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Tunnus
Difficulty walking up stairs
Kliiniline nimetus: Difficulty climbing stairs
Reduced ability to climb stairs.
Kokkuvõte
- Kehasüsteem
- Abnormality of the musculoskeletal system
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Selle lehe andmed
Lehe aadressile saab lisada .json või päringusse application/json, et lugeda seda JSON-vormingus.
library(jsonlite)
url <- "https://dantelabs.com/traits/difficulty-climbing-stairs.json"
page <- fromJSON(url)
page$trait$nameDifficulty walking up stairsHP:0003551
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Lugege välja geenid, mis on seotud Difficulty walking up stairs-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test43 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.
- Limb-Girdle Muscular DystrophyReads 21 of these genesCOL6A1DAG1LMNASGCDSNUPNTTNAbout this report →
- Congenital MyopathiesReads 11 of these genesTNNT1TTNACTA1BIN1RYR1SPEGAbout this report →
- Distal MyopathiesReads 9 of these genesTTNADSS1DYSFFLNCLRP12MYOTAbout this report →
- Myofibrillar MyopathiesReads 7 of these genesBAG3HSPB8TTNPYROXD1FLNCMYOTAbout this report →
Show 39 more reports
- Congenital Muscular DystrophiesReads 10 of these genesCOL6A1DAG1POMKPOMT1SNUPNGMPPBAbout this report →
- Dilated CardiomyopathyReads 11 of these genesBAG3DMDLMNASGCDTTNFLNCAbout this report →
- Congenital Myasthenic SyndromeReads 7 of these genesSCN4AGMPPBPLECALG14ALG2DPAGT1About this report →
- Dystrophinopathies (Duchenne and Becker Muscular Dystrophy)Reads 1 of these genesDMDAbout this report →
- Glycogen Storage Disease IXdReads 1 of these genesPHKA1About this report →
- MEGF10-Related MyopathyReads 1 of these genesMEGF10About this report →
- PLEC-Related Epidermolysis Bullosa and Muscular DystrophyReads 1 of these genesPLECAbout this report →
- Pompe DiseaseReads 1 of these genesGAAAbout this report →
- SCN4A-Related Congenital MyopathyReads 1 of these genesSCN4AAbout this report →
- TOR1AIP1-Related Multisystem DisorderReads 1 of these genesTOR1AIP1About this report →
- TOR1AIP1-Related MyopathyReads 1 of these genesTOR1AIP1About this report →
- Congenital Disorders of GlycosylationReads 9 of these genesDAG1POMT1GMPPBPOMT2ALG14ALG2About this report →
- LipodystrophyReads 3 of these genesLMNALIPEMFN2About this report →
- Hypertrophic CardiomyopathyReads 6 of these genesTRIM63FLNCHADHAMYH7MYPNTCAPAbout this report →
- Fontaine Progeroid SyndromeReads 1 of these genesSLC25A4About this report →
- Malignant Hyperthermia SusceptibilityReads 1 of these genesRYR1About this report →
- Charcot-Marie-Tooth DiseaseReads 6 of these genesHSPB8LMNASPTAN1MFN2VCPPLEKHG5About this report →
- Rare Hereditary Peripheral NeuropathiesReads 10 of these genesHSPB8LMNAPOLGSPTAN1TFGHADHAAbout this report →
- Primary Mitochondrial DiseaseReads 7 of these genesPOLGRNASEH1RRM2BDNA2POLG2SLC25A4About this report →
- Familial Periodic ParalysisReads 1 of these genesSCN4AAbout this report →
- Spinal Muscular AtrophyReads 3 of these genesHSPB8SPTAN1PLEKHG5About this report →
- Fatty Acid Oxidation & Carnitine Cycle DisordersReads 2 of these genesHADHAHADHBAbout this report →
- Inherited Neurodegenerative DisordersReads 8 of these genesHSPB8POLGSPTAN1TFGVAPBTWNKAbout this report →
- Syndromic and Metabolic CardiomyopathiesReads 1 of these genesSLC25A4About this report →
- Left Ventricular NoncompactionReads 1 of these genesMYH7About this report →
- Amyotrophic Lateral Sclerosis (ALS)Reads 2 of these genesVAPBVCPAbout this report →
- Progressive Cardiac Conduction Disease & Sick Sinus SyndromeReads 1 of these genesLMNAAbout this report →
- Frontotemporal DementiaReads 1 of these genesVCPAbout this report →
- Glycogen Storage DiseaseReads 1 of these genesGYS1About this report →
- Hereditary Spastic ParaplegiaReads 2 of these genesSPTAN1TFGAbout this report →
- Autosomal Recessive Primary MicrocephalyReads 1 of these genesWDR62About this report →
- Epidermolysis BullosaReads 1 of these genesPLECAbout this report →
- Osteogenesis ImperfectaReads 1 of these genesANO5About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 1 of these genesSCN4AAbout this report →
- Female InfertilityReads 1 of these genesTWNKAbout this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 1 of these genesTWNKAbout this report →
- Lysosomal Storage DiseaseReads 1 of these genesGAAAbout this report →
- Retinitis PigmentosaReads 1 of these genesPOMGNT1About this report →
- Epilepsy (Full Panel)Reads 1 of these genesSPTAN1About this report →
Lugege välja geenid, mis on seotud Difficulty walking up stairs-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test75 geeni on seotud tunnusega Difficulty walking up stairs
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Difficulty walking up stairs. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| BAG3BAG cochaperone 3 | Alati | Esineb 1 haiguses |
| COL6A1collagen type VI alpha 1 chain | Alati | Esineb 1 haiguses |
| DAG1dystroglycan 1 | Alati | Esineb 2 haiguses |
| DMDdystrophin | Alati | Esineb 2 haiguses |
| GAAalpha glucosidase | Alati | Esineb 2 haiguses |
| HSPB8heat shock protein family B (small) member 8 | Alati | Esineb 1 haiguses |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Alati | Esineb 1 haiguses |
