Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0878544 Cardiomyopathies group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 45 172
C1112256 Sensorimotor neuropathy disease Disease or Syndrome Abnormality of the nervous system 14 17
C0002871 Anemia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 11 14
C0013363 Dysautonomia disease Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 9 9
C0030312 Pancytopenia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 9 9
C2678065 Myofibrillar Myopathy disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the musculature 7 15
C0032285 Pneumonia disease Infections; Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of the respiratory system 7 10
C1855710 Bone marrow hypocellularity phenotype Finding Abnormality of blood and blood-forming tissues 5 5
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
C3151470 AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED disease Disease or Syndrome genetic disease; disease of metabolism 1 5
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
C2750824 Dystransthyretinemic Euthyroidal Hyperthyroxinemia disease Endocrine System Diseases Disease or Syndrome disease of anatomical entity 1 3
C3151471 AMYLOID CARDIOMYOPATHY, TRANSTHYRETIN-RELATED disease Disease or Syndrome genetic disease; disease of metabolism 1 1
C3468338 CARPAL TUNNEL SYNDROME, FAMILIAL disease Disease or Syndrome 1 1
C4275067 Transthyretin related familial amyloid cardiomyopathy disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 1