CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0854178 Metastases to adrenals disease Neoplasms; Endocrine System Diseases Neoplastic Process 7 0
C0878649 Gastric hyperplastic polyp disease Digestive System Diseases; Neoplasms Disease or Syndrome 7 0
C1333190 Cystic Neoplasm disease Neoplastic Process 7 0
C4277512 Breast Cancer Lymphedema phenotype Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome 7 0
C4285730 Activated PI3 kinase delta syndrome disease Disease or Syndrome 7 0
C4531084 Mucinous colorectal carcinoma disease Neoplastic Process Neoplasm 7 0
C4551861 Telangiectasia, Hereditary Hemorrhagic, Type 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease 7 0
C0265326 Bannayan-Riley-Ruvalcaba Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Disease or Syndrome genetic disease; disease of anatomical entity 8 1
C0032109 Plasma cell mastitis disease Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Disease or Syndrome 8 0
C0334317 Cystadenofibroma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 8 0
C1266029 Enterochromaffin-like cell carcinoid disease Neoplasms Neoplastic Process 8 0
C1266146 Adenomyoepithelioma disease Neoplasms Neoplastic Process 8 0
C1717947 Incisional pain phenotype Sign or Symptom 8 0
C4728035 CTLA4 deficiency disease Disease or Syndrome 8 0
C3899155 hereditary neuroblastoma disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 9 4
C0235752 Port-Wine Stain disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality disease of anatomical entity Abnormality of the integument 9 3
C3714976 ACTIVATED PI3K-DELTA SYNDROME disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome 9 3
C0028790 Cerebral artery occlusion disease Nervous System Diseases; Cardiovascular Diseases Acquired Abnormality disease of anatomical entity 9 0
C0279698 Squamous cell carcinoma of nasopharynx disease Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process 9 0
C0347180 Penile intraepithelial neoplasia disease Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases Neoplastic Process 9 0
C0677728 Indolent Adult Non-Hodgkin Lymphoma disease Neoplastic Process 9 0
C1332167 Adenoid cystic breast carcinoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 9 0
C1334807 Mucinous carcinoma of breast disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 9 0
C2609289 Diabetic arteriosclerosis disease Disease or Syndrome 9 0
C0334576 Gliomatosis cerebri disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 10 6