RPE, ribulose-5-phosphate-3-epimerase, 6120

N. diseases: 90; N. variants: 4
Disease: Glycogen storage disease type II ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.040 Biomarker disease BEFREE Strong experimental evidence from studies of human donors with AMD supports the emerging hypothesis that defects in RPE mitochondria drive AMD pathology. 30025108 2018
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.040 Biomarker disease BEFREE RPE from dry AMD globes, genetically engineered mice lacking Cryba1 globally or specifically in the RPE, spontaneous mutant rats (Nuc1) with a loss-of-function mutation in Cryba1, and the melanoma OCM3 cell line were used. 30098172 2018
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.040 Biomarker disease BEFREE Early AMD-like defects in the RPE and retinal degeneration in aged mice with RPE-specific deletion of <i>Atg5</i> or <i>Atg7</i>. 28465655 2017
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.040 Biomarker disease BEFREE A human apoB100 transgenic mouse expresses human apoB100 in the RPE and develops features of early AMD. 19450445 2009