Source: CURATED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C4704874 Mammary Carcinoma, Human disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 525 0
C4551484 Leopard Syndrome 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease 6 26
C4225426 THYROID CANCER, NONMEDULLARY, 2 disease Neoplastic Process disease of anatomical entity; disease of cellular proliferation 5 13
C3805278 Extrahepatic Cholangiocarcinoma disease Neoplasms Neoplastic Process 24 0
C3714976 ACTIVATED PI3K-DELTA SYNDROME disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome 3 4
C3714756 Intellectual Disability group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 447 6
C3551915 MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO phenotype Finding 3 16
C3489413 Lipomatosis, Multiple disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 2 0
C3241937 Nonalcoholic Steatohepatitis disease Digestive System Diseases Disease or Syndrome 70 3
C3163622 Papillary Meningioma disease Neoplasms; Nervous System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 12 0
C2931822 Nasopharyngeal carcinoma disease Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 22 174
C2751642 GLIOMA SUSCEPTIBILITY 2 disease Finding 1 6
C2711227 Steatohepatitis disease Digestive System Diseases Disease or Syndrome Abnormality of the digestive system 88 9
C2239176 Liver carcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 507 203
C1959588 Angioma disease Neoplasms Neoplastic Process 4 0
C1959582 PTEN Hamartoma Tumor Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process genetic disease; disease of anatomical entity; syndrome 2 193
C1866398 Proteus-Like Syndrome (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases Disease or Syndrome genetic disease; disease of anatomical entity 2 56
C1854416 MACROCEPHALY/AUTISM SYNDROME disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome genetic disease 2 21
C1848599 VACTERL Association With Hydrocephalus disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome syndrome 3 7
C1835047 MELANOMA, CUTANEOUS MALIGNANT, 1 disease Finding 1 0
C1704374 Carcinoma of Endocrine Gland disease Neoplasms; Endocrine System Diseases Neoplastic Process 15 0
C1565951 Sphenoid Wing Meningioma disease Neoplasms; Nervous System Diseases Neoplastic Process 12 0
C1565950 Posterior Fossa Meningioma disease Neoplasms; Nervous System Diseases Neoplastic Process 12 0
C1535926 Neurodevelopmental Disorders group Mental Disorders Mental or Behavioral Dysfunction 93 4
C1527197 Angioblastic Meningioma disease Neoplasms; Nervous System Diseases Neoplastic Process 12 0