Photophobia (HP:0000613)
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Synonyms: Light hypersensitivity, Extreme sensitivity of the eyes to light, Photodysphoria
Comment: Note that the term photodysphoria is used to describe extreme photophobia.
Cross References: MSH:D020795, SNOMEDCT_US:246622003, SNOMEDCT_US:409668002, UMLS:C0085636, UMLS:C4020887
KEGG Pathway
| Index | Name | P-value | Adjusted p-value | Odds Ratio | Combined score |
| 1 | Phototransduction | 2.929e-7 | 0.000001465 | 342.26 | 5148.70 |
| 2 | Retinol metabolism | 0.03349 | 0.08373 | 33.04 | 112.22 |
| 3 | Purine metabolism | 0.06267 | 0.1006 | 17.24 | 47.76 |
| 4 | cGMP-PKG signaling pathway | 0.08045 | 0.1006 | 13.27 | 33.44 |
| 5 | cAMP signaling pathway | 0.1029 | 0.1029 | 10.22 | 23.24 |
GO: Biological Process
| Index | Name | P-value | Adjusted p-value | Odds Ratio | Combined score |
| 1 | rhodopsin mediated signaling pathway (GO:0016056) | 0.00001235 | 0.0001407 | 555.03 | 6273.06 |
| 2 | regulation of rhodopsin mediated signaling pathway (GO:0022400) | 2.058e-7 | 0.000003910 | 388.99 | 5988.96 |
| 3 | phototransduction, visible light (GO:0007603) | 0.00002354 | 0.0001917 | 384.17 | 4094.01 |
| 4 | eye photoreceptor cell development (GO:0042462) | 0.00002354 | 0.0001917 | 384.17 | 4094.01 |
| 5 | visual perception (GO:0007601) | 9.004e-8 | 0.000002797 | 149.07 | 2418.38 |
GO: Molecular Function
| Index | Name | P-value | Adjusted p-value | Odds Ratio | Combined score |
| 1 | leucine zipper domain binding (GO:0043522) | 0.00001010 | 0.0002829 | 624.44 | 7182.69 |
| 2 | LRR domain binding (GO:0030275) | 0.00002041 | 0.0002857 | 416.21 | 4494.85 |
| 3 | guanylate cyclase activator activity (GO:0030250) | 0.002498 | 0.01537 | 555.17 | 3326.77 |
| 4 | NADP-retinol dehydrogenase activity (GO:0052650) | 0.002997 | 0.01537 | 444.11 | 2580.41 |
| 5 | intracellular cGMP-activated cation channel activity (GO:0005223) | 0.003495 | 0.01537 | 370.07 | 2093.27 |
GO: Cellular Component
| Index | Name | P-value | Adjusted p-value | Odds Ratio | Combined score |
| 1 | sperm flagellum (GO:0036126) | 0.02570 | 0.08443 | 43.44 | 159.04 |
| 2 | 9+2 motile cilium (GO:0097729) | 0.02814 | 0.08443 | 39.55 | 141.22 |
| 3 | cilium (GO:0005929) | 0.1124 | 0.2248 | 9.30 | 20.33 |
| 4 | integral component of plasma membrane (GO:0005887) | 0.1613 | 0.2419 | 3.19 | 5.82 |
| 5 | nucleus (GO:0005634) | 0.3960 | 0.4752 | 1.48 | 1.37 |
Hub genes predicted as biomarkers & predicted FDA approved drugs
| Hub Genes (ranked) | FDA-Approved Drugs |
| GUCA1B | – |
| NR2E3 | – |
| PRPH2 | – |
| CRX | – |
| CNGA1 | DEQUALINIUM |
| NRL | – |
| PDE6G | PENTOXIFYLLINE |
| RPGR | – |
| RDH12 | – |
| TULP1 | – |
