| Disease ID | Disease name | Source of annotation with USP9X | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS309530 | MENTAL RETARDATION, NONSYNDROMIC, X-LINKED | ClinVar, OMIM, HUMSAVAR | link to OMIM | 25 | THOC2, HCFC1, RPS6KA3, USP9X, MID2, RAB39B, KIAA2022, ZNF81, PAK3, IQSEC2, DLG3, TSPAN7, ZDHHC15, ZNF711, KIF4A, ACSL4, BRWD3, IL1RAPL1, GDI1, SYP, ARHGEF6, ARX, DDX3X, GRIA3, FTSJ1 |
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| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Generic Transcription Pathway | R-HSA-212436 | 3.86 |
| Gene Expression | R-HSA-74160 | 2.72 |
| Signaling by TGF-beta Receptor Complex | R-HSA-170834 | 6.81 |
| Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer | R-HSA-2173793 | 7.56 |
| Downregulation of SMAD2/3:SMAD4 transcriptional activity | R-HSA-2173795 | 8.46 |
| Signal Transduction | R-HSA-162582 | 1.78 |
| GO term | GO ID | GO IC |
|---|---|---|
| hydrolase activity | GO:0016787 | 1.9 |
| endopeptidase activity | GO:0004175 | 3.63 |
| ubiquitin-like protein-specific protease activity | GO:0019783 | 4.97 |
| co-SMAD binding | GO:0070410 | 7.25 |
| ubiquitinyl hydrolase activity | GO:0101005 | 5.07 |
| thiol-dependent ubiquitin-specific protease activity | GO:0004843 | 5.43 |
| SMAD binding | GO:0046332 | 5.45 |
| catalytic activity | GO:0003824 | 1.05 |
| cysteine-type endopeptidase activity | GO:0004197 | 5.28 |
| cysteine-type peptidase activity | GO:0008234 | 4.51 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| peptidase activity, acting on L-amino acid peptides | GO:0070011 | 3.26 |
| peptidase activity | GO:0008233 | 3.23 |
| thiol-dependent ubiquitinyl hydrolase activity | GO:0036459 | 5.07 |