Source: BEFREE

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0006142 Malignant neoplasm of breast disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 6481 2154
C0017636 Glioblastoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 3131 157
C0280474 Childhood Glioblastoma disease Neoplasms Neoplastic Process 2527 98
C0278878 Adult Glioblastoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 2527 98
C4086165 Childhood Neuroblastoma disease Neoplasms Neoplastic Process 2420 231
C0700095 Central neuroblastoma disease Neoplasms; Nervous System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 2419 231
C0030567 Parkinson Disease disease Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1952 751
C1611743 Familial (FPAH) disease Disease or Syndrome 1075 276
C0027765 nervous system disorder group Nervous System Diseases Disease or Syndrome disease of anatomical entity 942 39
C0019348 Herpes Simplex Infections group Infections; Skin and Connective Tissue Diseases Disease or Syndrome disease by infectious agent 624 11
C0271650 Impaired glucose tolerance phenotype Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism 555 80
C2745900 Promyelocytic leukemia disease Neoplastic Process 255 2
C0235031 Neurologic Symptoms group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 228 30
C0030552 Paresis phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 213 49
C0008354 Cholera disease Infections Disease or Syndrome disease by infectious agent 208 1
C0085084 Motor Neuron Disease disease Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 171 35
C0038868 Progressive supranuclear palsy disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 167 37
C0019202 Hepatolenticular Degeneration disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism; disease of anatomical entity 129 50
C1862941 Amyotrophic Lateral Sclerosis, Sporadic disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 111 43
C0426980 Motor symptoms phenotype Sign or Symptom 100 15
C1862939 AMYOTROPHIC LATERAL SCLEROSIS 1 disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 90 55
C4551993 Amyotrophic Lateral Sclerosis, Familial disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 86 68
C0268237 Cytochrome-c Oxidase Deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome; Congenital Abnormality genetic disease; disease of metabolism 55 5
C4479344 SCLEROSING CHOLANGITIS, NEONATAL disease Disease or Syndrome 38 3
C0752130 Spinal Cord Ischemia disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 33 3