RPE65, retinoid isomerohydrolase RPE65, 6121

N. diseases: 431; N. variants: 63
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: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder) 		disease Eye Diseases Disease or Syndrome 7 36 0.960 None 0.981 53 36 1997 2018
CUI: C3151086
Disease: Retinitis Pigmentosa 20
Retinitis Pigmentosa 20 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1 27 0.910 moderate 1.000 36 27 1998 2018
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		disease Eye Diseases Disease or Syndrome 83 109 0.800 definitive 0.989 94 13 1997 2020
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 546 541 0.800 moderate 1.000 20 5 1998 2019
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration 		phenotype Eye Diseases Pathologic Function 125 2 0.600 strong 1.000 1 1 2014 2014
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases Disease or Syndrome 100 46 0.520 strong 1.000 4 2006 2018
CUI: C0456909
Disease: Blindness
Blindness 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 393 34 0.500 None 1.000 29 2 2001 2020
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		group Eye Diseases Disease or Syndrome 219 227 0.500 None 1.000 22 3 1997 2019
CUI: C0015398
Disease: Eye Diseases, Hereditary
Eye Diseases, Hereditary 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 9 0.500 strong 1.000 1 2007 2007
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 0.390 None 1.000 9 2004 2018
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		group Eye Diseases Disease or Syndrome 714 56 0.370 strong 1.000 7 2008 2019
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group Eye Diseases Disease or Syndrome 400 14 0.320 None 1.000 2 2014 2020
CUI: C1879328
Disease: Blindness both eyes NOS (disorder)
Blindness both eyes NOS (disorder) 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 7 0.310 None 1.000 3 2005 2019
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		disease Disease or Syndrome 29 41 0.300 moderate 1.000 5 2001 2017
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 3 1997 2009
CUI: C0339730
Disease: Blindness, Acquired
Blindness, Acquired 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 3 0.300 None 1.000 2 2005 2005
CUI: C0271215
Disease: Blindness, Legal
Blindness, Legal 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 10 0.300 None 1.000 2 2005 2005
CUI: C0155003
Disease: Blindness, Transient
Blindness, Transient 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Pathologic Function 3 0.300 None 1.000 2 2005 2005
CUI: C0750958
Disease: Blindness, Monocular
Blindness, Monocular 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 4 0.300 None 1.000 2 2005 2005
CUI: C0376288
Disease: Amaurosis
Amaurosis 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 3 0.300 None 1.000 2 2005 2005
CUI: C0221473
Disease: Blindness, Hysterical
Blindness, Hysterical 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Mental or Behavioral Dysfunction 3 0.300 None 1.000 2 2005 2005
CUI: C1837873
Disease: LEBER CONGENITAL AMAUROSIS 9 (disorder)
LEBER CONGENITAL AMAUROSIS 9 (disorder) 		disease Eye Diseases Disease or Syndrome 6 22 0.300 strong 1.000 1 1997 1997
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 241 7 0.300 limited 0
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 7 1998 2008
CUI: C0011853
Disease: Diabetes Mellitus, Experimental
Diabetes Mellitus, Experimental 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Experimental Model of Disease 522 0.200 None 1.000 1 2011 2011