| Disease ID | Disease name | Source of annotation with GDF5 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS185800 | PROXIMAL SYMPHALANGISM | ClinVar, OMIM, HUMSAVAR | link to OMIM | 2 | NOG, GDF5 |
| 228900 | FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY | OMIM, HUMSAVAR | link to OMIM | 1 | GDF5 |
| 615072 | BRACHYDACTYLY, TYPE A1, C | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | GDF5 |
| PS186500 | MULTIPLE SYNOSTOSES SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 3 | FGF9, NOG, GDF5 |
| 113100 | BRACHYDACTYLY, TYPE C | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | GDF5 |
| 201250 | ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE | ClinVar, OMIM | link to OMIM | 1 | GDF5 |
| 612400 | OSTEOARTHRITIS SUSCEPTIBILITY 5 | ClinVar, OMIM | link to OMIM | 1 | GDF5 |
| 112600 | BRACHYDACTYLY, TYPE A2 | ClinVar, OMIM, HUMSAVAR | link to OMIM | 3 | BMP2, GDF5, BMPR1B |
| 200700 | CHONDRODYSPLASIA, GREBE TYPE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | GDF5 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| TGF-beta signaling pathway | hsa04350 | 6.41 |
| Hippo signaling pathway | hsa04390 | 5.37 |
| Cytokine-cytokine receptor interaction | hsa04060 | 4.67 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Elastic fibre formation | R-HSA-1566948 | 7.49 |
| Extracellular matrix organization | R-HSA-1474244 | 4.91 |
| Molecules associated with elastic fibres | R-HSA-2129379 | 7.73 |
| GO term | GO ID | GO IC |
|---|---|---|
| cytokine receptor binding | GO:0005126 | 4.14 |
| cytokine activity | GO:0005125 | 4.34 |
| growth factor activity | GO:0008083 | 4.66 |
| transforming growth factor beta receptor binding | GO:0005160 | 5.81 |
| cytokine binding | GO:0019955 | 5.21 |
| BMP binding | GO:0036122 | 7.54 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| receptor binding | GO:0005102 | 2.43 |
| identical protein binding | GO:0042802 | 2.63 |