Previous symbols: DMDA1, MAM, LGMD2C. Aliases: SCARMD2, DAGA4, SCG3, DMDA, TYPE, A4, MGC130048.
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 |
|---|---|---|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy | untyped |
mechanism: Sarcolemmal Instability and Failed Membrane Repair
subtype: LGMDR5
scoped to subtype: LGMDR5
|
| Sarcoglycanopathy | untyped |
mechanism: Sarcoglycan-Sarcospan Subcomplex Assembly at the Sarcolemma
subtype: SGCG
scoped to subtype: SGCG
|
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 |
|---|---|---|---|
| autosomal recessive limb-girdle muscular dystrophy MONDO:0015152 | AR | Definitive 2024-11-14 |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.