| LMNAlamin A/C | Alati | Esineb 1 haiguses |
| LRIF1ligand dependent nuclear receptor interacting factor 1 | Alati | Esineb 1 haiguses |
| MEGF10multiple EGF like domains 10 | Alati | Esineb 1 haiguses |
| MIEF2mitochondrial elongation factor 2 | Alati | Esineb 1 haiguses |
| POLGDNA polymerase gamma, catalytic subunit | Alati | Esineb 3 haiguses |
| POMKprotein O-mannose kinase | Alati | Esineb 1 haiguses |
| POMT1protein O-mannosyltransferase 1 | Alati | Esineb 2 haiguses |
| RYR3ryanodine receptor 3 | Alati | Esineb 1 haiguses |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Alati | Esineb 1 haiguses |
| SGCDsarcoglycan delta | Alati | Esineb 1 haiguses |
| SNUPNsnurportin 1 | Alati | Esineb 1 haiguses |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Alati | Esineb 1 haiguses |
| TFGtrafficking from ER to golgi regulator | Alati | Esineb 1 haiguses |
| TNNT1troponin T1, slow skeletal type | Alati | Esineb 2 haiguses |
| TRIM63tripartite motif containing 63 | Alati | Esineb 1 haiguses |
| TTNtitin | Alati | Esineb 3 haiguses |
| ACTA1actin alpha 1, skeletal muscle | Väga sageli (80–99%) | Esineb 1 haiguses |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ADSS1adenylosuccinate synthase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| BIN1bridging integrator 1 | Sageli (30–79%) | Esineb 1 haiguses |
| DNAJB6DnaJ heat shock protein family (Hsp40) member B6 | Sageli (30–79%) | Esineb 2 haiguses |
| DYSFdysferlin | Sageli (30–79%) | Esineb 4 haiguses |
| FLNCfilamin C | Sageli (30–79%) | Esineb 2 haiguses |
| GMPPBGDP-mannose pyrophosphorylase B | Sageli (30–79%) | Esineb 3 haiguses |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Sageli (30–79%) | Esineb 1 haiguses |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Sageli (30–79%) | Esineb 1 haiguses |
| LAMA2laminin subunit alpha 2 | Sageli (30–79%) | Esineb 1 haiguses |
| LIPElipase E, hormone sensitive type | Sageli (30–79%) | Esineb 1 haiguses |
| LRP12LDL receptor related protein 12 | Sageli (30–79%) | Esineb 1 haiguses |
| MFN2mitofusin 2 | Sageli (30–79%) | Esineb 1 haiguses |
| MT-TEmitochondrially encoded tRNA-Glu (GAA/G) | Sageli (30–79%) | Esineb 1 haiguses |
| MYOTmyotilin | Sageli (30–79%) | Esineb 1 haiguses |
| PLECplectin | Sageli (30–79%) | Esineb 2 haiguses |
Näita veel 35 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| POMT2protein O-mannosyltransferase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| RNASEH1ribonuclease H1 | Sageli (30–79%) | Esineb 1 haiguses |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Sageli (30–79%) | Esineb 2 haiguses |
| RYR1ryanodine receptor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SGCAsarcoglycan alpha | Sageli (30–79%) | Esineb 1 haiguses |
| SGCGsarcoglycan gamma | Sageli (30–79%) | Esineb 1 haiguses |
| SPEGstriated muscle enriched protein kinase | Sageli (30–79%) | Esineb 1 haiguses |
| TNPO3transportin 3 | Sageli (30–79%) | Esineb 1 haiguses |
| TOR1AIP1torsin 1A interacting protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| VAPBVAMP associated protein B and C | Sageli (30–79%) | Esineb 1 haiguses |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| CAPN3calpain 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DNA2DNA replication helicase/nuclease 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FKRPfukutin related protein | Mõnikord (5–29%) | Esineb 3 haiguses |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GYS1glycogen synthase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MYH7myosin heavy chain 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MYPNmyopalladin | Mõnikord (5–29%) | Esineb 1 haiguses |
| PHKA1phosphorylase kinase regulatory subunit alpha 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PHKG1phosphorylase kinase catalytic subunit gamma 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| POLG2DNA polymerase gamma 2, accessory subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC25A4solute carrier family 25 member 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TPM2tropomyosin 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TPM3tropomyosin 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TWNKtwinkle mtDNA helicase | Mõnikord (5–29%) | Esineb 2 haiguses |
| VCPvalosin containing protein | Mõnikord (5–29%) | Esineb 2 haiguses |
| WDR62WD repeat domain 62 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ANO5anoctamin 5 | Pole registreeritud | Esineb 1 haiguses |
| KBTBD13kelch repeat and BTB domain containing 13 | Pole registreeritud | Esineb 1 haiguses |
| PLEKHG5pleckstrin homology and RhoGEF domain containing G5 | Pole registreeritud | Esineb 1 haiguses |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Pole registreeritud | Esineb 1 haiguses |
| TCAPtitin-cap | Pole registreeritud | Esineb 1 haiguses |
| VMA21vacuolar ATPase assembly factor VMA21 | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.19-9814e911.
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From traits to your genome
Read the genes behind these traits in your own DNA.
The Genome Test sequences nearly all of your DNA, not a preset panel, so every gene on these pages is in your data. Premium adds 810+ physician-ready reports.
Alates 449 $
Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
