ATF6, activating transcription factor 6, 22926

N. diseases: 179; N. variants: 30
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0152200
Disease: Achromatopsia
Achromatopsia
0.760 Biomarker disease BEFREE Additionally, nonconfocal dark-field AOSLO images of the retinal pigment epithelium were obtained, with quantitative analysis performed in one subject with ATF6-ACHM. 31237654 2019
CUI: C0152200
Disease: Achromatopsia
Achromatopsia
0.760 GeneticVariation disease BEFREE Importantly, ATF6 containing a luminal achromatopsia eye disease mutation, unresponsive to proteotoxic stress, can be activated by fenretinide, a drug that upregulates DHC, suggesting a potential therapy for this and other ATF6-related diseases including heart disease and stroke. 30086303 2018
CUI: C0152200
Disease: Achromatopsia
Achromatopsia
0.760 GeneticVariation disease BEFREE Here, we comprehensively tested the function of achromatopsia-associated ATF6 mutations and found that they group into three distinct molecular pathomechanisms: class 1 ATF6 mutants show impaired ER-to-Golgi trafficking and diminished regulated intramembrane proteolysis and transcriptional activity; class 2 ATF6 mutants bear the entire ATF6 cytosolic domain with fully intact transcriptional activity and constitutive induction of downstream target genes, even in the absence of ER stress; and class 3 ATF6 mutants have complete loss of transcriptional activity because of absent or defective bZIP domains. 28028229 2017
CUI: C0152200
Disease: Achromatopsia
Achromatopsia
0.760 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: C0152200
Disease: Achromatopsia
Achromatopsia
0.760 GermlineCausalMutation disease ORPHANET Mutation of ATF6 causes autosomal recessive achromatopsia. 26063662 2015
CUI: C0152200
Disease: Achromatopsia
Achromatopsia
0.760 Biomarker disease GENOMICS_ENGLAND Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. 26029869 2015
CUI: C0152200
Disease: Achromatopsia
Achromatopsia
0.760 Biomarker disease BEFREE This new ACHM-related gene suggests a crucial and unexpected role for ATF6A in human foveal development and cone function and adds to the list of genes that, despite ubiquitous expression, when mutated can result in an isolated retinal photoreceptor phenotype. 26029869 2015
CUI: C0152200
Disease: Achromatopsia
Achromatopsia
0.760 Biomarker disease CTD_human Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. 26029869 2015
CUI: C0152200
Disease: Achromatopsia
Achromatopsia
0.760 CausalMutation disease CLINVAR Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. 26029869 2015
CUI: C0152200
Disease: Achromatopsia
Achromatopsia
0.760 GeneticVariation disease BEFREE Within the ATF6 gene, a single-base insertion variant c.355_356dupG (p.Glu119Glyfs*8) was identified, which completely segregates with the ACHM phenotype within the family. 26063662 2015
CUI: C0152200
Disease: Achromatopsia
Achromatopsia
0.760 GermlineCausalMutation disease ORPHANET Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. 26029869 2015
CUI: C0152200
Disease: Achromatopsia
Achromatopsia
0.760 Biomarker disease HPO
CUI: C0152200
Disease: Achromatopsia
Achromatopsia
0.760 GeneticVariation disease CLINVAR
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
CUI: C0009398
Disease: Color vision defect
Color vision defect
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 CTD_human Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. 26029869 2015
CUI: C0009398
Disease: Color vision defect
Color vision defect
0.400 Biomarker phenotype HPO
CUI: C0085636
Disease: Photophobia
Photophobia
0.400 Biomarker phenotype HPO