Disease ID | Disease name | Source of annotation with ASIP | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS227220 | SKIN/HAIR/EYE PIGMENTATION, VARIATION IN | ClinVar, OMIM | link to OMIM | 12 | SLC45A2, KITLG, TYRP1, SLC24A4, ASIP, TPCN2, IRF4, HERC2, TYR, MC1R, SLC24A5, OCA2 |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Melanogenesis | hsa04916 | 5.97 |
GO term | GO ID | GO IC |
---|---|---|
type 3 melanocortin receptor binding | GO:0031781 | 8.35 |
melanocortin receptor binding | GO:0031779 | 8.35 |
type 4 melanocortin receptor binding | GO:0031782 | 8.35 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
neuropeptide receptor binding | GO:0071855 | 6.37 |
G-protein coupled receptor binding | GO:0001664 | 4.18 |
receptor binding | GO:0005102 | 2.43 |