| Disease ID | Disease name | Source of annotation with GHR | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 143890 | HYPERCHOLESTEROLEMIA, FAMILIAL | ClinVar, OMIM | link to OMIM | 10 | APOA2, ITIH4, EPHX2, PCSK9, STAP1, PPP1R17, ABCA1, APOB, LDLR, GHR |
| 615925 | GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL | ClinVar | link to OMIM | 2 | GHSR, GHR |
| 262500 | LARON SYNDROME | OMIM, HUMSAVAR | link to OMIM | 1 | GHR |
| 604271 | GROWTH HORMONE INSENSITIVITY, PARTIAL | ClinVar, OMIM, HUMSAVAR | link to OMIM | 2 | GHSR, GHR |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Jak-STAT signaling pathway | hsa04630 | 5.44 |
| Neuroactive ligand-receptor interaction | hsa04080 | 4.58 |
| Cytokine-cytokine receptor interaction | hsa04060 | 4.67 |
| PI3K-Akt signaling pathway | hsa04151 | 4.21 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Growth hormone receptor signaling | R-HSA-982772 | 8.4 |
| Immune System | R-HSA-168256 | 2.37 |
| Prolactin receptor signaling | R-HSA-1170546 | 9.08 |
| Cytokine Signaling in Immune system | R-HSA-1280215 | 3.74 |
| Signal Transduction | R-HSA-162582 | 1.78 |
| Signaling by ERBB4 | R-HSA-1236394 | 4.7 |
| Nuclear signaling by ERBB4 | R-HSA-1251985 | 7.7 |
| GO term | GO ID | GO IC |
|---|---|---|
| peptide hormone binding | GO:0017046 | 6.13 |
| signaling receptor activity | GO:0038023 | 2.49 |
| enzyme binding | GO:0019899 | 2.27 |
| molecular transducer activity | GO:0060089 | 2.32 |
| binding | GO:0005488 | 0.18 |
| signal transducer activity | GO:0004871 | 2.28 |
| proline-rich region binding | GO:0070064 | 6.79 |
| peptide binding | GO:0042277 | 4.22 |
| growth factor binding | GO:0019838 | 4.89 |
| identical protein binding | GO:0042802 | 2.63 |
| cytokine receptor activity | GO:0004896 | 5.24 |
| SH2 domain binding | GO:0042169 | 6.34 |
| amide binding | GO:0033218 | 4.14 |
| protein kinase binding | GO:0019901 | 3.44 |
| kinase binding | GO:0019900 | 3.32 |
| protein phosphatase binding | GO:0019903 | 4.93 |
| phosphatase binding | GO:0019902 | 4.63 |
| protein domain specific binding | GO:0019904 | 3.32 |
| growth hormone receptor activity | GO:0004903 | 9.74 |
| hormone binding | GO:0042562 | 5.53 |
| transmembrane signaling receptor activity | GO:0004888 | 2.57 |
| protein binding | GO:0005515 | 0.46 |
| protein dimerization activity | GO:0046983 | 2.72 |
| protein homodimerization activity | GO:0042803 | 3.16 |
| transmembrane receptor activity | GO:0099600 | 2.53 |
| receptor activity | GO:0004872 | 2.32 |