| Disease ID | Disease name | Source of annotation with SQSTM1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS105400 | AMYOTROPHIC LATERAL SCLEROSIS | ClinVar, OMIM, HUMSAVAR | link to OMIM | 27 | CHCHD10, FIG4, ERBB4, SQSTM1, ATXN2, UBQLN2, DCTN1, FUS, NEFH, PFN1, VAPB, MATR3, ALS2, TBK1, SPG11, TARDBP, TUBA4A, SIGMAR1, SOD1, CHMP2B, PRPH, ANG, VCP, OPTN, C9orf72, HNRNPA1, SETX |
| PS167250 | PAGET DISEASE OF BONE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 4 | TNFRSF11A, SQSTM1, TNFRSF11B, ZNF687 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Osteoclast differentiation | hsa04380 | 5.64 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| p75 NTR receptor-mediated signalling | R-HSA-193704 | 6.59 |
| Signalling by NGF | R-HSA-166520 | 4.23 |
| Signaling by Interleukins | R-HSA-449147 | 4.71 |
| Immune System | R-HSA-168256 | 2.37 |
| p75NTR signals via NF-kB | R-HSA-193639 | 8.98 |
| Cytokine Signaling in Immune system | R-HSA-1280215 | 3.74 |
| NRIF signals cell death from the nucleus | R-HSA-205043 | 9.08 |
| p75NTR recruits signalling complexes | R-HSA-209543 | 9.28 |
| Cell death signalling via NRAGE, NRIF and NADE | R-HSA-204998 | 7.05 |
| NF-kB is activated and signals survival | R-HSA-209560 | 9.28 |
| Signal Transduction | R-HSA-162582 | 1.78 |
| Interleukin-1 signaling | R-HSA-446652 | 7.52 |
| GO term | GO ID | GO IC |
|---|---|---|
| ubiquitin-like protein ligase binding | GO:0044389 | 4.15 |
| protein kinase C binding | GO:0005080 | 5.83 |
| enzyme binding | GO:0019899 | 2.27 |
| binding | GO:0005488 | 0.18 |
| polyubiquitin binding | GO:0031593 | 5.98 |
| cation binding | GO:0043169 | 1.4 |
| transition metal ion binding | GO:0046914 | 2.48 |
| receptor tyrosine kinase binding | GO:0030971 | 5.77 |
| ion binding | GO:0043167 | 1.36 |
| protein serine/threonine kinase activity | GO:0004674 | 3.64 |
| transferase activity | GO:0016740 | 1.95 |
| protein kinase activity | GO:0004672 | 3.27 |
| K63-linked polyubiquitin binding | GO:0070530 | 6.79 |
| metal ion binding | GO:0046872 | 1.41 |
| protein tyrosine kinase binding | GO:1990782 | 5.7 |
| identical protein binding | GO:0042802 | 2.63 |
| protein homodimerization activity | GO:0042803 | 3.16 |
| SH2 domain binding | GO:0042169 | 6.34 |
| kinase activity | GO:0016301 | 2.93 |
| protein kinase binding | GO:0019901 | 3.44 |
| kinase binding | GO:0019900 | 3.32 |
| protein domain specific binding | GO:0019904 | 3.32 |
| protein dimerization activity | GO:0046983 | 2.72 |
| ubiquitin protein ligase binding | GO:0031625 | 4.17 |
| catalytic activity | GO:0003824 | 1.05 |
| phosphotransferase activity, alcohol group as acceptor | GO:0016773 | 3.08 |
| transferase activity, transferring phosphorus-containing groups | GO:0016772 | 2.77 |
| ubiquitin-like protein binding | GO:0032182 | 4.93 |
| ubiquitin binding | GO:0043130 | 5.09 |
| protein binding | GO:0005515 | 0.46 |
| receptor binding | GO:0005102 | 2.43 |
| zinc ion binding | GO:0008270 | 2.66 |