ATF6, activating transcription factor 6, 22926

N. diseases: 179; N. variants: 30
Disease: ACHROMATOPSIA 7 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225297
Disease: ACHROMATOPSIA 7
ACHROMATOPSIA 7 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. 26029869 2015
CUI: C4225297
Disease: ACHROMATOPSIA 7
ACHROMATOPSIA 7 		0.700 GeneticVariation disease UNIPROT Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. 26029869 2015
CUI: C4225297
Disease: ACHROMATOPSIA 7
ACHROMATOPSIA 7 		0.700 Biomarker disease CLINGEN Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. 26029869 2015
CUI: C4225297
Disease: ACHROMATOPSIA 7
ACHROMATOPSIA 7 		0.700 CausalMutation disease CLINVAR Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. 26029869 2015
CUI: C4225297
Disease: ACHROMATOPSIA 7
ACHROMATOPSIA 7 		0.700 GeneticVariation disease UNIPROT Mutation of ATF6 causes autosomal recessive achromatopsia. 26063662 2015
CUI: C4225297
Disease: ACHROMATOPSIA 7
ACHROMATOPSIA 7 		0.700 Biomarker disease CLINGEN Mutation of ATF6 causes autosomal recessive achromatopsia. 26063662 2015
CUI: C4225297
Disease: ACHROMATOPSIA 7
ACHROMATOPSIA 7 		0.700 GeneticVariation disease CLINVAR
CUI: C4225297
Disease: ACHROMATOPSIA 7
ACHROMATOPSIA 7 		0.700 Biomarker disease CTD_human