Source: ALL
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: C2751316
Disease: Glaucoma 3, Primary Congenital, D
Glaucoma 3, Primary Congenital, D 		disease Eye Diseases Disease or Syndrome 1 6 0.600 None 1.000 3 6 2009 2010
CUI: C3538951
Disease: MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA
MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA 		disease Disease or Syndrome 1 6 0.600 None 1.000 1 6 2009 2009
CUI: C3553785
Disease: WEILL-MARCHESANI SYNDROME 3
WEILL-MARCHESANI SYNDROME 3 		disease Disease or Syndrome 1 1 0.500 moderate 1.000 1 1 2012 2012
CUI: C0266542
Disease: Spherophakia
Spherophakia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 2 0.010 None 1.000 1 2011 2011
CUI: C4552002
Disease: WEILL-MARCHESANI SYNDROME 1
WEILL-MARCHESANI SYNDROME 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 2 8 0.100 None 0 1
CUI: C4551507
Disease: Buphthalmos
Buphthalmos 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 3 1 0.010 None 1.000 1 2011 2011
CUI: C1869114
Disease: Weill-Marchesani Syndrome, Autosomal Recessive
Weill-Marchesani Syndrome, Autosomal Recessive 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 3 0.300 None 0
CUI: C1869115
Disease: Weill-Marchesani Syndrome, Autosomal Dominant
Weill-Marchesani Syndrome, Autosomal Dominant 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 3 23 0.300 None 0
CUI: C1832977
Disease: GLAUCOMA 3, PRIMARY INFANTILE, B
GLAUCOMA 3, PRIMARY INFANTILE, B 		disease Eye Diseases Disease or Syndrome 4 2 0.300 None 0
CUI: C0265313
Disease: Weill-Marchesani syndrome
Weill-Marchesani syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 5 4 0.520 None 1.000 2 2012 2018
CUI: C2750787
Disease: Weill-Marchesani-Like Syndrome
Weill-Marchesani-Like Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 5 5 0.020 None 1.000 2 2012 2018
CUI: C1851286
Disease: Ectopia lentis isolated
Ectopia lentis isolated 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 5 3 0.010 None 1.000 1 2012 2012
CUI: C0543982
Disease: Glaucoma, primary
Glaucoma, primary 		disease Eye Diseases Disease or Syndrome 7 3 0.010 None 1.000 1 2014 2014
CUI: C1827700
Disease: Luxation of lens
Luxation of lens 		phenotype Eye Diseases Anatomical Abnormality 7 0.010 None 1.000 1 2014 2014
CUI: C4068743
Disease: Juvenile open angle
Juvenile open angle 		disease Disease or Syndrome 7 1 0.010 None 1.000 1 2018 2018
CUI: C1562061
Disease: Microspherophakia
Microspherophakia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 9 0.440 None 0.750 4 2010 2019
CUI: C0423276
Disease: Shallow anterior chamber of eye
Shallow anterior chamber of eye 		phenotype Finding 13 0.100 None 0
CUI: C0149893
Disease: Secondary glaucoma
Secondary glaucoma 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 21 2 0.020 None 1.000 2 1 2010 2011
CUI: C1533041
Disease: Primary congenital glaucoma
Primary congenital glaucoma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 24 25 0.500 strong 1.000 11 3 2009 2017
CUI: C2981140
Disease: Glaucoma of childhood
Glaucoma of childhood 		disease Eye Diseases Disease or Syndrome 30 15 0.100 None 0 1
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 34 17 0.150 None 1.000 5 1 2010 2019
CUI: C0158288
Disease: Spinal stenosis of lumbar region
Spinal stenosis of lumbar region 		disease Musculoskeletal Diseases Disease or Syndrome 34 2 0.010 None 1.000 1 2019 2019
CUI: C0241165
Disease: Thick skin
Thick skin 		phenotype Finding 40 1 0.100 None 0
CUI: C0344530
Disease: Congenital keratoglobus
Congenital keratoglobus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 46 9 0.120 None 1.000 2 2010 2019
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 46 10 0.100 None 0