LRAT, lecithin retinol acyltransferase, 9227

N. diseases: 84; N. variants: 7
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: C2750063
Disease: Leber Congenital Amaurosis 14
Leber Congenital Amaurosis 14 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1 2 0.900 None 1.000 5 2 2001 2011
CUI: C2750064
Disease: Retinal Dystrophy, Early-Onset Severe, Lrat-Related
Retinal Dystrophy, Early-Onset Severe, Lrat-Related 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1 2 0.600 None 1.000 2 2 2008 2011
CUI: C2750065
Disease: RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED
RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1 1 0.600 None 1.000 2 1 2008 2011
CUI: C1837873
Disease: LEBER CONGENITAL AMAUROSIS 9 (disorder)
LEBER CONGENITAL AMAUROSIS 9 (disorder) 		disease Eye Diseases Disease or Syndrome 6 22 0.300 moderate 0
CUI: C3540662
Disease: Congenital Amaurosis of Retinal Origin
Congenital Amaurosis of Retinal Origin 		disease Eye Diseases Disease or Syndrome 8 0.300 None 1.000 1 2009 2009
CUI: C0015398
Disease: Eye Diseases, Hereditary
Eye Diseases, Hereditary 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 9 0.300 None 1.000 1 2007 2007
CUI: C1405854
Disease: Retinitis punctata albescens (disorder)
Retinitis punctata albescens (disorder) 		disease Eye Diseases Disease or Syndrome 10 10 0.010 None 1.000 1 2012 2012
CUI: C1858080
Disease: Retinal Dystrophy, Early Onset Severe
Retinal Dystrophy, Early Onset Severe 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 14 2 0.320 None 1.000 3 2001 2012
CUI: C4703439
Disease: Abnormality of fundus pigmentation
Abnormality of fundus pigmentation 		phenotype Finding 14 0.100 None 0
CUI: C1839025
Disease: Decreased light- and dark-adapted electroretinogram amplitude
Decreased light- and dark-adapted electroretinogram amplitude 		phenotype Finding 15 1 0.100 None 0
CUI: C0005754
Disease: Congenital blindness
Congenital blindness 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases Congenital Abnormality 16 3 0.100 None 0
CUI: C1855685
Disease: Undetectable electroretinogram
Undetectable electroretinogram 		phenotype Finding 21 0.100 None 0
CUI: C0000921
Disease: Accidental Falls
Accidental Falls 		phenotype Injury or Poisoning 22 0.100 None 0
CUI: C3808249
Disease: Abnormality of the optic disc
Abnormality of the optic disc 		phenotype Finding 26 4 0.100 None 0
CUI: C1855676
Disease: Aplasia/Hypoplasia of the cerebellar vermis
Aplasia/Hypoplasia of the cerebellar vermis 		phenotype Finding 30 2 0.100 None 0
CUI: C1301509
Disease: Severe visual impairment
Severe visual impairment 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 35 9 0.010 None 1.000 1 2009 2009
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 42 1 0.200 None 1.000 2 2008 2011
CUI: C0042842
Disease: Vitamin A Deficiency
Vitamin A Deficiency 		disease Nutritional and Metabolic Diseases Disease or Syndrome 51 1 0.300 None 1.000 1 2005 2005
CUI: C0235095
Disease: Visual field constriction
Visual field constriction 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 57 1 0.100 None 0
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		disease Eye Diseases Disease or Syndrome 81 60 0.050 None 1.000 5 2007 2014
CUI: C1561826
Disease: Overweight and obesity
Overweight and obesity 		disease Disease or Syndrome 81 29 0.010 None 1.000 1 2019 2019
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 0.030 None 1.000 3 2007 2018
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		disease Eye Diseases Disease or Syndrome 83 109 0.650 None 1.000 6 2006 2015
CUI: C4024818
Disease: Progressive night blindness
Progressive night blindness 		phenotype Eye Diseases Finding 87 3 0.100 None 0
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 93 6 0.100 None 0