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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
distal arthrogryposis
Summary
- Synonym
-
- Arthrogryposis Multiplex Congenita
- Definition
- A muscle tissue disease characterized by congenital joint contractures of hand and feet.
- Super Class
- muscle tissue disease
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 5291 | PIK3CB | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | |
| 5293 | PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | |
| 5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | |
| 5311 | PKD2 | polycystin 2, transient receptor potential cation channel | |
| 5315 | PKM | pyruvate kinase M1/2 | |
| 5321 | PLA2G4A | phospholipase A2 group IVA | |
| 5716 | PSMD10 | proteasome 26S subunit, non-ATPase 10 | |
| 5728 | PTEN | phosphatase and tensin homolog | |
| 5743 | PTGS2 | prostaglandin-endoperoxide synthase 2 | |
| 6342 | SCP2 | sterol carrier protein 2 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8NCC3 | Lysosomal phospholipase A and acyltransferase | |
| Q8NCH0 | Carbohydrate sulfotransferase 14 | |
| Q92562 | Polyphosphoinositide phosphatase | |
| Q9NR19 | Acetyl-coenzyme A synthetase, cytoplasmic | |
| Q9P232 | Contactin-3 |
