| Disease ID | Disease name | Source of annotation with COL1A1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 114000 | CAFFEY DISEASE | OMIM, HUMSAVAR | link to OMIM | 1 | COL1A1 |
| 166710 | OSTEOPOROSIS | OMIM | link to OMIM | 7 | COL1A2, CALCR, PDLIM4, COL1A1, WNT1, VDR, LRP5 |
| 130060 | EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT | OMIM | link to OMIM | 3 | COL1A1, COL1A2, ALB |
| 130000 | EHLERS-DANLOS SYNDROME, CLASSIC TYPE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 3 | COL1A1, COL5A1, COL5A2 |
| PS166200 | OSTEOGENESIS IMPERFECTA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 14 | FKBP10, PPIB, WNT1, BMP1, TMEM38B, P3H1, COL1A1, COL1A2, CRTAP, IFITM5, SPARC, SERPINF1, SP7, SERPINH1 |
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 |
| Binding and Uptake of Ligands by Scavenger Receptors | R-HSA-2173782 | 5.38 |
| Scavenging by Class A Receptors | R-HSA-3000480 | 8.73 |
| Platelet activation, signaling and aggregation | R-HSA-76002 | 5.15 |
| Anchoring fibril formation | R-HSA-2214320 | 9.08 |
| Crosslinking of collagen fibrils | R-HSA-2243919 | 9.52 |
| Collagen degradation | R-HSA-1442490 | 7.03 |
| ECM proteoglycans | R-HSA-3000178 | 6.75 |
| Platelet Adhesion to exposed collagen | R-HSA-75892 | 9.08 |
| GPVI-mediated activation cascade | R-HSA-114604 | 7.18 |
| Extracellular matrix organization | R-HSA-1474244 | 4.91 |
| Collagen formation | R-HSA-1474290 | 6.56 |
| 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 |
| Assembly of collagen fibrils and other multimeric structures | R-HSA-2022090 | 7.2 |
| Cell surface interactions at the vascular wall | R-HSA-202733 | 6.32 |
| Hemostasis | R-HSA-109582 | 3.98 |
| Degradation of the extracellular matrix | R-HSA-1474228 | 6.11 |
| 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 |
| growth factor binding | GO:0019838 | 4.89 |
| ion binding | GO:0043167 | 1.36 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| platelet-derived growth factor binding | GO:0048407 | 7.34 |
| structural molecule activity | GO:0005198 | 3.1 |
| identical protein binding | GO:0042802 | 2.63 |