| Disease ID | Disease name | Source of annotation with HUWE1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS309510 | MENTAL RETARDATION, X-LINKED SYNDROMIC | ClinVar, OMIM, HUMSAVAR | link to OMIM | 27 | AP1S2, PRPS1, IGBP1, RBMX, HUWE1, RAB40AL, HSD17B10, ATP6AP2, PHF8, CLIC2, CASK, TAF1, FGD1, CUL4B, PQBP1, ZDHHC9, NONO, UPF3B, SMS, HDAC8, UBE2A, MECP2, KDM5C, ARX, SLC9A6, GRIA3, PHF6 |
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 |
|---|---|---|
| Class I MHC mediated antigen processing & presentation | R-HSA-983169 | 4.65 |
| Antigen processing: Ubiquitination & Proteasome degradation | R-HSA-983168 | 5.19 |
| Immune System | R-HSA-168256 | 2.37 |
| Adaptive Immune System | R-HSA-1280218 | 3.19 |
| GO term | GO ID | GO IC |
|---|---|---|
| ubiquitin-like protein transferase activity | GO:0019787 | 3.69 |
| nucleic acid binding | GO:0003676 | 1.44 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| poly(A) RNA binding | GO:0044822 | 2.69 |
| catalytic activity | GO:0003824 | 1.05 |
| transferase activity | GO:0016740 | 1.95 |
| ubiquitin-protein transferase activity | GO:0004842 | 3.73 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| DNA binding | GO:0003677 | 1.92 |
| ligase activity | GO:0016874 | 3.72 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| RNA binding | GO:0003723 | 2.36 |