| Disease ID | Disease name | Source of annotation with MC2R | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS202200 | GLUCOCORTICOID DEFICIENCY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 3 | MC2R, NNT, MRAP |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Neuroactive ligand-receptor interaction | hsa04080 | 4.58 |
| cAMP signaling pathway | hsa04024 | 5.05 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Signaling by GPCR | R-HSA-372790 | 2.68 |
| GPCR downstream signaling | R-HSA-388396 | 3.07 |
| Class A/1 (Rhodopsin-like receptors) | R-HSA-373076 | 4.69 |
| Peptide ligand-binding receptors | R-HSA-375276 | 5.41 |
| Diseases of metabolism | R-HSA-5668914 | 6.57 |
| Defective ACTH causes Obesity and Pro-opiomelanocortinin deficiency (POMCD) | R-HSA-5579031 | 11.98 |
| Metabolic disorders of biological oxidation enzymes | R-HSA-5579029 | 7.85 |
| Signal Transduction | R-HSA-162582 | 1.78 |
| GPCR ligand binding | R-HSA-500792 | 4.19 |
| G alpha (s) signalling events | R-HSA-418555 | 5.99 |
| Disease | R-HSA-1643685 | 3.33 |
| GO term | GO ID | GO IC |
|---|---|---|
| G-protein coupled peptide receptor activity | GO:0008528 | 4.86 |
| G-protein coupled receptor activity | GO:0004930 | 2.95 |
| signaling receptor activity | GO:0038023 | 2.49 |
| protein binding | GO:0005515 | 0.46 |
| signal transducer activity | GO:0004871 | 2.28 |
| molecular transducer activity | GO:0060089 | 2.32 |
| transmembrane signaling receptor activity | GO:0004888 | 2.57 |
| peptide receptor activity | GO:0001653 | 4.84 |
| receptor activity | GO:0004872 | 2.32 |
| corticotropin receptor activity | GO:0004978 | 9.74 |
| neuropeptide receptor activity | GO:0008188 | 5.95 |
| melanocortin receptor activity | GO:0004977 | 7.95 |
| transmembrane receptor activity | GO:0099600 | 2.53 |
| binding | GO:0005488 | 0.18 |