| Disease ID | Disease name | Source of annotation with ITCH | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 613385 | AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM | ClinVar, OMIM | link to OMIM | 1 | ITCH |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| TNF signaling pathway | hsa04668 | 5.96 |
| Endocytosis | hsa04144 | 4.92 |
| Non-alcoholic fatty liver disease (NAFLD) | hsa04932 | 5.51 |
| Ubiquitin mediated proteolysis | hsa04120 | 5.63 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Degradation of GLI1 by the proteasome | R-HSA-5610780 | 7.1 |
| Signaling by NOTCH1 | R-HSA-1980143 | 6.81 |
| Hedgehog 'off' state | R-HSA-5610787 | 6.19 |
| RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways | R-HSA-168928 | 6.7 |
| NOD1/2 Signaling Pathway | R-HSA-168638 | 7.85 |
| Innate Immune System | R-HSA-168249 | 3.17 |
| Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways | R-HSA-168643 | 7.31 |
| Signaling by NOTCH | R-HSA-157118 | 6.2 |
| Class I MHC mediated antigen processing & presentation | R-HSA-983169 | 4.65 |
| Antigen processing: Ubiquitination & Proteasome degradation | R-HSA-983168 | 5.19 |
| Negative regulators of RIG-I/MDA5 signaling | R-HSA-936440 | 7.98 |
| Hedgehog 'on' state | R-HSA-5632684 | 6.62 |
| Signaling by Hedgehog | R-HSA-5358351 | 5.79 |
| Signaling by ERBB4 | R-HSA-1236394 | 4.7 |
| Downregulation of ERBB4 signaling | R-HSA-1253288 | 9.98 |
| Activated NOTCH1 Transmits Signal to the Nucleus | R-HSA-2122948 | 8.08 |
| Adaptive Immune System | R-HSA-1280218 | 3.19 |
| Signal Transduction | R-HSA-162582 | 1.78 |
| Immune System | R-HSA-168256 | 2.37 |
| GO term | GO ID | GO IC |
|---|---|---|
| cytokine receptor binding | GO:0005126 | 4.14 |
| ubiquitin-like protein transferase activity | GO:0019787 | 3.69 |
| chemokine receptor binding | GO:0042379 | 5.7 |
| catalytic activity | GO:0003824 | 1.05 |
| ligase activity | GO:0016874 | 3.72 |
| ubiquitin protein ligase activity | GO:0061630 | 4.47 |
| CXCR chemokine receptor binding | GO:0045236 | 6.97 |
| transferase activity | GO:0016740 | 1.95 |
| macromolecular complex binding | GO:0044877 | 2.61 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| ribonucleoprotein complex binding | GO:0043021 | 5.15 |
| G-protein coupled receptor binding | GO:0001664 | 4.18 |
| receptor binding | GO:0005102 | 2.43 |
| ubiquitin-protein transferase activity | GO:0004842 | 3.73 |
| ubiquitin-like protein ligase activity | GO:0061659 | 4.44 |