AtlasTunnus
Abnormal endocardium morphology
An abnormality of the endocardium.
Kokkuvõte
- Teised nimetused
- Abnormality of the endocardium, Abnormality of the endomycoardium
- Kehasüsteem
- Abnormality of the cardiovascular 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/abnormal-endocardium-morphology.json"
page <- fromJSON(url)
page$trait$nameLugege välja geenid, mis on seotud Abnormal endocardium morphology-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test19 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.
- Chronic Mucocutaneous CandidiasisReads 3 of these genesIL17RAIL17RCTRAF3IP2About this report →
- Hereditary Arterial CalcificationReads 2 of these genesABCC6ENPP1About this report →
- Fabry DiseaseReads 1 of these genesGLAAbout this report →
- Pseudoxanthoma ElasticumReads 1 of these genesABCC6About this report →
Show 15 more reports
- Noonan SyndromeReads 3 of these genesBRAFPTPN11RAF1About this report →
- Hypertrophic CardiomyopathyReads 4 of these genesBRAFMYH7PTPN11RAF1About this report →
- Chronic Granulomatous DiseaseReads 1 of these genesNCF1About this report →
- Left Ventricular NoncompactionReads 1 of these genesMYH7About this report →
- Hereditary Rickets (Hypophosphatemic and Vitamin D-Dependent)Reads 1 of these genesENPP1About this report →
- Mendelian Susceptibility to Mycobacterial Disease (MSMD)Reads 1 of these genesIL12BAbout this report →
- Dilated CardiomyopathyReads 2 of these genesMYH7RAF1About this report →
- Inherited Congenital Heart DefectsReads 1 of these genesELNAbout this report →
- Other Inborn Errors of ImmunityReads 4 of these genesIL17RAIL17RCNCF1TRAF3IP2About this report →
- Cutis LaxaReads 1 of these genesELNAbout this report →
- Distal MyopathiesReads 1 of these genesMYH7About this report →
- Congenital MyopathiesReads 1 of these genesMYH7About this report →
- Male InfertilityReads 1 of these genesFKBP6About this report →
- Lysosomal Storage DiseaseReads 1 of these genesGLAAbout this report →
- Primary Mitochondrial DiseaseReads 1 of these genesDNAJC30About this report →
Lugege välja geenid, mis on seotud Abnormal endocardium morphology-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test33 geeni on seotud tunnusega Abnormal endocardium morphology
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Abnormal endocardium morphology. 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 |
|---|---|---|
| ABCC6ATP binding cassette subfamily C member 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Mõnikord (5–29%) | Esineb 1 haiguses |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| CLEC7AC-type lectin domain containing 7A | Mõnikord (5–29%) | Esineb 1 haiguses |
| CLIP2CAP-Gly domain containing linker protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EIF4Heukaryotic translation initiation factor 4H | Mõnikord (5–29%) | Esineb 1 haiguses |
| ELNelastin | Mõnikord (5–29%) | Esineb 1 haiguses |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Mõnikord (5–29%) | Esineb 1 haiguses |
| GLAgalactosidase alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| GTF2Igeneral transcription factor IIi | Mõnikord (5–29%) | Esineb 1 haiguses |
| GTF2IRD1GTF2I repeat domain containing 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GTF2IRD2GTF2I repeat domain containing 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HLA-Bmajor histocompatibility complex, class I, B | Mõnikord (5–29%) | Esineb 1 haiguses |
| IL12Binterleukin 12B | Mõnikord (5–29%) | Esineb 1 haiguses |
| IL17Finterleukin 17F | Mõnikord (5–29%) | Esineb 1 haiguses |
| IL17RAinterleukin 17 receptor A | Mõnikord (5–29%) | Esineb 1 haiguses |
| IL17RCinterleukin 17 receptor C | Mõnikord (5–29%) | Esineb 1 haiguses |
| LIMK1LIM domain kinase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| METTL27methyltransferase like 27 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MLXMAX dimerization protein MLX | Mõnikord (5–29%) | Esineb 1 haiguses |
| MYH7myosin heavy chain 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NCF1neutrophil cytosolic factor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| RFC2replication factor C subunit 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| STX1Asyntaxin 1A | Mõnikord (5–29%) | Esineb 1 haiguses |
| TBL2transducin beta like 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TMEM270transmembrane protein 270 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRAF3IP2TRAF3 interacting protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| VPS37DVPS37D subunit of ESCRT-I | Mõnikord (5–29%) | 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
