Source: BEFREE

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C2931928 Mitochondrial cytopathy disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 4 3
C0205858 General Paralysis disease Infections; Nervous System Diseases Disease or Syndrome disease of anatomical entity; disease by infectious agent 12 3
C3825201 Mitochondrial pathology phenotype Disease or Syndrome 20 6
C0037926 Compression of spinal cord disease Nervous System Diseases; Wounds and Injuries Disease or Syndrome Abnormality of the nervous system 28 1
C0231230 Fatigability phenotype Sign or Symptom 29 4
C0752130 Spinal Cord Ischemia disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 33 3
C4479344 SCLEROSING CHOLANGITIS, NEONATAL disease Disease or Syndrome 38 3
C0004941 Behavioral Symptoms group Behavior and Behavior Mechanisms Sign or Symptom Abnormality of the nervous system 45 9
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
C0162670 Mitochondrial Myopathies group Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the musculature 66 10
C0234958 Muscle degeneration disease Musculoskeletal Diseases Disease or Syndrome Abnormality of the musculature 70 3
C4020732 Mitochondrial abnormalities disease Anatomical Abnormality Abnormality of metabolism/homeostasis; Abnormal cellular phenotype 83 20
C0011168 Deglutition Disorders group Digestive System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome Abnormality of the digestive system; Abnormality of the nervous system; Abnormality of head or neck 84 11
C4551993 Amyotrophic Lateral Sclerosis, Familial disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 86 68
C1862939 AMYOTROPHIC LATERAL SCLEROSIS 1 disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 90 55
C3714796 Isolated somatotropin deficiency disease Disease or Syndrome Abnormality of the nervous system; Abnormality of the endocrine system 96 15
C0426980 Motor symptoms phenotype Sign or Symptom 100 15
C1862941 Amyotrophic Lateral Sclerosis, Sporadic disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 111 43
C1136033 Cutaneous Mastocytosis disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity Abnormality of the integument; Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues 127 13
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
C4024896 Motor neuron atrophy disease Disease or Syndrome Abnormality of the nervous system 137 21
C0038868 Progressive supranuclear palsy disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 167 37
C0085084 Motor Neuron Disease disease Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 171 35
C0008354 Cholera disease Infections Disease or Syndrome disease by infectious agent 208 1
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