Previous symbols: MRX85. Aliases: BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Becker Muscular Dystrophy | causative | |
| Duchenne Muscular Dystrophy | causative germline |
mechanism: CNS Dystrophin Isoform Deficiency; DMD ASO-Directed Exon Skipping; DMD Loss-of-Function Variants; Dystrophin Deficiency; Exon-Skipping-Amenable DMD Pre-mRNA Processing Vulnerability; Restored In-Frame DMD Transcript and Dystrophin Expression
treatment: Casimersen (Exon 45 Skipping); Eteplirsen (Exon 51 Skipping); Golodirsen (Exon 53 Skipping); Viltolarsen (Exon 53 Skipping)
|
| X-linked Dilated Cardiomyopathy | causative |
subtype: 5-prime XLDCM; Exon 45-55
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| progressive muscular dystrophy MONDO:0016106 | XL | Definitive 2024-11-14 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.