| Disease ID | Disease name | Source of annotation with EDN3 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS142623 | HIRSCHSPRUNG DISEASE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 21 | TSC2, KDR, GDNF, PTCH1, GFRA1, NTF3, IRAK3, EDN3, ZHX2, THBS4, AHNAK, POLR2F, FBN1, RET, CNTN5, DPYD, EDNRB, CREBBP, SEMA3D, FAT3, PLAU |
| PS193500 | WAARDENBURG SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 7 | PAX3, EDN3, EDNRB, MITF, SOX10, TYR, SNAI2 |
| 209880 | CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL | OMIM | link to OMIM | 6 | ASCL1, GDNF, EDN3, BDNF, PHOX2B, RET |
Download the gene annotation in CSV format
| 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 |
| Gastrin-CREB signalling pathway via PKC and MAPK | R-HSA-881907 | 4.26 |
| G alpha (q) signalling events | R-HSA-416476 | 5.42 |
| Peptide ligand-binding receptors | R-HSA-375276 | 5.41 |
| GPCR ligand binding | R-HSA-500792 | 4.19 |
| Signal Transduction | R-HSA-162582 | 1.78 |
| GO term | GO ID | GO IC |
|---|---|---|
| hormone activity | GO:0005179 | 4.95 |
| bombesin receptor binding | GO:0031705 | 8.35 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| endothelin B receptor binding | GO:0031708 | 8.64 |
| neuropeptide receptor binding | GO:0071855 | 6.37 |
| G-protein coupled receptor binding | GO:0001664 | 4.18 |
| receptor binding | GO:0005102 | 2.43 |