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. |