Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1269955 Tumor Cell Invasion phenotype Neoplastic Process 6626 169
C1611743 Familial (FPAH) disease Disease or Syndrome 1075 276
C1397307 Cardiac fibrosis disease Disease or Syndrome 297 3
C0241005 Creatine phosphokinase serum increased phenotype Finding genetic disease; disease of metabolism Abnormality of metabolism/homeostasis 228 43
C1858430 Death in infancy phenotype Finding 146 7
C0476403 Electromyogram abnormal phenotype Finding Abnormality of the musculature 130 12
C0741923 cardiac event phenotype Disease or Syndrome 82 18
C1821417 RESTING HEART RATE phenotype Finding 80 134
C0429028 QT interval feature (observable entity) phenotype Clinical Attribute 75 226
C0427515 Neutrophil abnormality phenotype Finding Abnormality of the immune system; Abnormality of blood and blood-forming tissues 74 1
C3160712 Palpitations, CTCAE phenotype Finding 64 0
C0741916 Cardiac defects group Disease or Syndrome 62 2
C0429087 Electrocardiogram: P-R interval phenotype Finding 57 138
C4022012 Death in early adulthood phenotype Finding 46 2
C1560249 Adverse Event Associated with Cardiac Arrhythmia phenotype Disease or Syndrome 42 5
C0429097 QRS complex feature phenotype Finding 41 69
C4285910 Obstructive sleep apnea hypopnea syndrome disease Disease or Syndrome 41 7
C0391957 idiopathic epilepsy disease Disease or Syndrome 30 3
C1560305 Prolonged QTc interval phenotype Pathologic Function Abnormality of the cardiovascular system 25 1
C1963217 Prolonged QTc Interval, CTCAE phenotype Finding 25 0
C4025797 Abnormality of prenatal development or birth disease Finding Abnormality of prenatal development or birth 23 0
C1839341 Abnormal T-wave phenotype Finding Abnormality of the cardiovascular system 20 0
C1963175 Sinus Bradycardia, CTCAE phenotype Finding 20 0
C2108107 continuous electrocardiogram sinus bradycardia (finding) phenotype Finding 20 0
C0855329 Electrocardiogram change phenotype Finding 18 27