| Disease ID | Disease name | Source of annotation with DSPP | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 125500 | DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | DSPP |
| 605594 | DEAFNESS, AUTOSOMAL DOMINANT 39, WITH DENTINOGENESIS IMPERFECTA 1 | OMIM, HUMSAVAR | link to OMIM | 1 | DSPP |
| 125420 | DENTIN DYSPLASIA, TYPE II | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | DSPP |
| 125490 | DENTINOGENESIS IMPERFECTA 1 | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | DSPP |
Download the gene annotation in CSV format
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| ECM proteoglycans | R-HSA-3000178 | 6.75 |
| Extracellular matrix organization | R-HSA-1474244 | 4.91 |
| 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 |
| transporter activity | GO:0005215 | 2.57 |
| collagen binding | GO:0005518 | 5.58 |
| ion binding | GO:0043167 | 1.36 |
| 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 |
| structural molecule activity | GO:0005198 | 3.1 |
| calcium ion binding | GO:0005509 | 3.17 |