| Disease ID | Disease name | Source of annotation with BMP1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS166200 | OSTEOGENESIS IMPERFECTA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 14 | FKBP10, SPARC, IFITM5, PPIB, BMP1, TMEM38B, P3H1, COL1A1, COL1A2, CRTAP, WNT1, SERPINF1, SP7, SERPINH1 |
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| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Anchoring fibril formation | R-HSA-2214320 | 9.08 |
| Lipoprotein metabolism | R-HSA-174824 | 8.23 |
| Lipid digestion, mobilization, and transport | R-HSA-73923 | 7.2 |
| Degradation of the extracellular matrix | R-HSA-1474228 | 6.11 |
| Crosslinking of collagen fibrils | R-HSA-2243919 | 9.52 |
| Extracellular matrix organization | R-HSA-1474244 | 4.91 |
| Collagen formation | R-HSA-1474290 | 6.56 |
| HDL-mediated lipid transport | R-HSA-194223 | 9.08 |
| Metabolism of lipids and lipoproteins | R-HSA-556833 | 3.79 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Assembly of collagen fibrils and other multimeric structures | R-HSA-2022090 | 7.2 |
| Collagen biosynthesis and modifying enzymes | R-HSA-1650814 | 6.98 |
| GO term | GO ID | GO IC |
|---|---|---|
| cytokine receptor binding | GO:0005126 | 4.14 |
| serine-type endopeptidase activity | GO:0004252 | 4.4 |
| endopeptidase activity | GO:0004175 | 3.63 |
| transforming growth factor beta receptor binding | GO:0005160 | 5.81 |
| cytokine activity | GO:0005125 | 4.34 |
| zinc ion binding | GO:0008270 | 2.66 |
| peptidase activity | GO:0008233 | 3.23 |
| metallopeptidase activity | GO:0008237 | 4.5 |
| serine-type peptidase activity | GO:0008236 | 4.27 |
| cation binding | GO:0043169 | 1.4 |
| growth factor activity | GO:0008083 | 4.66 |
| transition metal ion binding | GO:0046914 | 2.48 |
| ion binding | GO:0043167 | 1.36 |
| calcium ion binding | GO:0005509 | 3.17 |
| metal ion binding | GO:0046872 | 1.41 |
| hydrolase activity | GO:0016787 | 1.9 |
| metalloendopeptidase activity | GO:0004222 | 5.02 |
| serine hydrolase activity | GO:0017171 | 4.26 |
| catalytic activity | GO:0003824 | 1.05 |
| peptidase activity, acting on L-amino acid peptides | GO:0070011 | 3.26 |
| protein binding | GO:0005515 | 0.46 |
| receptor binding | GO:0005102 | 2.43 |
| binding | GO:0005488 | 0.18 |