rs1553407942
EIF2AK3;LOC101928371
Wolcott-Rallison syndrome
A
0.700
CausalMutation
CLINVAR
rs869025179
EIF2AK3;LOC101928371
Wolcott-Rallison syndrome
T
0.700
CausalMutation
CLINVAR
rs866814797
EIF2AK3;LOC101928371
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
rs121908569
×
Entrez Id:
9451
Gene Symbol:
EIF2AK3
EIF2AK3
Wolcott-Rallison syndrome
T
0.800
CausalMutation
CLINVAR
rs121908569
×
Entrez Id:
9451
Gene Symbol:
EIF2AK3
EIF2AK3
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
rs7571971
×
Entrez Id:
9451
Gene Symbol:
EIF2AK3
EIF2AK3
Progressive supranuclear palsy
0.800
GeneticVariation
GWASCAT
Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.
21685912
2011
rs7571971
×
Entrez Id:
9451
Gene Symbol:
EIF2AK3
EIF2AK3
Progressive supranuclear palsy
0.800
GeneticVariation
GWASDB
Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.
21685912
2011
rs11681299
×
Entrez Id:
9451
Gene Symbol:
EIF2AK3
EIF2AK3
Body Height
0.700
GeneticVariation
GWASCAT
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
30595370
2019
rs11684404
×
Entrez Id:
9451
Gene Symbol:
EIF2AK3
EIF2AK3
Body Height
T
0.700
GeneticVariation
GWASCAT
Defining the role of common variation in the genomic and biological architecture of adult human height.
25282103
2014
rs11684404
×
Entrez Id:
9451
Gene Symbol:
EIF2AK3
EIF2AK3
Height
T
0.700
GeneticVariation
GWASDB
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
20881960
2010
rs11684404
×
Entrez Id:
9451
Gene Symbol:
EIF2AK3
EIF2AK3
Body Height
T
0.700
GeneticVariation
GWASCAT
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
20881960
2010
rs11898161
×
Entrez Id:
9451
Gene Symbol:
EIF2AK3
EIF2AK3
Body Height
0.700
GeneticVariation
GWASCAT
Characterizing rare and low-frequency height-associated variants in the Japanese population.
31562340
2019
rs121908570
×
Entrez Id:
9451
Gene Symbol:
EIF2AK3
EIF2AK3
Wolcott-Rallison syndrome
A
0.700
CausalMutation
CLINVAR
rs1558652941
×
Entrez Id:
9451
Gene Symbol:
EIF2AK3
EIF2AK3
Wolcott-Rallison syndrome
A
0.700
CausalMutation
CLINVAR
rs7571971
×
Entrez Id:
9451
Gene Symbol:
EIF2AK3
EIF2AK3
Vital capacity
0.700
GeneticVariation
GWASCAT
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
30595370
2019
rs797045558
×
Entrez Id:
9451
Gene Symbol:
EIF2AK3
EIF2AK3
Wolcott-Rallison syndrome
C
0.700
CausalMutation
CLINVAR
rs864621972
×
Entrez Id:
9451
Gene Symbol:
EIF2AK3
EIF2AK3
Wolcott-Rallison syndrome
A
0.700
CausalMutation
CLINVAR
Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders.
26380986
2015
rs867529
×
Entrez Id:
9451
Gene Symbol:
EIF2AK3
EIF2AK3
Body Height
C
0.700
GeneticVariation
GWASCAT
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
25429064
2015
rs867529
×
Entrez Id:
9451
Gene Symbol:
EIF2AK3
EIF2AK3
Height
0.700
GeneticVariation
GWASDB
Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height.
21194676
2011
rs869025178
×
Entrez Id:
9451
Gene Symbol:
EIF2AK3
EIF2AK3
Wolcott-Rallison syndrome
TA
0.700
CausalMutation
CLINVAR
rs761374228
×
Entrez Id:
9451
Gene Symbol:
EIF2AK3
EIF2AK3
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
rs761374228
×
Entrez Id:
9451
Gene Symbol:
EIF2AK3
EIF2AK3
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
rs1003629254
×
Entrez Id:
9451
Gene Symbol:
EIF2AK3
EIF2AK3
Focal Segmental Glomerulosclerosis, Not Otherwise Specified
0.010
GeneticVariation
BEFREE
A compound heterozygous podocin mutation was identified in our FSGS patient, leading to a truncated (podocin (V165X)) and a missense mutant protein (podocin (R168H )), respectively.
19674119
2009
rs1003629254
×
Entrez Id:
9451
Gene Symbol:
EIF2AK3
EIF2AK3
Focal glomerulosclerosis
0.010
GeneticVariation
BEFREE
A compound heterozygous podocin mutation was identified in our FSGS patient, leading to a truncated (podocin (V165X)) and a missense mutant protein (podocin (R168H )), respectively.
19674119
2009
rs1201810520
×
Entrez Id:
9451
Gene Symbol:
EIF2AK3
EIF2AK3
Neonatal hepatitis
0.010
GeneticVariation
BEFREE
The Z variant (Glu342Lys ) of α(1)-antitrypsin (AT) polymerizes and accumulates in the hepatocyte endoplasmic reticulum (ER) predisposing to neonatal hepatitis and liver cirrhosis.
22425623
2012