| Disease ID | Disease name | Source of annotation with TSC1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 607341 | FOCAL CORTICAL DYSPLASIA OF TAYLOR | OMIM | link to OMIM | 1 | TSC1 |
| PS191100 | TUBEROUS SCLEROSIS | ClinVar, OMIM, HUMSAVAR | link to OMIM | 4 | TSC2, IFNG, SERPINC1, TSC1 |
| 606690 | LYMPHANGIOLEIOMYOMATOSIS | ClinVar, OMIM | link to OMIM | 2 | TSC2, TSC1 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Insulin signaling pathway | hsa04910 | 5.55 |
| AMPK signaling pathway | hsa04152 | 5.8 |
| Choline metabolism in cancer | hsa05231 | 6.09 |
| mTOR signaling pathway | hsa04150 | 6.72 |
| PI3K-Akt signaling pathway | hsa04151 | 4.21 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Macroautophagy | R-HSA-1632852 | 6.92 |
| Transcriptional Regulation by TP53 | R-HSA-3700989 | 6.73 |
| Inhibition of TSC complex formation by PKB | R-HSA-165181 | 11.4 |
| Energy dependent regulation of mTOR by LKB1-AMPK | R-HSA-380972 | 8.18 |
| Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R) | R-HSA-2404192 | 4.85 |
| Generic Transcription Pathway | R-HSA-212436 | 3.86 |
| Gene Expression | R-HSA-74160 | 2.72 |
| Cellular responses to stress | R-HSA-2262752 | 4.56 |
| IRS-mediated signalling | R-HSA-112399 | 4.87 |
| PI3K Cascade | R-HSA-109704 | 6.68 |
| IGF1R signaling cascade | R-HSA-2428924 | 4.85 |
| PKB-mediated events | R-HSA-109703 | 7.66 |
| IRS-related events triggered by IGF1R | R-HSA-2428928 | 4.85 |
| TP53 Regulates Metabolic Genes | R-HSA-5628897 | 6.73 |
| mTOR signalling | R-HSA-165159 | 7.7 |
| Signaling by Insulin receptor | R-HSA-74752 | 4.73 |
| Signal Transduction | R-HSA-162582 | 1.78 |
| Insulin receptor signalling cascade | R-HSA-74751 | 4.85 |
| GO term | GO ID | GO IC |
|---|---|---|
| chaperone binding | GO:0051087 | 5.34 |
| protein N-terminus binding | GO:0047485 | 5.11 |
| enzyme regulator activity | GO:0030234 | 2.85 |
| GTPase activating protein binding | GO:0032794 | 7.1 |
| GTPase regulator activity | GO:0030695 | 4.01 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| molecular function regulator | GO:0098772 | 2.51 |
| nucleoside-triphosphatase regulator activity | GO:0060589 | 3.92 |