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.
Weill-Marchesani Syndrome, Autosomal Recessive
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 3 8 0.620 1.000 4 7 2005 2016
CUI: C0265313
Disease: Weill-Marchesani syndrome
Weill-Marchesani syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 3 2 0.530 0.667 3 1 2009 2016
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 518 42 0.400 strong 2 2005 2016
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 306 6 0.300 strong 1 2005 2005
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic
disease Cardiovascular Diseases Disease or Syndrome 98 66 0.300 limited 0
Weill-Marchesani Syndrome, Autosomal Dominant
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 3 7 0.300 0
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease Eye Diseases Disease or Syndrome 380 209 0.110 < 0.001 1 2014 2014
CUI: C1861329
Disease: Spinal canal stenosis
Spinal canal stenosis
phenotype Anatomical Abnormality 19 1 0.100 0
CUI: C1857108
Disease: Limitation of joint mobility
Limitation of joint mobility
phenotype Finding 64 0.100 0
CUI: C1865244
Disease: Shallow orbits
Shallow orbits
phenotype Finding 18 1 0.100 0
CUI: C1852504
Disease: Misalignment of teeth
Misalignment of teeth
phenotype Finding 14 0.100 0
CUI: C1850161
Disease: Widened metatarsal shaft
Widened metatarsal shaft
phenotype Finding 6 0.100 0
CUI: C1848654
Disease: Broad ribs
Broad ribs
phenotype Finding 15 0.100 0
CUI: C1842231
Disease: Broad metatarsal
Broad metatarsal
phenotype Finding 6 0.100 0
CUI: C1842229
Disease: Broad metacarpals
Broad metacarpals
phenotype Finding 6 0.100 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype Finding 276 3 0.100 0
CUI: C1833325
Disease: Thin bony cortex
Thin bony cortex
phenotype Finding 12 0.100 0
CUI: C1562061
Disease: Microspherophakia
Microspherophakia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 4 3 0.100 0
CUI: C1510497
Disease: Lens Opacities
Lens Opacities
phenotype Eye Diseases Finding 338 0.100 0
CUI: C4280643
Disease: Decreased projection of maxilla
Decreased projection of maxilla
phenotype Finding 83 0.100 0
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis
disease Cardiovascular Diseases Disease or Syndrome 65 4 0.100 0
CUI: C4280642
Disease: Deficiency of upper jaw bones
Deficiency of upper jaw bones
phenotype Finding 83 0.100 0
CUI: C4280641
Disease: Hypotrophic maxilla
Hypotrophic maxilla
phenotype Finding 83 0.100 0
CUI: C4280640
Disease: Retrusion of upper jaw bones
Retrusion of upper jaw bones
phenotype Finding 83 0.100 0
CUI: C4280610
Disease: Abnormality of position of teeth
Abnormality of position of teeth
phenotype Finding 14 0.100 0