DisGeNET - a database of gene-disease associations

EIF2AK3, eukaryotic translation initiation factor 2 alpha kinase 3, 9451

N. diseases: 231; N. variants: 20

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:

rs7571971

Entrez Id:	9451
Gene Symbol:	EIF2AK3

EIF2AK3

CUI:	C0038868
Disease:

Progressive supranuclear palsy

0.800

GeneticVariation

GWASCAT

Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.

21685912

2011

dbSNP:

rs7571971

Entrez Id:	9451
Gene Symbol:	EIF2AK3

EIF2AK3

CUI:	C0038868
Disease:

Progressive supranuclear palsy

0.800

GeneticVariation

GWASDB

Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.

21685912

2011

dbSNP:

rs121908569

Entrez Id:	9451
Gene Symbol:	EIF2AK3

EIF2AK3

CUI:	C0432217
Disease:

Wolcott-Rallison syndrome

0.800

GeneticVariation

UNIPROT

EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome.

10932183

2000

dbSNP:

rs121908569

Entrez Id:	9451
Gene Symbol:	EIF2AK3

EIF2AK3

CUI:	C0432217
Disease:

Wolcott-Rallison syndrome

0.800

CausalMutation

CLINVAR

dbSNP:

rs11681299

Entrez Id:	9451
Gene Symbol:	EIF2AK3

EIF2AK3

CUI:	C0005890
Disease:

Body Height

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs11898161

Entrez Id:	9451
Gene Symbol:	EIF2AK3

EIF2AK3

CUI:	C0005890
Disease:

Body Height

0.700

GeneticVariation

GWASCAT

Characterizing rare and low-frequency height-associated variants in the Japanese population.

31562340

2019

dbSNP:

rs7571971

Entrez Id:	9451
Gene Symbol:	EIF2AK3

EIF2AK3

CUI:	C0042834
Disease:

Vital capacity

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs864621972

Entrez Id:	9451
Gene Symbol:	EIF2AK3

EIF2AK3

CUI:	C0432217
Disease:

Wolcott-Rallison syndrome

0.700

CausalMutation

CLINVAR

Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders.

26380986

2015

dbSNP:

rs867529

Entrez Id:	9451
Gene Symbol:	EIF2AK3

EIF2AK3

CUI:	C0005890
Disease:

Body Height

0.700

GeneticVariation

GWASCAT

Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.

25429064

2015

dbSNP:

rs11684404

Entrez Id:	9451
Gene Symbol:	EIF2AK3

EIF2AK3

CUI:	C0005890
Disease:

Body Height

0.700

GeneticVariation

GWASCAT

Defining the role of common variation in the genomic and biological architecture of adult human height.

25282103

2014

dbSNP:

rs867529

Entrez Id:	9451
Gene Symbol:	EIF2AK3

EIF2AK3

CUI:	C0489786
Disease:

Height

0.700

GeneticVariation

GWASDB

Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height.

21194676

2011

dbSNP:

rs11684404

Entrez Id:	9451
Gene Symbol:	EIF2AK3

EIF2AK3

CUI:	C0489786
Disease:

Height

0.700

GeneticVariation

GWASDB

Hundreds of variants clustered in genomic loci and biological pathways affect human height.

20881960

2010

dbSNP:

rs11684404

Entrez Id:	9451
Gene Symbol:	EIF2AK3

EIF2AK3

CUI:	C0005890
Disease:

Body Height

0.700

GeneticVariation

GWASCAT

Hundreds of variants clustered in genomic loci and biological pathways affect human height.

