of these genesTGFB3SMAD2SMAD3TGFB2TGFBR1TGFBR2About this report →
- Marfan Like SyndromesReads 7 of these genesTGFB3FBN1SMAD2SMAD3TGFB2TGFBR1About this report →
Show 62 more reports
- Kabuki SyndromeReads 2 of these genesKDM6AKMT2DAbout this report →
- Hereditary Arterial CalcificationReads 2 of these genesABCC6ENPP1About this report →
- Aortic AneurysmReads 4 of these genesFBN1TGFB2TGFBR1TGFBR2About this report →
- Caffey DiseaseReads 1 of these genesCOL1A1About this report →
- Desbuquois Dysplasia 1Reads 1 of these genesCANT1About this report →
- Dias-Logan SyndromeReads 1 of these genesBCL11AAbout this report →
- Ferguson-Smith Disease (Multiple Self-Healing Squamous Epithelioma)Reads 1 of these genesTGFBR1About this report →
- HypophosphatasiaReads 1 of these genesALPLAbout this report →
- IFAP Syndrome (MBTPS2)Reads 1 of these genesMBTPS2About this report →
- KDM1A-Related Neurodevelopmental DisorderReads 1 of these genesKDM1AAbout this report →
- Marshall-Smith SyndromeReads 1 of these genesNFIXAbout this report →
- MED27-Related Neurodevelopmental DisorderReads 1 of these genesMED27About this report →
- OpsismodysplasiaReads 1 of these genesINPPL1About this report →
- Otofaciocervical Syndrome Type 2 (PAX1)Reads 1 of these genesPAX1About this report →
- POLR3A-Related DisorderReads 1 of these genesPOLR3AAbout this report →
- PPP1R21-Related Neurodevelopmental DisorderReads 1 of these genesPPP1R21About this report →
- Roberts SyndromeReads 1 of these genesESCO2About this report →
- Saul-Wilson SyndromeReads 1 of these genesCOG4About this report →
- Spondyloepiphyseal Dysplasia With Congenital Joint DislocationsReads 1 of these genesCHST3About this report →
- Wiedemann-Steiner SyndromeReads 1 of these genesKMT2AAbout this report →
- You-Hoover-Fong Syndrome (TELO2)Reads 1 of these genesTELO2About this report →
- ZTTK SyndromeReads 1 of these genesSONAbout this report →
- Hereditary Methaemoglobinaemia and Unstable HaemoglobinsReads 2 of these genesCYB5ACYB5R3About this report →
- Congenital Disorders of GlycosylationReads 8 of these genesATP6V0A2CHST14DSEB3GAT3B3GALT6COG4About this report →
- OsteopetrosisReads 3 of these genesCTSKCA2LRP5About this report →
- Cutis LaxaReads 3 of these genesATP6V0A2PYCR1EMILIN1About this report →
- Encephalopathy due to Mitochondrial and Peroxisomal Fission DefectReads 1 of these genesDNM1LAbout this report →
- Enlarged Parietal Foramina (MSX2)Reads 1 of these genesMSX2About this report →
- Pseudoxanthoma ElasticumReads 1 of these genesABCC6About this report →
- Epiphyseal and Spondyloepiphyseal DysplasiasReads 2 of these genesSLC26A2XYLT1About this report →
- Hirschsprung Disease & Related Enteric NeurocristopathiesReads 1 of these genesKIFBPAbout this report →
- Immuno-Osseous DysplasiasReads 1 of these genesRMRPAbout this report →
- Monogenic Early-Onset OsteoporosisReads 1 of these genesWNT1About this report →
- Achondrogenesis panelReads 1 of these genesSLC26A2About this report →
- Overgrowth Syndromes (Sotos, Weaver, Tatton-Brown-Rahman, Malan)Reads 1 of these genesNFIXAbout this report →
- Polycystic Liver Disease (1 and 2)Reads 1 of these genesLRP5About this report →
- PorokeratosisReads 1 of these genesMVKAbout this report →
- Sclerosing Bone Dysplasias (High Bone Mass)Reads 1 of these genesLRP5About this report →
