| Disease ID | Disease name | Source of annotation with MMP20 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS104500 | AMELOGENESIS IMPERFECTA | ClinVar, OMIM | link to OMIM | 12 | C4orf26, AMELX, MMP20, SLC24A4, DLX3, FAM83H, ITGB6, FAM20A, WDR72, KLK4, LAMB3, ENAM |
Download the gene annotation in CSV format
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Assembly of collagen fibrils and other multimeric structures | R-HSA-2022090 | 7.2 |
| Extracellular matrix organization | R-HSA-1474244 | 4.91 |
| Collagen formation | R-HSA-1474290 | 6.56 |
| Degradation of the extracellular matrix | R-HSA-1474228 | 6.11 |
| Collagen degradation | R-HSA-1442490 | 7.03 |
| GO term | GO ID | GO IC |
|---|---|---|
| hydrolase activity | GO:0016787 | 1.9 |
| endopeptidase activity | GO:0004175 | 3.63 |
| metalloendopeptidase activity | GO:0004222 | 5.02 |
| transition metal ion binding | GO:0046914 | 2.48 |
| serine hydrolase activity | GO:0017171 | 4.26 |
| metal ion binding | GO:0046872 | 1.41 |
| zinc ion binding | GO:0008270 | 2.66 |
| cation binding | GO:0043169 | 1.4 |
| ion binding | GO:0043167 | 1.36 |
| catalytic activity | GO:0003824 | 1.05 |
| peptidase activity, acting on L-amino acid peptides | GO:0070011 | 3.26 |
| calcium ion binding | GO:0005509 | 3.17 |
| protein binding | GO:0005515 | 0.46 |
| serine-type endopeptidase activity | GO:0004252 | 4.4 |
| peptidase activity | GO:0008233 | 3.23 |
| serine-type peptidase activity | GO:0008236 | 4.27 |
| metallopeptidase activity | GO:0008237 | 4.5 |
| binding | GO:0005488 | 0.18 |