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 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 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 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 GeneticVariation disease CLINVAR
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 GeneticVariation disease CLINVAR
CUI: C4225297
Disease: ACHROMATOPSIA 7
ACHROMATOPSIA 7 		0.700 GeneticVariation disease UNIPROT Mutation of ATF6 causes autosomal recessive achromatopsia. 26063662 2015
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: 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
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: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.100 GeneticVariation phenotype GWASDB Genome-wide association study of white blood cell count in 16,388 African Americans: the continental origins and genetic epidemiology network (COGENT). 21738479 2011
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		0.100 GeneticVariation disease GWASDB Genome-wide association database developed in the Japanese Integrated Database Project. 19629137 2009
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		0.100 GeneticVariation disease GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		0.100 GeneticVariation disease CLINVAR
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.100 GeneticVariation disease GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.080 GeneticVariation group BEFREE Immunohistochemistry (IHC) of ATF6 were analyzed in 137 surgically resected CRCs, 95 endoscopically resected adenomas and pTis cancers, and 136 samples from 51 UC patients (93 colitis without neoplasia, 31 dysplasia, and 12 UC-associated CRC). 28884228 2018
CUI: C0302129
Disease: Achromatopsia 1
Achromatopsia 1 		0.060 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: C0302129
Disease: Achromatopsia 1
Achromatopsia 1 		0.060 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: C0302129
Disease: Achromatopsia 1
Achromatopsia 1 		0.060 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: C0302129
Disease: Achromatopsia 1
Achromatopsia 1 		0.060 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: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.060 GeneticVariation disease BEFREE So we speculate that SNPs in ATF6 may be associated with susceptibility to HCC. 24302549 2014
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.060 GeneticVariation disease BEFREE With TaqMan real-time PCR, the results showed that no significant association between XRCC4 (rs1805377) and ATF6 (rs2070150) and risk of HCC in the Thai population. 26925648 2016
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.060 GeneticVariation disease BEFREE The mRNA levels of ASNS and ATF6 were positively correlated with each other. rs34050735 was associated with HCC in the case-control study (P = 0.003) and also an independent predictor of overall survival of HCC patients (P = 0.001). 28629319 2017