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.
CUI: C1840457
Disease: Retinal pigment epithelial atrophy
Retinal pigment epithelial atrophy
phenotype Finding 25 4 0.100 None 0
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
group Eye Diseases Disease or Syndrome 219 227 0.100 None 0 3
Bone spicule pigmentation of the retina
phenotype Finding 24 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: C1855925
Disease: Hyperopia, High
Hyperopia, High
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Finding 47 1 0.100 None 0
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation
phenotype Finding 58 5 0.100 None 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation
phenotype Finding 215 5 0.100 None 0
CUI: C0337443
Disease: Sodium measurement
Sodium measurement
phenotype Laboratory Procedure 53 69 0.300 moderate 0
CUI: C0028077
Disease: Nyctalopia
Nyctalopia
disease Eye Diseases Disease or Syndrome 168 18 0.100 None 0
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease Eye Diseases Disease or Syndrome 770 198 0.100 None 0
CUI: C2674403
Disease: Scleral thickening
Scleral thickening
phenotype Finding 2 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: C0234632
Disease: Reduced visual acuity
Reduced visual acuity
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 147 10 0.100 None 0
CUI: C2674407
Disease: Foveoschisis
Foveoschisis
phenotype Eye Diseases Finding 1 0.100 None 0
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 194 33 0.100 None 0
Abnormal light- and dark-adapted electroretinogram
phenotype Finding 9 0.100 None 0
CUI: C4025836
Disease: Abnormal choroid morphology
Abnormal choroid morphology
disease Anatomical Abnormality 12 1 0.100 None 0
CUI: C0311338
Disease: Fundus Albipunctatus
Fundus Albipunctatus
disease Eye Diseases Congenital Abnormality 9 21 0.200 None 1.000 1 2000 2000
LATE-ONSET RETINAL DEGENERATION (disorder)
disease Eye Diseases Disease or Syndrome 17 3 0.160 None 1.000 6 1 2003 2019
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
disease Eye Diseases Disease or Syndrome 685 663 0.020 None 1.000 2 1 2003 2005
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 337 40 0.500 None 0.938 16 1 2005 2018
CUI: C0020490
Disease: Hyperopia
Hyperopia
disease Eye Diseases Disease or Syndrome 142 29 0.160 None 0.833 6 2005 2017
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: C0035304
Disease: Retinal Degeneration
Retinal Degeneration
phenotype Eye Diseases Pathologic Function 125 2 0.020 None 1.000 2 2005 2006
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