Tunnus
Abnormal blood clot
Kliiniline nimetus: Abnormal thrombosis
Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis).
Kokkuvõte
- Teised nimetused
- Abnormal blood clotting
Selle lehe andmed
Lehe aadressile saab lisada .json või päringusse application/json, et lugeda seda JSON-vormingus.
library(jsonlite)
url <- "https://dantelabs.com/traits/abnormal-thrombosis.json"
page <- fromJSON(url)
page$trait$nameLugege välja geenid, mis on seotud Abnormal blood clot-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test18 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.
- PancreatitisReads 3 of these genesCTRCPRSS1SPINK1About this report →
- Congenital Factor XII DeficiencyReads 1 of these genesF12About this report →
- Cystic FibrosisReads 1 of these genesCFTRAbout this report →
- Hereditary Thrombocythaemia (JAK2)Reads 1 of these genesJAK2About this report →
Show 14 more reports
- MPL-Related Hereditary ThrombocythaemiaReads 1 of these genesMPLAbout this report →
- Hereditary AngioedemaReads 1 of these genesF12About this report →
- MTOR Pathway Megalencephaly and Overgrowth DisordersReads 1 of these genesPIK3CAAbout this report →
- Heritable Pulmonary Arterial Hypertension (HPAH)Reads 1 of these genesBMPR2About this report →
- Red Blood Cell Membrane DisordersReads 1 of these genesRHAGAbout this report →
- Inherited ThrombocytopeniasReads 2 of these genesMPLMYH9About this report →
- ThrombophiliaReads 1 of these genesHRGAbout this report →
- Cutis LaxaReads 1 of these genesSLC2A10About this report →
- Homocystinuria & Cobalamin DisordersReads 1 of these genesMTHFRAbout this report →
- Congenital Disorders of GlycosylationReads 2 of these genesMPIRFT1About this report →
- Male InfertilityReads 1 of these genesCFTRAbout this report →
- Hearing Loss and DeafnessReads 1 of these genesMYH9About this report →
- Other Inborn Errors of ImmunityReads 1 of these genesTET2About this report →
- Rare Hereditary Peripheral NeuropathiesReads 1 of these genesMTHFRAbout this report →
Lugege välja geenid, mis on seotud Abnormal blood clot-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test19 geeni on seotud tunnusega Abnormal blood clot
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Abnormal blood clot. 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 |
|---|---|---|
| BMPR2bone morphogenetic protein receptor type 2 | Sageli (30–79%) | Esineb 1 haiguses |
| MPImannose phosphate isomerase | Sageli (30–79%) | Esineb 2 haiguses |
| RFT1RFT1 glycolipid translocator homolog | Sageli (30–79%) | Esineb 1 haiguses |
| CALRcalreticulin | Mõnikord (5–29%) | Esineb 1 haiguses |
| F12coagulation factor XII | Mõnikord (5–29%) | Esineb 1 haiguses |
| JAK2Janus kinase 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| MPLMPL proto-oncogene, thrombopoietin receptor | Mõnikord (5–29%) | Esineb 1 haiguses |
| MTHFRmethylenetetrahydrofolate reductase | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| RHAGRh associated glycoprotein | Mõnikord (5–29%) | Esineb 1 haiguses |
| TET2tet methylcytosine dioxygenase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CFTRCF transmembrane conductance regulator | Pole registreeritud | Esineb 1 haiguses |
| CTRCchymotrypsin C | Pole registreeritud | Esineb 1 haiguses |
| HRGhistidine rich glycoprotein | Pole registreeritud | Esineb 1 haiguses |
| MYH9myosin heavy chain 9 | Pole registreeritud | Esineb 1 haiguses |
| PRSS1serine protease 1 | Pole registreeritud | Esineb 1 haiguses |
| PRSS2serine protease 2 | Pole registreeritud | Esineb 1 haiguses |
| SLC2A10solute carrier family 2 member 10 | Pole registreeritud | Esineb 1 haiguses |
| SPINK1serine peptidase inhibitor Kazal type 1 | 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.
Kitsamad tunnused
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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Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
