MFRP, membrane frizzled-related protein, 83552

N. diseases: 63; N. variants: 22
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.
Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 1 12 0.700 strong 1.000 5 12 2006 2018
CUI: C1836006
Disease: NANOPHTHALMOS 2 (disorder)
NANOPHTHALMOS 2 (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1 4 0.700 strong 1.000 2 4 2005 2006
CUI: C2674407
Disease: Foveoschisis
Foveoschisis
phenotype Eye Diseases Finding 1 0.100 None 0
CUI: C2674403
Disease: Scleral thickening
Scleral thickening
phenotype Finding 2 0.100 None 0
CUI: C4274282
Disease: Nanophthalmia
Nanophthalmia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 3 0.020 None 1.000 2 2014 2016
Cone dystrophy with supernormal rod response
disease Eye Diseases Disease or Syndrome 3 0.010 None 1.000 1 2013 2013
CUI: C0029128
Disease: Optic Disk Drusen
Optic Disk Drusen
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 6 3 0.150 None 1.000 5 2006 2016
CUI: C1836929
Disease: Emanuel syndrome
Emanuel syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms; Cardiovascular Diseases Disease or Syndrome 6 0.010 None 1.000 1 2018 2018
CUI: C1720251
Disease: Retinal pigment epithelium atrophy
Retinal pigment epithelium atrophy
disease Acquired Abnormality 7 2 0.010 None 1.000 1 2016 2016
CUI: C0311338
Disease: Fundus Albipunctatus
Fundus Albipunctatus
disease Eye Diseases Congenital Abnormality 9 21 0.200 None 1.000 1 2000 2000
CUI: C1832174
Disease: DOYNE HONEYCOMB RETINAL DYSTROPHY
DOYNE HONEYCOMB RETINAL DYSTROPHY
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 9 1 0.010 None 1.000 1 2014 2014
Abnormal light- and dark-adapted electroretinogram
phenotype Finding 9 0.100 None 0
CUI: C1879645
Disease: Adverse Event by CTCAE Category
Adverse Event by CTCAE Category
phenotype Finding 11 0.300 moderate 0
CUI: C0154822
Disease: Serous retinal detachment
Serous retinal detachment
disease Eye Diseases Disease or Syndrome 12 2 0.010 None 1.000 1 2017 2017
CUI: C4025836
Disease: Abnormal choroid morphology
Abnormal choroid morphology
disease Anatomical Abnormality 12 1 0.100 None 0
CUI: C0154946
Disease: Acute angle-closure glaucoma
Acute angle-closure glaucoma
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 14 1 0.010 None < 0.001 1 2008 2008
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
disease Eye Diseases Disease or Syndrome 16 6 0.010 None 1.000 1 2014 2014
LATE-ONSET RETINAL DEGENERATION (disorder)
disease Eye Diseases Disease or Syndrome 17 3 0.160 None 1.000 6 1 2003 2019
Bone spicule pigmentation of the retina
phenotype Finding 24 0.100 None 0
CUI: C1840457
Disease: Retinal pigment epithelial atrophy
Retinal pigment epithelial atrophy
phenotype Finding 25 4 0.100 None 0
CUI: C0271051
Disease: Macular retinal edema
Macular retinal edema
disease Eye Diseases Disease or Syndrome 36 3 0.010 None 1.000 1 2017 2017
CUI: C0024437
Disease: Macular degeneration
Macular degeneration
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 44 16 0.010 None 1.000 1 1 2005 2005
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: C0023980
Disease: Longevity
Longevity
phenotype Temporal Concept 48 74 0.100 None 1.000 1 1 2015 2015
CUI: C0024440
Disease: Macular Edema, Cystoid
Macular Edema, Cystoid
disease Eye Diseases Disease or Syndrome 49 3 0.010 None 1.000 1 2017 2017