Aliases: MYHC-EMB, MYHSE1, HEMHC, SMHCE.
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 |
|---|---|---|
| Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1A | causative | |
| Camptodactyly |
untyped
Pathogenic Variants
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.