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 |
|---|---|---|
| Atrial Septal Defect | causative germline |
mechanism: Abnormal Atrial Septation
subtype: ASD3
|
| Coarctation of the Aorta | susceptibility |
mechanism: Left Ventricular Outflow Tract Developmental Program Disruption
|
| Congenital Heart Disease | causative |
scoped to subtype: LVOTO
|
| Dilated Cardiomyopathy 1EE | causative germline |
mechanism: Heterozygous MYH6 Missense Variant
|
| Hypertrophic Cardiomyopathy 14 | disputed |
mechanism: MYH6 Missense Variant in Alpha-Myosin Heavy Chain
discussion: (unnamed)
|
| Hypoplastic Left Heart Syndrome | susceptibility germline |
mechanism: Genetic lesion affecting cardiac growth or valvulogenesis; Systemic right ventricle after staged palliation
|
| Dilated Cardiomyopathy |
untyped
Pathogenic Variants
|
mechanism: Sarcomeric and Cytoskeletal Dysfunction
|
| Familial Sick Sinus Syndrome |
untyped
Risk Factor
|
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 2023-07-12 |
Hypertrophic Cardiomyopathy
not named
|
| dilated cardiomyopathy 1EE MONDO:0013198 | AD | Limited 2026-03-04 |
Dilated Cardiomyopathy 1EE
causative
|
| MYH-6 related congenital heart defects MONDO:0800442 | AD | Definitive 2023-05-09 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.