NKX2-5 and coronary artery disorder: However, aggregating evidence indicates that genetic components exert a key effect on the occurrence of CHD, and in addition to chromosomal alterations (aneuploidies) and copy number variations, pathogenic mutations in >100 genes, including TBX20, NKX2.5, and MYOCD, have been involved in the occurrence of CHD [2, 10–14].