| Disease ID | Disease name | Source of annotation with EDNRB | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 600501 | ABCD SYNDROME | ClinVar, OMIM | link to OMIM | 1 | EDNRB |
| 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 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| cGMP-PKG signaling pathway | hsa04022 | 5.32 |
| Melanogenesis | hsa04916 | 5.97 |
| Calcium signaling pathway | hsa04020 | 5.22 |
| Neuroactive ligand-receptor interaction | hsa04080 | 4.58 |
| Pathways in cancer | hsa05200 | 3.98 |
| 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 |
|---|---|---|
| peptide hormone binding | GO:0017046 | 6.13 |
| 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 |
| peptide binding | GO:0042277 | 4.22 |
| amide binding | GO:0033218 | 4.14 |
| peptide receptor activity | GO:0001653 | 4.84 |
| angiotensin receptor binding | GO:0031701 | 7.25 |
| molecular transducer activity | GO:0060089 | 2.32 |
| transmembrane signaling receptor activity | GO:0004888 | 2.57 |
| type 1 angiotensin receptor binding | GO:0031702 | 7.44 |
| binding | GO:0005488 | 0.18 |
| signal transducer activity | GO:0004871 | 2.28 |
| G-protein coupled receptor binding | GO:0001664 | 4.18 |
| receptor binding | GO:0005102 | 2.43 |
| endothelin receptor activity | GO:0004962 | 9.05 |
| hormone binding | GO:0042562 | 5.53 |
| transmembrane receptor activity | GO:0099600 | 2.53 |
| receptor activity | GO:0004872 | 2.32 |