List of Diseases

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
• Spinal Muscular Atrophy
• Hutchison-Gilford Progeria Syndrome

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 Tumours 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