Previous symbols: CMD1C. Aliases: PDLIM6, KIAA0613, ZASP.
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 |
|---|---|---|
| Myofibrillar Myopathy | causative |
mechanism: Z-Disc and Chaperone Protein Variant
subtype: MFM4
scoped to subtype: MFM4
|
| Coronary Artery Congenital Malformation |
untyped
Candidate Susceptibility Gene
|
|
| Dilated Cardiomyopathy |
untyped
Pathogenic Variants
|
mechanism: Sarcomeric and Cytoskeletal Dysfunction
|
| Dilated Cardiomyopathy 1C |
untyped
Heterozygous missense variants; ClinGen Limited (autosomal dominant) for dilated cardiomyopathy 1C
germline
unknown
CLINGEN: limited
|
mechanism: Altered ZASP Signalling-Partner Binding; LDB3 Heterozygous Missense Variant
subtype: CMD1C; CMH24; LVNC3
|
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 |
|---|---|---|---|
| hypertrophic cardiomyopathy MONDO:0005045 | AD | Disputed 2026-01-27 |
Hypertrophic Cardiomyopathy
not named
|
| dilated cardiomyopathy 1C MONDO:0011094 | AD | Limited 2026-03-04 |
Dilated Cardiomyopathy 1C
untyped
|
| arrhythmogenic right ventricular cardiomyopathy MONDO:0016587 | AD | Disputed 2019-09-12 |
|
| cardiomyopathy, dilated, 2l MONDO:0979236 | AR | Strong 2026-03-04 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.