| Disease ID | Disease name | Source of annotation with OCRL | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 309000 | LOWE OCULOCEREBRORENAL SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | OCRL |
| PS300009 | DENT DISEASE | OMIM, HUMSAVAR | link to OMIM | 2 | OCRL, CLCN5 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Inositol phosphate metabolism | hsa00562 | 6.72 |
| Metabolic pathways | hsa01100 | 2.49 |
| Phosphatidylinositol signaling system | hsa04070 | 6.38 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Synthesis of PIPs at the Golgi membrane | R-HSA-1660514 | 8.81 |
| Inositol phosphate metabolism | R-HSA-1483249 | 7.52 |
| Synthesis of IP3 and IP4 in the cytosol | R-HSA-1855204 | 8.34 |
| Rho GTPase cycle | R-HSA-194840 | 6.04 |
| Signaling by Rho GTPases | R-HSA-194315 | 4.43 |
| PI Metabolism | R-HSA-1483255 | 7.31 |
| Membrane Trafficking | R-HSA-199991 | 5.26 |
| Synthesis of IP2, IP, and Ins in the cytosol | R-HSA-1855183 | 9.52 |
| trans-Golgi Network Vesicle Budding | R-HSA-199992 | 6.85 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Phospholipid metabolism | R-HSA-1483257 | 5.83 |
| Metabolism of lipids and lipoproteins | R-HSA-556833 | 3.79 |
| Golgi Associated Vesicle Biogenesis | R-HSA-432722 | 7.23 |
| Clathrin derived vesicle budding | R-HSA-421837 | 6.85 |
| Signal Transduction | R-HSA-162582 | 1.78 |
| Vesicle-mediated transport | R-HSA-5653656 | 4.33 |
| GO term | GO ID | GO IC |
|---|---|---|
| phosphatase activity | GO:0016791 | 4.11 |
| enzyme binding | GO:0019899 | 2.27 |
| phosphoric ester hydrolase activity | GO:0042578 | 3.82 |
| small GTPase binding | GO:0031267 | 4.13 |
| GTPase binding | GO:0051020 | 4.05 |
| binding | GO:0005488 | 0.18 |
| molecular function regulator | GO:0098772 | 2.51 |
| inositol-1,4,5-trisphosphate 5-phosphatase activity | GO:0052658 | 7.95 |
| inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity | GO:0052659 | 7.54 |
| hydrolase activity | GO:0016787 | 1.9 |
| enzyme regulator activity | GO:0030234 | 2.85 |
| GTPase activator activity | GO:0005096 | 4.11 |
| inositol trisphosphate phosphatase activity | GO:0046030 | 7.34 |
| hydrolase activity, acting on ester bonds | GO:0016788 | 3.1 |
| Ras GTPase binding | GO:0017016 | 4.2 |
| phosphatidylinositol bisphosphate phosphatase activity | GO:0034593 | 6.44 |
| GTPase regulator activity | GO:0030695 | 4.01 |
| Rho GTPase binding | GO:0017048 | 5.36 |
| phosphatidylinositol phosphate 5-phosphatase activity | GO:0034595 | 7.17 |
| nucleoside-triphosphatase regulator activity | GO:0060589 | 3.92 |
| phosphatidylinositol phosphate phosphatase activity | GO:0052866 | 6.34 |
| catalytic activity | GO:0003824 | 1.05 |
| inositol tetrakisphosphate phosphatase activity | GO:0052743 | 7.34 |
| phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity | GO:0004439 | 7.66 |
| inositol phosphate phosphatase activity | GO:0052745 | 6.74 |
| Rac GTPase binding | GO:0048365 | 6.05 |
| protein binding | GO:0005515 | 0.46 |
| enzyme activator activity | GO:0008047 | 3.56 |