Source: MGD

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		0.200 Biomarker MGD Rpe65-/- and Lrat-/- mice: comparable models of leber congenital amaurosis. 18296659

2008
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		0.200 Biomarker MGD R91W mutation in Rpe65 leads to milder early-onset retinal dystrophy due to the generation of low levels of 11-cis-retinal. 17933883

2008
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		0.200 Biomarker MGD Correlation of regenerable opsin with rod ERG signal in Rpe65-/- mice during development and aging. 12506090

2003
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		0.200 Biomarker MGD Spontaneous activity of opsin apoprotein is a cause of Leber congenital amaurosis. 14517541

2003
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		0.200 Biomarker MGD New views on RPE65 deficiency: the rod system is the source of vision in a mouse model of Leber congenital amaurosis. 11528395

2001
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		0.200 Biomarker MGD Protection of Rpe65-deficient mice identifies rhodopsin as a mediator of light-induced retinal degeneration. 10802658

2000
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		0.200 Biomarker MGD Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle. 9843205

1998