Source: UNIPROT

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 579 375
C0009402 Colorectal Carcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 460 370
C0278883 Metastatic melanoma disease Neoplasms Neoplastic Process 54 20
C0278701 Gastric Adenocarcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 41 30
C1335167 Ovarian Mucinous Adenocarcinoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 31 17
C1335177 Ovarian Serous Adenocarcinoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 23 7
C3165106 Infiltrating duct carcinoma of female breast disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 21 10
C1335302 Pancreatic Ductal Adenocarcinoma disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 11 6
C0684249 Carcinoma of lung disease Neoplasms; Respiratory Tract Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 10 14
C0023264 Leigh Disease disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 9 21
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
C1168401 Squamous cell carcinoma of the head and neck disease Neoplasms Neoplastic Process disease of cellular proliferation 7 2
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
C1857586 CONOTRUNCAL HEART MALFORMATIONS (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 6 7
C0024623 Malignant neoplasm of stomach disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 5 12
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
C1858991 Childhood Ataxia with Central Nervous System Hypomyelinization disease Nervous System Diseases Disease or Syndrome disease of anatomical entity 5 31
C2750850 GLIOMA SUSCEPTIBILITY 1 phenotype Finding 5 8
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
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
C1833104 DIABETES MELLITUS, PERMANENT NEONATAL disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome genetic disease; disease of metabolism 4 50