Trait
Skin nodule
Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat.
Summary
- Also called
- Growth of abnormal tissue on or under the skin
- Body system
- Abnormality of the integument
Reference genomeGRCh38hg38
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Get my Genome Test15 genes linked to Skin nodule
Changes in these genes cause rare conditions in which Skin nodule 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 |
|---|---|---|
| MEFVMEFV innate immunity regulator, pyrin | Very often (80–99%) | In 1 condition |
| PTPN6protein tyrosine phosphatase non-receptor type 6 | Very often (80–99%) | In 1 condition |
| BTNL2butyrophilin like 2 | Often (30–79%) | In 1 condition |
| GLMNglomulin, FKBP associated protein | Often (30–79%) | In 1 condition |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Often (30–79%) | In 2 conditions |
| KITKIT proto-oncogene, receptor tyrosine kinase | Often (30–79%) | In 1 condition |
| PORCNporcupine O-acyltransferase | Often (30–79%) | In 1 condition |
| BCL2BCL2 apoptosis regulator | Sometimes (5–29%) | In 1 condition |
| BCL6BCL6 transcription repressor | Sometimes (5–29%) | In 1 condition |
| IGHimmunoglobulin heavy locus | Sometimes (5–29%) | In 1 condition |
| PDGFRBplatelet derived growth factor receptor beta | Sometimes (5–29%) | In 1 condition |
| GJB2gap junction protein beta 2 | Rarely (1–4%) | In 1 condition |
| GJB6gap junction protein beta 6 | Rarely (1–4%) | In 1 condition |
| ASAH1N-acylsphingosine amidohydrolase 1 | Not recorded | In 1 condition |
| KIF1Bkinesin family member 1B | 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.
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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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