Aliases: SMMHC, SMHC, SMMS-1.
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 |
|---|---|---|
| Familial Thoracic Aortic Aneurysm and Aortic Dissection | causative germline |
mechanism: MYH11-associated impaired aortic contractility and ROCK signaling; Vascular smooth muscle contractile apparatus disruption
subtype: MYH11-related
scoped to subtype: MYH11-related
|
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
untyped
Causal
|
|
| Idiopathic Gastroparesis | no genetic record |
mechanism: Smooth Muscle Contractile Protein and PDGFRA+ Cell Loss
|
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 |
|---|---|---|---|
| congenital heart disease MONDO:0005453 | AD | Limited 2024-10-15 |
Congenital Heart Disease
not named
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.