Entity Details
Details
| PrimaryID | 23676 |
| RefseqGene | NG_031916 |
| Symbol | SMPX |
| Name | small muscle protein X-linked |
| Chromosome | X |
| Location | Xp22.12 |
| TaxID | 9606 |
| Status | live |
| SourceGenome | genomic |
| SourceOrigin | natural |
| CreationDate | 1999-11-04 |
| ModificationDate | 2021-06-11 |
Diseases
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| Disease ID | Source | Name | Description |
| 300066 | OMIM | Deafness, X-linked, 4 (DFNX4) | A non-syndromic form of sensorineural, progressive hearing loss with postlingual onset. In affected males, the auditory impairment affects initially high-frequency hearing. It later evolves to become severe to profound and affects all frequencies. Carrier females manifest moderate hearing impairment in the high frequencies. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
2 interactions