Pyogenic arthritis - pyoderma gangrenosum - acne: genes and variants
Explore variant evidence for Pyogenic arthritis - pyoderma gangrenosum - acne across 1 analyzed protein (PSTPIP1). Linked ClinVar records include 3 pathogenic or likely pathogenic variants, 218 variants of uncertain significance and 17 with conflicting classifications.
Coverage includes proteins already analyzed in CATVariant, not every gene involved in this condition. Database links are associations, not an assessment of clinical gene–disease validity. Computable evidence prioritizes variants for expert review and does not reclassify them. Source labels are pooled across this disease family.
Data updated 2026-10-10. Automated aggregation, not a clinical review date.
Download variant evidence (CSV)
Genes linked to Pyogenic arthritis - pyoderma gangrenosum - acne
PSTPIP1: Proline-serine-threonine phosphatase-interacting protein 1
It organizes cytoskeletal and inflammasome-associated protein interactions in myeloid cells and can influence pyrin-dependent inflammatory signaling. Gain-of-function variants cause PAPA syndrome and related PSTPIP1-associated autoinflammatory diseases with sterile arthritis and inflammatory skin lesions.
3 ClinVar pathogenic / likely pathogenic and 235 uncertain variants in PSTPIP1 have source records linked to Pyogenic arthritis - pyoderma gangrenosum - acne. Association strength is not clinical gene validity.
ClinVar pathogenic and likely pathogenic variants linked to Pyogenic arthritis - pyoderma gangrenosum - acne
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| PSTPIP1 E250K | 250 | F-BAR | Pathogenic / likely pathogenic (★★) |
| PSTPIP1 A230T | 230 | F-BAR | Pathogenic / likely pathogenic (★★) |
| PSTPIP1 E250Q | 250 | F-BAR | Pathogenic / likely pathogenic (★) |
Diseases related to Pyogenic arthritis - pyoderma gangrenosum - acne
- Autoinflammatory syndrome, also linked to PSTPIP1
Frequently asked questions
Which genes have records linked to Pyogenic arthritis - pyoderma gangrenosum - acne?
This view contains 1 analyzed proteins: PSTPIP1. Links come from clinical records and association databases. They do not imply that every listed gene is a validated cause, and missing genes may not yet be analyzed.
What do the clinical classifications mean?
Linked records include 3 pathogenic or likely pathogenic variants, 218 variants of uncertain significance and 17 with conflicting classifications. Labels summarize source records; multi-condition records may not make a separate assertion for this disease. Check the original record and review status.
Does the evidence score change a VUS classification?
No. 0 VUS or conflicting variants reach the likely-pathogenic points range on the computable criteria available here. This is a research prioritization signal, not a clinical classification. Patient, family and other required evidence may be missing.
Can I download the variant evidence?
Download the CSV for all 257 variants in the selected disease scope, including clinical labels, review status, evidence criteria, predictor scores, functional measurements and population frequency where available.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from eligible public CATVariant analyses of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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