Source: BEFREE

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0023487 Acute Promyelocytic Leukemia disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues 629 21
C0278878 Adult Glioblastoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 2527 98
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
C0002726 Amyloidosis disease Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis 685 93
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
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
C1862941 Amyotrophic Lateral Sclerosis, Sporadic disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 111 43
C0079731 B-Cell Lymphomas group Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of blood and blood-forming tissues 1375 42
C0004941 Behavioral Symptoms group Behavior and Behavior Mechanisms Sign or Symptom Abnormality of the nervous system 45 9
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
C0678222 Breast Carcinoma disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the breast 6500 2145
C0700095 Central neuroblastoma disease Neoplasms; Nervous System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 2419 231
C0280474 Childhood Glioblastoma disease Neoplasms Neoplastic Process 2527 98
C4086165 Childhood Neuroblastoma disease Neoplasms Neoplastic Process 2420 231
C0008354 Cholera disease Infections Disease or Syndrome disease by infectious agent 208 1
C0037926 Compression of spinal cord disease Nervous System Diseases; Wounds and Injuries Disease or Syndrome Abnormality of the nervous system 28 1
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
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
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
C1611743 Familial (FPAH) disease Disease or Syndrome 1075 276
C0231230 Fatigability phenotype Sign or Symptom 29 4
C0015672 Fatigue phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Constitutional symptom 445 48
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
C0205858 General Paralysis disease Infections; Nervous System Diseases Disease or Syndrome disease of anatomical entity; disease by infectious agent 12 3