Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0027672 Neoplastic Syndromes, Hereditary group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 67 6385
C0036857 Severe intellectual disability disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction genetic disease; disease of mental health Abnormality of the nervous system 43 62
C0027651 Neoplasms group Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 26 98
C3887898 Infantile Spasm disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 21 22
C1510586 Autism Spectrum Disorders disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 19 70
C0018552 Hamartoma disease Neoplasms Neoplastic Process Neoplasm 4 5
C1846385 FOCAL CORTICAL DYSPLASIA OF TAYLOR disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 2 19
C1860707 TUBEROUS SCLEROSIS 2 (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome genetic disease 1 210
C0041341 Tuberous Sclerosis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process genetic disease 1 20
C0751674 Lymphangioleiomyomatosis disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity Abnormality of the immune system; Neoplasm; Abnormality of the respiratory system; Abnormality of the cardiovascular system 1 15
C1968959 Cortical tubers phenotype Finding Abnormality of the nervous system; Neoplasm 1 4
C0206731 Angiofibroma disease Neoplasms Neoplastic Process Neoplasm 1 1
C1860711 Dental enamel pits phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system; Abnormality of connective tissue 1 1