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Özellik
Ankle flexion contracture
Özet
AtlasKimlere Yardımcı OluyoruzBilimimizÜrünlerSonuçlar
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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/ankle-flexion-contracture.json"
page <- fromJSON(url)
page$trait$nameAnkle flexion contractureHP:0006466
AtlasKimlere Yardımcı OluyoruzBilimimizÜrünlerSonuçlar
Giriş YapSorGenomunuzu dizileyin↗
Ankle flexion contracture ile bağlantılı genleri ve genomunuzun geri kalanını tek bir testle okuyun.
$449'den başlayanÜcretsiz kargo · Sonuçlar 6–8 hafta içinde
Genome Test'imi al45 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.
- Congenital MyopathiesReads 7 of these genesNEBRYR1ACTA1MAP3K20SELENONTPM2About this report →
- Limb-Girdle Muscular DystrophyReads 8 of these genesDAG1SGCACAPN3COL6A1COL6A2COL6A3About this report →
- Congenital Muscular DystrophiesReads 7 of these genesDAG1COL12A1COL6A1COL6A2COL6A3ITGA7About this report →
- Roberts SyndromeReads 1 of these genesESCO2About this report →
Show 41 more reports
- RTTN-Related Microcephalic Primordial DwarfismReads 1 of these genesRTTNAbout this report →
- Spondylo-Meta-Epiphyseal Dysplasia, Short Limb-Abnormal Calcification TypeReads 1 of these genesDDR2About this report →
- SPTBN4-Related Neurodevelopmental DisorderReads 1 of these genesSPTBN4About this report →
- TOR1AIP1-Related Multisystem DisorderReads 1 of these genesTOR1AIP1About this report →
- TOR1AIP1-Related MyopathyReads 1 of these genesTOR1AIP1About this report →
- VARS1-Related Neurodevelopmental DisorderReads 1 of these genesVARS1About this report →
- Disorders of Glycine & Serine MetabolismReads 2 of these genesSLC1A4PSAT1About this report →
- Malignant Hyperthermia SusceptibilityReads 1 of these genesRYR1About this report →
- Tubular Aggregate MyopathyReads 1 of these genesORAI1About this report →
- Myofibrillar MyopathiesReads 2 of these genesRYR1SVILAbout this report →
- Overgrowth Syndromes (Sotos, Weaver, Tatton-Brown-Rahman, Malan)Reads 1 of these genesNSD1About this report →
- Periventricular Nodular HeterotopiaReads 1 of these genesFLNAAbout this report →
- Lissencephaly Spectrum DisordersReads 2 of these genesPSAT1APC2About this report →
- Hereditary Visceral Myopathy, CIPO & MMIHSReads 1 of these genesFLNAAbout this report →
- Congenital Cranial Dysinnervation DisordersReads 1 of these genesCOL25A1About this report →
- Amyotrophic Lateral Sclerosis (ALS)Reads 2 of these genesSPG11FIG4About this report →
- Hereditary Spastic ParaplegiaReads 3 of these genesERLIN2NT5C2SPG11About this report →
- Hepatic Porphyria DisordersReads 1 of these genesALADAbout this report →
- Osteogenesis ImperfectaReads 2 of these genesFKBP10ANO5About this report →
- Imprinting Disorders: Prader-Willi, Silver-Russell and Beckwith-WiedemannReads 1 of these genesNSD1About this report →
- PorphyriaReads 1 of these genesALADAbout this report →
- Neurodegeneration with Brain Iron Accumulation (NBIA)Reads 1 of these genesC19orf12About this report →
- Inherited Neurodegenerative DisordersReads 6 of these genesERLIN2NT5C2SPG11UBA1C19orf12FIG4About this report →
- Congenital Disorders of GlycosylationReads 3 of these genesDAG1COG8DPM1About this report →
- Inherited Congenital Heart DefectsReads 1 of these genesFLNAAbout this report →
- Complex Cortical Dysplasia and Frontoparietal PolymicrogyriaReads 1 of these genesAPC2About this report →
- Hypertrophic CardiomyopathyReads 2 of these genesMYL2NSD1About this report →
- Distal MyopathiesReads 1 of these genesANO5About this report →
- Charcot-Marie-Tooth DiseaseReads 2 of these genesSPG11FIG4About this report →
- Ehlers-Danlos SyndromeReads 1 of these genesCOL12A1About this report →
- Rare Hereditary Peripheral NeuropathiesReads 3 of these genesSPG11PNPT1FIG4About this report →
- Congenital Myasthenic SyndromeReads 1 of these genesSYT2About this report →
- Spinal Muscular AtrophyReads 1 of these genesUBA1About this report →
- Primary Mitochondrial DiseaseReads 2 of these genesATP5F1DPNPT1About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 1 of these genesCOL6A3About this report →
- Dilated CardiomyopathyReads 1 of these genesSGCAAbout this report →
- Intellectual DisabilityReads 2 of these genesRPL10DYRK1AAbout this report →
- Leigh SyndromeReads 1 of these genesPNPT1About this report →
- Hearing Loss and DeafnessReads 1 of these genesPNPT1About this report →
- Epilepsy (Full Panel)Reads 1 of these genesFLNAAbout this report →
- Other Inborn Errors of ImmunityReads 1 of these genesORAI1About this report →
Ankle flexion contracture ile bağlantılı genleri ve genomunuzun geri kalanını tek bir testle okuyun.
