Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C2919142 Short Stature, CTCAE phenotype Finding 1010 0
C1963184 Nystagmus, CTCAE 3.0 phenotype Finding 779 0
C4554036 Nystagmus, CTCAE 5.0 phenotype Finding 779 0
C4553743 Spasticity, CTCAE phenotype Finding 477 0
C3665347 Visual Impairment phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding Abnormality of the eye 422 0
C4552810 Irritability, CTCAE phenotype Finding 140 0
C4552811 Generalized Muscle Weakness, CTCAE phenotype Finding 117 0
C0242698 Ventricular Dysfunction, Left phenotype Cardiovascular Diseases Pathologic Function 88 0
C3179349 Gastrointestinal Stromal Sarcoma disease Digestive System Diseases; Neoplasms Neoplastic Process 74 0
C3160712 Palpitations, CTCAE phenotype Finding 64 0
C1855038 Hepatocellular necrosis phenotype Disease or Syndrome Abnormality of the digestive system 41 0
C1850597 Leigh Syndrome Due To Mitochondrial Complex II Deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 36 0
C1850600 Leigh Syndrome due to Mitochondrial Complex V Deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 36 0
C2931891 Necrotizing encephalopathy, infantile subacute, of Leigh disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 36 0
C4024609 Decreased activity of mitochondrial respiratory chain phenotype Finding Abnormality of metabolism/homeostasis; Abnormal cellular phenotype 34 0
C0156181 Peritoneal adhesion disease Digestive System Diseases; Skin and Connective Tissue Diseases Acquired Abnormality 32 0
C4020730 Increased intramyocellular lipid droplets phenotype Finding Abnormality of the musculature 27 0
C0751559 Pulsatile Tinnitus disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome Abnormality of the ear 23 0
C1857171 Episodic hyperhidrosis phenotype Skin and Connective Tissue Diseases Finding Abnormality of the integument 20 0
C0521670 Cranial nerve compression disease Nervous System Diseases; Wounds and Injuries Disease or Syndrome Abnormality of the nervous system 19 0
C1868394 Elevated calcitonin phenotype Finding Abnormality of the endocrine system 17 0
C0522357 Vertigo, Paroxysmal phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom Abnormality of the ear 16 0
C4293708 Recurrent paroxysmal headache phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Abnormality of the nervous system 16 0
C4022998 Arachnoid hemangiomatosis phenotype Neoplasms Finding Neoplasm; Abnormality of the cardiovascular system 15 0
C4023099 Elevated urinary dopamine phenotype Finding Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system 15 0