Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0001418 Adenocarcinoma group Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1 1
C0238461 Anaplastic thyroid carcinoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the endocrine system; Neoplasm 1 1
C0334586 Pleomorphic Xanthoastrocytoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1 1
C0431109 Choroid Plexus Carcinoma disease Neoplasms; Nervous System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the nervous system; Neoplasm 1 1
C1266184 Atypical Teratoid Rhabdoid Tumor disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1 1
C4013716 Small cell carcinoma of the ovary, hypercalcemic type phenotype Neoplasms Finding 1 1
C0878638 Abnormality of the tongue phenotype Finding Abnormality of head or neck 2 2
C1334655 Mediastinal Germ Cell Tumor disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 2 2
C4288013 Vulvar Adenocarcinoma of Mammary Gland Type disease Neoplastic Process 2 2
C0334579 Anaplastic astrocytoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1 2
C1328587 Panhypogammaglobulinemia phenotype Finding Abnormality of metabolism/homeostasis; Abnormality of the immune system; Abnormal cellular phenotype 1 2
C1859973 Adrenocortical Carcinoma, Pediatric disease Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1 2
C4748488 BONE MARROW FAILURE SYNDROME 5 disease Disease or Syndrome 1 2
C0546837 Malignant neoplasm of esophagus disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 3 3
C0206624 Hepatoblastoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 3 5
C0858252 Breast adenocarcinoma disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 3 5
C1857641 Severe postnatal growth retardation phenotype Finding Growth abnormality 2 5
C2675080 Li-Fraumeni-Like Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease 1 5
C1261473 Sarcoma group Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 6 6
C0018671 Head and Neck Neoplasms group Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 4 6
C1859972 ADRENOCORTICAL CARCINOMA, HEREDITARY disease Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1 6
C2931822 Nasopharyngeal carcinoma disease Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1 6
C0023462 Acute Megakaryocytic Leukemias disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues 4 7
C0346629 Malignant neoplasm of large intestine disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 3 7
C0302592 Cervix carcinoma disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process disease of anatomical entity; disease of cellular proliferation 2 7