Arthrogryposis, distal, IIa 11: genes and variants
Arthrogryposis, distal, IIa 11 is linked to 1 analyzed protein (MET). 1 DNA variants are known to cause it; 19 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: Arthrogryposis, distal, type 1A
Genes linked to Arthrogryposis, distal, IIa 11
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 19 uncertain variants in MET are linked to Arthrogryposis, distal, IIa 11.
Known disease-causing variants in Arthrogryposis, distal, IIa 11
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| MET Y1234C | 1234 | 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 Arthrogryposis, distal, IIa 11 variants (4 disease-causing).
Diseases related to Arthrogryposis, distal, IIa 11
- 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
- Osteofibrous dysplasia, also linked to MET
- Hereditary papillary renal cell carcinoma, also linked to MET
Frequently asked questions
Which genes are linked to Arthrogryposis, distal, IIa 11?
In CATVariant, Arthrogryposis, distal, IIa 11 is linked to 1 analyzed protein: MET (Hepatocyte growth factor receptor).
How many genetic variants are linked to Arthrogryposis, distal, IIa 11?
20 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 19 are of uncertain significance or have conflicting reports.
Which uncertain variants in Arthrogryposis, distal, IIa 11 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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