| Disease ID | Disease name | Source of annotation with COL18A1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 267750 | KNOBLOCH SYNDROME 1 | ClinVar, OMIM | link to OMIM | 2 | ADAMTS18, COL18A1 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Protein digestion and absorption | hsa04974 | 6.2 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Integrin cell surface interactions | R-HSA-216083 | 6.57 |
| Laminin interactions | R-HSA-3000157 | 8.08 |
| Degradation of the extracellular matrix | R-HSA-1474228 | 6.11 |
| Collagen degradation | R-HSA-1442490 | 7.03 |
| Activation of Matrix Metalloproteinases | R-HSA-1592389 | 8.03 |
| Extracellular matrix organization | R-HSA-1474244 | 4.91 |
| Collagen formation | R-HSA-1474290 | 6.56 |
| 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 |
|---|---|---|
| cation binding | GO:0043169 | 1.4 |
| structural molecule activity | GO:0005198 | 3.1 |
| ion binding | GO:0043167 | 1.36 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| metal ion binding | GO:0046872 | 1.41 |
| identical protein binding | GO:0042802 | 2.63 |