Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1838457 FANCONI ANEMIA, COMPLEMENTATION GROUP D1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 36
C2751641 GLIOMA SUSCEPTIBILITY 3 disease Finding 1 22
C3150546 PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 disease Finding 1 21
C0007095 Carcinoid Tumor phenotype Neoplasms Neoplastic Process Abnormality of the nervous system; Abnormality of the endocrine system; Neoplasm 1 1
C0036631 Seminoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system; Neoplasm 1 1
C0349661 Glial tumor of brain (disorder) disease Neoplasms; Nervous System Diseases Neoplastic Process 1 1
C2986662 Multifocal breast carcinoma disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process Neoplasm; Abnormality of the breast 1 1
C4023192 Thyroid papillary adenoma disease Neoplasms; Endocrine System Diseases Neoplastic Process Abnormality of the endocrine system; Neoplasm 1 1
C2675520 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 disease Finding 2 2633
C0152459 Linear atrophy disease Pathological Conditions, Signs and Symptoms Acquired Abnormality Abnormality of the integument 2 6
C0346647 Malignant neoplasm of pancreas disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 2 5
C1134719 Invasive Ductal Breast Carcinoma disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 2 4
C0029396 Heterotopic Ossification phenotype Pathological Conditions, Signs and Symptoms Pathologic Function Abnormality of the skeletal system 2 2
C0238207 Ectopic kidney disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality Abnormality of the genitourinary system 2 2
C0262630 Reduced concentration span phenotype Behavior and Behavior Mechanisms Finding Abnormality of the nervous system 2 2
C0595989 Carcinoma of larynx disease Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the respiratory system 2 2
C1335178 Ovarian Serous Surface Papillary Adenocarcinoma disease Neoplastic Process disease of anatomical entity; disease of cellular proliferation 2 2
C4305467 Neuroendocrine tumor of pancreas disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2 2
C2676676 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 disease Finding 3 2273
C0035335 Retinoblastoma disease Neoplasms; Eye Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the eye 3 153
C2986658 Diffuse Intrinsic Pontine Glioma disease Neoplastic Process 3 3
C0242363 Islet Cell Tumor disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the nervous system; Abnormality of the endocrine system; Neoplasm 3 2
C0238463 Papillary thyroid carcinoma disease Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the endocrine system; Neoplasm 4 4
C3280492 TUMOR PREDISPOSITION SYNDROME disease Disease or Syndrome 5 62
C0027708 Nephroblastoma disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system; Neoplasm 5 48