Source: BEFREE

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C4020732 Mitochondrial abnormalities disease Anatomical Abnormality Abnormality of metabolism/homeostasis; Abnormal cellular phenotype 83 20
C0002395 Alzheimer's Disease disease Nervous System Diseases; Mental Disorders Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the nervous system 3131 968
C0030567 Parkinson Disease disease Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1952 751
C0524851 Neurodegenerative Disorders group Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 1480 85
C1611743 Familial (FPAH) disease Disease or Syndrome 1075 276
C0002736 Amyotrophic Lateral Sclerosis disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the nervous system 1069 411
C0027765 nervous system disorder group Nervous System Diseases Disease or Syndrome disease of anatomical entity 942 39
C0021051 Immunologic Deficiency Syndromes group Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system 857 24
C0002726 Amyloidosis disease Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis 685 93
C0029453 Osteopenia disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome Abnormality of the skeletal system 650 38
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
C0442874 Neuropathy group Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 477 75
C0338451 Frontotemporal dementia disease Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome genetic disease; disease of anatomical entity; disease of mental health Abnormality of the nervous system 304 151
C0030552 Paresis phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 213 49
C0007786 Brain Ischemia disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system; Abnormality of the cardiovascular system 211 5
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
C4024896 Motor neuron atrophy disease Disease or Syndrome Abnormality of the nervous system 137 21
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
C3714796 Isolated somatotropin deficiency disease Disease or Syndrome Abnormality of the nervous system; Abnormality of the endocrine system 96 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