Aliases: DAGD, LGMD2F, CMD1L.
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: LGMDR6
scoped to subtype: LGMDR6
|
| Dilated Cardiomyopathy 1L |
untyped
germline
dominant negative
CLINGEN: limited
|
mechanism: Heterozygous SGCD Variant
|
| Sarcoglycanopathy | untyped |
mechanism: Sarcoglycan-Sarcospan Subcomplex Assembly at the Sarcolemma
subtype: SGCD
scoped to subtype: SGCD
|
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 |
|---|---|---|---|
| dilated cardiomyopathy 1L MONDO:0011702 | AD | Limited 2026-03-04 |
Dilated Cardiomyopathy 1L
untyped
|
| 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.