| Disease ID | Disease name | Source of annotation with ADAMTSL2 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS231050 | GELEOPHYSIC DYSPLASIA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 2 | ADAMTSL2, FBN1 |
Download the gene annotation in CSV format
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Post-translational protein modification | R-HSA-597592 | 4.54 |
| O-glycosylation of TSR domain-containing proteins | R-HSA-5173214 | 7.7 |
| Metabolism of proteins | R-HSA-392499 | 3.41 |
| O-linked glycosylation | R-HSA-5173105 | 6.3 |
| GO term | GO ID | GO IC |
|---|---|---|
| hydrolase activity | GO:0016787 | 1.9 |
| endopeptidase activity | GO:0004175 | 3.63 |
| metalloendopeptidase activity | GO:0004222 | 5.02 |
| transition metal ion binding | GO:0046914 | 2.48 |
| cation binding | GO:0043169 | 1.4 |
| ion binding | GO:0043167 | 1.36 |
| catalytic activity | GO:0003824 | 1.05 |
| peptidase activity, acting on L-amino acid peptides | GO:0070011 | 3.26 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| GO:0050436 | 9.05 | |
| peptidase activity | GO:0008233 | 3.23 |
| metal ion binding | GO:0046872 | 1.41 |
| metallopeptidase activity | GO:0008237 | 4.5 |
| zinc ion binding | GO:0008270 | 2.66 |