| Disease ID | Disease name | Source of annotation with ADAMTSL4 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 225100 | ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE | ClinVar, OMIM | link to OMIM | 1 | ADAMTSL4 |
| 225200 | ECTOPIA LENTIS ET PUPILLAE | ClinVar, OMIM | link to OMIM | 1 | ADAMTSL4 |
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 |
| protease binding | GO:0002020 | 5.08 |
| enzyme binding | GO:0019899 | 2.27 |
| 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 |
| peptidase activity | GO:0008233 | 3.23 |
| metallopeptidase activity | GO:0008237 | 4.5 |