eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | usher syndrome |
| Symptom | C0011053|deafness |
| Sentences | 2 |
| 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- 21738389 | Within the mapped region on chromosome 9, 102 genes were sorted using genedistiller, among which dfnb31, encoding whirlin, was the only gene already reported to be involved in rod-cone dystrophy associated with deafness as part of usher syndrome type 2 (ush2d locus) . |
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