{
  "url": "https://dantelabs.com/traits/aortic-valve-stenosis",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "aortic-valve-stenosis",
    "id": "HP:0001650",
    "name": "Narrowing of aortic valve",
    "label": "Aortic valve stenosis",
    "definition": "The presence of a stenosis (narrowing) of the aortic valve.",
    "synonyms": [
      "Aortic stenosis",
      "Valvular aortic stenosis"
    ],
    "systems": [
      {
        "slug": "abnormality-of-the-cardiovascular-system",
        "name": "Abnormality of the cardiovascular system",
        "url": "https://dantelabs.com/traits/abnormality-of-the-cardiovascular-system"
      }
    ],
    "broader": [
      {
        "slug": "abnormal-aortic-valve-physiology",
        "name": "Abnormal aortic valve physiology",
        "url": "https://dantelabs.com/traits/abnormal-aortic-valve-physiology"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "idua",
        "symbol": "IDUA",
        "hgnc": "HGNC:5391",
        "name": "alpha-L-iduronidase",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/idua"
      },
      {
        "slug": "rmrp",
        "symbol": "RMRP",
        "hgnc": "HGNC:10031",
        "name": "RNA component of mitochondrial RNA processing endoribonuclease",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rmrp"
      },
      {
        "slug": "b4galt7",
        "symbol": "B4GALT7",
        "hgnc": "HGNC:930",
        "name": "beta-1,4-galactosyltransferase 7",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/b4galt7"
      },
      {
        "slug": "gata5",
        "symbol": "GATA5",
        "hgnc": "HGNC:15802",
        "name": "GATA binding protein 5",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/gata5"
      },
      {
        "slug": "lmna",
        "symbol": "LMNA",
        "hgnc": "HGNC:6636",
        "name": "lamin A/C",
        "frequency": "very-frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/lmna"
      },
      {
        "slug": "nkx2-5",
        "symbol": "NKX2-5",
        "hgnc": "HGNC:2488",
        "name": "NK2 homeobox 5",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nkx2-5"
      },
      {
        "slug": "notch1",
        "symbol": "NOTCH1",
        "hgnc": "HGNC:7881",
        "name": "notch receptor 1",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/notch1"
      },
      {
        "slug": "robo4",
        "symbol": "ROBO4",
        "hgnc": "HGNC:17985",
        "name": "roundabout guidance receptor 4",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/robo4"
      },
      {
        "slug": "smad6",
        "symbol": "SMAD6",
        "hgnc": "HGNC:6772",
        "name": "SMAD family member 6",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/smad6"
      },
      {
        "slug": "adamts10",
        "symbol": "ADAMTS10",
        "hgnc": "HGNC:13201",
        "name": "ADAM metallopeptidase with thrombospondin type 1 motif 10",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/adamts10"
      },
      {
        "slug": "anks6",
        "symbol": "ANKS6",
        "hgnc": "HGNC:26724",
        "name": "ankyrin repeat and sterile alpha motif domain containing 6",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/anks6"
      },
      {
        "slug": "arsk",
        "symbol": "ARSK",
        "hgnc": "HGNC:25239",
        "name": "arylsulfatase family member K",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/arsk"
      },
      {
        "slug": "ccdc22",
        "symbol": "CCDC22",
        "hgnc": "HGNC:28909",
        "name": "CCC complex scaffolding subunit CCDC22",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ccdc22"
      },
      {
        "slug": "dpysl5",
        "symbol": "DPYSL5",
        "hgnc": "HGNC:20637",
        "name": "dihydropyrimidinase like 5",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dpysl5"
      },
      {
        "slug": "ebp",
        "symbol": "EBP",
        "hgnc": "HGNC:3133",
        "name": "EBP cholestenol delta-isomerase",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ebp"
      },
      {
        "slug": "hgd",
        "symbol": "HGD",
        "hgnc": "HGNC:4892",
        "name": "homogentisate 1,2-dioxygenase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hgd"
      },
      {
        "slug": "ltbp2",
        "symbol": "LTBP2",
        "hgnc": "HGNC:6715",
        "name": "latent transforming growth factor beta binding protein 2",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ltbp2"
      },
      {
        "slug": "scn1b",
        "symbol": "SCN1B",
        "hgnc": "HGNC:10586",
        "name": "sodium voltage-gated channel beta subunit 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/scn1b"
      },
      {
        "slug": "slc2a10",
        "symbol": "SLC2A10",
        "hgnc": "HGNC:13444",
        "name": "solute carrier family 2 member 10",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc2a10"
      },
      {
        "slug": "twist1",
        "symbol": "TWIST1",
        "hgnc": "HGNC:12428",
        "name": "twist family bHLH transcription factor 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/twist1"
      },
      {
        "slug": "vps35l",
        "symbol": "VPS35L",
        "hgnc": "HGNC:24641",
        "name": "VPS35 endosomal protein sorting factor like",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vps35l"
      },
      {
        "slug": "washc5",
        "symbol": "WASHC5",
