Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0175697
Disease: Van der Woude syndrome
Van der Woude syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Neoplasms; Pathological Conditions, Signs and Symptoms; Stomatognathic Diseases Disease or Syndrome 82 20 1.000 0.957 54 16 1999 2018
CUI: C0265259
Disease: Popliteal pterygium syndrome
Popliteal pterygium syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 7 8 1.000 0.929 21 8 2002 2017
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 168 241 0.700 0.889 21 5 2003 2016
OROFACIAL CLEFT 6, SUSCEPTIBILITY TO
disease Finding 1 1 0.600 6 1 2002 2017
CUI: C0020608
Disease: Hypodontia
Hypodontia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 120 10 0.410 1.000 1 2008 2008
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 111 10 0.400 0.917 14 1 1999 2013
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip
disease Congenital Abnormality 65 2 0.400 0.923 13 2004 2017
CUI: C4082304
Disease: Oligodontia
Oligodontia
disease Congenital Abnormality 33 7 0.400 0
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 128 7 0.370 0.857 8 1999 2013
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 186 4 0.300 1 2007 2007
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 58 5 0.300 1 2007 2007
CUI: C0206762
Disease: Limb Deformities, Congenital
Limb Deformities, Congenital
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 44 3 0.300 1 2007 2007
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 306 6 0.300 strong 1 2002 2002
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.300 moderate 0
CUI: C1298692
Disease: Cleft lip and alveolus
Cleft lip and alveolus
disease Congenital Abnormality 4 0.300 0
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease Congenital Abnormality 273 7 0.200 0.917 12 1999 2013
Myopathy, Actin, Congenital, with Excess of Thin Myofilaments
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 3 15 0.200 1 2010 2010
CUI: C0341059
Disease: Lip pit
Lip pit
phenotype Anatomical Abnormality 2 0.120 1.000 2 2011 2016
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
disease Digestive System Diseases Disease or Syndrome 911 956 0.110 1.000 2 1 2003 2017
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
group Digestive System Diseases Disease or Syndrome 910 451 0.100 1 1 2017 2017
CUI: C2240378
Disease: cleft palate on exam
cleft palate on exam
phenotype Finding 2 2 0.100 1 1 2015 2015
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
Nonketotic Hyperglycinemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 21 126 0.100 0
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs
phenotype Anatomical Abnormality 50 0.100 0
CUI: C0431659
Disease: Hypoplasia of scrotum
Hypoplasia of scrotum
phenotype Finding 32 2 0.100 0
CUI: C0497327
Disease: Dementia
Dementia
disease Mental Disorders; Nervous System Diseases Mental or Behavioral Dysfunction 435 107 0.100 0