$449'den başlayanÜcretsiz kargo · Sonuçlar 6–8 hafta içinde
Genome Test'imi alAnkle flexion contracture ile ilişkili 57 gen
Bu genlerdeki değişiklikler, Ankle flexion contracture 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 |
|---|---|---|
| C18orf32chromosome 18 open reading frame 32 | Her zaman | 1 durumda |
| DAG1dystroglycan 1 | Her zaman | 2 durumda |
| FKBP10FKBP prolyl isomerase 10 | Her zaman | 1 durumda |
| KLC4kinesin light chain 4 | Her zaman | 1 durumda |
| LGI4leucine rich repeat LGI family member 4 | Her zaman | 1 durumda |
| NFATC2nuclear factor of activated T cells 2 | Her zaman | 1 durumda |
| ORAI1ORAI calcium release-activated calcium modulator 1 | Her zaman | 1 durumda |
| SGCAsarcoglycan alpha | Her zaman | 1 durumda |
| ADAMTS15ADAM metallopeptidase with thrombospondin type 1 motif 15 | Çok sık (%80–99) | 1 durumda |
| ERLIN2ER lipid raft associated 2 | Çok sık (%80–99) | 2 durumda |
| KLHL9kelch like family member 9 | Çok sık (%80–99) | 1 durumda |
| NT5C25'-nucleotidase, cytosolic II | Çok sık (%80–99) | 1 durumda |
| ATP5F1DATP synthase F1 subunit delta | Sık (%30–79) | 1 durumda |
| CAPN3calpain 3 | Sık (%30–79) | 1 durumda |
| COL12A1collagen type XII alpha 1 chain | Sık (%30–79) | 2 durumda |
| COL25A1collagen type XXV alpha 1 chain | Sık (%30–79) | 1 durumda |
| COL6A1collagen type VI alpha 1 chain | Sık (%30–79) | 1 durumda |
| COL6A2collagen type VI alpha 2 chain | Sık (%30–79) | 1 durumda |
| COL6A3collagen type VI alpha 3 chain | Sık (%30–79) | 1 durumda |
| ERGIC1endoplasmic reticulum-golgi intermediate compartment 1 | Sık (%30–79) | 1 durumda |
| NEBnebulin | Sık (%30–79) | 1 durumda |
| PI4KAphosphatidylinositol 4-kinase alpha | Sık (%30–79) | 1 durumda |
| RPL10ribosomal protein L10 | Sık (%30–79) | 1 durumda |
| RYR1ryanodine receptor 1 | Sık (%30–79) | 1 durumda |
| SCYL2SCY1 like pseudokinase 2 | Sık (%30–79) | 1 durumda |
| SLC1A4solute carrier family 1 member 4 | Sık (%30–79) | 1 durumda |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Sık (%30–79) | 1 durumda |
| SPTBN4spectrin beta, non-erythrocytic 4 | Sık (%30–79) | 1 durumda |
| SVILsupervillin | Sık (%30–79) | 1 durumda |
| TOR1AIP1torsin 1A interacting protein 1 | Sık (%30–79) | 1 durumda |
| UBA1ubiquitin like modifier activating enzyme 1 | Sık (%30–79) | 1 durumda |
| VARS1valyl-tRNA synthetase 1 | Sık (%30–79) | 1 durumda |
| ACTA1actin alpha 1, skeletal muscle | Bazen (%5–29) | 1 durumda |
| ALADaminolevulinate dehydratase | Bazen (%5–29) | 1 durumda |
| ANO5anoctamin 5 | Bazen (%5–29) | 1 durumda |
| COG8component of oligomeric golgi complex 8 | Bazen (%5–29) | 1 durumda |
| DDR2discoidin domain receptor tyrosine kinase 2 | Bazen (%5–29) | 1 durumda |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Bazen (%5–29) | 1 durumda |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Bazen (%5–29) | 1 durumda |
| ITGA7integrin subunit alpha 7 | Bazen (%5–29) | 1 durumda |
17 gen daha göster
| Gen | Ne sıklıkla görüldüğü | Durumlar |
|---|---|---|
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Bazen (%5–29) | 2 durumda |
| MYL2myosin light chain 2 | Bazen (%5–29) | 1 durumda |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Bazen (%5–29) | 1 durumda |
| PSAT1phosphoserine aminotransferase 1 | Bazen (%5–29) | 1 durumda |
| RTTNrotatin | Bazen (%5–29) | 1 durumda |
| SELENONselenoprotein N | Bazen (%5–29) | 1 durumda |
| SYT2synaptotagmin 2 | Bazen (%5–29) | 1 durumda |
| TPM2tropomyosin 2 | Bazen (%5–29) | 1 durumda |
| TPM3tropomyosin 3 | Bazen (%5–29) | 1 durumda |
| APC2APC regulator of Wnt signaling pathway 2 | Seyrek (%1–4) | 1 durumda |
| NSD1nuclear receptor binding SET domain protein 1 | Seyrek (%1–4) | 1 durumda |
| C19orf12chromosome 19 open reading frame 12 | Kaydedilmedi | 1 durumda |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Kaydedilmedi | 1 durumda |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Kaydedilmedi | 1 durumda |
| FIG4FIG4 phosphoinositide 5-phosphatase | Kaydedilmedi | 1 durumda |
| FLNAfilamin A | Kaydedilmedi | 1 durumda |
| MMP2matrix metallopeptidase 2 | 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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