| Disease ID | Disease name | Source of annotation with GH1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 262650 | KOWARSKI SYNDROME | OMIM, HUMSAVAR | link to OMIM | 1 | GH1 |
| 173100 | ISOLATED GROWTH HORMONE DEFICIENCY, TYPE II | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | GH1 |
| 262400 | ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IA | ClinVar, OMIM | link to OMIM | 2 | GH1, XRCC4 |
| 612781 | ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB | ClinVar, OMIM, HUMSAVAR | link to OMIM | 2 | GH1, GHRHR |
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 |
|---|---|---|
| Signal Transduction | R-HSA-162582 | 1.78 |
| Growth hormone receptor signaling | R-HSA-982772 | 8.4 |
| Immune System | R-HSA-168256 | 2.37 |
| Prolactin receptor signaling | R-HSA-1170546 | 9.08 |
| Peptide hormone metabolism | R-HSA-2980736 | 6.61 |
| Cytokine Signaling in Immune system | R-HSA-1280215 | 3.74 |
| Metabolism of proteins | R-HSA-392499 | 3.41 |
| Synthesis, secretion, and deacylation of Ghrelin | R-HSA-422085 | 8.89 |
| Signaling by ERBB4 | R-HSA-1236394 | 4.7 |
| Nuclear signaling by ERBB4 | R-HSA-1251985 | 7.7 |
| GO term | GO ID | GO IC |
|---|---|---|
| hormone activity | GO:0005179 | 4.95 |
| cation binding | GO:0043169 | 1.4 |
| cytokine receptor binding | GO:0005126 | 4.14 |
| prolactin receptor binding | GO:0005148 | 9.05 |
| growth hormone receptor binding | GO:0005131 | 8.13 |
| ion binding | GO:0043167 | 1.36 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| hormone receptor binding | GO:0051427 | 4.57 |
| receptor binding | GO:0005102 | 2.43 |
| metal ion binding | GO:0046872 | 1.41 |
| growth factor activity | GO:0008083 | 4.66 |