Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0006826 Malignant Neoplasms group Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 8621 1641
C1306459 Primary malignant neoplasm group Neoplasms Neoplastic Process disease of cellular proliferation 8221 1374
C0007102 Malignant tumor of colon disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 2969 688
C0699790 Colon Carcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 2832 275
C0004096 Asthma disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of the respiratory system 2096 1536
C0085669 Acute leukemia disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues 639 50
C0021364 Male infertility phenotype Male Urogenital Diseases Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system 516 146
C0007113 Rectal Carcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 472 112
C0029172 Oral Submucous Fibrosis disease Stomatognathic Diseases Disease or Syndrome disease of anatomical entity 106 8
C1827377 Slow acetylator due to N-acetyltransferase enzyme variant disease Disease or Syndrome 20 8
C3203670 NAT2 polymorphism disease Disease or Syndrome 3 4