Disorder "Familial Hypertrophic Cardiomyopathy"
Found 2 records
Disorder information
Disorder name:
Familial Hypertrophic Cardiomyopathy
Disoder ID:
OMIM entry:
Definition:
A hypertrophic cardiomyopathy that is characterized by thickening of the heart muscle and has_material_basis_in autosomal dominant inheritance of one or more gene mutations.
Modifier statisitcs
Record:
2
Gene:
1
Variant:
2
Reference:
1
Effect type:
Expressivity(2)
Modifier effect:
Risk factor(2)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| CALM3 | CALM3:-34T>A | Expressivity | Risk factor | P=0.0005 | The -34T>A CALM3 polymorphism is a modifier gene for FHC, potentially by affecting expression level of CALM3 and therefore Ca(2+)-handling and development of hypertrophy.more | more |
| CALM3:rs150954567 | Expressivity | Risk factor | P=0.0005 | The -34T>A CALM3 polymorphism is a modifier gene for FHC, potentially by affecting expression level of CALM3 and therefore Ca(2+)-handling and development of hypertrophy.more | more |
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