PRCD, photoreceptor disc component, 768206

N. diseases: 40; N. variants: 6
Disease: Blindness ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0456909
Disease: Blindness
Blindness 		0.130 GeneticVariation phenotype BEFREE Until now, the function of PRCD has remained enigmatic despite multiple demonstrations that its mutations cause blindness in humans and dogs. 31189593 2019
CUI: C0456909
Disease: Blindness
Blindness 		0.130 GeneticVariation phenotype BEFREE Remarkably, one of them is PRCD, a protein whose mutations have been shown to cause blindness, yet cellular localization remained completely unknown. 23672200 2013
CUI: C0456909
Disease: Blindness
Blindness 		0.130 Biomarker phenotype BEFREE Progressive rod-cone degeneration (prcd) is the most widespread hereditary retinal disease leading to blindness in dogs and phenotypically is the canine counterpart of retinitis pigmentosa (RP) in humans. 9501213 1998
CUI: C0456909
Disease: Blindness
Blindness 		0.130 Biomarker phenotype HPO