ATXN2 and type 1 diabetes mellitus: Additionally, genome‐wide association studies had shown that loss‐of‐function mutations in ATXN2 gene may be associated with susceptibility to type I diabetes, obesity and hypertension, while NOTCH1 gene mutations were associated with aortic value disease, Adams‐Oliver syndrome, T‐cell acute lymphoblastic leukemia, chronic lymphocytic leukemia, and head and neck squamous cell carcinoma.