Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0522055 Electrocardiogram abnormal phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding Abnormality of the cardiovascular system 5 54
C0033847 Pseudoxanthoma Elasticum disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 2 312
C0332563 Papule phenotype Pathological Conditions, Signs and Symptoms Finding Abnormality of the integument 2 131
C0002962 Angina Pectoris phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Sign or Symptom Abnormality of the cardiovascular system 2 51
C0241148 Cutaneous plaque phenotype Finding Abnormality of the integument 1 107
C0035317 Retinal Hemorrhage phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Disease or Syndrome Abnormality of blood and blood-forming tissues; Abnormality of the eye; Abnormality of the cardiovascular system 1 86
C0021775 Intermittent Claudication phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 1 65
C1867453 Peau d'orange retinal changes phenotype Finding 1 16