| Disease ID | Source | Name | Description |
| 605472 | OMIM | Usher syndrome 2C (USH2C) | USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses. The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. A PDZD7 mutation has been found in combination with a mutation in ADGRV1 in a patient affected by Usher syndrome, suggesting PDZD7 mutations contribute to digenic Usher syndrome. |
| 618003 | OMIM | Deafness, autosomal recessive, 57 (DFNB57) | A form of non-syndromic, sensorineural deafness characterized by symmetric, bilateral hearing loss with onset in early childhood. Vestibular function is preserved. 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. DFNB57 severity ranges from moderate to severe. The disease is caused by variants affecting the gene represented in this entry. |
| 276901 | OMIM | Usher syndrome 2A (USH2A) | USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses. The gene represented in this entry acts as a disease modifier. |