| Disease ID | Disease name | Source of annotation with BMP4 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS309800 | MICROPHTHALMIA, SYNDROMIC | ClinVar, OMIM, HUMSAVAR | link to OMIM | 11 | NAA10, BCOR, HCCS, MAB21L2, VAX1, RARB, STRA6, BMP4, HMGB3, OTX2, SOX2 |
| PS119530 | OROFACIAL CLEFT | ClinVar, OMIM, HUMSAVAR | link to OMIM | 6 | TP63, BMP4, IRF6, MSX1, NECTIN1, SUMO1 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| TGF-beta signaling pathway | hsa04350 | 6.41 |
| Signaling pathways regulating pluripotency of stem cells | hsa04550 | 5.6 |
| Hedgehog signaling pathway | hsa04340 | 7.01 |
| Pathways in cancer | hsa05200 | 3.98 |
| Basal cell carcinoma | hsa05217 | 6.79 |
| Hippo signaling pathway | hsa04390 | 5.37 |
| Thyroid hormone signaling pathway | hsa04919 | 5.82 |
| 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 |
|---|---|---|
| sulfur compound binding | GO:1901681 | 4.32 |
| chemoattractant activity | GO:0042056 | 6.48 |
| cytokine receptor binding | GO:0005126 | 4.14 |
| cytokine activity | GO:0005125 | 4.34 |
| growth factor activity | GO:0008083 | 4.66 |
| heparin binding | GO:0008201 | 4.68 |
| receptor serine/threonine kinase binding | GO:0033612 | 7.03 |
| carbohydrate derivative binding | GO:0097367 | 2.03 |
| transforming growth factor beta receptor binding | GO:0005160 | 5.81 |
| BMP receptor binding | GO:0070700 | 7.54 |
| co-receptor binding | GO:0039706 | 7.54 |
| glycosaminoglycan binding | GO:0005539 | 4.42 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| protein dimerization activity | GO:0046983 | 2.72 |
| transmembrane receptor protein serine/threonine kinase binding | GO:0070696 | 7.1 |
| receptor binding | GO:0005102 | 2.43 |
| identical protein binding | GO:0042802 | 2.63 |
| protein homodimerization activity | GO:0042803 | 3.16 |