| |
Affected Tissue/Organ |
Chromosome |
Gene Product |
Gene Symbol |
# of Mutation Entry |
Disease Name |
Curator |
|
developmental anomalies |
5 |
homeobox NKX2-5 |
CSX |
4 |
congenital heart disease, non-syndromic |
Keio Univ. DMB. |
|
developmental anomalies |
6 |
43-kd gap-junction protein |
GJA1 |
12 |
heart malformations |
Keio Univ. DMB. |
|
arrhythmias |
21 |
cardiac potassium-channel protein minK |
KCNE1 |
8 |
long QT syndrome |
Keio Univ. DMB. |
|
|
|
|
|
|
Jervell and Lange-Nielsen syndrome |
|
|
cardiomyopathy |
1 |
Troponin T2, cardiac |
TNNT2 |
11 |
hypertropic cardiomyopathy |
Keio Univ. DMB. |
|
cardiomyopathy |
12 |
myosin, light chain, regulatory ventricular |
MYL2 |
5 |
hypertrophic cardiomyopathy |
Keio Univ. DMB. |
|
cardiomyopathy |
11 |
myosin-binding protein C |
MYBPC3 |
23 |
familial hypertropic cardiomyopathy |
Keio Univ. DMB. |