Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0344911 Left ventricular dilatation disease Congenital Abnormality 17 3
C1861861 CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder) disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 21 24
C0268575 Isovaleryl-CoA dehydrogenase deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 22 55
C0268790 Renal vascular disorder group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 22 6
C0020540 Malignant Hypertension disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 23 2
C1096293 Macroangiopathy disease Disease or Syndrome 31 6
C0598428 genetic hypertension disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 34 2
C0333559 Infarction, Lacunar disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 36 18
C0035067 Renal Artery Stenosis disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome Abnormality of the genitourinary system; Abnormality of the cardiovascular system 37 8
C1860224 ABLEPHARON-MACROSTOMIA SYNDROME disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases Disease or Syndrome genetic disease; syndrome 41 14
C1277187 Left ventricular systolic dysfunction disease Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 41 11
C0152451 Chronic glomerulonephritis disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 41 7
C0342882 Familial hypercholesterolemia - heterozygous disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 42 34
C4551858 Vesicoureteral Reflux 1 disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome disease of anatomical entity 47 10
C0029899 Otosclerosis disease Otorhinolaryngologic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the ear 49 11
C1135191 Heart Failure, Systolic disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 49 6
C0403447 Chronic Kidney Insufficiency disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome disease of anatomical entity 52 12
C0848548 hypertensive nephropathy disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 55 8
C0340100 High altitude pulmonary edema disease Respiratory Tract Diseases Disease or Syndrome 56 45
C1719495 Aggressive periodontitis, generalized disease Stomatognathic Diseases Disease or Syndrome 56 16
C0155765 Disease of capillaries group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 61 5
C0339510 Vitelliform Macular Dystrophy disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 74 120
C0020545 Hypertension, Renovascular disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system; Abnormality of the cardiovascular system 78 8
C0020651 Hypotension, Orthostatic phenotype Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the nervous system; Abnormality of the cardiovascular system 82 21
C0949658 Cardiomyopathy, Hypertrophic, Familial disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 83 355