Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1269955 Tumor Cell Invasion phenotype Neoplastic Process 6626 169
C4722085 Malignant neoplasm of colon and/or rectum disease Neoplastic Process 3669 502
C1611743 Familial (FPAH) disease Disease or Syndrome 1075 276
C1608408 Malignant transformation phenotype Neoplastic Process 1027 20
C3854222 Human immunodeficiency virus (HIV) II infection category B1 disease Disease or Syndrome 985 56
C0751606 Adult Acute Lymphocytic Leukemia disease Neoplastic Process disease of anatomical entity; disease of cellular proliferation 860 154
C4529962 Fatty Liver Disease disease Disease or Syndrome 741 81
C0856169 Endothelial dysfunction phenotype Disease or Syndrome 716 25
C0374997 Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site disease Disease or Syndrome 593 24
C4524092 Chronic rhinosinusitis with nasal polyps disease Neoplastic Process 168 1
C3495917 Advanced breast cancer disease Neoplastic Process 151 3
C1629609 Age at menopause phenotype Finding 129 209
C1510885 Angiogenic Switch disease Neoplastic Process 96 3
C0549523 Oropharynx (excludes nasopharynx) disease Disease or Syndrome 94 5
C1167791 Skin toxicity disease Disease or Syndrome 62 24
C1504336 Polypoidal choroidal vasculopathy disease Disease or Syndrome Abnormality of the eye 56 67
C0342776 Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency disease Disease or Syndrome 51 4
C0272170 Shwachman syndrome disease Disease or Syndrome syndrome 49 13
C2732618 Sessile Serrated Adenoma/Polyp disease Neoplastic Process 48 6
C4551761 Excessive daytime sleepiness phenotype Sign or Symptom Abnormality of the nervous system 46 5
C0282666 Very Low Birth Weight phenotype Sign or Symptom 42 2
C1096293 Macroangiopathy disease Disease or Syndrome 31 6
C3542025 AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE disease Disease or Syndrome genetic disease; disease of anatomical entity 31 54
C3160761 Diabetic dyslipidaemia disease Disease or Syndrome 28 11
C1096249 Calcification of the aorta phenotype Pathologic Function Abnormality of the skeletal system; Abnormality of the cardiovascular system 21 0