Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 6121
Gene Symbol: RPE65
RPE65 		retinoid isomerohydrolase RPE65 0.417 0.808 6.5E-14
CUI: C1859844
Disease: LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder) 		disease 0.960 None 0.981 31 21 1997 2018
Entrez Id: 6121
Gene Symbol: RPE65
RPE65 		retinoid isomerohydrolase RPE65 0.417 0.808 6.5E-14
CUI: C3151086
Disease: Retinitis Pigmentosa 20
Retinitis Pigmentosa 20 		disease 0.910 moderate 1.000 31 16 1998 2018
Entrez Id: 6121
Gene Symbol: RPE65
RPE65 		retinoid isomerohydrolase RPE65 0.417 0.808 6.5E-14
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease 0.800 moderate 1.000 1 5 1998 2019
Entrez Id: 6121
Gene Symbol: RPE65
RPE65 		retinoid isomerohydrolase RPE65 0.417 0.808 6.5E-14
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		disease 0.800 definitive 0.989 0 8 1997 2020
Entrez Id: 6121
Gene Symbol: RPE65
RPE65 		retinoid isomerohydrolase RPE65 0.417 0.808 6.5E-14
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration 		phenotype 0.600 strong 1.000 0 1 2014 2014
Entrez Id: 6121
Gene Symbol: RPE65
RPE65 		retinoid isomerohydrolase RPE65 0.417 0.808 6.5E-14
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		group 0.500 None 1.000 2 2 1997 2019
Entrez Id: 6121
Gene Symbol: RPE65
RPE65 		retinoid isomerohydrolase RPE65 0.417 0.808 6.5E-14
CUI: C0005754
Disease: Congenital blindness
Congenital blindness 		disease 0.110 None 1.000 0 1 2019 2019
Entrez Id: 6121
Gene Symbol: RPE65
RPE65 		retinoid isomerohydrolase RPE65 0.417 0.808 6.5E-14
CUI: C0271583
Disease: ACTH Deficiency, Isolated
ACTH Deficiency, Isolated 		disease 0.100 None 1.000 1 1 2018 2018
Entrez Id: 6121
Gene Symbol: RPE65
RPE65 		retinoid isomerohydrolase RPE65 0.417 0.808 6.5E-14
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		phenotype 0.100 None 0 1
Entrez Id: 6121
Gene Symbol: RPE65
RPE65 		retinoid isomerohydrolase RPE65 0.417 0.808 6.5E-14
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		disease 0.100 None 0 1