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: C4072686
Disease: Cardiovascular disease+Pulmonary disease
Cardiovascular disease+Pulmonary disease 		disease Disease or Syndrome 1 0.010 None 1.000 1 2009 2009
CUI: C1856441
Disease: Late onset congenital glaucoma
Late onset congenital glaucoma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1 0.100 None 0
CUI: C3278153
Disease: GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET
GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET 		disease Disease or Syndrome 1 1 0.100 None 0 1
CUI: C4016760
Disease: GLAUCOMA, EARLY-ONSET, DIGENIC
GLAUCOMA, EARLY-ONSET, DIGENIC 		disease Finding 1 1 0.100 None 0 1
CUI: C1865427
Disease: GLAUCOMA 1, OPEN ANGLE, D (disorder)
GLAUCOMA 1, OPEN ANGLE, D (disorder) 		disease Eye Diseases Disease or Syndrome 2 1 0.100 None 0 1
CUI: C4023330
Disease: Abnormal Descemet membrane morphology
Abnormal Descemet membrane morphology 		phenotype Anatomical Abnormality 2 1 0.100 None 0
CUI: C4310623
Disease: ANTERIOR SEGMENT DYSGENESIS 6
ANTERIOR SEGMENT DYSGENESIS 6 		disease Disease or Syndrome 2 2 0.100 None 0 2
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		disease Eye Diseases Disease or Syndrome; Congenital Abnormality 3 34 0.700 None 1.000 31 33 1997 2016
CUI: C4551507
Disease: Buphthalmos
Buphthalmos 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 3 1 0.030 None 1.000 3 1 1995 2010
CUI: C0311251
Disease: Simple buphthalmos
Simple buphthalmos 		disease Congenital Abnormality 3 0.200 None 1.000 1 2003 2003
CUI: C0856901
Disease: Retinol Deficiency
Retinol Deficiency 		disease Nutritional and Metabolic Diseases Disease or Syndrome 3 2 0.010 None 1.000 1 2017 2017
CUI: C0857112
Disease: Bilateral glaucoma
Bilateral glaucoma 		disease Eye Diseases Disease or Syndrome 3 0.010 None 1.000 1 2010 2010
CUI: C1299694
Disease: Glaucomatous visual field defect
Glaucomatous visual field defect 		phenotype Finding 3 0.100 None 0
CUI: C1842028
Disease: GLAUCOMA 1, OPEN ANGLE, A
GLAUCOMA 1, OPEN ANGLE, A 		disease Eye Diseases Disease or Syndrome 4 38 0.300 None 1.000 1 1 2002 2002
CUI: C1832977
Disease: GLAUCOMA 3, PRIMARY INFANTILE, B
GLAUCOMA 3, PRIMARY INFANTILE, B 		disease Eye Diseases Disease or Syndrome 4 2 0.400 None 0 2
CUI: C3805911
Disease: Increased cup-to-disc ratio
Increased cup-to-disc ratio 		phenotype Finding 4 1 0.100 None 0
CUI: C1304119
Disease: Chronic stable plaque psoriasis
Chronic stable plaque psoriasis 		disease Disease or Syndrome 5 4 0.010 None 1.000 1 2016 2016
CUI: C0152253
Disease: Posterior synechiae
Posterior synechiae 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 5 0.100 None 0
CUI: C0344299
Disease: Temporal pallor of optic disc
Temporal pallor of optic disc 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 5 0.100 None 0
CUI: C4023327
Disease: Central opacification of the cornea
Central opacification of the cornea 		phenotype Finding 5 0.100 None 0
CUI: C4477011
Disease: Thinning of Descemet membrane
Thinning of Descemet membrane 		phenotype Finding 5 0.100 None 0
CUI: C0311237
Disease: Goniodysgenesis
Goniodysgenesis 		disease Congenital Abnormality 6 3 0.010 None 1.000 1 2 2009 2009
CUI: C4068743
Disease: Juvenile open angle
Juvenile open angle 		disease Disease or Syndrome 7 1 0.050 None 1.000 5 2002 2018
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		disease Disease or Syndrome 7 32 0.400 None 1.000 3 3 1997 2002
CUI: C0403766
Disease: Acquired phimosis
Acquired phimosis 		disease Skin and Connective Tissue Diseases; Male Urogenital Diseases Acquired Abnormality 7 0.010 None 1.000 1 2018 2018