Trait
Narrowing of aortic valve
Clinical name: Aortic valve stenosis
The presence of a stenosis (narrowing) of the aortic valve.
Summary
- Also called
- Aortic stenosis, Valvular aortic stenosis
- Body system
- Abnormality of the cardiovascular system
This page as data
Add .json to the page's address, or ask for application/json, to read it as JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/aortic-valve-stenosis.json"
page <- fromJSON(url)
page$trait$nameRead the genes linked to Narrowing of aortic valve, and the rest of your genome, with one test.
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Get my Genome Test73 genes linked to Narrowing of aortic valve
Changes in these genes cause rare conditions in which Narrowing of aortic valve is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| IDUAalpha-L-iduronidase | Always | In 1 condition |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Always | In 1 condition |
| B4GALT7beta-1,4-galactosyltransferase 7 | Very often (80–99%) | In 1 condition |
| GATA5GATA binding protein 5 | Very often (80–99%) | In 2 conditions |
| LMNAlamin A/C | Very often (80–99%) | In 3 conditions |
| NKX2-5NK2 homeobox 5 | Very often (80–99%) | In 1 condition |
| NOTCH1notch receptor 1 | Very often (80–99%) | In 2 conditions |
| ROBO4roundabout guidance receptor 4 | Very often (80–99%) | In 2 conditions |
| SMAD6SMAD family member 6 | Very often (80–99%) | In 2 conditions |
| ADAMTS10ADAM metallopeptidase with thrombospondin type 1 motif 10 | Often (30–79%) | In 2 conditions |
| ANKS6ankyrin repeat and sterile alpha motif domain containing 6 | Often (30–79%) | In 1 condition |
| ARSKarylsulfatase family member K | Often (30–79%) | In 1 condition |
| CCDC22CCC complex scaffolding subunit CCDC22 | Often (30–79%) | In 1 condition |
| DPYSL5dihydropyrimidinase like 5 | Often (30–79%) | In 1 condition |
| EBPEBP cholestenol delta-isomerase | Often (30–79%) | In 2 conditions |
| HGDhomogentisate 1,2-dioxygenase | Often (30–79%) | In 1 condition |
| LTBP2latent transforming growth factor beta binding protein 2 | Often (30–79%) | In 2 conditions |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Often (30–79%) | In 1 condition |
| SLC2A10solute carrier family 2 member 10 | Often (30–79%) | In 1 condition |
| TWIST1twist family bHLH transcription factor 1 | Often (30–79%) | In 1 condition |
| VPS35LVPS35 endosomal protein sorting factor like | Often (30–79%) | In 1 condition |
| WASHC5WASH complex subunit 5 | Often (30–79%) | In 2 conditions |
| ABCC6ATP binding cassette subfamily C member 6 | Sometimes (5–29%) | In 1 condition |
| ABCG5ATP binding cassette subfamily G member 5 | Sometimes (5–29%) | In 1 condition |
| ABCG8ATP binding cassette subfamily G member 8 | Sometimes (5–29%) | In 1 condition |
| ADAMTS17ADAM metallopeptidase with thrombospondin type 1 motif 17 | Sometimes (5–29%) | In 1 condition |
| ADAMTSL2ADAMTS like 2 | Sometimes (5–29%) | In 2 conditions |
| AMER1APC membrane recruitment protein 1 | Sometimes (5–29%) | In 1 condition |
| CLIC2CLIC family member 2 | Sometimes (5–29%) | In 1 condition |
| CTNNB1catenin beta 1 | Sometimes (5–29%) | In 1 condition |
| DPH1diphthamide biosynthesis 1 | Sometimes (5–29%) | In 1 condition |
| DPH2diphthamide biosynthesis 2 | Sometimes (5–29%) | In 1 condition |
| EHMT1euchromatic histone lysine methyltransferase 1 | Sometimes (5–29%) | In 1 condition |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Sometimes (5–29%) | In 1 condition |
| FBN1fibrillin 1 | Sometimes (5–29%) | In 4 conditions |
| FGFR1fibroblast growth factor receptor 1 | Sometimes (5–29%) | In 1 condition |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Sometimes (5–29%) | In 1 condition |
| FOXF1forkhead box F1 | Sometimes (5–29%) | In 1 condition |
| FRYLFRY like transcription coactivator | Sometimes (5–29%) | In 1 condition |
| GBA1glucosylceramidase beta 1 | Sometimes (5–29%) | In 2 conditions |
Show 33 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| KICS2KICSTOR subunit 2 | Sometimes (5–29%) | In 1 condition |
| KRASKRas proto-oncogene, GTPase | Sometimes (5–29%) | In 1 condition |
| LTBP3latent transforming growth factor beta binding protein 3 | Sometimes (5–29%) | In 1 condition |
| NEK8NIMA related kinase 8 | Sometimes (5–29%) | In 2 conditions |
| NOTCH2notch receptor 2 | Sometimes (5–29%) | In 1 condition |
| NPHP3nephrocystin 3 | Sometimes (5–29%) | In 3 conditions |
| NR2F2nuclear receptor subfamily 2 group F member 2 | Sometimes (5–29%) | In 1 condition |
| ODAD1outer dynein arm docking complex subunit 1 | Sometimes (5–29%) | In 1 condition |
| RIGIRNA sensor RIG-I | Sometimes (5–29%) | In 1 condition |
| TAF2TATA-box binding protein associated factor 2 | Sometimes (5–29%) | In 1 condition |
| TRAF7TNF receptor associated factor 7 | Sometimes (5–29%) | In 1 condition |
| WT1WT1 transcription factor | Sometimes (5–29%) | In 1 condition |
| ZEB2zinc finger E-box binding homeobox 2 | Sometimes (5–29%) | In 2 conditions |
| ZMPSTE24zinc metallopeptidase STE24 | Sometimes (5–29%) | In 1 condition |
| CREBBPCREB binding lysine acetyltransferase | Rarely (1–4%) | In 2 conditions |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Rarely (1–4%) | In 2 conditions |
| EP300EP300 lysine acetyltransferase | Rarely (1–4%) | In 1 condition |
| KDM6Alysine demethylase 6A | Rarely (1–4%) | In 1 condition |
| KMT2Dlysine methyltransferase 2D | Rarely (1–4%) | In 1 condition |
| TTRtransthyretin | Rarely (1–4%) | In 1 condition |
| ACTBactin beta | Not recorded | In 1 condition |
| ARHGAP31Rho GTPase activating protein 31 | Not recorded | In 1 condition |
| BCORBCL6 corepressor | Not recorded | In 1 condition |
| CBLCbl proto-oncogene | Not recorded | In 1 condition |
| CHST3carbohydrate sulfotransferase 3 | Not recorded | In 1 condition |
| GLB1galactosidase beta 1 | Not recorded | In 1 condition |
| GNPTGN-acetylglucosamine-1-phosphate transferase subunit gamma | Not recorded | In 1 condition |
| HAAO3-hydroxyanthranilate 3,4-dioxygenase | Not recorded | In 1 condition |
| IFIH1interferon induced with helicase C domain 1 | Not recorded | In 1 condition |
| SMAD4SMAD family member 4 | Not recorded | In 1 condition |
| SNIP1Smad nuclear interacting protein 1 | Not recorded | In 1 condition |
| TAB2TGF-beta activated kinase 1 (MAP3K7) binding protein 2 | Not recorded | In 1 condition |
| VWFvon Willebrand factor | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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