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 1074 1390
C0023893 Liver Cirrhosis, Experimental disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Experimental Model of Disease 774 0
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 616 281
C0033578 Prostatic Neoplasms group Neoplasms; Male Urogenital Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system 616 1
C0678222 Breast Carcinoma disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the breast 538 763
C1458155 Mammary Neoplasms group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the breast 527 316
C1257931 Mammary Neoplasms, Human disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 525 0
C4704874 Mammary Carcinoma, Human disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 525 0
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 266 173
C0024121 Lung Neoplasms group Neoplasms; Respiratory Tract Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the respiratory system 265 0
C0004352 Autistic Disorder disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 261 181
C0041696 Unipolar Depression disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health 259 88
C1269683 Major Depressive Disorder disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health 243 1103
C0020538 Hypertensive disease group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 190 233
C0235874 Disease Exacerbation phenotype Pathological Conditions, Signs and Symptoms Finding 165 0
C0027055 Myocardial Reperfusion Injury phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function 85 0
C3711374 Nonsyndromic Deafness disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 81 13
C0037286 Skin Neoplasms group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the integument; Neoplasm 59 2
C0007114 Malignant neoplasm of skin disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the integument; Neoplasm 59 0
C0019284 Diaphragmatic Hernia phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome disease of anatomical entity 41 0
C0001430 Adenoma group Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 36 0
C0205646 Adenoma, Basal Cell disease Neoplasms Neoplastic Process 36 0
C0205647 Follicular adenoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 36 0
C0205648 Adenoma, Microcystic disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 36 0
C0205649 Adenoma, Monomorphic disease Neoplasms Neoplastic Process 36 0