Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C3277226 Restrictive ventilatory defect phenotype Finding Abnormality of the respiratory system 7 8
C4021133 Left ventricular noncompaction cardiomyopathy disease Pathological Conditions, Signs and Symptoms Disease or Syndrome Abnormality of the cardiovascular system 7 14
C0030252 Palpitations phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Finding Abnormality of the cardiovascular system 6 7
C0079352 Congenital torticollis disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the musculature 6 6
C0023212 Left-Sided Heart Failure disease Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 4 4
C0085612 Ventricular arrhythmia disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 4 3
C0151636 Premature ventricular contractions phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 4 3
C0235063 Respiratory Depression phenotype Respiratory Tract Diseases Pathologic Function Abnormality of the respiratory system 4 5
C0427063 Shoulder girdle weakness phenotype Finding Abnormality of limbs; Abnormality of the musculature 4 4
C0558845 Reflex, Ankle, Absent phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system; Abnormality of limbs 4 5
C1839832 Noncompaction cardiomyopathy disease Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 4 5
C1856872 Down-sloping shoulders phenotype Finding Abnormality of the skeletal system 4 4
C1858033 Asymmetry of the thorax phenotype Finding Abnormality of the skeletal system 4 4
C0281788 Biventricular hypertrophy disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 3 2
C1321329 Slowed saccades phenotype Finding Abnormality of the eye 3 4
C1698196 Muscle Weakness Upper Limb phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding Abnormality of limbs; Abnormality of the musculature 3 3
C1836767 Proximal lower limb amyotrophy phenotype Finding Abnormality of limbs; Abnormality of the musculature 3 4
C1853932 Rimmed vacuoles on biopsy phenotype Finding Abnormality of the musculature 3 2
C4021803 Abnormal eyelid morphology disease Anatomical Abnormality Abnormality of head or neck 3 3
C0004239 Atrial Flutter phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function Abnormality of the cardiovascular system 2 2
C0151517 Complete atrioventricular block disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 2 1
C0340477 Re-entrant atrioventricular tachycardia disease Disease or Syndrome Abnormality of the cardiovascular system 2 2
C0428974 Supraventricular arrhythmia phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 2 1
C1836118 LEFT VENTRICULAR NONCOMPACTION 2 disease Disease or Syndrome 2 1
C2673677 Myopathy, Early-Onset, with Fatal Cardiomyopathy disease Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 2 11