Source: GWASCAT

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0008925 Cleft Palate disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality syndrome; physical disorder 47 109
C0003872 Arthritis, Psoriatic disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome syndrome 36 44
C0032460 Polycystic Ovary Syndrome disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome syndrome Abnormality of the genitourinary system 20 44
C0039263 Takayasu Arteritis disease Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome syndrome 20 36
C0022104 Irritable Bowel Syndrome disease Digestive System Diseases Disease or Syndrome syndrome 1 1
C0848558 Hypospadias disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality physical disorder Abnormality of the genitourinary system 18 24
C1844020 HETEROTAXY, VISCERAL, 1, X-LINKED disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome physical disorder 1 2
C3151867 CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED disease Disease or Syndrome physical disorder 1 2
C0524620 Metabolic Syndrome X disease Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; syndrome 55 124
C0024419 Waldenstrom Macroglobulinemia disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process genetic disease; disease of metabolism; disease of anatomical entity; disease of cellular proliferation Abnormality of metabolism/homeostasis; Abnormality of the immune system; Neoplasm; Abnormal cellular phenotype; Abnormality of blood and blood-forming tissues 0 3
C0011854 Diabetes Mellitus, Insulin-Dependent disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome genetic disease; disease of metabolism Abnormality of metabolism/homeostasis; Abnormality of the endocrine system 104 198
C0400966 Non-alcoholic Fatty Liver Disease disease Digestive System Diseases Disease or Syndrome genetic disease; disease of metabolism 18 37
C0012715 Iron Metabolism Disorders group Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 1 1
C0017205 Gaucher Disease disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 1 1
C0392514 Hereditary hemochromatosis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 1 1
C3469186 HEMOCHROMATOSIS, TYPE 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 1 1
C0265240 Goldenhar Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome genetic disease; disease of anatomical entity; syndrome 6 11
C0338451 Frontotemporal dementia disease Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome genetic disease; disease of anatomical entity; disease of mental health Abnormality of the nervous system 14 23
C0002395 Alzheimer's Disease disease Nervous System Diseases; Mental Disorders Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the nervous system 282 744
C0010346 Crohn Disease disease Digestive System Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 239 616
C0009324 Ulcerative Colitis disease Digestive System Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 211 464
C0030567 Parkinson Disease disease Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 85 156
C0242383 Age related macular degeneration disease Eye Diseases Disease or Syndrome genetic disease; disease of anatomical entity 62 123
C0002736 Amyotrophic Lateral Sclerosis disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the nervous system 28 45
C1842675 AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) disease Disease or Syndrome genetic disease; disease of anatomical entity 26 51