20881960

2010

dbSNP:

rs121908570

Entrez Id:	9451
Gene Symbol:	EIF2AK3

EIF2AK3

CUI:	C0432217
Disease:

Wolcott-Rallison syndrome

0.700

CausalMutation

CLINVAR

dbSNP:

rs1553407942

Entrez Id:	9451;101928371
Gene Symbol:	EIF2AK3;LOC101928371

EIF2AK3;LOC101928371

CUI:	C0432217
Disease:

Wolcott-Rallison syndrome

0.700

CausalMutation

CLINVAR

dbSNP:

rs1558652941

Entrez Id:	9451
Gene Symbol:	EIF2AK3

EIF2AK3

CUI:	C0432217
Disease:

Wolcott-Rallison syndrome

0.700

CausalMutation

CLINVAR

dbSNP:

rs797045558

Entrez Id:	9451
Gene Symbol:	EIF2AK3

EIF2AK3

CUI:	C0432217
Disease:

Wolcott-Rallison syndrome

0.700

CausalMutation

CLINVAR

dbSNP:

rs869025178

Entrez Id:	9451
Gene Symbol:	EIF2AK3

EIF2AK3

CUI:	C0432217
Disease:

Wolcott-Rallison syndrome

0.700

CausalMutation

CLINVAR

dbSNP:

rs869025179

Entrez Id:	9451;101928371
Gene Symbol:	EIF2AK3;LOC101928371

EIF2AK3;LOC101928371

CUI:	C0432217
Disease:

Wolcott-Rallison syndrome

0.700

CausalMutation

CLINVAR

dbSNP:

rs761374228

Entrez Id:	9451
Gene Symbol:	EIF2AK3

EIF2AK3

CUI:	C0004352
Disease:

Autistic Disorder

0.020

GeneticVariation

BEFREE

Here, we have investigated whether this protective cellular response is detectable in the knock-in mouse model of autism endogenously expressing R451C NLGN3.

30201312

2018

dbSNP:

rs761374228

Entrez Id:	9451
Gene Symbol:	EIF2AK3

EIF2AK3

CUI:	C0004352
Disease:

Autistic Disorder

0.020

GeneticVariation

BEFREE

Autism-associated R451C mutation in neuroligin3 leads to activation of the unfolded protein response in a PC12 Tet-On inducible system.

26621873

2016

dbSNP:

rs147458427

Entrez Id:	9451
Gene Symbol:	EIF2AK3

EIF2AK3

CUI:	C0002395
Disease:

Alzheimer's Disease

0.010

GeneticVariation

BEFREE

Gene-based burden analysis in a Dutch AD exome cohort containing 547 cases and 1070 controls showed a significant association of EIF2AK3 with AD (OR 1.84 [95% CI 1.07-3.17], p-value 0.03), mainly driven by the variant p.R240H.

30314817

2019

dbSNP:

rs900837802

Entrez Id:	9451
Gene Symbol:	EIF2AK3

EIF2AK3

CUI:	C0239946
Disease:

Fibrosis, Liver

0.010

GeneticVariation

BEFREE

Overexpression of HNRNPA1 (or its T51A mutant) in HSCs of mice inhibited liver fibrosis.

26435271

2016

dbSNP:

rs866814797

Entrez Id:	9451;101928371
Gene Symbol:	EIF2AK3;LOC101928371

EIF2AK3;LOC101928371

CUI:	C4551647
Disease:

Long QT Syndrome 1

0.010

GeneticVariation

BEFREE

Two novel homozygous mutations (Trp658Ser, c.3150+1G>T) and one known homozygous mutation (Arg1065*, c.3193C>T) in EIF2AK3 gene were identified in children with WRS.

24168455

2014

dbSNP:

rs867529

Entrez Id:	9451
Gene Symbol:	EIF2AK3

EIF2AK3

CUI:	C0362046
Disease:

Prediabetes syndrome

0.010

GeneticVariation

BEFREE

The allele C of SNP rs867529 at PERK locus was a risk factor for prediabetes, with the carriers of C allele genotype at a higher risk of prediabetes compared to non-carriers (OR = 1.279, 95% CI: 1.013-1.614, P = 0.039, after adjustment for age, sex and body mass index (BMI).

24985580

2014