ABCA4, ATP binding cassette subfamily A member 4, 24

N. diseases: 227; N. variants: 372
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: C1866422
Disease: RETINITIS PIGMENTOSA 19
RETINITIS PIGMENTOSA 19 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1 22 0.800 None 1.000 10 22 1999 2017
CUI: C0271086
Disease: Toxic maculopathy
Toxic maculopathy 		disease Eye Diseases Disease or Syndrome 1 0.010 None 1.000 1 2015 2015
CUI: C1970573
Disease: MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO
MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO 		phenotype Finding 1 2 0.100 None 0 2
CUI: C4692584
Disease: MANDIBULOFACIAL DYSOSTOSIS WITH MENTAL RETARDATION
MANDIBULOFACIAL DYSOSTOSIS WITH MENTAL RETARDATION 		disease Disease or Syndrome 1 1 0.100 None 0 1
CUI: C3495438
Disease: Macular Degeneration, Age-Related, 2
Macular Degeneration, Age-Related, 2 		disease Eye Diseases Disease or Syndrome 2 27 0.700 None 1.000 2 26 1997 2009
CUI: C4022725
Disease: Retinal astrocytic hamartoma
Retinal astrocytic hamartoma 		disease Neoplastic Process 2 0.010 None 1.000 1 2007 2007
CUI: C4293702
Disease: Foveal atrophy
Foveal atrophy 		phenotype Anatomical Abnormality 2 0.010 None 1.000 1 2013 2013
CUI: C4477018
Disease: Sectoral retinitis pigmentosa
Sectoral retinitis pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 2 1 0.100 None 0 1
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
CONE-ROD DYSTROPHY 3 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 3 53 0.900 None 1.000 32 53 1998 2018
CUI: C1863534
Disease: Stargardt disease 4
Stargardt disease 4 		disease Eye Diseases Disease or Syndrome 3 1 0.200 None 1.000 4 1999 2018
CUI: C1838644
Disease: Stargardt disease 3
Stargardt disease 3 		disease Eye Diseases Disease or Syndrome 4 3 0.220 None 1.000 6 1998 2018
CUI: C4021559
Disease: Retinitis pigmentosa inversa
Retinitis pigmentosa inversa 		disease Eye Diseases Disease or Syndrome 4 0.100 None 0
CUI: C4282180
Disease: Juvenile macular degeneration
Juvenile macular degeneration 		disease Disease or Syndrome 5 0.500 None 1.000 4 1999 2018
CUI: C0423414
Disease: Retinal flecking
Retinal flecking 		phenotype Finding 5 1 0.100 None 0 1
CUI: C4025849
Disease: Abnormal foveal morphology
Abnormal foveal morphology 		disease Anatomical Abnormality 5 0.100 None 0
CUI: C4072987
Disease: Yellow/white lesions of the macula
Yellow/white lesions of the macula 		phenotype Finding 5 0.100 None 0
CUI: C1828210
Disease: Macular dystrophy, concentric annular
Macular dystrophy, concentric annular 		phenotype Eye Diseases Finding 6 5 0.100 None 1.000 1 2 2016 2016
CUI: C4015286
Disease: MACULAR DEGENERATION, EARLY-ONSET
MACULAR DEGENERATION, EARLY-ONSET 		disease Disease or Syndrome 6 3 0.010 None 1.000 1 2001 2001
CUI: C1720251
Disease: Retinal pigment epithelium atrophy
Retinal pigment epithelium atrophy 		disease Acquired Abnormality 7 2 0.020 None 1.000 2 2012 2016
CUI: C2733564
Disease: Full thickness hole of macula lutea
Full thickness hole of macula lutea 		disease Eye Diseases Disease or Syndrome 7 0.010 None 1.000 1 2006 2006
CUI: C0521648
Disease: Neonatal respiratory failure
Neonatal respiratory failure 		disease Respiratory Tract Diseases Disease or Syndrome 8 0.010 None 1.000 1 2014 2014
CUI: C0271092
Disease: Progressive cone dystrophy (without rod involvement)
Progressive cone dystrophy (without rod involvement) 		disease Eye Diseases Disease or Syndrome 9 6 0.100 None 1.000 1 2 2019 2019
CUI: C0271215
Disease: Blindness, Legal
Blindness, Legal 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 10 0.010 None 1.000 1 2012 2012
CUI: C0730294
Disease: North Carolina macular dystrophy
North Carolina macular dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 10 3 0.010 None 1.000 1 1998 1998
CUI: C3549703
Disease: Retinal thinning
Retinal thinning 		phenotype Finding 11 0.100 None 0