Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0026827 Muscle hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 336 579
C0007193 Cardiomyopathy, Dilated group Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the cardiovascular system 43 443
C0151786 Muscle Weakness phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom Abnormality of the musculature 30 42
C1837142 Poor suck phenotype Finding Abnormality of the digestive system 28 31
C1854301 Motor delay phenotype Mental Disorders Finding Abnormality of the nervous system 27 34
C0949658 Cardiomyopathy, Hypertrophic, Familial disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 24 332
C0240421 Progressive muscle weakness phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding Abnormality of the musculature 12 15
C0349788 Arrhythmogenic Right Ventricular Dysplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome; Congenital Abnormality disease of anatomical entity 11 108
C0027868 Neuromuscular Diseases group Nervous System Diseases Disease or Syndrome disease of anatomical entity 11 38
C1865916 Bilateral ptosis phenotype Eye Diseases Finding Abnormality of the eye 11 14
C0541794 Skeletal muscle atrophy phenotype Pathologic Function Abnormality of the musculature 10 12
C1834481 CARDIOMYOPATHY, DILATED, 1S disease Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 9 41
C0024003 Lordosis phenotype Musculoskeletal Diseases Disease or Syndrome Abnormality of the skeletal system 9 15
C2678065 Myofibrillar Myopathy disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the musculature 7 15
C0522055 Electrocardiogram abnormal phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding Abnormality of the cardiovascular system 5 54
C0751401 Ophthalmoparesis phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom Abnormality of the eye 2 2
C4021815 Abnormal palate morphology disease Finding Abnormality of head or neck 2 2
C1832370 MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 35
C0023211 Left Bundle-Branch Block disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 1 1
C0030590 Paroxysmal supraventricular tachycardia disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 1 1
C1858154 CARDIOMYOPATHY, DILATED, 1I disease Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 1
C1867005 Scapuloperoneal Syndrome, Neurogenic, Kaeser Type disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 1
C3275417 Ragged-red muscle fibers phenotype Finding Abnormality of the musculature 1 1
C4023289 Transitional atrioventricular canal defect disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality Abnormality of the cardiovascular system 1 1