| Disease ID | Disease name | Source of annotation with OCLN | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 251290 | BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | OCLN |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Tight junction | hsa04530 | 5.53 |
| Cell adhesion molecules (CAMs) | hsa04514 | 5.36 |
| Leukocyte transendothelial migration | hsa04670 | 5.74 |
| Hepatitis C | hsa05160 | 5.68 |
| Pathogenic Escherichia coli infection | hsa05130 | 6.99 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Apoptotic cleavage of cellular proteins | R-HSA-111465 | 7.73 |
| Apoptotic execution phase | R-HSA-75153 | 7.28 |
| Apoptotic cleavage of cell adhesion proteins | R-HSA-351906 | 9.52 |
| Programmed Cell Death | R-HSA-5357801 | 5.65 |
| Apoptosis | R-HSA-109581 | 5.68 |
| GO term | GO ID | GO IC |
|---|---|---|
| S-adenosylmethionine-dependent methyltransferase activity | GO:0008757 | 4.81 |
| S-methyltransferase activity | GO:0008172 | 7.66 |
| catalytic activity | GO:0003824 | 1.05 |
| transferase activity | GO:0016740 | 1.95 |
| transferase activity, transferring one-carbon groups | GO:0016741 | 4.3 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| thiopurine S-methyltransferase activity | GO:0008119 | 9.05 |
| methyltransferase activity | GO:0008168 | 4.35 |
| protein domain specific binding | GO:0019904 | 3.32 |