| Disease ID | Disease name | Source of annotation with PPIB | 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 |
Download the gene annotation in CSV format
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Collagen biosynthesis and modifying enzymes | R-HSA-1650814 | 6.98 |
| Extracellular matrix organization | R-HSA-1474244 | 4.91 |
| Collagen formation | R-HSA-1474290 | 6.56 |
| GO term | GO ID | GO IC |
|---|---|---|
| RNA polymerase binding | GO:0070063 | 6.15 |
| protein binding | GO:0005515 | 0.46 |
| peptide binding | GO:0042277 | 4.22 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| poly(A) RNA binding | GO:0044822 | 2.69 |
| enzyme binding | GO:0019899 | 2.27 |
| cis-trans isomerase activity | GO:0016859 | 5.83 |
| catalytic activity | GO:0003824 | 1.05 |
| unfolded protein binding | GO:0051082 | 5.13 |
| macromolecular complex binding | GO:0044877 | 2.61 |
| binding | GO:0005488 | 0.18 |
| peptidyl-prolyl cis-trans isomerase activity | GO:0003755 | 5.87 |
| amide binding | GO:0033218 | 4.14 |
| protein complex binding | GO:0032403 | 3.09 |
| RNA binding | GO:0003723 | 2.36 |
| collagen binding | GO:0005518 | 5.58 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| nucleic acid binding | GO:0003676 | 1.44 |
| isomerase activity | GO:0016853 | 4.62 |