- Syndromic CraniosynostosisReads 2 of these genesMEGF8MSX2About this report →
- Growth Hormone Insensitivity & IGF-1 Axis DisordersReads 1 of these genesGHRAbout this report →
- Hereditary Periodic Fever SyndromesReads 1 of these genesMVKAbout this report →
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesReads 2 of these genesTMEM163POLR3AAbout this report →
- Hereditary Rickets (Hypophosphatemic and Vitamin D-Dependent)Reads 1 of these genesENPP1About this report →
- Imprinting Disorders: Prader-Willi, Silver-Russell and Beckwith-WiedemannReads 1 of these genesIGF2About this report →
- Hereditary Optic NeuropathyReads 1 of these genesDNM1LAbout this report →
- Inherited Neurodegenerative DisordersReads 5 of these genesDNM1LWWOXEMILIN1TMEM163POLR3AAbout this report →
- Other Inherited LeukodystrophiesReads 2 of these genesTMEM163POLR3AAbout this report →
- Syndromic Complex Neurodevelopmental DisorderReads 1 of these genesRNU4-2About this report →
- VitreoretinopathyReads 1 of these genesLRP5About this report →
- Spinal Muscular AtrophyReads 1 of these genesEMILIN1About this report →
- Congenital Muscular DystrophiesReads 1 of these genesCOL12A1About this report →
- Primary Mitochondrial DiseaseReads 2 of these genesTRMT5POLRMTAbout this report →
- Hereditary Palmoplantar Keratodermas and Pachyonychia CongenitaReads 1 of these genesMBTPS2About this report →
- Dilated CardiomyopathyReads 1 of these genesPGM1About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 1 of these genesWWOXAbout this report →
- Intellectual DisabilityReads 2 of these genesPRMT7CTCFAbout this report →
- Lysosomal Storage DiseaseReads 1 of these genesCTSKAbout this report →
- Hypertrophic CardiomyopathyReads 1 of these genesIGF2About this report →
- Charcot-Marie-Tooth DiseaseReads 1 of these genesEMILIN1About this report →
- Epilepsy (Full Panel)Reads 1 of these genesWWOXAbout this report →
- Other Inborn Errors of ImmunityReads 1 of these genesRMRPAbout this report →
- Rare Hereditary Peripheral NeuropathiesReads 1 of these genesEMILIN1About this report →
Blue outer white part of eyeball ile bağlantılı genleri ve genomunuzun geri kalanını tek bir testle okuyun.
$449'den başlayanÜcretsiz kargo · Sonuçlar 6–8 hafta içinde
Genome Test'imi alBlue outer white part of eyeball ile ilişkili 111 gen
Bu genlerdeki değişiklikler, Blue outer white part of eyeball 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 |
|---|---|---|
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Her zaman | 2 durumda |
| AMOTL1angiomotin like 1 | Her zaman | 1 durumda |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Her zaman | 1 durumda |
| CHST14carbohydrate sulfotransferase 14 | Her zaman | 2 durumda |
| COL1A1collagen type I alpha 1 chain | Her zaman | 6 durumda |
| COL1A2collagen type I alpha 2 chain | Her zaman | 5 durumda |
| CREB3L1cAMP responsive element binding protein 3 like 1 | Her zaman | 1 durumda |
| CRTAPcartilage associated protein | Her zaman | 2 durumda |
| DNM1Ldynamin 1L | Her zaman | 1 durumda |
| DSEdermatan sulfate epimerase | Her zaman | 2 durumda |
| EXOSC1exosome component 1 | Her zaman | 1 durumda |
| FKBP10FKBP prolyl isomerase 10 | Her zaman | 1 durumda |
| GNB2G protein subunit beta 2 | Her zaman | 1 durumda |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Her zaman | 2 durumda |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Her zaman | 2 durumda |
