| Disease ID | Disease name | Source of annotation with COL11A1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS228520 | FIBROCHONDROGENESIS | ClinVar, OMIM, HUMSAVAR | link to OMIM | 2 | COL11A2, COL11A1 |
| PS108300 | STICKLER SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 5 | COL11A2, COL11A1, COL2A1, COL9A2, COL9A1 |
| 154780 | MARSHALL SYNDROME | ClinVar, OMIM | link to OMIM | 1 | COL11A1 |
| 603932 | INTERVERTEBRAL DISC DISEASE | OMIM | link to OMIM | 6 | ASPN, COL9A3, COL11A1, CILP, COL9A2, THBS2 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Platelet activation | hsa04611 | 5.66 |
| Protein digestion and absorption | hsa04974 | 6.2 |
| Amoebiasis | hsa05146 | 5.82 |
| Focal adhesion | hsa04510 | 4.92 |
| ECM-receptor interaction | hsa04512 | 6.09 |
| PI3K-Akt signaling pathway | hsa04151 | 4.21 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Degradation of the extracellular matrix | R-HSA-1474228 | 6.11 |
| Collagen degradation | R-HSA-1442490 | 7.03 |
| Extracellular matrix organization | R-HSA-1474244 | 4.91 |
| Collagen formation | R-HSA-1474290 | 6.56 |
| Non-integrin membrane-ECM interactions | R-HSA-3000171 | 7.1 |
| 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 |
| protein binding, bridging | GO:0030674 | 4.68 |
| metal ion binding | GO:0046872 | 1.41 |
| extracellular matrix binding | GO:0050840 | 5.79 |
| extracellular matrix structural constituent | GO:0005201 | 5.37 |
| ion binding | GO:0043167 | 1.36 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| structural molecule activity | GO:0005198 | 3.1 |
| binding, bridging | GO:0060090 | 4.57 |