ATF6, activating transcription factor 6, 22926

N. diseases: 179; N. variants: 30
Disease: Monochromatopsia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751043
Disease: Monochromatopsia
Monochromatopsia 		0.300 Biomarker phenotype CTD_human Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. 26029869 2015