| Disease ID | Disease name | Source of annotation with HERC2 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS227220 | SKIN/HAIR/EYE PIGMENTATION, VARIATION IN | ClinVar, OMIM | link to OMIM | 12 | SLC24A5, KITLG, TYRP1, SLC24A4, ASIP, TPCN2, IRF4, HERC2, TYR, MC1R, SLC45A2, OCA2 |
| PS249500 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 31 | ADAT3, NDST1, GPT2, PIGG, FMN2, TTI2, PGAP1, HNMT, EDC3, NSUN2, KPTN, GRIK2, TAF2, KIAA1033, MED23, PRSS12, FBXO31, LINS1, HERC2, CC2D1A, METTL23, TUSC3, ST3GAL3, TECR, CRADD, MAN1B1, SLC6A17, ANK3, CRBN, TRAPPC9, LMAN2L |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Ubiquitin mediated proteolysis | hsa04120 | 5.63 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| G2/M Checkpoints | R-HSA-69481 | 6.46 |
| SUMO E3 ligases SUMOylate target proteins | R-HSA-3108232 | 6.77 |
| G2/M DNA damage checkpoint | R-HSA-69473 | 7.15 |
| Immune System | R-HSA-168256 | 2.37 |
| Metabolism of proteins | R-HSA-392499 | 3.41 |
| Cell Cycle Checkpoints | R-HSA-69620 | 5.64 |
| Class I MHC mediated antigen processing & presentation | R-HSA-983169 | 4.65 |
| Antigen processing: Ubiquitination & Proteasome degradation | R-HSA-983168 | 5.19 |
| SUMOylation | R-HSA-2990846 | 6.68 |
| SUMOylation of DNA damage response and repair proteins | R-HSA-3108214 | 6.77 |
| Cell Cycle | R-HSA-1640170 | 3.89 |
| Post-translational protein modification | R-HSA-597592 | 4.54 |
| Adaptive Immune System | R-HSA-1280218 | 3.19 |
| GO term | GO ID | GO IC |
|---|---|---|
| ubiquitin-like protein transferase activity | GO:0019787 | 3.69 |
| cation binding | GO:0043169 | 1.4 |
| metal ion binding | GO:0046872 | 1.41 |
| ubiquitin-like protein ligase binding | GO:0044389 | 4.15 |
| transition metal ion binding | GO:0046914 | 2.48 |
| guanyl-nucleotide exchange factor activity | GO:0005085 | 4.02 |
| ubiquitin-like protein binding | GO:0032182 | 4.93 |
| SUMO binding | GO:0032183 | 7.1 |
| enzyme binding | GO:0019899 | 2.27 |
| ion binding | GO:0043167 | 1.36 |
| catalytic activity | GO:0003824 | 1.05 |
| transferase activity | GO:0016740 | 1.95 |
| ubiquitin protein ligase binding | GO:0031625 | 4.17 |
| ubiquitin-protein transferase activity | GO:0004842 | 3.73 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| molecular function regulator | GO:0098772 | 2.51 |
| ligase activity | GO:0016874 | 3.72 |
| zinc ion binding | GO:0008270 | 2.66 |