Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1835398 LI-FRAUMENI SYNDROME 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases Disease or Syndrome 1 39
C0205770 Choroid Plexus Papilloma disease Neoplasms; Nervous System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the integument; Abnormality of the nervous system; Neoplasm 1 7
C3553606 BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7 disease Finding 1 7
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
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
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
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
C0085390 Li-Fraumeni Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease 2 157
C0302592 Cervix carcinoma disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process disease of anatomical entity; disease of cellular proliferation 2 7
C2750850 GLIOMA SUSCEPTIBILITY 1 phenotype Finding 2 7
C1857641 Severe postnatal growth retardation phenotype Finding Growth abnormality 2 5
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
C0346629 Malignant neoplasm of large intestine disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 3 7
C0206624 Hepatoblastoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 3 5