CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0000772 Multiple congenital anomalies group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 17 350
C0001418 Adenocarcinoma group Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 116 1
C0003081 Anisometropia disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 1 1
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 80 891
C0004352 Autistic Disorder disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 261 181
C0004565 Melanoma, B16 disease Neoplasms Neoplastic Process; Experimental Model of Disease 7 0
C0006118 Brain Neoplasms group Neoplasms; Nervous System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the nervous system; Neoplasm 39 122
C0006142 Malignant neoplasm of breast disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1074 1390
C0006826 Malignant Neoplasms group Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 128 202
C0007097 Carcinoma group Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 164 15
C0007103 Malignant neoplasm of endometrium disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process disease of anatomical entity; disease of cellular proliferation 18 0
C0007112 Adenocarcinoma of prostate disease Neoplasms; Male Urogenital Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 20 96
C0007131 Non-Small Cell Lung Carcinoma disease Neoplasms; Respiratory Tract Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the respiratory system 156 132
C0007134 Renal Cell Carcinoma disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system; Neoplasm 128 119
C0007621 Neoplastic Cell Transformation phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 139 0
C0008073 Developmental Disabilities group Mental Disorders Mental or Behavioral Dysfunction 30 1
C0009075 Melanoma, Cloudman S91 disease Neoplasms Neoplastic Process; Experimental Model of Disease 7 0
C0009402 Colorectal Carcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 702 856
C0010606 Adenoid Cystic Carcinoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 100 27
C0011757 Developmental Coordination Disorder disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health 8 0
C0013421 Dystonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom disease of anatomical entity Abnormality of the nervous system 86 61
C0014170 Endometrial Neoplasms group Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process disease of anatomical entity; disease of cellular proliferation 58 30
C0014173 Endometrial Hyperplasia disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system 5 0
C0015695 Fatty Liver disease Digestive System Diseases Disease or Syndrome genetic disease; disease of metabolism 88 0
C0017636 Glioblastoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 79 137