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 |