        "hgnc": "HGNC:28984",
        "name": "WASH complex subunit 5",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/washc5"
      },
      {
        "slug": "abcc6",
        "symbol": "ABCC6",
        "hgnc": "HGNC:57",
        "name": "ATP binding cassette subfamily C member 6",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/abcc6"
      },
      {
        "slug": "abcg5",
        "symbol": "ABCG5",
        "hgnc": "HGNC:13886",
        "name": "ATP binding cassette subfamily G member 5",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/abcg5"
      },
      {
        "slug": "abcg8",
        "symbol": "ABCG8",
        "hgnc": "HGNC:13887",
        "name": "ATP binding cassette subfamily G member 8",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/abcg8"
      },
      {
        "slug": "adamts17",
        "symbol": "ADAMTS17",
        "hgnc": "HGNC:17109",
        "name": "ADAM metallopeptidase with thrombospondin type 1 motif 17",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/adamts17"
      },
      {
        "slug": "adamtsl2",
        "symbol": "ADAMTSL2",
        "hgnc": "HGNC:14631",
        "name": "ADAMTS like 2",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/adamtsl2"
      },
      {
        "slug": "amer1",
        "symbol": "AMER1",
        "hgnc": "HGNC:26837",
        "name": "APC membrane recruitment protein 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/amer1"
      },
      {
        "slug": "clic2",
        "symbol": "CLIC2",
        "hgnc": "HGNC:2063",
        "name": "CLIC family member 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/clic2"
      },
      {
        "slug": "ctnnb1",
        "symbol": "CTNNB1",
        "hgnc": "HGNC:2514",
        "name": "catenin beta 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ctnnb1"
      },
      {
        "slug": "dph1",
        "symbol": "DPH1",
        "hgnc": "HGNC:3003",
        "name": "diphthamide biosynthesis 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dph1"
      },
      {
        "slug": "dph2",
        "symbol": "DPH2",
        "hgnc": "HGNC:3004",
        "name": "diphthamide biosynthesis 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dph2"
      },
      {
        "slug": "ehmt1",
        "symbol": "EHMT1",
        "hgnc": "HGNC:24650",
        "name": "euchromatic histone lysine methyltransferase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ehmt1"
      },
      {
        "slug": "enpp1",
        "symbol": "ENPP1",
        "hgnc": "HGNC:3356",
        "name": "ectonucleotide pyrophosphatase/phosphodiesterase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/enpp1"
      },
      {
        "slug": "fbn1",
        "symbol": "FBN1",
        "hgnc": "HGNC:3603",
        "name": "fibrillin 1",
        "frequency": "occasional",
        "diseases": 4,
        "url": "https://dantelabs.com/genes/fbn1"
      },
      {
        "slug": "fgfr1",
        "symbol": "FGFR1",
        "hgnc": "HGNC:3688",
        "name": "fibroblast growth factor receptor 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fgfr1"
      },
      {
        "slug": "fli1",
        "symbol": "FLI1",
        "hgnc": "HGNC:3749",
        "name": "Fli-1 proto-oncogene, ETS transcription factor",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fli1"
      },
      {
        "slug": "foxf1",
        "symbol": "FOXF1",
        "hgnc": "HGNC:3809",
        "name": "forkhead box F1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/foxf1"
      },
      {
        "slug": "fryl",
        "symbol": "FRYL",
        "hgnc": "HGNC:29127",
        "name": "FRY like transcription coactivator",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fryl"
      },
      {
        "slug": "gba1",
        "symbol": "GBA1",
        "hgnc": "HGNC:4177",
        "name": "glucosylceramidase beta 1",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/gba1"
      },
      {
        "slug": "kics2",
        "symbol": "KICS2",
        "hgnc": "HGNC:26517",
        "name": "KICSTOR subunit 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kics2"
      },
      {
        "slug": "kras",
        "symbol": "KRAS",
        "hgnc": "HGNC:6407",
        "name": "KRas proto-oncogene, GTPase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kras"
      },
      {
        "slug": "ltbp3",
        "symbol": "LTBP3",
        "hgnc": "HGNC:6716",
        "name": "latent transforming growth factor beta binding protein 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ltbp3"
      },
      {
        "slug": "nek8",
        "symbol": "NEK8",
        "hgnc": "HGNC:13387",
        "name": "NIMA related kinase 8",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/nek8"
      },
      {
        "slug": "notch2",
        "symbol": "NOTCH2",
        "hgnc": "HGNC:7882",
        "name": "notch receptor 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/notch2"
      },
      {
        "slug": "nphp3",
        "symbol": "NPHP3",
        "hgnc": "HGNC:7907",
        "name": "nephrocystin 3",
        "frequency": "occasional",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/nphp3"
      },
      {
        "slug": "nr2f2",
        "symbol": "NR2F2",
        "hgnc": "HGNC:7976",
        "name": "nuclear receptor subfamily 2 group F member 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nr2f2"
      },
      {
        "slug": "odad1",
