Trait
Disease of the joints
Clinical name: Arthropathy
Summary
- Body system
- Abnormality of the musculoskeletal system
Reference genomeGRCh38hg38
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Get my Genome Test22 genes linked to Disease of the joints
Changes in these genes cause rare conditions in which Disease of the joints 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 |
|---|---|---|
| ANKHANKH inorganic pyrophosphate transport regulator | Always | In 1 condition |
| COL2A1collagen type II alpha 1 chain | Always | In 2 conditions |
| IL6STinterleukin 6 cytokine family signal transducer | Always | In 1 condition |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Always | In 1 condition |
| MMP14matrix metallopeptidase 14 | Very often (80–99%) | In 2 conditions |
| MMP2matrix metallopeptidase 2 | Very often (80–99%) | In 1 condition |
| BMP6bone morphogenetic protein 6 | Often (30–79%) | In 1 condition |
| DNASE2deoxyribonuclease 2, lysosomal | Often (30–79%) | In 1 condition |
| HAMPhepcidin antimicrobial peptide | Often (30–79%) | In 1 condition |
| HFEhomeostatic iron regulator | Often (30–79%) | In 2 conditions |
| HJVhemojuvelin BMP co-receptor | Often (30–79%) | In 1 condition |
| NGFnerve growth factor | Often (30–79%) | In 1 condition |
| F8coagulation factor VIII | Sometimes (5–29%) | In 1 condition |
| ALPLalkaline phosphatase, biomineralization associated | Not recorded | In 1 condition |
| BMP2bone morphogenetic protein 2 | Not recorded | In 1 condition |
| CCN6cellular communication network factor 6 | Not recorded | In 1 condition |
| CHST3carbohydrate sulfotransferase 3 | Not recorded | In 1 condition |
| COL11A1collagen type XI alpha 1 chain | Not recorded | In 1 condition |
| HGDhomogentisate 1,2-dioxygenase | Not recorded | In 1 condition |
| HPGD15-hydroxyprostaglandin dehydrogenase | Not recorded | In 1 condition |
| PRG4proteoglycan 4 | Not recorded | In 1 condition |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | 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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