Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C4722085 Malignant neoplasm of colon and/or rectum disease Neoplastic Process 3669 502
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
C0747845 early pregnancy phenotype Disease or Syndrome 273 8
C3160718 PARKINSON DISEASE, LATE-ONSET disease Disease or Syndrome disease of anatomical entity 247 76
C0221505 Lesion of brain group Disease or Syndrome 188 9
C0220810 Congenital defects group Congenital Abnormality 126 6
C1963943 Atherothrombosis disease Acquired Abnormality 115 15
C0810364 Cleft Lip with or without Cleft Palate disease Congenital Abnormality 99 50
C4321245 Cleft lip or lips phenotype Anatomical Abnormality Abnormality of head or neck 78 37
C1334177 Infiltrating Cervical Carcinoma disease Neoplastic Process 76 13
C1167791 Skin toxicity disease Disease or Syndrome 62 24
C1853238 Conotruncal defect disease Congenital Abnormality Abnormality of the cardiovascular system 51 45
C0282666 Very Low Birth Weight phenotype Sign or Symptom 42 2
C3826044 Lymphoblastic leukemia in children disease Neoplastic Process 19 2
C3266076 Orofacial cleft disease Congenital Abnormality 18 2
C3714941 OTOFACIOCERVICAL SYNDROME 1 disease Disease or Syndrome 16 10
C1856058 HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY disease Disease or Syndrome genetic disease; disease of metabolism 5 78
C0221165 Diplegia disease Disease or Syndrome 4 2
C4024948 Anterior encephalocele disease Congenital Abnormality Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the skeletal system 3 5
C0011570 Mental Depression disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction disease of mental health 1478 271
C0344315 Depressed mood phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction disease of mental health 1461 269
C0233514 Abnormal behavior phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction Abnormality of the nervous system 910 121
C0020538 Hypertensive disease group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 2322 1085
C0004153 Atherosclerosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 2044 281