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: 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: C0152458
Disease: Leukocoria
Leukocoria 		disease Eye Diseases Disease or Syndrome 4 0.100 None 0
CUI: C0229197
Disease: Retinal fold (finding)
Retinal fold (finding) 		phenotype Finding 5 0.100 None 0
CUI: C0266544
Disease: Microcornea
Microcornea 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 129 10 0.100 None 0
CUI: C3151617
Disease: ANTERIOR SEGMENT DYSGENESIS 7
ANTERIOR SEGMENT DYSGENESIS 7 		disease Disease or Syndrome 3 4 0.300 None 1.000 1 2012 2012
CUI: C0266568
Disease: Persistent Hyperplastic Primary Vitreous
Persistent Hyperplastic Primary Vitreous 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 33 4 0.410 None 1.000 1 2 2012 2012
CUI: C1857299
Disease: RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL
RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL 		disease Eye Diseases Congenital Abnormality 13 1 0.520 None 1.000 3 1 2012 2020
CUI: C1969783
Disease: Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 2 4 0.600 None 1.000 4 3 2002 2012