Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0427063 Shoulder girdle weakness phenotype Finding Abnormality of limbs; Abnormality of the musculature 4 4
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
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
C0702166 Acne disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument; Abnormality of the immune system 3 4
C1321329 Slowed saccades phenotype Finding Abnormality of the eye 3 4
C1836767 Proximal lower limb amyotrophy phenotype Finding Abnormality of limbs; Abnormality of the musculature 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
C4021803 Abnormal eyelid morphology disease Anatomical Abnormality Abnormality of head or neck 3 3
C0281788 Biventricular hypertrophy disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 3 2
C1853932 Rimmed vacuoles on biopsy phenotype Finding Abnormality of the musculature 3 2
C1858763 Cardiomyopathy, Dilated, 1g disease Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 2 306
C1837342 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 2 230
C1838244 TIBIAL MUSCULAR DYSTROPHY, TARDIVE disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 2 17
C1863599 Hereditary Myopathy with Early Respiratory Failure disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 2 15
C2673677 Myopathy, Early-Onset, with Fatal Cardiomyopathy disease Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 2 11
C1861065 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 2 7
C0004239 Atrial Flutter phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function Abnormality of the cardiovascular system 2 2
C0340477 Re-entrant atrioventricular tachycardia disease Disease or Syndrome Abnormality of the cardiovascular system 2 2
C3277184 Decreased patellar reflex phenotype Finding Abnormality of the nervous system; Abnormality of limbs 2 2
C3805969 Scapular muscle atrophy phenotype Finding Abnormality of limbs; Abnormality of the musculature 2 2
C4021054 Reduced muscle collagen VI phenotype Finding Abnormality of the musculature 2 2
C4023223 Atrial reentry tachycardia phenotype 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