Source: BEFREE

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C4721414 Mantle cell lymphoma disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 466 19
C4721209 Metastatic human epidermal growth factor 2 positive carcinoma of breast disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 42 0
C4721208 Metastatic castration-resistant prostate cancer disease Neoplastic Process 140 2
C4703473 Atherosclerotic lesion disease Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 253 0
C4687446 Refractory Glioblastoma disease Neoplasms Neoplastic Process 6 0
C4684880 Advanced Bile Duct Carcinoma disease Neoplastic Process 19 0
C4552766 Miscarriage disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 340 56
C4552000 Episodic Kinesigenic Dyskinesia 1 disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 153 3
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
C4551686 Malignant neoplasm of soft tissue group Neoplasms Neoplastic Process disease of cellular proliferation 699 32
C4551683 Adrenal Gland Pheochromocytoma disease Neoplasms; Endocrine System Diseases Neoplastic Process Abnormality of the nervous system; Abnormality of the endocrine system; Neoplasm 414 50
C4551472 Hypertrophic obstructive cardiomyopathy disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 217 90
C4544791 PIK3CA related overgrowth syndrome disease Disease or Syndrome 4 0
C4543929 Primary osteosarcoma disease Neoplasms Neoplastic Process 28 0
C4531084 Mucinous colorectal carcinoma disease Neoplastic Process Neoplasm 7 0
C4529962 Fatty Liver Disease disease Disease or Syndrome 740 41
C4528668 Acute myeloid leukaemia refractory disease Neoplasms Neoplastic Process 58 0
C4525305 Stage IV Gallbladder Cancer AJCC v8 disease Neoplastic Process 367 56
C4525302 Stage III Gallbladder Cancer AJCC v8 disease Neoplastic Process 367 56
C4525301 Stage IIB Gallbladder Cancer AJCC v8 disease Neoplastic Process 367 56
C4525300 Stage IIA Gallbladder Cancer AJCC v8 disease Neoplastic Process 367 56
C4525297 Stage 0 Gallbladder Cancer AJCC v8 disease Neoplastic Process 367 56
C4525124 Stage III Colon Cancer AJCC v8 disease Neoplastic Process 42 3
C4525119 Stage II Colon Cancer AJCC v8 disease Neoplastic Process 48 3
C4524268 Advanced lung cancer disease Neoplastic Process 59 9