List of Diseases

List of diseases caused by missplicing

Splicing mutations associated with variable phenotypes

• Becker muscular dystrophy
• Cystic fibrosis
• Deficiency of the MCAD enzyme
• Familial Dysautonomia
• Menke disease
• Occipital horn syndrome
• Pyruvate dehydrogenase deficiency
• Retinitis pigmentosa
• Sandhoff disease
• Hutchinson-Gilford Progeria Syndrome
• Spinal muscular atrophy (SMA)
  

Human diseases associated with changes in the relative levels of alternative spliced isoforms

• Breast cancer
• Fragile X syndrome
• Frasier syndrome
• Frontotemporal dementia with Parkinsonism linked to Chromosome 17
• Facioscapulohumeral Muscular Dystrophy (FSHD)
• Gastric cancer
• Giant cell tumors of bones
• Growth hormone deficiency type II
• Head and neck squamous cell carcinoma
• Lung cancer
• Lymphoma
• Melanoma
• Myotonic dystrophy
• Neoplasia
• Neurofibromatosis type II
• Oral and oropharyngeal cancers
• Ovarian cancer
• Papillary thyroid cancer
• Prader Willi syndrome
• Prostate cancer
• Renal and urothelial cancers
• Wilms tumour