DisGeNET - a database of gene-disease associations

ATF6, activating transcription factor 6, 22926

N. diseases: 179; N. variants: 30

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs16849542

Entrez Id:	22926
Gene Symbol:	ATF6

ATF6

CUI:	C0410702
Disease:

Adolescent idiopathic scoliosis

0.700

GeneticVariation

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

dbSNP:

rs16849542

Entrez Id:	22926
Gene Symbol:	ATF6

ATF6

CUI:	C1837461
Disease:

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

GeneticVariation

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

dbSNP:

rs2070150

Entrez Id:	22926
Gene Symbol:	ATF6

ATF6

CUI:	C2239176
Disease:

Liver carcinoma

0.020

GeneticVariation

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

dbSNP:

rs2070150

Entrez Id:	22926
Gene Symbol:	ATF6

ATF6

CUI:	C0019163
Disease:

Hepatitis B

0.010

GeneticVariation

BEFREE

Genetic Variations in XRCC4 (rs1805377) and ATF6 (rs2070150) are not Associated with Hepatocellular Carcinoma in Thai Patients with Hepatitis B Virus Infection.

26925648

2016

dbSNP:

rs2070150

Entrez Id:	22926
Gene Symbol:	ATF6

ATF6

CUI:	C0151517
Disease:

Complete atrioventricular block

0.010

GeneticVariation

BEFREE

The present study was conducted to evaluate any association between SNP frequencies in two genes, XRCC4 (rs1805377) and ATF6 (rs2070150), and the risk of CHB and HCC development in Thai patients.

26925648

2016

dbSNP:

rs761357250

Entrez Id:	22926
Gene Symbol:	ATF6

ATF6

CUI:	C4225297
Disease:

ACHROMATOPSIA 7

0.800

GeneticVariation

UNIPROT

Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.

26029869

2015

dbSNP:

rs761357250

Entrez Id:	22926
Gene Symbol:	ATF6

ATF6

CUI:	C4225297
Disease:

ACHROMATOPSIA 7

0.800

GeneticVariation

UNIPROT

Mutation of ATF6 causes autosomal recessive achromatopsia.

26063662

2015

dbSNP:

rs761357250

Entrez Id:	22926
Gene Symbol:	ATF6

ATF6

CUI:	C4225297
Disease:

ACHROMATOPSIA 7

0.800

CausalMutation

CLINVAR

Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.

26029869

2015

dbSNP:

rs761129859

Entrez Id:	22926
Gene Symbol:	ATF6

ATF6

CUI:	C4225297
Disease:

ACHROMATOPSIA 7

0.700

CausalMutation

CLINVAR

Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.

26029869

2015

dbSNP:

rs761129859

Entrez Id:	22926
Gene Symbol:	ATF6

ATF6

CUI:	C0152200
Disease:

Achromatopsia

0.700

CausalMutation

CLINVAR

Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.

26029869

2015

dbSNP:

rs761357250

Entrez Id:	22926
Gene Symbol:	ATF6

ATF6

CUI:	C0152200
Disease:

Achromatopsia

0.700

CausalMutation

CLINVAR

Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.

26029869

2015

dbSNP:

rs796065053

Entrez Id:	22926
Gene Symbol:	ATF6

ATF6

CUI:	C0152200
Disease:

Achromatopsia

0.700

CausalMutation

CLINVAR

Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.

26029869

2015

dbSNP:

rs796065053

Entrez Id:	22926
Gene Symbol:	ATF6

ATF6

CUI:	C4225297
Disease:

ACHROMATOPSIA 7

0.700

CausalMutation

CLINVAR

Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.

26029869

2015

dbSNP:

rs797045170

Entrez Id:	22926;102724329
Gene Symbol:	ATF6;LOC102724329

ATF6;LOC102724329

CUI:	C4225297
Disease:

ACHROMATOPSIA 7

0.700

CausalMutation

CLINVAR

Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.

26029869

2015

dbSNP:

rs797045170

Entrez Id:	22926;102724329
Gene Symbol:	ATF6;LOC102724329

ATF6;LOC102724329

CUI:	C0152200
Disease:

Achromatopsia

0.700

CausalMutation

CLINVAR

Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.

26029869

2015

dbSNP:

rs797045171

Entrez Id:	22926
Gene Symbol:	ATF6

ATF6

CUI:	C0152200
Disease:

Achromatopsia

0.700

CausalMutation

CLINVAR

Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.

26029869

2015

dbSNP:

rs797045171

Entrez Id:	22926
Gene Symbol:	ATF6

ATF6

CUI:	C4225297
Disease:

ACHROMATOPSIA 7

0.700

CausalMutation

CLINVAR

Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.

26029869

2015

dbSNP:

rs797045172

Entrez Id:	22926
Gene Symbol:	ATF6

ATF6

CUI:	C0152200
Disease:

Achromatopsia

0.700

CausalMutation

CLINVAR

Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.

26029869

2015

dbSNP:

rs797045172

Entrez Id:	22926
Gene Symbol:	ATF6

ATF6

CUI:	C4225297
Disease:

ACHROMATOPSIA 7

0.700

CausalMutation

CLINVAR

Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.

26029869

2015

dbSNP:

rs797045173

Entrez Id:	22926
Gene Symbol:	ATF6

ATF6

CUI:	C4225297
Disease:

ACHROMATOPSIA 7

0.700

CausalMutation

CLINVAR

Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.

26029869

2015

dbSNP:

rs797045173

Entrez Id:	22926
Gene Symbol:	ATF6

ATF6

CUI:	C0152200
Disease:

Achromatopsia

0.700

CausalMutation

CLINVAR

Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.

26029869

2015

dbSNP:

rs797045174

Entrez Id:	22926
Gene Symbol:	ATF6

ATF6

CUI:	C4225297
Disease:

ACHROMATOPSIA 7

0.700

CausalMutation

CLINVAR

Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.

26029869

2015

dbSNP:

rs797045174

Entrez Id:	22926
Gene Symbol:	ATF6

ATF6

CUI:	C0152200
Disease:

Achromatopsia

0.700

CausalMutation

CLINVAR

Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.

26029869

2015

dbSNP:

rs2070150

Entrez Id:	22926
Gene Symbol:	ATF6

ATF6

CUI:	C2239176
Disease:

Liver carcinoma

0.020

GeneticVariation

BEFREE

We identified a missense SNP (rs2070150) was significantly associated with susceptibility to HCC (p = 0.008, 0.001 and 0.007 in Beijing_302, Beijing_You'an and Guangxi samples, respectively).

24302549

2014

dbSNP:

rs1042488900

Entrez Id:	22926
Gene Symbol:	ATF6

ATF6

CUI:	C0011849
Disease:

Diabetes Mellitus

0.010

GeneticVariation

BEFREE

No association with diabetes was showed in the meta-analyses of other six genetic variants, including SLC2A10 rs2335491, ATF6 rs2070150, KLF11 rs35927125, CASQ1 rs2275703, GNB3 C825T, and IL12B 1188A/C.

23922971

2013