| Disease ID | Disease name | Source of annotation with COL9A2 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS108300 | STICKLER SYNDROME | OMIM | link to OMIM | 5 | COL11A2, COL11A1, COL2A1, COL9A2, COL9A1 |
| PS132400 | EPIPHYSEAL DYSPLASIA, MULTIPLE | ClinVar, OMIM | link to OMIM | 6 | COMP, COL9A3, MATN3, COL9A2, SLC26A2, COL9A1 |
| 603932 | INTERVERTEBRAL DISC DISEASE | OMIM, HUMSAVAR | link to OMIM | 6 | ASPN, COL9A3, COL11A1, CILP, COL9A2, THBS2 |
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 |
| Degradation of the extracellular matrix | R-HSA-1474228 | 6.11 |
| Collagen degradation | R-HSA-1442490 | 7.03 |
| ECM proteoglycans | R-HSA-3000178 | 6.75 |
| NCAM signaling for neurite out-growth | R-HSA-375165 | 4.9 |
| NCAM1 interactions | R-HSA-419037 | 7.59 |
| Extracellular matrix organization | R-HSA-1474244 | 4.91 |
| Collagen formation | R-HSA-1474290 | 6.56 |
| Signal Transduction | R-HSA-162582 | 1.78 |
| Signaling by PDGF | R-HSA-186797 | 4.53 |
| Collagen biosynthesis and modifying enzymes | R-HSA-1650814 | 6.98 |
| Axon guidance | R-HSA-422475 | 3.93 |
| Developmental Biology | R-HSA-1266738 | 3.48 |
| GO term | GO ID | GO IC |
|---|---|---|
| extracellular matrix structural constituent | GO:0005201 | 5.37 |
| structural molecule activity | GO:0005198 | 3.1 |
| extracellular matrix structural constituent conferring tensile strength | GO:0030020 | 7.95 |