| PPIBpeptidylprolyl isomerase B | Her zaman | 1 durumda |
| PRDM5PR/SET domain 5 | Her zaman | 2 durumda |
| PUS3pseudouridine synthase 3 | Her zaman | 2 durumda |
| PYCR1pyrroline-5-carboxylate reductase 1 | Her zaman | 2 durumda |
| RBSNrabenosyn, RAB effector | Her zaman | 1 durumda |
| SERPINF1serpin family F member 1 | Her zaman | 1 durumda |
| SERPINH1serpin family H member 1 | Her zaman | 1 durumda |
| TENT5Aterminal nucleotidyltransferase 5A | Her zaman | 1 durumda |
| TGFB3transforming growth factor beta 3 | Her zaman | 2 durumda |
| WWOXWW domain containing oxidoreductase | Her zaman | 1 durumda |
| ADAMTSL2ADAMTS like 2 | Çok sık (%80–99) | 1 durumda |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Çok sık (%80–99) | 1 durumda |
| CHST3carbohydrate sulfotransferase 3 | Çok sık (%80–99) | 1 durumda |
| NFIXnuclear factor I X | Çok sık (%80–99) | 2 durumda |
| P4HBprolyl 4-hydroxylase subunit beta | Çok sık (%80–99) | 1 durumda |
| PHLDB1pleckstrin homology like domain family B member 1 | Çok sık (%80–99) | 1 durumda |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Çok sık (%80–99) | 1 durumda |
| SEC24DSEC24 homolog D, COPII component | Çok sık (%80–99) | 2 durumda |
| SLC39A13solute carrier family 39 member 13 | Çok sık (%80–99) | 2 durumda |
| ZNF469zinc finger protein 469 | Çok sık (%80–99) | 2 durumda |
| B3GALT6beta-1,3-galactosyltransferase 6 | Sık (%30–79) | 3 durumda |
| B4GALT7beta-1,4-galactosyltransferase 7 | Sık (%30–79) | 1 durumda |
| BCL11ABCL11 transcription factor A | Sık (%30–79) | 1 durumda |
| BMP1bone morphogenetic protein 1 | Sık (%30–79) | 1 durumda |
| CANT1calcium activated nucleotidase 1 | Sık (%30–79) | 1 durumda |
71 gen daha göster
| Gen | Ne sıklıkla görüldüğü | Durumlar |
|---|---|---|
| COG4component of oligomeric golgi complex 4 | Sık (%30–79) | 1 durumda |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Sık (%30–79) | 1 durumda |
| CTSKcathepsin K | Sık (%30–79) | 1 durumda |
| DVL1dishevelled segment polarity protein 1 | Sık (%30–79) | 2 durumda |
| DVL3dishevelled segment polarity protein 3 | Sık (%30–79) | 2 durumda |
| EMILIN1elastin microfibril interfacer 1 | Sık (%30–79) | 1 durumda |
| FBN1fibrillin 1 | Sık (%30–79) | 1 durumda |
| IPO8importin 8 | Sık (%30–79) | 2 durumda |
| KDM1Alysine demethylase 1A | Sık (%30–79) | 2 durumda |
| KDM6Alysine demethylase 6A | Sık (%30–79) | 3 durumda |
| KMT2Alysine methyltransferase 2A | Sık (%30–79) | 1 durumda |
| KMT2Dlysine methyltransferase 2D | Sık (%30–79) | 2 durumda |
| MESDmesoderm development LRP chaperone | Sık (%30–79) | 1 durumda |
| MVKmevalonate kinase | Sık (%30–79) | 2 durumda |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Sık (%30–79) | 1 durumda |
| PRKG2protein kinase cGMP-dependent 2 | Sık (%30–79) | 1 durumda |
| RPS23ribosomal protein S23 | Sık (%30–79) | 1 durumda |
| RYR3ryanodine receptor 3 | Sık (%30–79) | 1 durumda |
| SLC26A2solute carrier family 26 member 2 | Sık (%30–79) | 1 durumda |
| SMAD2SMAD family member 2 | Sık (%30–79) | 1 durumda |
| SMAD3SMAD family member 3 | Sık (%30–79) | 2 durumda |
| TGFB2transforming growth factor beta 2 | Sık (%30–79) | 1 durumda |
| TGFBR1transforming growth factor beta receptor 1 | Sık (%30–79) | 2 durumda |
