Hearing impairment (HP:0000365)
A decreased magnitude of the sensory perception of sound.
Synonyms: Deafness, Hearing defect, Hearing impairment, Hearing loss, Hypacusis, Hypoacusis
Comment: Hearing loss can be categorized by which part of the auditory system is damaged, as conductive hearing loss, sensorineural hearing loss, and mixed hearing loss. Another axis of classification uses the degree of hearing impairment. The degree of hearing loss is computed by using a three frequency average taken at 500 Hz, 1,000 Hz and 2,000 Hz. The average of these three frequencies is called the Pure Tone Average (PTA). 0-20 dB is considered normal, 21-40 dB mild loss, 41-60 dB moderate loss, 61-70 dB moderately severe loss,71-90 dB severe loss, and greater than 90 dB profound loss. Note that the word deafness is occasionally used to describe partial hearing loss. The World Health Organization uses the word deafness to refer to complete loss of the ability to hear, and hearing impairment to refer to any degree of reduced hearing.
KEGG Pathway
| Index | Name | P-value | Adjusted p-value | Odds Ratio | Combined score |
| 1 | Phototransduction | 0.00008446 | 0.0005068 | 191.96 | 1800.45 |
| 2 | Retinol metabolism | 0.03349 | 0.09401 | 33.04 | 112.22 |
| 3 | Drug metabolism | 0.05272 | 0.09401 | 20.65 | 60.76 |
| 4 | Purine metabolism | 0.06267 | 0.09401 | 17.24 | 47.76 |
| 5 | cGMP-PKG signaling pathway | 0.08045 | 0.09654 | 13.27 | 33.44 |
GO: Biological Process
| Index | Name | P-value | Adjusted p-value | Odds Ratio | Combined score |
| 1 | protein localization to ciliary transition zone (GO:1904491) | 0.002997 | 0.02240 | 444.11 | 2580.41 |
| 2 | protein localization to non-motile cilium (GO:0097499) | 0.002997 | 0.02240 | 444.11 | 2580.41 |
| 3 | visual perception (GO:0007601) | 9.004e-8 | 0.000002895 | 149.07 | 2418.38 |
| 4 | sensory perception of light stimulus (GO:0050953) | 9.813e-8 | 0.000002895 | 145.78 | 2352.45 |
| 5 | regulation of rhodopsin mediated signaling pathway (GO:0022400) | 0.00006709 | 0.001319 | 217.03 | 2085.58 |
GO: Molecular Function
| Index | Name | P-value | Adjusted p-value | Odds Ratio | Combined score |
| 1 | guanylate cyclase activator activity (GO:0030250) | 0.002498 | 0.01921 | 555.17 | 3326.77 |
| 2 | NADP-retinol dehydrogenase activity (GO:0052650) | 0.002997 | 0.01921 | 444.11 | 2580.41 |
| 3 | intracellular cGMP-activated cation channel activity (GO:0005223) | 0.003495 | 0.01921 | 370.07 | 2093.27 |
| 4 | intracellular cAMP-activated cation channel activity (GO:0005222) | 0.004492 | 0.01921 | 277.53 | 1500.17 |
| 5 | leucine zipper domain binding (GO:0043522) | 0.004990 | 0.01921 | 246.68 | 1307.49 |
GO: Cellular Component
| Index | Name | P-value | Adjusted p-value | Odds Ratio | Combined score |
| 1 | sperm flagellum (GO:0036126) | 0.02570 | 0.1766 | 43.44 | 159.04 |
| 2 | 9+2 motile cilium (GO:0097729) | 0.02814 | 0.1766 | 39.55 | 141.22 |
| 3 | azurophil granule lumen (GO:0035578) | 0.04411 | 0.1766 | 24.85 | 77.54 |
| 4 | cytoplasmic vesicle lumen (GO:0060205) | 0.05605 | 0.1766 | 19.37 | 55.82 |
| 5 | ficolin-1-rich granule lumen (GO:1904813) | 0.05984 | 0.1766 | 18.09 | 50.96 |
Hub genes predicted as biomarkers & predicted FDA approved drugs
| Hub Genes (ranked) | FDA-Approved Drugs |
| RPGR | – |
| IMPDH1 | MYCOPHENOLATE MOFETIL HYDROCHLORIDE, RIBAVIRIN, MYCOPHENOLATE MOFETIL, MYCOPHENOLIC ACID |
| RDH12 | – |
| SPATA7 | – |
| CRX | – |
| PRPH2 | – |
| TULP1 | – |
| CNGA1 | DEQUALINIUM |
| NR2E3 | – |
| GUCA1B | – |
