ATF6, activating transcription factor 6, 22926

N. diseases: 179; N. variants: 30
Disease: Retinitis Pigmentosa ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.310 GeneticVariation disease BEFREE We review the role of ER stress and UPR in retinitis pigmentosa arising from misfolded rhodopsins (RHO) and in achromatopsia arising from genetic mutations in Activating Transcription Factor 6 (ATF6). 27117871 2016
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.310 Biomarker disease CTD_human Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. 26029869 2015