| Disease ID | Disease name | Source of annotation with GNAQ | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 185300 | STURGE-WEBER SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | GNAQ |
| 163000 | CAPILLARY MALFORMATIONS, CONGENITAL | ClinVar, OMIM | link to OMIM | 1 | GNAQ |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Platelet activation | hsa04611 | 5.66 |
| cGMP-PKG signaling pathway | hsa04022 | 5.32 |
| Calcium signaling pathway | hsa04020 | 5.22 |
| Long-term potentiation | hsa04720 | 6.64 |
| Retrograde endocannabinoid signaling | hsa04723 | 6.03 |
| Cholinergic synapse | hsa04725 | 5.88 |
| Glutamatergic synapse | hsa04724 | 5.84 |
| Serotonergic synapse | hsa04726 | 5.84 |
| Dopaminergic synapse | hsa04728 | 5.69 |
| Oxytocin signaling pathway | hsa04921 | 5.4 |
| Endocrine and other factor-regulated calcium reabsorption | hsa04961 | 7.12 |
| Chagas disease (American trypanosomiasis) | hsa05142 | 5.99 |
| African trypanosomiasis | hsa05143 | 7.68 |
| Amoebiasis | hsa05146 | 5.82 |
| Vascular smooth muscle contraction | hsa04270 | 5.74 |
| Gap junction | hsa04540 | 6.24 |
| Pathways in cancer | hsa05200 | 3.98 |
| GnRH signaling pathway | hsa04912 | 6.18 |
| Rap1 signaling pathway | hsa04015 | 4.97 |
| Insulin secretion | hsa04911 | 6.18 |
| Inflammatory mediator regulation of TRP channels | hsa04750 | 6.07 |
| Estrogen signaling pathway | hsa04915 | 6.11 |
| Thyroid hormone synthesis | hsa04918 | 6.56 |
| Circadian entrainment | hsa04713 | 6.11 |
| Long-term depression | hsa04730 | 6.74 |
| Salivary secretion | hsa04970 | 6.23 |
| Gastric acid secretion | hsa04971 | 6.48 |
| Pancreatic secretion | hsa04972 | 6.07 |
| Melanogenesis | hsa04916 | 5.97 |
| Huntington's disease | hsa05016 | 5.17 |
| Alzheimer's disease | hsa05010 | 5.34 |
| Adrenergic signaling in cardiomyocytes | hsa04261 | 5.44 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Regulation of insulin secretion | R-HSA-422356 | 6.66 |
| Signaling by GPCR | R-HSA-372790 | 2.68 |
| Free fatty acids regulate insulin secretion | R-HSA-400451 | 9.98 |
| Thromboxane signalling through TP receptor | R-HSA-428930 | 8.46 |
| Platelet activation, signaling and aggregation | R-HSA-76002 | 5.15 |
| Gastrin-CREB signalling pathway via PKC and MAPK | R-HSA-881907 | 4.26 |
| Acetylcholine regulates insulin secretion | R-HSA-399997 | 9.66 |
| Integration of energy metabolism | R-HSA-163685 | 6.24 |
| G alpha (q) signalling events | R-HSA-416476 | 5.42 |
| ADP signalling through P2Y purinoceptor 1 | R-HSA-418592 | 8.34 |
| Signal amplification | R-HSA-392518 | 7.98 |
| Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion | R-HSA-434316 | 9.98 |
| Metabolism | R-HSA-1430728 | 2.34 |
| GPCR downstream signaling | R-HSA-388396 | 3.07 |
| Thrombin signalling through proteinase activated receptors (PARs) | R-HSA-456926 | 7.98 |
| Hemostasis | R-HSA-109582 | 3.98 |
| Signal Transduction | R-HSA-162582 | 1.78 |
| GO term | GO ID | GO IC |
|---|---|---|
| purine ribonucleoside triphosphate binding | GO:0035639 | 2.22 |
| macromolecular complex binding | GO:0044877 | 2.61 |
| binding | GO:0005488 | 0.18 |
| signal transducer activity | GO:0004871 | 2.28 |
| G-protein coupled receptor binding | GO:0001664 | 4.18 |
| molecular function regulator | GO:0098772 | 2.51 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| nucleoside phosphate binding | GO:1901265 | 1.96 |
| nucleoside binding | GO:0001882 | 2.21 |
| cation binding | GO:0043169 | 1.4 |
| GTPase activator activity | GO:0005096 | 4.11 |
| pyrophosphatase activity | GO:0016462 | 3.04 |
| ion binding | GO:0043167 | 1.36 |
| guanyl ribonucleotide binding | GO:0032561 | 3.73 |
| purine nucleoside binding | GO:0001883 | 2.22 |
| ribonucleoside binding | GO:0032549 | 2.22 |
| protein complex binding | GO:0032403 | 3.09 |
| G-protein coupled serotonin receptor binding | GO:0031821 | 7.79 |
| metal ion binding | GO:0046872 | 1.41 |
| type 2A serotonin receptor binding | GO:0031826 | 8.64 |
| GTP binding | GO:0005525 | 3.78 |
| hydrolase activity | GO:0016787 | 1.9 |
| G-protein beta/gamma-subunit complex binding | GO:0031683 | 6.65 |
| nucleotide binding | GO:0000166 | 1.96 |
| enzyme regulator activity | GO:0030234 | 2.85 |
| GTPase activity | GO:0003924 | 4.31 |
| nucleoside-triphosphatase activity | GO:0017111 | 3.09 |
| small molecule binding | GO:0036094 | 1.89 |
| catalytic activity | GO:0003824 | 1.05 |
| purine nucleotide binding | GO:0017076 | 2.19 |
| nucleoside-triphosphatase regulator activity | GO:0060589 | 3.92 |
| hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides | GO:0016818 | 3.03 |
| GTPase regulator activity | GO:0030695 | 4.01 |
| carbohydrate derivative binding | GO:0097367 | 2.03 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| hydrolase activity, acting on acid anhydrides | GO:0016817 | 3.03 |
| guanyl nucleotide binding | GO:0019001 | 3.73 |
| protein binding | GO:0005515 | 0.46 |
| purine ribonucleotide binding | GO:0032555 | 2.2 |
| receptor binding | GO:0005102 | 2.43 |
| purine ribonucleoside binding | GO:0032550 | 2.22 |
| ribonucleotide binding | GO:0032553 | 2.19 |
| enzyme activator activity | GO:0008047 | 3.56 |