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cherubism
Summary
- Definition
- A bone disease characterized by replacement of bone in the jaws with fibrous tissue leding to facial swelling that has_material_basis_in heterozygous mutation in the SH3BP2 gene on chromosome 4p16.3.
- Super Class
- autosomal dominant disease skin disease
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 176 | ACAN | aggrecan | |
| 353 | APRT | adenine phosphoribosyltransferase | |
| 1634 | DCN | decorin | |
| 2131 | EXT1 | exostosin glycosyltransferase 1 | |
| 2132 | EXT2 | exostosin glycosyltransferase 2 | |
| 2137 | EXTL3 | exostosin like glycosyltransferase 3 | |
| 3417 | IDH1 | isocitrate dehydrogenase (NADP(+)) 1 | |
| 3418 | IDH2 | isocitrate dehydrogenase (NADP(+)) 2 | |
| 5336 | PLCG2 | phospholipase C gamma 2 | |
| 5728 | PTEN | phosphatase and tensin homolog |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q16394 | Exostosin-1 | |
| Q93063 | Exostosin-2 | |
| Q96L58 | Beta-1,3-galactosyltransferase 6 | |
| Q9P2W7 | Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1 | |
| Q9Y251 | Heparanase |