        "symbol": "ODAD1",
        "hgnc": "HGNC:26560",
        "name": "outer dynein arm docking complex subunit 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/odad1"
      },
      {
        "slug": "rigi",
        "symbol": "RIGI",
        "hgnc": "HGNC:19102",
        "name": "RNA sensor RIG-I",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rigi"
      },
      {
        "slug": "taf2",
        "symbol": "TAF2",
        "hgnc": "HGNC:11536",
        "name": "TATA-box binding protein associated factor 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/taf2"
      },
      {
        "slug": "traf7",
        "symbol": "TRAF7",
        "hgnc": "HGNC:20456",
        "name": "TNF receptor associated factor 7",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/traf7"
      },
      {
        "slug": "wt1",
        "symbol": "WT1",
        "hgnc": "HGNC:12796",
        "name": "WT1 transcription factor",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/wt1"
      },
      {
        "slug": "zeb2",
        "symbol": "ZEB2",
        "hgnc": "HGNC:14881",
        "name": "zinc finger E-box binding homeobox 2",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/zeb2"
      },
      {
        "slug": "zmpste24",
        "symbol": "ZMPSTE24",
        "hgnc": "HGNC:12877",
        "name": "zinc metallopeptidase STE24",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/zmpste24"
      },
      {
        "slug": "crebbp",
        "symbol": "CREBBP",
        "hgnc": "HGNC:2348",
        "name": "CREB binding lysine acetyltransferase",
        "frequency": "very-rare",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/crebbp"
      },
      {
        "slug": "dyrk1a",
        "symbol": "DYRK1A",
        "hgnc": "HGNC:3091",
        "name": "dual specificity tyrosine phosphorylation regulated kinase 1A",
        "frequency": "very-rare",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/dyrk1a"
      },
      {
        "slug": "ep300",
        "symbol": "EP300",
        "hgnc": "HGNC:3373",
        "name": "EP300 lysine acetyltransferase",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ep300"
      },
      {
        "slug": "kdm6a",
        "symbol": "KDM6A",
        "hgnc": "HGNC:12637",
        "name": "lysine demethylase 6A",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kdm6a"
      },
      {
        "slug": "kmt2d",
        "symbol": "KMT2D",
        "hgnc": "HGNC:7133",
        "name": "lysine methyltransferase 2D",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kmt2d"
      },
      {
        "slug": "ttr",
        "symbol": "TTR",
        "hgnc": "HGNC:12405",
        "name": "transthyretin",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ttr"
      },
      {
        "slug": "actb",
        "symbol": "ACTB",
        "hgnc": "HGNC:132",
        "name": "actin beta",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/actb"
      },
      {
        "slug": "arhgap31",
        "symbol": "ARHGAP31",
        "hgnc": "HGNC:29216",
        "name": "Rho GTPase activating protein 31",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/arhgap31"
      },
      {
        "slug": "bcor",
        "symbol": "BCOR",
        "hgnc": "HGNC:20893",
        "name": "BCL6 corepressor",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bcor"
      },
      {
        "slug": "cbl",
        "symbol": "CBL",
        "hgnc": "HGNC:1541",
        "name": "Cbl proto-oncogene",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cbl"
      },
      {
        "slug": "chst3",
        "symbol": "CHST3",
        "hgnc": "HGNC:1971",
        "name": "carbohydrate sulfotransferase 3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/chst3"
      },
      {
        "slug": "glb1",
        "symbol": "GLB1",
        "hgnc": "HGNC:4298",
        "name": "galactosidase beta 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/glb1"
      },
      {
        "slug": "gnptg",
        "symbol": "GNPTG",
        "hgnc": "HGNC:23026",
        "name": "N-acetylglucosamine-1-phosphate transferase subunit gamma",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gnptg"
      },
      {
        "slug": "haao",
        "symbol": "HAAO",
        "hgnc": "HGNC:4796",
        "name": "3-hydroxyanthranilate 3,4-dioxygenase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/haao"
      },
      {
        "slug": "ifih1",
        "symbol": "IFIH1",
        "hgnc": "HGNC:18873",
        "name": "interferon induced with helicase C domain 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ifih1"
      },
      {
        "slug": "smad4",
        "symbol": "SMAD4",
        "hgnc": "HGNC:6770",
        "name": "SMAD family member 4",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/smad4"
      },
      {
        "slug": "snip1",
        "symbol": "SNIP1",
        "hgnc": "HGNC:30587",
        "name": "Smad nuclear interacting protein 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/snip1"
      },
      {
        "slug": "tab2",
        "symbol": "TAB2",
        "hgnc": "HGNC:17075",
        "name": "TGF-beta activated kinase 1 (MAP3K7) binding protein 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tab2"
      },
      {
        "slug": "vwf",
        "symbol": "VWF",
        "hgnc": "HGNC:12726",
        "name": "von Willebrand factor",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vwf"
      }
    ]
  }
}