Table 1.

Transposable elements and their associated human diseases.

Type of TE	Genetic Disorder/Disease	References
LINE-1 promotor hypomethylation.	Lung, Colon, Pancreatic, Ovarian Cancer	[120]
LINE-1 insertion in exon 14 of factor VIII gene	Hemophilia A	[11]
LINE-1 insertion	Familial Retinoblastoma	[22]
LINE-1 insertion in 3′noncoding region of fukutin gene	Fukuyama type congenital muscular dystrophy	[121]
LINE-1 insertion in DMD gene	Duchene muscular dystrophy	[122]
LINE-1 intronic insertion in RP2 gene	Retinis pigmentosa	[123]
LINE-1 insertion	Coffin-Lowry Syndrome	[124]
LINE-1 insertion in PDHX gene	Pyruvate dehydrogenase complex deficiency.	[125]
Alu insertion in exon 1 of CD40LG gene	Higm Syndrome	[126]
Alu insertion in CLCN5 gene	Dent’s Disease	[127]
Alu intronic insertion in NF1 gene	Neurofibromatosis type1	[18]
Alu insertions	Colon, Breast, Ovarian Cancer	[20,128,129]
Alu insertion in APC gene	Leukemia	[130]
Alu insertion in QAT gene	OAT deficiency	[131]
Alu insertion in COL4A3 gene	Alport Syndrome	[132]
SVA insertion in exon 6 of factor VIII gene	Hemophilia B	[133]
SVA insertion in intron 7 of PMS gene	Lynch syndrome	[134]