Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1854465 TUBEROUS SCLEROSIS 1 (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome genetic disease 0 104
C0268450 Gitelman Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome genetic disease; disease of anatomical entity 0 40
C1848213 Periventricular Heterotopia, X-Linked disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome disease of anatomical entity; physical disorder 0 38
C2936904 Opitz GBBB Syndrome, X-Linked disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Stomatognathic Diseases Disease or Syndrome genetic disease 0 20
C1844696 OTOPALATODIGITAL SYNDROME, TYPE II disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 0 19
C0025237 Melnick-Needles Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 0 18
C3276096 ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS disease Disease or Syndrome genetic disease; disease of anatomical entity 0 18
C0265293 Frontometaphyseal dysplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 0 16
C3553617 PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 disease Disease or Syndrome 0 15
C1969562 Mental Retardation, Autosomal Dominant 1 disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome genetic disease; disease of mental health 0 13
C1969810 FEBRILE CONVULSIONS, FAMILIAL, 8 disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 0 13
C3151443 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 disease Disease or Syndrome genetic disease; disease of anatomical entity 0 11
C1843244 EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2 disease Disease or Syndrome disease of anatomical entity 0 10
C1955741 Glucocorticoid deficiency disease Disease or Syndrome 0 9
C1843256 IRAK4 Deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome 0 8
C1858677 LEBER CONGENITAL AMAUROSIS 3 (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome genetic disease; disease of anatomical entity 0 6
C4693362 EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2 disease Disease or Syndrome disease of anatomical entity 0 6
C1833136 Marden Walker like syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases Disease or Syndrome 0 5
C4479603 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS disease Disease or Syndrome 0 5
C0221043 Liddle Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome genetic disease; disease of anatomical entity 0 4
C0268341 Ehlers-Danlos syndrome type 5 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 0 4
C0265251 Oto-Palato-digital syndrome type 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 0 3
C0279606 Childhood Hepatocellular Carcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 0 3
C0730294 North Carolina macular dystrophy disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 0 3
C2746068 Congenital idiopathic intestinal pseudoobstruction disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 0 3