Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C2751492 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 1 43
C2750824 Dystransthyretinemic Euthyroidal Hyperthyroxinemia disease Endocrine System Diseases Disease or Syndrome disease of anatomical entity 1 3
C0007286 Carpal Tunnel Syndrome disease Nervous System Diseases; Wounds and Injuries Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 1 3