Source: BEFREE

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1513734 Solid/Multicystic Ameloblastoma disease Neoplasms Neoplastic Process 6 10
C1318558 Congenital melanocytic nevus disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity 7 5
C1704375 Hypophosphatemic Rickets disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome Abnormality of metabolism/homeostasis; Abnormality of the skeletal system 21 3
C1708565 Invasive Cutaneous Melanoma disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 25 7
C3714651 Follicular Variant Thyroid Gland Papillary Carcinoma disease Neoplasms; Endocrine System Diseases Neoplastic Process 36 13
C3536983 Familial Hypophosphatemic Rickets disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome genetic disease; disease of anatomical entity 42 14
C0205748 Dysplastic Nevus disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process Abnormality of the integument 104 7
C0349639 Juvenile Myelomonocytic Leukemia disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues 174 26
C1519346 Skin Carcinogenesis disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 194 7
C0007133 Carcinoma, Papillary disease Neoplasms Neoplastic Process disease of cellular proliferation 205 9
C1337013 Differentiated Thyroid Gland Carcinoma disease Neoplastic Process disease of anatomical entity; disease of cellular proliferation 242 72
C0030354 Papilloma disease Neoplasms Neoplastic Process disease of cellular proliferation Abnormality of the integument; Neoplasm 253 25
C0206682 Follicular thyroid carcinoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the endocrine system; Neoplasm 285 28
C1868683 B-CELL MALIGNANCY, LOW-GRADE disease Neoplastic Process disease of anatomical entity; disease of cellular proliferation 346 19
C0278883 Metastatic melanoma disease Neoplasms Neoplastic Process 455 22
C1332201 Adult Diffuse Large B-Cell Lymphoma disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 501 42
C0153690 Secondary malignant neoplasm of bone disease Pathological Conditions, Signs and Symptoms; Neoplasms; Musculoskeletal Diseases Neoplastic Process 647 18
C0008626 Congenital chromosomal disease group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 756 47
C1961102 Precursor Cell Lymphoblastic Leukemia Lymphoma disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 776 54
C0007115 Malignant neoplasm of thyroid disease Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 949 103
C0079744 Diffuse Large B-Cell Lymphoma disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1020 109
C0040136 Thyroid Neoplasm disease Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the endocrine system; Neoplasm 1081 114
C0549473 Thyroid carcinoma disease Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the endocrine system; Neoplasm 1152 116
C0023449 Acute lymphocytic leukemia disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues 1289 211
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 1293 193