| Disease ID | Disease name | Source of annotation with FSHB | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS147950 | HYPOGONADOTROPIC HYPOGONADISM WITH OR WITHOUT ANOSMIA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 24 | TAC3, FGFR1, PROKR2, NSMF, WDR11, HS6ST1, TACR3, KISS1, FEZF1, KISS1R, DUSP6, SEMA3A, FGF17, ANOS1, FSHB, CHD7, FGF8, PROK2, FLRT3, GNRHR, IL17RD, SPRY4, GNRH1, LHB |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| GnRH signaling pathway | hsa04912 | 6.18 |
| Ovarian steroidogenesis | hsa04913 | 7.07 |
| Neuroactive ligand-receptor interaction | hsa04080 | 4.58 |
| cAMP signaling pathway | hsa04024 | 5.05 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Hormone ligand-binding receptors | R-HSA-375281 | 9.52 |
| 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 |
| Peptide hormone metabolism | R-HSA-2980736 | 6.61 |
| Metabolism of proteins | R-HSA-392499 | 3.41 |
| Peptide hormone biosynthesis | R-HSA-209952 | 9.4 |
| 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 |
| Glycoprotein hormones | R-HSA-209822 | 9.66 |
| GO term | GO ID | GO IC |
|---|---|---|
| hormone activity | GO:0005179 | 4.95 |
| receptor binding | GO:0005102 | 2.43 |
| follicle-stimulating hormone activity | GO:0016913 | 9.74 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |