CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0153381 Malignant neoplasm of mouth group Neoplasms; Stomatognathic Diseases Neoplastic Process 54 13
C0026640 Mouth Neoplasms group Neoplasms; Stomatognathic Diseases Neoplastic Process Neoplasm; Abnormality of head or neck 54 0
C0027819 Neuroblastoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the nervous system; Neoplasm 47 166
C0549473 Thyroid carcinoma disease Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the endocrine system; Neoplasm 44 41
C0151779 Cutaneous Melanoma disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the integument; Neoplasm 41 195
C0858252 Breast adenocarcinoma disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 41 5
C0007138 Carcinoma, Transitional Cell disease Neoplasms Neoplastic Process disease of cellular proliferation 41 0
C0496956 Neoplasm of uncertain or unknown behavior of breast disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 41 0
C0006118 Brain Neoplasms group Neoplasms; Nervous System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the nervous system; Neoplasm 39 122
C0153633 Malignant neoplasm of brain disease Neoplasms; Nervous System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 38 4
C0040136 Thyroid Neoplasm disease Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the endocrine system; Neoplasm 37 25
C0007873 Uterine Cervical Neoplasm disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system 35 69
C0151468 Thyroid Gland Follicular Adenoma disease Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the endocrine system; Neoplasm 35 1
C0496899 Benign neoplasm of brain, unspecified disease Neoplasms; Nervous System Diseases Neoplastic Process 33 0
C0750974 Brain Tumor, Primary disease Neoplasms; Nervous System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 33 0
C0750977 Recurrent Brain Neoplasm disease Neoplasms; Nervous System Diseases Neoplastic Process 33 0
C0750979 Primary malignant neoplasm of brain disease Neoplasms; Nervous System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 33 0
C1527390 Neoplasms, Intracranial group Neoplasms; Nervous System Diseases Neoplastic Process 33 0
C0028326 Noonan Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity; syndrome; disease of mental health 24 153
C0175704 LEOPARD Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease 22 17
C1261473 Sarcoma group Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 21 6
C1275081 Cardio-facio-cutaneous syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases Congenital Abnormality genetic disease; syndrome 19 74
C0587248 Costello syndrome (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome genetic disease 19 17
C1843181 Noonan syndrome-like disorder with loose anagen hair disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 19 0
C3501846 Noonan-Like Syndrome With Loose Anagen Hair disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 19 0