| TGFBR2transforming growth factor beta receptor 2 | Sık (%30–79) | 2 durumda |
| TMEM38Btransmembrane protein 38B | Sık (%30–79) | 1 durumda |
| TRMT5tRNA methyltransferase 5 | Sık (%30–79) | 1 durumda |
| WASF1WASP family member 1 | Sık (%30–79) | 1 durumda |
| WNT1Wnt family member 1 | Sık (%30–79) | 1 durumda |
| XYLT1xylosyltransferase 1 | Sık (%30–79) | 2 durumda |
| ABCC6ATP binding cassette subfamily C member 6 | Bazen (%5–29) | 2 durumda |
| CA2carbonic anhydrase 2 | Bazen (%5–29) | 1 durumda |
| CHSY1chondroitin sulfate synthase 1 | Bazen (%5–29) | 2 durumda |
| COL12A1collagen type XII alpha 1 chain | Bazen (%5–29) | 1 durumda |
| COL5A1collagen type V alpha 1 chain | Bazen (%5–29) | 2 durumda |
| CYB5Acytochrome b5 type A | Bazen (%5–29) | 1 durumda |
| CYB5R3cytochrome b5 reductase 3 | Bazen (%5–29) | 1 durumda |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Bazen (%5–29) | 1 durumda |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Bazen (%5–29) | 2 durumda |
| FKBP14FKBP prolyl isomerase 14 | Bazen (%5–29) | 1 durumda |
| FZD2frizzled class receptor 2 | Bazen (%5–29) | 1 durumda |
| GDF11growth differentiation factor 11 | Bazen (%5–29) | 1 durumda |
| GHRgrowth hormone receptor | Bazen (%5–29) | 2 durumda |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Bazen (%5–29) | 1 durumda |
| IFITM5interferon induced transmembrane protein 5 | Bazen (%5–29) | 1 durumda |
| INPPL1inositol polyphosphate phosphatase like 1 | Bazen (%5–29) | 1 durumda |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Bazen (%5–29) | 1 durumda |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Bazen (%5–29) | 1 durumda |
| MED27mediator complex subunit 27 | Bazen (%5–29) | 1 durumda |
| MEGF8multiple EGF like domains 8 | Bazen (%5–29) | 1 durumda |
| MSX2msh homeobox 2 | Bazen (%5–29) | 1 durumda |
| NXNnucleoredoxin | Bazen (%5–29) | 1 durumda |
| PAX1paired box 1 | Bazen (%5–29) | 1 durumda |
| PGM1phosphoglucomutase 1 | Bazen (%5–29) | 1 durumda |
| POLRMTRNA polymerase mitochondrial | Bazen (%5–29) | 1 durumda |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Bazen (%5–29) | 2 durumda |
| PRMT7protein arginine methyltransferase 7 | Bazen (%5–29) | 1 durumda |
| RNU4-2RNA, U4 small nuclear 2 | Bazen (%5–29) | 1 durumda |
| ROR2ROR family WNT receptor 2 | Bazen (%5–29) | 1 durumda |
| SONSON DNA and RNA binding protein | Bazen (%5–29) | 1 durumda |
| TELO2telomere maintenance 2 | Bazen (%5–29) | 1 durumda |
| TMEM163transmembrane protein 163 | Bazen (%5–29) | 1 durumda |
| TRMT10AtRNA methyltransferase 10A | Bazen (%5–29) | 1 durumda |
| UNC45Aunc-45 myosin chaperone A | Bazen (%5–29) | 1 durumda |
| WNT5AWnt family member 5A | Bazen (%5–29) | 1 durumda |
| CTCFCCCTC-binding factor | Seyrek (%1–4) | 1 durumda |
| LRP5LDL receptor related protein 5 | Seyrek (%1–4) | 1 durumda |
| POLR3ARNA polymerase III subunit A | Seyrek (%1–4) | 2 durumda |
| ALPLalkaline phosphatase, biomineralization associated | Kaydedilmedi | 1 durumda |
| C1Rcomplement C1r | Kaydedilmedi | 1 durumda |
| IGF2insulin like growth factor 2 | Kaydedilmedi | 1 durumda |
| KIFBPkinesin family binding protein | 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.
AtlasKimlere Yardımcı OluyoruzBilimimizÜrünlerSonuçlar
Giriş YapSorGenomunuzu dizileyin↗
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