Source: UNIPROT

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1855114 Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 1 78
C0017921 Glycogen storage disease type II disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 1 77
C0027831 Neurofibromatosis 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process genetic disease 1 72
C0393808 Charcot-Marie-Tooth disease, X-linked, 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 72
C1848634 USHER SYNDROME, TYPE IIA disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome genetic disease; syndrome 1 72
C0085548 Autosomal Recessive Polycystic Kidney Disease disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 71
C0751202 Cystathionine beta-Synthase Deficiency Disease disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 1 68
C4082171 Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 1 67
C0015503 Factor VII Deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of blood and blood-forming tissues 1 66
C0403399 Finnish congenital nephrotic syndrome disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 66
C1861862 Familial Hypertrophic Cardiomyopathy Type 4 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 1 64
C0085390 Li-Fraumeni Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease 1 63
C0015523 Hereditary Factor XI Deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome genetic disease Abnormality of blood and blood-forming tissues 1 56
C0019562 Von Hippel-Lindau Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity; disease of cellular proliferation 1 56
C0023522 Leukodystrophy, Metachromatic disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 1 56
C0340968 Deficiency of pyruvate kinase disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 56
C3714753 RETINOSCHISIS 1, X-LINKED, JUVENILE disease Disease or Syndrome genetic disease; disease of anatomical entity 1 56
C4551504 Oculocutaneous albinism type 1A disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome genetic disease 1 56
C0342788 Renal carnitine transport defect disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of metabolism 1 55
C0086651 Mucopolysaccharidosis, MPS-IV-A disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome genetic disease; disease of metabolism 1 54
C0751951 Central Core Myopathy (disorder) disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 54
C3149841 POLYCYSTIC KIDNEY DISEASE 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 54
C0008533 Hemophilia B disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 53
C0268413 Adult hypophosphatasia (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease 1 53
C0410190 Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 52