eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | usher syndrome |
| Symptom | C0456909|blindness |
| Sentences | 4 |
| PubMedID- 22132314 | usher syndrome, the commonest cause of deaf-blindness, is characterized by retinal degeneration, hearing loss, and, in some cases, abnormal vestibular function. |
| PubMedID- 20146813 | blindness developed due to usher syndrome), an initial set of genes were selected for inclusion on one or both hearing loss arrays (e.g. |
| PubMedID- 22977115 | Ush2a and gpr98 have been found to be mutated in usher syndrome, a ciliopathy leading to deafness and blindness, and found to potentially interact in the extracellular gap (maerker et al. |
| PubMedID- 22532808 | Intriguingly, dysc is the closest drosophila homolog of whirlin, a gene linked to type ii usher syndrome, the leading cause of deaf-blindness in humans. |
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