Diseases often caused by TEs include
* Hemophilia A and B
** LINE1 (L1) TEs that land on the human Factor VIII have been shown to cause haemophilia
* Severe combined immunodeficiency
** Insertion of L1 into the APC gene causes colon cancer, confirming that TEs play an important role in disease development.
* Porphyria
**Insertion of Alu element into the PBGD gene leads to interference with the coding region and leads to acute intermittent porphyria (AIP).
* Predisposition to cancer
**LINE1(L1) TE's and other retrotransposons have been linked to cancer because they cause genomic instability.
* Duchenne muscular dystrophy.
**Caused by SVA transposable element insertion in the fukutin (FKTN) gene which renders the gene inactive.
* Alzheimer's Disease and other Tauopathies
** Transposable element dysregulation can cause neuronal death, leading to neurodegenerative disorders