Defects in the regulation of the intrinsic pathway for apoptosis are involved in diseases associated with increased cell loss, such as neurodegenerative diseases, as well as in diseases associated with impaired elimination of harmful cells, such as cancer and autoimmunity. For review, please refer to Reed 2001, Lavrik et al. 2009, and Tuzlak et al. 2016.
So far, Reactome has annotated apoptosis defects associated with the loss of function of the CDKN2A gene product p14ARF in cancer, loss of function of TP53 in cancer, and CDK5 dysregulation in neurodegenerative diseases.