Trait
Abnormality on pulmonary function testing
Any anomaly measure by pulmonary function testing, which includes spirometry, measures of diffusing capacity, and plethysmography.
Summary
- Also called
- Abnormal pulmonary function test
- Body system
- Abnormality of the respiratory system
Reference genomeGRCh38hg38
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Get my Genome Test46 genes linked to Abnormality on pulmonary function testing
Changes in these genes cause rare conditions in which Abnormality on pulmonary function testing 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 |
|---|---|---|
| ACTA1actin alpha 1, skeletal muscle | Often (30–79%) | In 1 condition |
| ANGangiogenin | Often (30–79%) | In 1 condition |
| ANXA11annexin A11 | Often (30–79%) | In 1 condition |
| ATXN2ataxin 2 | Often (30–79%) | In 1 condition |
| CCNFcyclin F | Often (30–79%) | In 1 condition |
| CFAP410cilia and flagella associated protein 410 | Often (30–79%) | In 1 condition |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Often (30–79%) | In 1 condition |
| CHMP2Bcharged multivesicular body protein 2B | Often (30–79%) | In 1 condition |
| DAOD-amino acid oxidase | Often (30–79%) | In 1 condition |
| DCTN1dynactin subunit 1 | Often (30–79%) | In 1 condition |
| ERBB4erb-b2 receptor tyrosine kinase 4 | Often (30–79%) | In 1 condition |
| FIG4FIG4 phosphoinositide 5-phosphatase | Often (30–79%) | In 1 condition |
| FUSFUS RNA binding protein | Often (30–79%) | In 1 condition |
| GLE1GLE1 RNA export mediator | Often (30–79%) | In 1 condition |
| GLT8D1glycosyltransferase 8 domain containing 1 | Often (30–79%) | In 1 condition |
| HLA-DPB1major histocompatibility complex, class II, DP beta 1 | Often (30–79%) | In 1 condition |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Often (30–79%) | In 1 condition |
| LRP12LDL receptor related protein 12 | Often (30–79%) | In 1 condition |
| MATR3matrin 3 | Often (30–79%) | In 1 condition |
| NEFHneurofilament heavy chain | Often (30–79%) | In 1 condition |
| NEK1NIMA related kinase 1 | Often (30–79%) | In 1 condition |
| OPTNoptineurin | Often (30–79%) | In 1 condition |
| PFN1profilin 1 | Often (30–79%) | In 1 condition |
| PRPHperipherin | Often (30–79%) | In 1 condition |
| SELENONselenoprotein N | Often (30–79%) | In 1 condition |
| SOD1superoxide dismutase 1 | Often (30–79%) | In 1 condition |
| SQSTM1sequestosome 1 | Often (30–79%) | In 1 condition |
| TAF15TATA-box binding protein associated factor 15 | Often (30–79%) | In 1 condition |
| TARDBPTAR DNA binding protein | Often (30–79%) | In 1 condition |
| TBK1TANK binding kinase 1 | Often (30–79%) | In 1 condition |
| TREM2triggering receptor expressed on myeloid cells 2 | Often (30–79%) | In 1 condition |
| UBQLN2ubiquilin 2 | Often (30–79%) | In 1 condition |
| UNC13Aunc-13 homolog A | Often (30–79%) | In 1 condition |
| VAPBVAMP associated protein B and C | Often (30–79%) | In 1 condition |
| VCPvalosin containing protein | Often (30–79%) | In 1 condition |
| AKT1AKT serine/threonine kinase 1 | Rarely (1–4%) | In 1 condition |
| BAP1BRCA1 associated deubiquitinase 1 | Rarely (1–4%) | In 1 condition |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Rarely (1–4%) | In 1 condition |
| PDGFBplatelet derived growth factor subunit B | Rarely (1–4%) | In 1 condition |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Rarely (1–4%) | In 1 condition |
Show 6 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Rarely (1–4%) | In 1 condition |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Rarely (1–4%) | In 1 condition |
| SMOsmoothened, frizzled class receptor | Rarely (1–4%) | In 1 condition |
| SUFUSUFU negative regulator of hedgehog signaling | Rarely (1–4%) | In 1 condition |
| TERTtelomerase reverse transcriptase | Rarely (1–4%) | In 1 condition |
| TRAF7TNF receptor associated factor 7 | Rarely (1–4%) | 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.
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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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