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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.100 None 0.952 21 2002 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: C0740404
Disease: Limb defects
Limb defects 		group Congenital Abnormality 67 2 0.030 None 1.000 3 2011 2016
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: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.030 None 1.000 3 2006 2019
CUI: C0000846
Disease: Agenesis
Agenesis 		disease Congenital Abnormality 161 44 0.010 None 1.000 1 2008 2008
CUI: C0375023
Disease: Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site
Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site 		disease Disease or Syndrome 467 14 0.010 None 1.000 1 2017 2017
CUI: C0422943
Disease: Visual symptoms
Visual symptoms 		phenotype Sign or Symptom 17 5 0.010 None 1.000 1 2002 2002
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor 		phenotype Neoplastic Process 735 33 0.010 None 1.000 1 2018 2018
CUI: C0543968
Disease: Cone dysfunction syndrome
Cone dysfunction syndrome 		disease Disease or Syndrome 25 2 0.010 None 1.000 1 2017 2017
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.110 None 1.000 1 2018 2018
CUI: C0677944
Disease: Sentinel node (disorder)
Sentinel node (disorder) 		disease Disease or Syndrome 130 5 0.010 None 1.000 1 2011 2011
CUI: C1260959
Disease: Drusen
Drusen 		disease Disease or Syndrome 57 18 0.010 None 1.000 1 2001 2001
CUI: C1266063
Disease: Malignant eccrine spiradenoma
Malignant eccrine spiradenoma 		disease Neoplastic Process 7 0.010 None 1.000 1 2018 2018
CUI: C1291601
Disease: Deficiency of isomerase
Deficiency of isomerase 		disease Disease or Syndrome 4 0.010 None 1.000 1 2008 2008
CUI: C1511789
Disease: Desmoplastic
Desmoplastic 		disease Disease or Syndrome 117 4 0.010 None 1.000 1 2005 2005
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification 		disease Disease or Syndrome 170 14 0.010 None 1.000 1 2014 2014
CUI: C1837217
Disease: Cleft lip, isolated
Cleft lip, isolated 		disease Congenital Abnormality 20 2 0.010 None 1.000 1 2007 2007
CUI: C3854222
Disease: Human immunodeficiency virus (HIV) II infection category B1
Human immunodeficiency virus (HIV) II infection category B1 		disease Disease or Syndrome 985 56 0.010 None 1.000 1 2009 2009
CUI: C4021985
Disease: Germ cell neoplasia
Germ cell neoplasia 		disease Neoplastic Process 22 0.010 None 1.000 1 2006 2006
CUI: C4049579
Disease: Keratin pearl
Keratin pearl 		disease Neoplastic Process 5 0.010 None 1.000 1 2004 2004
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		phenotype Anatomical Abnormality 78 37 0.010 None 1.000 1 2006 2006
CUI: C0375206
Disease: Hemiplegia/hemiparesis
Hemiplegia/hemiparesis 		disease Disease or Syndrome 112 2 0.100 None 0
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		phenotype Finding 158 10 0.100 None 0 1
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