PRSS56, serine protease 56, 646960

N. diseases: 19; N. variants: 11
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: C3150757
Disease: MICROPHTHALMIA, ISOLATED 6
MICROPHTHALMIA, ISOLATED 6
disease Disease or Syndrome 1 10 0.900 None 1.000 4 10 2011 2018
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 337 40 0.660 None 1.000 6 1 2011 2019
CUI: C0027092
Disease: Myopia
Myopia
disease Eye Diseases Disease or Syndrome 490 167 0.440 None 1.000 6 1 2013 2018
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma
disease Eye Diseases Disease or Syndrome 94 56 0.320 None 1.000 2 2011 2013
CUI: C0158543
Disease: Congenital cystic eyeball
Congenital cystic eyeball
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 1 0.200 None 1.000 1 2011 2011
CUI: C4551977
Disease: Microphthalmos, Autosomal Recessive
Microphthalmos, Autosomal Recessive
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 8 0.200 None 1.000 1 2011 2011
CUI: C1855052
Disease: MICROPHTHALMIA, ISOLATED 1
MICROPHTHALMIA, ISOLATED 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 8 0.200 None 1.000 1 2011 2011
CUI: C2674403
Disease: Scleral thickening
Scleral thickening
phenotype Finding 2 0.100 None 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation
phenotype Finding 215 5 0.100 None 0
CUI: C4025836
Disease: Abnormal choroid morphology
Abnormal choroid morphology
disease Anatomical Abnormality 12 1 0.100 None 0
CUI: C1855925
Disease: Hyperopia, High
Hyperopia, High
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Finding 47 1 0.100 None 0
CUI: C0229197
Disease: Retinal fold (finding)
Retinal fold (finding)
phenotype Finding 5 0.100 None 0
CUI: C0038379
Disease: Strabismus
Strabismus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 716 89 0.100 None 0
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease Eye Diseases Disease or Syndrome 770 198 0.100 None 0
CUI: C0034951
Disease: Refractive Errors
Refractive Errors
group Eye Diseases Disease or Syndrome 71 75 0.020 None 1.000 2 2016 2018
CUI: C0020490
Disease: Hyperopia
Hyperopia
disease Eye Diseases Disease or Syndrome 142 29 0.020 None 1.000 2 2013 2018
CUI: C0747845
Disease: early pregnancy
early pregnancy
phenotype Disease or Syndrome 273 8 0.010 None 1.000 1 2017 2017
CUI: C0017606
Disease: Primary angle-closure glaucoma
Primary angle-closure glaucoma
disease Eye Diseases Disease or Syndrome 87 55 0.010 None 1.000 1 2013 2013
CUI: C4274282
Disease: Nanophthalmia
Nanophthalmia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 3 0.010 None 1.000 1 2013 2013