While mutations in CDH2 have not thus far been associated with human disease, alterations in expression and integrity of N-cadherin protein has been observed in various forms of disease, including human dilated cardiomyopathy.
Aínda que as mutacións en CDH2 ata agora non foron asociadas con doenzas humanas, as alteracións na expresión e integridade da proteína N-cadherina observáronse en varias formas de doenzas, como a cardiomiopatía dilatada humana.