Osteofibrous dysplasia: genes and variants
Osteofibrous dysplasia is linked to 1 analyzed protein (MET). 1 DNA variants are known to cause it; 48 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Osteofibrous dysplasia
MET: Hepatocyte growth factor receptor
Hepatocyte-growth-factor signaling through this pathway promotes cell survival, proliferation, motility, and invasive growth during development and tissue repair. Exon 14 skipping, amplification, activating mutations, or fusions can drive cancer and create actionable therapeutic dependencies.
1 disease-causing and 48 uncertain variants in MET are linked to Osteofibrous dysplasia.
Known disease-causing variants in Osteofibrous dysplasia
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| MET H1094R | 1094 | Protein kinase | Disease-causing (★★) |
Same protein, different disease
- Renal cell carcinoma is also caused by MET variants; they fall mostly in different places as the Osteofibrous dysplasia variants (4 disease-causing).
Diseases related to Osteofibrous dysplasia
- Autosomal recessive nonsyndromic hearing loss 4, also linked to MET
- Non-small cell lung carcinoma, also linked to MET
- Hepatocellular carcinoma, also linked to MET
- Renal cell carcinoma, also linked to MET
- Papillary renal cell carcinoma, also linked to MET
- Arthrogryposis, distal, IIa 11, also linked to MET
- Hereditary papillary renal cell carcinoma, also linked to MET
Frequently asked questions
Which genes are linked to Osteofibrous dysplasia?
In CATVariant, Osteofibrous dysplasia is linked to 1 analyzed protein: MET (Hepatocyte growth factor receptor).
How many genetic variants are linked to Osteofibrous dysplasia?
50 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 48 are of uncertain significance or have conflicting reports.
Which uncertain variants in Osteofibrous dysplasia look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis 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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