| Other morbid association(s)
|
| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
|---|
| constitutional
| germinal mutation
|
|
|
| |
associated with a complex spectrum of developmental and functional abnormalities, including defects in septation, valvulogenesis, and chamber growth and dilated cardiomyopathy | | constitutional
| germinal mutation
|
|
|
|
also associated with ASD and mitral valve disease  | | constitutional
|
|
| --over
|
| |
in ventricular tissue from CHD patients which may cause an increased activity in cardiomyocytes | | constitutional
| germinal mutation
|
|
| gain of function
| |
is associated with congenital atrial septal defects, patent foramen ovale and cardiac valve defects | |
