Trait
Colon perforation
A hole (perforation) in the wall of the colon.
Summary
- Also called
- Perforation of the colon
- Body system
- Abnormality of the digestive system
Reference genomeGRCh38hg38
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Get my Genome Test16 genes linked to Colon perforation
Changes in these genes cause rare conditions in which Colon perforation 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 |
|---|---|---|
| COL3A1collagen type III alpha 1 chain | Often (30–79%) | In 1 condition |
| ABCD1ATP binding cassette subfamily D member 1 | Sometimes (5–29%) | In 1 condition |
| ATP7AATPase copper transporting alpha | Sometimes (5–29%) | In 1 condition |
| ECE1endothelin converting enzyme 1 | Sometimes (5–29%) | In 1 condition |
| EDN3endothelin 3 | Sometimes (5–29%) | In 1 condition |
| EDNRBendothelin receptor type B | Sometimes (5–29%) | In 1 condition |
| ERBB2erb-b2 receptor tyrosine kinase 2 | Sometimes (5–29%) | In 1 condition |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Sometimes (5–29%) | In 1 condition |
| GATA6GATA binding protein 6 | Sometimes (5–29%) | In 1 condition |
| GDNFglial cell derived neurotrophic factor | Sometimes (5–29%) | In 1 condition |
| NRTNneurturin | Sometimes (5–29%) | In 1 condition |
| RETret proto-oncogene | Sometimes (5–29%) | In 1 condition |
| SEMA3Csemaphorin 3C | Sometimes (5–29%) | In 1 condition |
| SEMA3Dsemaphorin 3D | Sometimes (5–29%) | In 1 condition |
| SMOsmoothened, frizzled class receptor | Sometimes (5–29%) | In 1 condition |
| SREBF1sterol regulatory element binding transcription factor 1 | Sometimes (5–29%) | 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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