| Disease ID | Disease name | Source of annotation with PRKAG2 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 194200 | WOLFF-PARKINSON-WHITE SYNDROME | OMIM, HUMSAVAR | link to OMIM | 1 | PRKAG2 |
| PS192600 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC | ClinVar, OMIM, HUMSAVAR | link to OMIM | 25 | CALR3, JPH2, VCL, TNNC1, LDB3, ACTC1, CSRP3, MYLK2, TTN, MYH7, NEXN, MYOZ2, TCAP, ACTN2, TNNT2, MYL2, MYBPC3, PLN, MYH6, TPM1, TNNI3, MYL3, PRKAG2, MYPN, CAV3 |
| 261740 | GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | PRKAG2 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Hypertrophic cardiomyopathy (HCM) | hsa05410 | 6.21 |
| Insulin signaling pathway | hsa04910 | 5.55 |
| Non-alcoholic fatty liver disease (NAFLD) | hsa04932 | 5.51 |
| FoxO signaling pathway | hsa04068 | 5.63 |
| Circadian rhythm | hsa04710 | 7.81 |
| AMPK signaling pathway | hsa04152 | 5.8 |
| Oxytocin signaling pathway | hsa04921 | 5.4 |
| Adipocytokine signaling pathway | hsa04920 | 6.6 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Transcriptional Regulation by TP53 | R-HSA-3700989 | 6.73 |
| Activation of PPARGC1A (PGC-1alpha) by phosphorylation | R-HSA-2151209 | 9.66 |
| Mitochondrial biogenesis | R-HSA-1592230 | 7.34 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Fatty acid, triacylglycerol, and ketone body metabolism | R-HSA-535734 | 5.44 |
| IRS-related events triggered by IGF1R | R-HSA-2428928 | 4.85 |
| Signaling by Insulin receptor | R-HSA-74752 | 4.73 |
| Insulin receptor signalling cascade | R-HSA-74751 | 4.85 |
| Import of palmitoyl-CoA into the mitochondrial matrix | R-HSA-200425 | 9.52 |
| Generic Transcription Pathway | R-HSA-212436 | 3.86 |
| Gene Expression | R-HSA-74160 | 2.72 |
| Organelle biogenesis and maintenance | R-HSA-1852241 | 4.63 |
| Cellular responses to stress | R-HSA-2262752 | 4.56 |
| IRS-mediated signalling | R-HSA-112399 | 4.87 |
| Metabolism of lipids and lipoproteins | R-HSA-556833 | 3.79 |
| TP53 Regulates Metabolic Genes | R-HSA-5628897 | 6.73 |
| Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R) | R-HSA-2404192 | 4.85 |
| Energy dependent regulation of mTOR by LKB1-AMPK | R-HSA-380972 | 8.18 |
| AMPK inhibits chREBP transcriptional activation activity | R-HSA-163680 | 10.66 |
| Integration of energy metabolism | R-HSA-163685 | 6.24 |
| Membrane Trafficking | R-HSA-199991 | 5.26 |
| Translocation of GLUT4 to the plasma membrane | R-HSA-1445148 | 6.77 |
| Vesicle-mediated transport | R-HSA-5653656 | 4.33 |
| Macroautophagy | R-HSA-1632852 | 6.92 |
| mTOR signalling | R-HSA-165159 | 7.7 |
| PI3K Cascade | R-HSA-109704 | 6.68 |
| PKB-mediated events | R-HSA-109703 | 7.66 |
| IGF1R signaling cascade | R-HSA-2428924 | 4.85 |
| Signal Transduction | R-HSA-162582 | 1.78 |
| GO term | GO ID | GO IC |
|---|---|---|
| kinase regulator activity | GO:0019207 | 4.5 |
| purine ribonucleoside triphosphate binding | GO:0035639 | 2.22 |
| kinase activator activity | GO:0019209 | 5.58 |
| enzyme binding | GO:0019899 | 2.27 |
| small molecule binding | GO:0036094 | 1.89 |
| binding | GO:0005488 | 0.18 |
| enzyme inhibitor activity | GO:0004857 | 3.78 |
| molecular function regulator | GO:0098772 | 2.51 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| purine nucleoside binding | GO:0001883 | 2.22 |
| phosphorylase kinase regulator activity | GO:0008607 | 8.35 |
| cAMP-dependent protein kinase regulator activity | GO:0008603 | 7.79 |
| nucleotide binding | GO:0000166 | 1.96 |
| protein serine/threonine kinase activity | GO:0004674 | 3.64 |
| transferase activity | GO:0016740 | 1.95 |
| nucleoside phosphate binding | GO:1901265 | 1.96 |
| ribonucleoside binding | GO:0032549 | 2.22 |
| purine nucleotide binding | GO:0017076 | 2.19 |
| protein kinase activity | GO:0004672 | 3.27 |
| nucleoside binding | GO:0001882 | 2.21 |
| AMP-activated protein kinase activity | GO:0004679 | 7.79 |
| ATP binding | GO:0005524 | 2.43 |
| kinase inhibitor activity | GO:0019210 | 5.25 |
| kinase activity | GO:0016301 | 2.93 |
| protein kinase regulator activity | GO:0019887 | 4.6 |
| enzyme regulator activity | GO:0030234 | 2.85 |
| AMP binding | GO:0016208 | 7.44 |
| protein kinase inhibitor activity | GO:0004860 | 5.28 |
| kinase binding | GO:0019900 | 3.32 |
| cAMP-dependent protein kinase inhibitor activity | GO:0004862 | 7.54 |
| ADP binding | GO:0043531 | 6.24 |
| protein serine/threonine kinase inhibitor activity | GO:0030291 | 6.34 |
| protein kinase activator activity | GO:0030295 | 5.68 |
| protein kinase binding | GO:0019901 | 3.44 |
| adenyl nucleotide binding | GO:0030554 | 2.4 |
| carbohydrate derivative binding | GO:0097367 | 2.03 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| catalytic activity | GO:0003824 | 1.05 |
| phosphotransferase activity, alcohol group as acceptor | GO:0016773 | 3.08 |
| adenyl ribonucleotide binding | GO:0032559 | 2.41 |
| protein binding | GO:0005515 | 0.46 |
| transferase activity, transferring phosphorus-containing groups | GO:0016772 | 2.77 |
| purine ribonucleotide binding | GO:0032555 | 2.2 |
| purine ribonucleoside binding | GO:0032550 | 2.22 |
| ribonucleotide binding | GO:0032553 | 2.19 |
| enzyme activator activity | GO:0008047 | 3.56 |