Source: UNIPROT

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0031511 Pheochromocytoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the nervous system; Abnormality of the endocrine system; Neoplasm 7 41
C0376358 Malignant neoplasm of prostate disease Neoplasms; Male Urogenital Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system 7 35
C1321872 Stage IV Skin Melanoma disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 7 24
C3891448 NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO disease Finding 7 17
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 7 12
C0242379 Malignant neoplasm of lung disease Neoplasms; Respiratory Tract Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the respiratory system 7 7
C1168401 Squamous cell carcinoma of the head and neck disease Neoplasms Neoplastic Process disease of cellular proliferation 7 2
C0039685 Tetralogy of Fallot disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality disease of anatomical entity Abnormality of the cardiovascular system 6 16
C1857586 CONOTRUNCAL HEART MALFORMATIONS (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 6 7
C1858991 Childhood Ataxia with Central Nervous System Hypomyelinization disease Nervous System Diseases Disease or Syndrome disease of anatomical entity 5 31
C0024623 Malignant neoplasm of stomach disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 5 12
C2750850 GLIOMA SUSCEPTIBILITY 1 phenotype Finding 5 8
C0346163 Endometrioid carcinoma ovary disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 5 3
C1833104 DIABETES MELLITUS, PERMANENT NEONATAL disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome genetic disease; disease of metabolism 4 50
C0011195 Dejerine-Sottas Disease (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 4 19
C0349639 Juvenile Myelomonocytic Leukemia disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues 4 16
C0023480 Leukemia, Myelomonocytic, Chronic disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues 4 15
C4225426 THYROID CANCER, NONMEDULLARY, 2 disease Neoplastic Process disease of anatomical entity; disease of cellular proliferation 4 8
C0017638 Glioma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the nervous system; Neoplasm 4 7
C0162671 MELAS Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 4 7
C0268389 Amyloidosis, familial visceral disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism 4 7
C1275808 Congenital central hypoventilation disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 4 6
C1336708 Testicular Germ Cell Tumor disease Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 4 5
C0023418 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 4 4
C0024305 Lymphoma, Non-Hodgkin disease 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 4 4