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familial adenomatous polyposis 1
Summary
- Definition
- A familial adenomatous polyposis that has_material_basis_in heterozygous mutation in the APC gene on chromosome 5q22.
- Super Class
- autosomal dominant disease familial adenomatous polyposis
External Links
- Disease Ontology
- DOID:0080409
- Mondo Disease Ontology
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 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 | |
| 5319 | PLA2G1B | phospholipase A2 group IB | |
| 5320 | PLA2G2A | phospholipase A2 group IIA | |
| 5321 | PLA2G4A | phospholipase A2 group IVA | |
| 5336 | PLCG2 | phospholipase C gamma 2 | |
| 5563 | PRKAA2 | protein kinase AMP-activated catalytic subunit alpha 2 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P08236 | Beta-glucuronidase | |
| P08758 | Annexin A5 | |
| P09622 | Dihydrolipoyl dehydrogenase, mitochondrial | |
| P09848 | Lactase/phlorizin hydrolase | |
| P09874 | Poly [ADP-ribose] polymerase 1 | |
| P11413 | Glucose-6-phosphate 1-dehydrogenase | |
| P14555 | Phospholipase A2, membrane associated | |
| P16070 | CD44 antigen | |
| P16152 | Carbonyl reductase [NADPH] 1 | |
| P16278 | Beta-galactosidase |
