Source: UNIPROT

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1837210 OROFACIAL CLEFT 5 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome syndrome; physical disorder 1 4
C1851878 OROFACIAL CLEFT 8 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Stomatognathic Diseases Disease or Syndrome syndrome; physical disorder 1 1
C2677434 OROFACIAL CLEFT 11 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome syndrome; physical disorder 1 4
C0038644 Sudden infant death syndrome disease Pathological Conditions, Signs and Symptoms Disease or Syndrome syndrome 3 8
C0018522 Hallermann's Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome syndrome 1 1
C0042781 Visceral Myopathy disease Digestive System Diseases Disease or Syndrome syndrome 1 7
C0085261 Proteus Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases Neoplastic Process syndrome 1 1
C0220687 KBG syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome syndrome 1 0
C0265354 CHARGE Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome syndrome 1 37
C0795833 KLEEFSTRA SYNDROME 1 disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases Disease or Syndrome syndrome 1 0
C0796004 Kabuki make-up syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases Congenital Abnormality syndrome 1 16
C0796113 Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome syndrome 1 1
C0796147 Acrocallosal Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome syndrome 1 3
C0812437 Oculo-dento-digital syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality syndrome 1 16
C1319466 Barber Say syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome syndrome 1 0
C1836602 Bruck syndrome 2 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome syndrome 1 3
C1842124 BRANCHIOOTIC SYNDROME 3 (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome syndrome 1 7
C1846009 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome syndrome 1 5
C1847604 Van der Woude syndrome 2 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome syndrome 1 3
C1850168 Bruck syndrome 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome syndrome 1 3
C1850746 Myopathy, congenital nonprogressive with Moebius and Robin sequences disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome syndrome 1 4
C1855722 Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome syndrome 1 4
C1865143 BRANCHIOOTIC SYNDROME 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome syndrome 1 3
C2752042 Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome syndrome 1 2
C3281235 BARAITSER-WINTER SYNDROME 2 disease Disease or Syndrome syndrome 1 6