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: 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
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.300 GermlineCausalMutation disease ORPHANET Identification of Somatic Mutations in Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type by Massive Parallel Sequencing. 28479318 2017
CUI: C0155015
Disease: Color Blindness, Red
Color Blindness, Red 		0.300 Biomarker disease CTD_human Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. 26029869 2015
CUI: C0155016
Disease: Color Blindness, Red-Green
Color Blindness, Red-Green 		0.300 Biomarker disease CTD_human Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. 26029869 2015
CUI: C0155017
Disease: Color Blindness, Blue
Color Blindness, Blue 		0.300 Biomarker disease CTD_human Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. 26029869 2015
CUI: C0155018
Disease: Color Blindness, Acquired
Color Blindness, Acquired 		0.300 Biomarker disease CTD_human Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. 26029869 2015
CUI: C0239777
Disease: Color Blindness, Green
Color Blindness, Green 		0.300 Biomarker phenotype CTD_human Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. 26029869 2015
CUI: C0242225
Disease: Color blindness
Color blindness 		0.300 Biomarker disease CTD_human Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. 26029869 2015
CUI: C0700501
Disease: Congenital nystagmus
Congenital nystagmus 		0.300 Biomarker disease CTD_human Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. 26029869 2015
CUI: C0751042
Disease: Color Blindness, Inherited
Color Blindness, Inherited 		0.300 Biomarker disease CTD_human Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. 26029869 2015
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
CUI: C0003949
Disease: Asbestosis
Asbestosis 		0.300 Biomarker disease CTD_human Asbestos-induced disruption of calcium homeostasis induces endoplasmic reticulum stress in macrophages. 25324550 2014
CUI: C2930617
Disease: Pulmonary Fibrosis - from Asbestos Exposure
Pulmonary Fibrosis - from Asbestos Exposure 		0.300 Biomarker disease CTD_human Asbestos-induced disruption of calcium homeostasis induces endoplasmic reticulum stress in macrophages. 25324550 2014
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		0.300 Biomarker disease CTD_human Snord 3A: a molecular marker and modulator of prion disease progression. 23349890 2013
CUI: C0036457
Disease: Scrapie
Scrapie 		0.300 Biomarker disease CTD_human Snord 3A: a molecular marker and modulator of prion disease progression. 23349890 2013
CUI: C0376329
Disease: New Variant Creutzfeldt-Jakob Disease
New Variant Creutzfeldt-Jakob Disease 		0.300 Biomarker disease CTD_human Snord 3A: a molecular marker and modulator of prion disease progression. 23349890 2013
CUI: C0751254
Disease: Creutzfeldt-Jakob Disease, Familial
Creutzfeldt-Jakob Disease, Familial 		0.300 Biomarker disease CTD_human Snord 3A: a molecular marker and modulator of prion disease progression. 23349890 2013
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.180 Biomarker disease BEFREE Our observations raise the question of whether metformin treatment could reduce oxidative stress and act as an ER stress modulator in T2D patients by promoting an adaptive unfolded protein response (s-xbp1 and p-eIF2α) in their leukocytes; this was in contrast with nonmetformin-treated patients whose response could be driven by the ATF6-dependent pro-apoptotic pathway. 29061071 2018
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.180 Biomarker disease BEFREE Our current study has determined that ATF6α was a promising therapeutic target and also highlighted the potential of TSPA in the treatment of type 2 diabetes mellitus (T2DM). 29626480 2018
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.180 GeneticVariation disease GWASDB Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians. 22158537 2011
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.180 GeneticVariation disease BEFREE Studies in Pima Indian, Caucasians and African Americans identified several SNPs in DUSP12 and ATF6, located in chromosome 1q21-q23, were associated with type 2 diabetes. 21211013 2011
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.180 Biomarker disease BEFREE Our results demonstrate that ATF6 may serve as a potential therapeutic target for the treatment of insulin resistance and type 2 diabetes. 21841811 2011
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.180 AlteredExpression disease BEFREE We also measured the expression level of ATF6 in pancreatic islets in Otsuka Long Evans Tokushima Fatty rats, a rodent model of type 2 diabetes. 18450959 2008
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.180 GeneticVariation disease BEFREE An association between genetic variation in ATF6 and type 2 diabetes (DM2) was recently reported in Pima Indians. 17440018 2007