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: C1720251
Disease: Retinal pigment epithelium atrophy
Retinal pigment epithelium atrophy 		disease Acquired Abnormality 7 2 0.020 None 1.000 2 2012 2016
CUI: C0333307
Disease: Superficial ulcer
Superficial ulcer 		disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 242 10 0.010 None 1.000 1 2014 2014
CUI: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 878 124 0.100 None 0
CUI: C0877104
Disease: Retinal toxicity
Retinal toxicity 		disease Anatomical Abnormality 12 0.010 None 1.000 1 2001 2001
CUI: C4293702
Disease: Foveal atrophy
Foveal atrophy 		phenotype Anatomical Abnormality 2 0.010 None 1.000 1 2013 2013
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		phenotype Anatomical Abnormality 78 37 0.010 None < 0.001 1 1 2010 2010
CUI: C4024756
Disease: Abnormality of macular pigmentation
Abnormality of macular pigmentation 		disease Anatomical Abnormality 25 0.100 None 0
CUI: C4025836
Disease: Abnormal choroid morphology
Abnormal choroid morphology 		disease Anatomical Abnormality 12 1 0.100 None 0
CUI: C4025849
Disease: Abnormal foveal morphology
Abnormal foveal morphology 		disease Anatomical Abnormality 5 0.100 None 0
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 82 31 0.100 None 0.909 11 3 1999 2014
CUI: C0339508
Disease: Hereditary macular dystrophy
Hereditary macular dystrophy 		disease Congenital Abnormality 39 10 0.090 None 1.000 9 2 1997 2019
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 255 282 0.410 None 0.750 4 13 2010 2017
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 611 158 0.110 None 0.667 3 3 2010 2017
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 37 10 0.010 None 1.000 1 2018 2018
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 119 43 0.010 None 1.000 1 2012 2012
CUI: C0240340
Disease: Microdontia (disorder)
Microdontia (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 109 6 0.010 None 1.000 1 1 2012 2012
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 32 52 0.100 None 1.000 1 2 2002 2002
CUI: C0339539
Disease: Familial Exudative Vitreoretinopathy
Familial Exudative Vitreoretinopathy 		disease Congenital Abnormality 19 18 0.310 None < 0.001 1 1 2018 2018
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 295 70 0.010 None < 0.001 1 1 2010 2010
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 190 75 0.010 None < 0.001 1 1 2010 2010
CUI: C4021813
Disease: Oral cleft
Oral cleft 		disease Congenital Abnormality 85 28 0.100 None 1.000 1 2 2017 2017
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 237 0.100 None 0
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		phenotype Disease or Syndrome 45 24 1.000 limited 0.995 189 20 1997 2020
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		disease Disease or Syndrome 23 317 1.000 None 0.978 181 308 1997 2020
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		disease Eye Diseases Disease or Syndrome 685 663 0.700 strong 0.957 70 7 1997 2019