ATF6, activating transcription factor 6, 22926

N. diseases: 179; N. variants: 30
Disease: Photophobia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085636
Disease: Photophobia
Photophobia 		0.400 Biomarker phenotype CTD_human Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. 26029869 2015
CUI: C0085636
Disease: Photophobia
Photophobia 		0.400 Biomarker phenotype HPO