| Disease ID | Disease name | Source of annotation with VHL | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 193300 | VON HIPPEL-LINDAU SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 2 | VHL, CCND1 |
| 144700 | RENAL CELL CARCINOMA, NONPAPILLARY | OMIM, HUMSAVAR | link to OMIM | 7 | VHL, DIRC2, RNF139, HNF1A, OGG1, HNF1B, FLCN |
| 171300 | PHEOCHROMOCYTOMA | OMIM, HUMSAVAR | link to OMIM | 8 | VHL, GDNF, SDHB, KIF1B, RET, MAX, TMEM127, SDHD |
| PS133100 | ERYTHROCYTOSIS, FAMILIAL | ClinVar, OMIM, HUMSAVAR | link to OMIM | 6 | VHL, EPAS1, JAK2, SH2B3, EPOR, EGLN1 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| HIF-1 signaling pathway | hsa04066 | 5.9 |
| Renal cell carcinoma | hsa05211 | 6.6 |
| Pathways in cancer | hsa05200 | 3.98 |
| Ubiquitin mediated proteolysis | hsa04120 | 5.63 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Cellular response to hypoxia | R-HSA-2262749 | 8.4 |
| Immune System | R-HSA-168256 | 2.37 |
| Cellular responses to stress | R-HSA-2262752 | 4.56 |
| Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha | R-HSA-1234176 | 8.89 |
| Class I MHC mediated antigen processing & presentation | R-HSA-983169 | 4.65 |
| Antigen processing: Ubiquitination & Proteasome degradation | R-HSA-983168 | 5.19 |
| Regulation of Hypoxia-inducible Factor (HIF) by oxygen | R-HSA-1234174 | 8.4 |
| Adaptive Immune System | R-HSA-1280218 | 3.19 |
| GO term | GO ID | GO IC |
|---|---|---|
| ubiquitin-like protein transferase activity | GO:0019787 | 3.69 |
| ubiquitin protein ligase activity | GO:0061630 | 4.47 |
| transcription factor binding | GO:0008134 | 3.46 |
| enzyme binding | GO:0019899 | 2.27 |
| catalytic activity | GO:0003824 | 1.05 |
| transferase activity | GO:0016740 | 1.95 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| ubiquitin-protein transferase activity | GO:0004842 | 3.73 |
| ubiquitin-like protein ligase activity | GO:0061659 | 4.44 |