| Disease ID | Disease name | Source of annotation with COL3A1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 130020 | EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE | ClinVar, HUMSAVAR | link to OMIM | 3 | TNXB, NOTCH1, COL3A1 |
| 130050 | EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | COL3A1 |
| 154700 | MARFAN SYNDROME | ClinVar | link to OMIM | 8 | NOTCH1, LTBP2, FBN2, FBN1, COL5A1, COL5A2, MYH11, COL3A1 |
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 |
|---|---|---|
| Integrin cell surface interactions | R-HSA-216083 | 6.57 |
| Scavenging by Class A Receptors | R-HSA-3000480 | 8.73 |
| NCAM signaling for neurite out-growth | R-HSA-375165 | 4.9 |
| Assembly of collagen fibrils and other multimeric structures | R-HSA-2022090 | 7.2 |
| Degradation of the extracellular matrix | R-HSA-1474228 | 6.11 |
| Collagen degradation | R-HSA-1442490 | 7.03 |
| ECM proteoglycans | R-HSA-3000178 | 6.75 |
| Signaling by PDGF | R-HSA-186797 | 4.53 |
| 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 |
| Collagen biosynthesis and modifying enzymes | R-HSA-1650814 | 6.98 |
| Syndecan interactions | R-HSA-3000170 | 8.23 |
| Non-integrin membrane-ECM interactions | R-HSA-3000171 | 7.1 |
| Axon guidance | R-HSA-422475 | 3.93 |
| Binding and Uptake of Ligands by Scavenger Receptors | R-HSA-2173782 | 5.38 |
| Developmental Biology | R-HSA-1266738 | 3.48 |
| Vesicle-mediated transport | R-HSA-5653656 | 4.33 |
| GO term | GO ID | GO IC |
|---|---|---|
| cation binding | GO:0043169 | 1.4 |
| extracellular matrix structural constituent | GO:0005201 | 5.37 |
| metal ion binding | GO:0046872 | 1.41 |
| integrin binding | GO:0005178 | 5.07 |
| growth factor binding | GO:0019838 | 4.89 |
| ion binding | GO:0043167 | 1.36 |
| SMAD binding | GO:0046332 | 5.45 |
| cell adhesion molecule binding | GO:0050839 | 4.5 |
| macromolecular complex binding | GO:0044877 | 2.61 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| protein complex binding | GO:0032403 | 3.09 |
| platelet-derived growth factor binding | GO:0048407 | 7.34 |
| receptor binding | GO:0005102 | 2.43 |
| structural molecule activity | GO:0005198 | 3.1 |