Source: CLINGEN

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0346153 Breast Cancer, Familial disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 24
C0024796 Marfan Syndrome disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity; genetic disease; physical disorder 23
C1140680 Malignant neoplasm of ovary disease Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 22
C0154040 Benign neoplasm of adrenal gland disease Neoplastic Process 21
C0154045 Benign neoplasm of aortic body and other paraganglia disease Neoplastic Process 21
C0344456 Malignant Adrenal Medulla Neoplasm disease Neoplastic Process disease of anatomical entity; disease of cellular proliferation 21
C0438413 Malignant neoplasm of aortic body and other paraganglia disease Neoplastic Process 21
C1846647 DEAFNESS, AUTOSOMAL RECESSIVE (disorder) disease Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome disease of anatomical entity 19
C1112155 Hereditary non-polyposis colorectal cancer syndrome disease Congenital Abnormality 19
C1333990 Hereditary Nonpolyposis Colorectal Cancer disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Neoplastic Process genetic disease 19
C0949658 Cardiomyopathy, Hypertrophic, Familial disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome disease of anatomical entity 18
C0009405 Hereditary Nonpolyposis Colorectal Neoplasms group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Neoplastic Process genetic disease 18
C0007194 Hypertrophic Cardiomyopathy disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 17
C2931498 Mental Retardation, X-Linked 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome disease of mental health 10
C1852282 DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder) disease Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome disease of anatomical entity 9
C0452138 Sensorineural hearing loss, bilateral disease Disease or Syndrome disease of anatomical entity Abnormality of the ear 9
C0004991 Benign neoplasm of colon disease Neoplastic Process genetic disease 4
C0587248 Costello syndrome (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome genetic disease 4
C1968782 MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome genetic disease 4
C0028326 Noonan Syndrome disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity; genetic disease; syndrome 4
C1868081 Juvenile Polyposis Coli disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Disease or Syndrome genetic disease 3
C1832940 JUVENILE POLYPOSIS OF STOMACH disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Disease or Syndrome genetic disease 3
C0345893 Juvenile polyposis syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Neoplastic Process genetic disease 3
C1568247 Usher Syndrome, Type I disease Disease or Syndrome genetic disease 3
C1848640 USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY disease Disease or Syndrome genetic disease 3