{
  "url": "https://dantelabs.com/traits/abnormality-on-pulmonary-function-testing",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "abnormality-on-pulmonary-function-testing",
    "id": "HP:0030878",
    "name": "Abnormality on pulmonary function testing",
    "definition": "Any anomaly measure by pulmonary function testing, which includes spirometry, measures of diffusing capacity, and plethysmography.",
    "synonyms": [
      "Abnormal pulmonary function test"
    ],
    "systems": [
      {
        "slug": "abnormality-of-the-respiratory-system",
        "name": "Abnormality of the respiratory system",
        "url": "https://dantelabs.com/traits/abnormality-of-the-respiratory-system"
      }
    ],
    "broader": [
      {
        "slug": "abnormal-respiratory-system-physiology",
        "name": "Functional respiratory abnormality",
        "url": "https://dantelabs.com/traits/abnormal-respiratory-system-physiology"
      }
    ],
    "narrower": [
      {
        "slug": "restrictive-ventilatory-defect",
        "name": "Stiff lung or chest wall causing decreased lung volume",
        "genes": 96,
        "url": "https://dantelabs.com/traits/restrictive-ventilatory-defect"
      },
      {
        "slug": "reduced-forced-vital-capacity",
        "name": "Reduced forced vital capacity",
        "genes": 43,
        "url": "https://dantelabs.com/traits/reduced-forced-vital-capacity"
      },
      {
        "slug": "reduced-forced-expiratory-volume-in-one-second",
        "name": "Reduced forced expiratory volume in one second",
        "genes": 31,
        "url": "https://dantelabs.com/traits/reduced-forced-expiratory-volume-in-one-second"
      },
      {
        "slug": "reduced-vital-capacity",
        "name": "Reduced vital capacity",
        "genes": 18,
        "url": "https://dantelabs.com/traits/reduced-vital-capacity"
      },
      {
        "slug": "reduced-fev1-fvc-ratio",
        "name": "Reduced FEV1/FVC ratio",
        "genes": 8,
        "url": "https://dantelabs.com/traits/reduced-fev1-fvc-ratio"
      },
      {
        "slug": "decreased-forced-expiratory-flow-25-75",
        "name": "Decreased forced expiratory flow 25-75%",
        "genes": 4,
        "url": "https://dantelabs.com/traits/decreased-forced-expiratory-flow-25-75"
      },
      {
        "slug": "abnormal-dlco",
        "name": "Abnormal DLCO",
        "genes": 0,
        "url": "https://dantelabs.com/traits/abnormal-dlco"
      },
      {
        "slug": "abnormal-rv-tlc-ratio",
        "name": "Abnormal RV/TLC ratio",
        "genes": 0,
        "url": "https://dantelabs.com/traits/abnormal-rv-tlc-ratio"
      }
    ],
    "genes": [
      {
        "slug": "acta1",
        "symbol": "ACTA1",
        "hgnc": "HGNC:129",
        "name": "actin alpha 1, skeletal muscle",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/acta1"
      },
      {
        "slug": "ang",
        "symbol": "ANG",
        "hgnc": "HGNC:483",
        "name": "angiogenin",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ang"
      },
      {
        "slug": "anxa11",
        "symbol": "ANXA11",
        "hgnc": "HGNC:535",
        "name": "annexin A11",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/anxa11"
      },
      {
        "slug": "atxn2",
        "symbol": "ATXN2",
        "hgnc": "HGNC:10555",
        "name": "ataxin 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atxn2"
      },
      {
        "slug": "ccnf",
        "symbol": "CCNF",
        "hgnc": "HGNC:1591",
        "name": "cyclin F",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ccnf"
      },
      {
        "slug": "cfap410",
        "symbol": "CFAP410",
        "hgnc": "HGNC:1260",
        "name": "cilia and flagella associated protein 410",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cfap410"
      },
      {
        "slug": "chchd10",
        "symbol": "CHCHD10",
        "hgnc": "HGNC:15559",
        "name": "coiled-coil-helix-coiled-coil-helix domain containing 10",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/chchd10"
      },
      {
        "slug": "chmp2b",
        "symbol": "CHMP2B",
        "hgnc": "HGNC:24537",
        "name": "charged multivesicular body protein 2B",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/chmp2b"
      },
      {
        "slug": "dao",
        "symbol": "DAO",
        "hgnc": "HGNC:2671",
        "name": "D-amino acid oxidase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dao"
      },
      {
        "slug": "dctn1",
        "symbol": "DCTN1",
        "hgnc": "HGNC:2711",
        "name": "dynactin subunit 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dctn1"
      },
      {
        "slug": "erbb4",
        "symbol": "ERBB4",
        "hgnc": "HGNC:3432",
        "name": "erb-b2 receptor tyrosine kinase 4",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/erbb4"
      },
      {
        "slug": "fig4",
        "symbol": "FIG4",
        "hgnc": "HGNC:16873",
        "name": "FIG4 phosphoinositide 5-phosphatase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fig4"
      },
      {
        "slug": "fus",
        "symbol": "FUS",
        "hgnc": "HGNC:4010",
        "name": "FUS RNA binding protein",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fus"
      },
      {
        "slug": "gle1",
        "symbol": "GLE1",
        "hgnc": "HGNC:4315",
        "name": "GLE1 RNA export mediator",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gle1"
      },
      {
        "slug": "glt8d1",
        "symbol": "GLT8D1",
        "hgnc": "HGNC:24870",
        "name": "glycosyltransferase 8 domain containing 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/glt8d1"
      },
      {
        "slug": "hla-dpb1",
        "symbol": "HLA-DPB1",
        "hgnc": "HGNC:4940",
        "name": "major histocompatibility complex, class II, DP beta 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hla-dpb1"
      },
      {
        "slug": "hnrnpa1",
        "symbol": "HNRNPA1",
