Source: CURATED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0023893 Liver Cirrhosis, Experimental disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Experimental Model of Disease 774 0
C0014175 Endometriosis disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system 161 80
C0269102 Endometrioma disease Female Urogenital Diseases and Pregnancy Complications Neoplastic Process disease of anatomical entity 161 0
C0239946 Fibrosis, Liver disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome Abnormality of the digestive system 105 1
C0023890 Liver Cirrhosis disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system 103 20
C0878659 Disproportionate short stature phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Finding Growth abnormality 77 6
C4707243 Familial thoracic aortic aneurysm and aortic dissection disease Disease or Syndrome disease of anatomical entity 53 442
C0020456 Hyperglycemia disease Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis 30 30
C1855520 Hyperglycemia, Postprandial phenotype Nutritional and Metabolic Diseases Finding Abnormality of metabolism/homeostasis 30 0
C0020459 Hyperinsulinism disease Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism; disease of anatomical entity Abnormality of metabolism/homeostasis; Abnormality of the endocrine system 28 5
C1257963 Endogenous Hyperinsulinism disease Nutritional and Metabolic Diseases Disease or Syndrome 26 0
C1257964 Exogenous Hyperinsulinism disease Nutritional and Metabolic Diseases Disease or Syndrome 26 0
C1257965 Compensatory Hyperinsulinemia disease Nutritional and Metabolic Diseases Disease or Syndrome 26 0
C0024796 Marfan Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 11 997
C4721845 Marfan Syndrome, Type I disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 9 0
C0162872 Aortic Aneurysm, Thoracic disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 7 60
C0340630 Aortic Aneurysm, Thoracoabdominal disease Cardiovascular Diseases Disease or Syndrome 7 0
C0265287 Acromicric Dysplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality disease of anatomical entity 5 27
C3489726 Geleophysic dysplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 5 6
C0003496 Aortic Rupture disease Cardiovascular Diseases; Wounds and Injuries Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 5 0
C0741160 Aortic Aneurysm, Ruptured disease Cardiovascular Diseases; Wounds and Injuries Disease or Syndrome disease of anatomical entity 5 0
C0003706 Arachnodactyly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system; Growth abnormality 4 24
C1869115 Weill-Marchesani Syndrome, Autosomal Dominant disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome genetic disease 3 23
C0265313 Weill-Marchesani syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome genetic disease 3 1
C1869114 Weill-Marchesani Syndrome, Autosomal Recessive disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome genetic disease 3 0