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Mutation data in current KMheartDB

  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.