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 |