| Disease ID | Disease name | Source of annotation with HSPB1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS118220 | CHARCOT-MARIE-TOOTH DISEASE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 48 | KARS, FIG4, PRPS1, FGD4, MPZ, KIF1B, NEFL, GJB1, VCP, GDAP1, AIFM1, IGHMBP2, SH3TC2, TRIM2, JPH1, PLEKHG5, NEFH, NAGLU, TRPV4, HARS, HSPB8, HSPB1, PMP22, MED25, SPG11, SBF1, DYNC1H1, SURF1, DNM2, NDRG1, MARS, SBF2, RAB7A, MORC2, AARS, COX6A1, PDK3, DHTKD1, HK1, LMNA, LRSAM1, EGR2, PRX, MTMR2, LITAF, MFN2, YARS, GARS |
| 608634 | NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | HSPB1 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Amoebiasis | hsa05146 | 5.82 |
| Epstein-Barr virus infection | hsa05169 | 4.97 |
| VEGF signaling pathway | hsa04370 | 6.77 |
| MAPK signaling pathway | hsa04010 | 4.63 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| VEGFA-VEGFR2 Pathway | R-HSA-4420097 | 4.7 |
| MAPK family signaling cascades | R-HSA-5683057 | 4.89 |
| AUF1 (hnRNP D0) destabilizes mRNA | R-HSA-450408 | 7.23 |
| Signaling by VEGF | R-HSA-194138 | 4.66 |
| Gene Expression | R-HSA-74160 | 2.72 |
| MAPK6/MAPK4 signaling | R-HSA-5687128 | 6.54 |
| Regulation of mRNA stability by proteins that bind AU-rich elements | R-HSA-450531 | 6.56 |
| Signal Transduction | R-HSA-162582 | 1.78 |
| GO term | GO ID | GO IC |
|---|---|---|
| kinase regulator activity | GO:0019207 | 4.5 |
| protein kinase C binding | GO:0005080 | 5.83 |
| enzyme binding | GO:0019899 | 2.27 |
| binding | GO:0005488 | 0.18 |
| nucleic acid binding | GO:0003676 | 1.44 |
| enzyme inhibitor activity | GO:0004857 | 3.78 |
| molecular function regulator | GO:0098772 | 2.51 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| protein kinase C inhibitor activity | GO:0008426 | 8.64 |
| poly(A) RNA binding | GO:0044822 | 2.69 |
| identical protein binding | GO:0042802 | 2.63 |
| kinase inhibitor activity | GO:0019210 | 5.25 |
| protein kinase regulator activity | GO:0019887 | 4.6 |
| enzyme regulator activity | GO:0030234 | 2.85 |
| protein kinase inhibitor activity | GO:0004860 | 5.28 |
| kinase binding | GO:0019900 | 3.32 |
| protein serine/threonine kinase inhibitor activity | GO:0030291 | 6.34 |
| protein kinase binding | GO:0019901 | 3.44 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| ubiquitin-like protein binding | GO:0032182 | 4.93 |
| ubiquitin binding | GO:0043130 | 5.09 |
| RNA binding | GO:0003723 | 2.36 |
| protein binding | GO:0005515 | 0.46 |