| Disease ID | Disease name | Source of annotation with PTH1R | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 125350 | FAILURE OF TOOTH ERUPTION, PRIMARY | ClinVar, OMIM | link to OMIM | 1 | PTH1R |
| 600002 | EIKEN SYNDROME | ClinVar, OMIM | link to OMIM | 1 | PTH1R |
| 156400 | METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE | OMIM, HUMSAVAR | link to OMIM | 1 | PTH1R |
| 215045 | CHONDRODYSPLASIA, BLOMSTRAND TYPE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | PTH1R |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Endocrine and other factor-regulated calcium reabsorption | hsa04961 | 7.12 |
| Neuroactive ligand-receptor interaction | hsa04080 | 4.58 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Class B/2 (Secretin family receptors) | R-HSA-373080 | 6.52 |
| Signaling by GPCR | R-HSA-372790 | 2.68 |
| GPCR downstream signaling | R-HSA-388396 | 3.07 |
| GPCR ligand binding | R-HSA-500792 | 4.19 |
| G alpha (s) signalling events | R-HSA-418555 | 5.99 |
| Signal Transduction | R-HSA-162582 | 1.78 |
| GO term | GO ID | GO IC |
|---|---|---|
| peptide hormone binding | GO:0017046 | 6.13 |
| G-protein coupled receptor activity | GO:0004930 | 2.95 |
| signaling receptor activity | GO:0038023 | 2.49 |
| signal transducer activity | GO:0004871 | 2.28 |
| amide binding | GO:0033218 | 4.14 |
| hormone binding | GO:0042562 | 5.53 |
| molecular transducer activity | GO:0060089 | 2.32 |
| transmembrane signaling receptor activity | GO:0004888 | 2.57 |
| transmembrane receptor activity | GO:0099600 | 2.53 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| peptide binding | GO:0042277 | 4.22 |
| parathyroid hormone receptor activity | GO:0004991 | 9.05 |
| protein self-association | GO:0043621 | 5.93 |
| receptor activity | GO:0004872 | 2.32 |