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: 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: C4274354
Disease: Severe early childhood onset retinal dystrophy
Severe early childhood onset retinal dystrophy 		disease Disease or Syndrome 1 0.030 None 1.000 3 2011 2018
CUI: C4707246
Disease: Biallelic RPE65 mutation associated retinal dystrophy
Biallelic RPE65 mutation associated retinal dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 1 0.010 None 1.000 1 2018 2018
CUI: C0233593
Disease: Eye poking
Eye poking 		disease Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2 0.100 None 0
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: 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: 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: 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: C2673929
Disease: Fundus atrophy
Fundus atrophy 		phenotype Finding 3 0.100 None 0
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: C1291601
Disease: Deficiency of isomerase
Deficiency of isomerase 		disease Disease or Syndrome 4 0.010 None 1.000 1 2008 2008
CUI: C3873482
Disease: Chronic ulcerative stomatitis
Chronic ulcerative stomatitis 		disease Infections; Stomatognathic Diseases Disease or Syndrome 5 0.020 None 1.000 2 2001 2012
CUI: C4049579
Disease: Keratin pearl
Keratin pearl 		disease Neoplastic Process 5 0.010 None 1.000 1 2004 2004
CUI: C1863204
Disease: ADULT SYNDROME
ADULT SYNDROME 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 6 11 0.070 None 1.000 7 2002 2013
CUI: C1854442
Disease: SPLIT-HAND/FOOT MALFORMATION 4
SPLIT-HAND/FOOT MALFORMATION 4 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 6 4 0.020 None 1.000 2 2005 2006
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: 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: 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: C1266063
Disease: Malignant eccrine spiradenoma
Malignant eccrine spiradenoma 		disease Neoplastic Process 7 0.010 None 1.000 1 2018 2018
CUI: C1337014
Disease: Grade I Chondrosarcoma
Grade I Chondrosarcoma 		disease Neoplasms Neoplastic Process 7 0.010 None 1.000 1 2017 2017
CUI: C1412016
Disease: Sweat gland carcinoma
Sweat gland carcinoma 		disease Neoplasms Neoplastic Process 7 0.010 None 1.000 1 2017 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: C0206713
Disease: Papilloma, Intraductal
Papilloma, Intraductal 		disease Neoplasms Neoplastic Process 8 0.010 None 1.000 1 2016 2016
CUI: C0334318
Disease: Lipid-rich carcinoma
Lipid-rich carcinoma 		phenotype Neoplasms Neoplastic Process 8 0.010 None 1.000 1 2011 2011
CUI: C0395886
Disease: Cholesteatoma, Congenital
Cholesteatoma, Congenital 		disease Skin and Connective Tissue Diseases Congenital Abnormality 8 0.010 None 1.000 1 2019 2019