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: 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: C0015397
Disease: Disorder of eye
Disorder of eye
group Eye Diseases Disease or Syndrome 400 14 0.310 strong 1.000 1 2013 2013
CUI: C0337443
Disease: Sodium measurement
Sodium measurement
phenotype Laboratory Procedure 53 69 0.300 moderate 0
CUI: C1879645
Disease: Adverse Event by CTCAE Category
Adverse Event by CTCAE Category
phenotype Finding 11 0.300 moderate 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: C0020490
Disease: Hyperopia
Hyperopia
disease Eye Diseases Disease or Syndrome 142 29 0.160 None 0.833 6 2005 2017
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: C0023980
Disease: Longevity
Longevity
phenotype Temporal Concept 48 74 0.100 None 1.000 1 1 2015 2015
CUI: C0040420
Disease: Tonometry
Tonometry
phenotype Diagnostic Procedure 206 573 0.100 None 1.000 1 1 2018 2018
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation
phenotype Finding 58 5 0.100 None 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: 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: C1840457
Disease: Retinal pigment epithelial atrophy
Retinal pigment epithelial atrophy
phenotype Finding 25 4 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: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation
phenotype Finding 215 5 0.100 None 0
CUI: C2674407
Disease: Foveoschisis
Foveoschisis
phenotype Eye Diseases Finding 1 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: 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
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