RDH12, retinol dehydrogenase 12, 145226

N. diseases: 56; N. variants: 24
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: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13 		disease Eye Diseases Disease or Syndrome 2 20 0.710 None 1.000 19 20 2004 2019
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		disease Eye Diseases Disease or Syndrome 83 109 0.500 None 1.000 15 4 2004 2019
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		disease Eye Diseases Disease or Syndrome 81 60 0.100 None 1.000 10 2 2007 2019
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		group Eye Diseases Disease or Syndrome 219 227 0.460 None 1.000 7 2 2004 2019
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		group Eye Diseases Disease or Syndrome 714 56 0.040 None 1.000 4 2011 2017
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 194 33 0.030 None 1.000 3 2004 2018
CUI: C0456909
Disease: Blindness
Blindness 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 393 34 0.120 None 1.000 2 2007 2008
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 254 51 0.020 None 1.000 2 1 2007 2018
CUI: C1288283
Disease: Atrophoderma maculatum
Atrophoderma maculatum 		disease Skin and Connective Tissue Diseases Disease or Syndrome 39 2 0.020 None 1.000 2 2004 2017
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 0.020 None 1.000 2 2019 2019
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 86 53 0.120 None 1.000 2 1 2007 2018
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 85 65 0.020 None 1.000 2 2008 2019
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group Eye Diseases Disease or Syndrome 400 14 0.300 None 1.000 2 2011 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 0.010 None 1.000 1 2007 2007
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration 		phenotype Eye Diseases Pathologic Function 125 2 0.300 None 1.000 1 2005 2005
CUI: C0311338
Disease: Fundus Albipunctatus
Fundus Albipunctatus 		disease Eye Diseases Congenital Abnormality 9 21 0.010 None 1.000 1 2004 2004
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 2019 2019
CUI: C4551633
Disease: Pigmentary retinal dystrophy
Pigmentary retinal dystrophy 		disease Eye Diseases Disease or Syndrome 9 4 0.010 None 1.000 1 2004 2004
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		phenotype Anatomical Abnormality 56 29 0.100 None 1.000 1 1 2004 2004
CUI: C4703503
Disease: Mild hypermetropia
Mild hypermetropia 		disease Eye Diseases Disease or Syndrome 1 0.010 None 1.000 1 2004 2004
CUI: C3808249
Disease: Abnormality of the optic disc
Abnormality of the optic disc 		phenotype Finding 26 4 0.100 None 0
CUI: C4024818
Disease: Progressive night blindness
Progressive night blindness 		phenotype Eye Diseases Finding 87 3 0.100 None 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype Finding 779 0.100 None 0
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 180 101 0.100 None 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 407 35 0.100 None 0