| Disease ID | Source | Name | Description |
| 600965 | OMIM | Deafness, autosomal dominant, 6 (DFNA6) | A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA6 is a low-frequency hearing loss in which frequencies of 2000 Hz and below are predominantly affected. Many patients have tinnitus, but there are otherwise no associated features such as vertigo. Because high-frequency hearing is generally preserved, patients retain excellent understanding of speech, although presbycusis or noise exposure may cause high-frequency loss later in life. DFNA6 worsens over time without progressing to profound deafness. The disease is caused by variants affecting the gene represented in this entry. |
| 222300 | OMIM | Wolfram syndrome 1 (WFS1) | A rare disorder characterized by juvenile-onset insulin-dependent diabetes mellitus with optic atrophy. Other manifestations include diabetes insipidus, sensorineural deafness, dementia, psychiatric illnesses. The disease is caused by variants affecting the gene represented in this entry. |
| 116400 | OMIM | Cataract 41 (CTRCT41) | An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. The disease is caused by variants affecting the gene represented in this entry. |
| 614296 | OMIM | Wolfram-like syndrome autosomal dominant (WFSL) | A disease characterized by the clinical triad of congenital progressive hearing impairment, diabetes mellitus, and optic atrophy. The hearing impairment, which is usually diagnosed in the first decade of life, is relatively constant and alters mainly low- and middle-frequency ranges. The disease is caused by variants affecting the gene represented in this entry. |