| Disease ID | Disease name | Source of annotation with MC1R | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS155600 | MELANOMA, CUTANEOUS MALIGNANT | ClinVar, OMIM, HUMSAVAR | link to OMIM | 11 | STK11, POT1, BRAF, TERT, PTEN, CDKN2A, MITF, TYR, MC1R, CDK4, XRCC3 |
| PS203100 | OCULOCUTANEOUS ALBINISM | OMIM | link to OMIM | 7 | SLC45A2, C10orf11, TYRP1, OCA2, TYR, MC1R, SLC24A5 |
| PS227220 | SKIN/HAIR/EYE PIGMENTATION, VARIATION IN | OMIM | link to OMIM | 12 | SLC45A2, KITLG, TYRP1, SLC24A4, ASIP, TPCN2, IRF4, HERC2, TYR, MC1R, SLC24A5, OCA2 |
| 613098 | INCREASED ANALGESIA FROM KAPPA-OPIOID RECEPTOR AGONIST, FEMALE-SPECIFIC | OMIM | link to OMIM | 1 | MC1R |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Melanogenesis | hsa04916 | 5.97 |
| Neuroactive ligand-receptor interaction | hsa04080 | 4.58 |
| 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 |
| GPCR ligand binding | R-HSA-500792 | 4.19 |
| G alpha (s) signalling events | R-HSA-418555 | 5.99 |
| Signal Transduction | R-HSA-162582 | 1.78 |
| 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 |
| ubiquitin protein ligase binding | GO:0031625 | 4.17 |
| ubiquitin-like protein ligase binding | GO:0044389 | 4.15 |
| protein binding | GO:0005515 | 0.46 |
| enzyme binding | GO:0019899 | 2.27 |
| 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 |
| signal transducer activity | GO:0004871 | 2.28 |
| melanocortin receptor activity | GO:0004977 | 7.95 |
| signaling receptor activity | GO:0038023 | 2.49 |
| melanocyte-stimulating hormone receptor activity | GO:0004980 | 8.64 |
| transmembrane receptor activity | GO:0099600 | 2.53 |
| binding | GO:0005488 | 0.18 |