        "hgnc": "HGNC:5031",
        "name": "heterogeneous nuclear ribonucleoprotein A1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hnrnpa1"
      },
      {
        "slug": "lrp12",
        "symbol": "LRP12",
        "hgnc": "HGNC:31708",
        "name": "LDL receptor related protein 12",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lrp12"
      },
      {
        "slug": "matr3",
        "symbol": "MATR3",
        "hgnc": "HGNC:6912",
        "name": "matrin 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/matr3"
      },
      {
        "slug": "nefh",
        "symbol": "NEFH",
        "hgnc": "HGNC:7737",
        "name": "neurofilament heavy chain",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nefh"
      },
      {
        "slug": "nek1",
        "symbol": "NEK1",
        "hgnc": "HGNC:7744",
        "name": "NIMA related kinase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nek1"
      },
      {
        "slug": "optn",
        "symbol": "OPTN",
        "hgnc": "HGNC:17142",
        "name": "optineurin",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/optn"
      },
      {
        "slug": "pfn1",
        "symbol": "PFN1",
        "hgnc": "HGNC:8881",
        "name": "profilin 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pfn1"
      },
      {
        "slug": "prph",
        "symbol": "PRPH",
        "hgnc": "HGNC:9461",
        "name": "peripherin",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prph"
      },
      {
        "slug": "selenon",
        "symbol": "SELENON",
        "hgnc": "HGNC:15999",
        "name": "selenoprotein N",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/selenon"
      },
      {
        "slug": "sod1",
        "symbol": "SOD1",
        "hgnc": "HGNC:11179",
        "name": "superoxide dismutase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sod1"
      },
      {
        "slug": "sqstm1",
        "symbol": "SQSTM1",
        "hgnc": "HGNC:11280",
        "name": "sequestosome 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sqstm1"
      },
      {
        "slug": "taf15",
        "symbol": "TAF15",
        "hgnc": "HGNC:11547",
        "name": "TATA-box binding protein associated factor 15",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/taf15"
      },
      {
        "slug": "tardbp",
        "symbol": "TARDBP",
        "hgnc": "HGNC:11571",
        "name": "TAR DNA binding protein",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tardbp"
      },
      {
        "slug": "tbk1",
        "symbol": "TBK1",
        "hgnc": "HGNC:11584",
        "name": "TANK binding kinase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbk1"
      },
      {
        "slug": "trem2",
        "symbol": "TREM2",
        "hgnc": "HGNC:17761",
        "name": "triggering receptor expressed on myeloid cells 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trem2"
      },
      {
        "slug": "ubqln2",
        "symbol": "UBQLN2",
        "hgnc": "HGNC:12509",
        "name": "ubiquilin 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ubqln2"
      },
      {
        "slug": "unc13a",
        "symbol": "UNC13A",
        "hgnc": "HGNC:23150",
        "name": "unc-13 homolog A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/unc13a"
      },
      {
        "slug": "vapb",
        "symbol": "VAPB",
        "hgnc": "HGNC:12649",
        "name": "VAMP associated protein B and C",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vapb"
      },
      {
        "slug": "vcp",
        "symbol": "VCP",
        "hgnc": "HGNC:12666",
        "name": "valosin containing protein",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vcp"
      },
      {
        "slug": "akt1",
        "symbol": "AKT1",
        "hgnc": "HGNC:391",
        "name": "AKT serine/threonine kinase 1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/akt1"
      },
      {
        "slug": "bap1",
        "symbol": "BAP1",
        "hgnc": "HGNC:950",
        "name": "BRCA1 associated deubiquitinase 1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bap1"
      },
      {
        "slug": "nf2",
        "symbol": "NF2",
        "hgnc": "HGNC:7773",
        "name": "NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nf2"
      },
      {
        "slug": "pdgfb",
        "symbol": "PDGFB",
        "hgnc": "HGNC:8800",
        "name": "platelet derived growth factor subunit B",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pdgfb"
      },
      {
        "slug": "pik3ca",
        "symbol": "PIK3CA",
        "hgnc": "HGNC:8975",
        "name": "phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pik3ca"
      },
      {
        "slug": "smarcb1",
        "symbol": "SMARCB1",
        "hgnc": "HGNC:11103",
        "name": "SWI/SNF related BAF chromatin remodeling complex subunit B1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/smarcb1"
      },
      {
        "slug": "smarce1",
        "symbol": "SMARCE1",
        "hgnc": "HGNC:11109",
        "name": "SWI/SNF related BAF chromatin remodeling complex subunit E1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/smarce1"
      },
      {
        "slug": "smo",
        "symbol": "SMO",
        "hgnc": "HGNC:11119",
        "name": "smoothened, frizzled class receptor",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/smo"
      },
      {
        "slug": "sufu",
        "symbol": "SUFU",
        "hgnc": "HGNC:16466",
        "name": "SUFU negative regulator of hedgehog signaling",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sufu"
      },
      {
        "slug": "tert",
        "symbol": "TERT",
        "hgnc": "HGNC:11730",
        "name": "telomerase reverse transcriptase",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tert"
      },
      {
        "slug": "traf7",
        "symbol": "TRAF7",
        "hgnc": "HGNC:20456",
        "name": "TNF receptor associated factor 7",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/traf7"
      }
    ]
  }
}