Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886040856
rs886040856
Entrez Id: 1968
Gene Symbol: EIF2S3
EIF2S3
CUI: C1846278
Disease:
MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY (disorder) 		0.810 GeneticVariation BEFREE Based on these findings and the structure of eIF2, we propose that the I259M mutation impairs Met-tRNAiMet binding, causing altered control of protein synthesis that underlies MEHMO syndrome. 30517694 2019
dbSNP: rs886040856
rs886040856
Entrez Id: 1968
Gene Symbol: EIF2S3
EIF2S3
CUI: C1846278
Disease:
MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY (disorder) 		0.810 GeneticVariation UNIPROT EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO. 28055140 2017
dbSNP: rs886040856
rs886040856
Entrez Id: 1968
Gene Symbol: EIF2S3
EIF2S3
CUI: C1846278
Disease:
MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY (disorder) 		0.810 GeneticVariation UNIPROT Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy. 27333055 2016
dbSNP: rs886040856
rs886040856
Entrez Id: 1968
Gene Symbol: EIF2S3
EIF2S3
CUI: C1846278
Disease:
MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY (disorder) 		0.810 GeneticVariation UNIPROT eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation. 23063529 2012
dbSNP: rs886040856
rs886040856
Entrez Id: 1968
Gene Symbol: EIF2S3
EIF2S3
CUI: C1846278
Disease:
MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY (disorder) 		G 0.810 CausalMutation CLINVAR
dbSNP: rs886040855
rs886040855
Entrez Id: 1968
Gene Symbol: EIF2S3
EIF2S3
CUI: C1846278
Disease:
MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY (disorder) 		0.800 GeneticVariation UNIPROT EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO. 28055140 2017
dbSNP: rs886040855
rs886040855
Entrez Id: 1968
Gene Symbol: EIF2S3
EIF2S3
CUI: C1846278
Disease:
MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY (disorder) 		0.800 GeneticVariation UNIPROT Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy. 27333055 2016
dbSNP: rs886040855
rs886040855
Entrez Id: 1968
Gene Symbol: EIF2S3
EIF2S3
CUI: C1846278
Disease:
MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY (disorder) 		0.800 GeneticVariation UNIPROT eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation. 23063529 2012
dbSNP: rs886040855
rs886040855
Entrez Id: 1968
Gene Symbol: EIF2S3
EIF2S3
CUI: C1846278
Disease:
MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY (disorder) 		C 0.800 CausalMutation CLINVAR
dbSNP: rs1057515578
rs1057515578
Entrez Id: 1968
Gene Symbol: EIF2S3
EIF2S3
CUI: C1846278
Disease:
MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY (disorder) 		0.710 GeneticVariation BEFREE We have identified a C-terminal frameshift mutation (Ile465Serfs) in the EIF2S3 gene in three families with MEHMO syndrome and a novel maternally inherited missense EIF2S3 variant (c.324T>A; p.Ser108Arg) in another male patient with less severe clinical symptoms. 28055140 2017
dbSNP: rs1057515578
rs1057515578
Entrez Id: 1968
Gene Symbol: EIF2S3
EIF2S3
CUI: C1846278
Disease:
MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY (disorder) 		0.710 GeneticVariation UNIPROT
dbSNP: rs5990018
rs5990018
Entrez Id: 1968
Gene Symbol: EIF2S3
EIF2S3
CUI: C0202236
Disease:
Triglycerides measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs751468976
rs751468976
Entrez Id: 1968
Gene Symbol: EIF2S3
EIF2S3
CUI: C1846278
Disease:
MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY (disorder) 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs886040857
rs886040857
Entrez Id: 1968
Gene Symbol: EIF2S3
EIF2S3
CUI: C0028754
Disease:
Obesity 		A 0.700 CausalMutation CLINVAR
dbSNP: rs886040857
rs886040857
Entrez Id: 1968
Gene Symbol: EIF2S3
EIF2S3
CUI: C1846278
Disease:
MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY (disorder) 		A 0.700 CausalMutation CLINVAR
dbSNP: rs886040857
rs886040857
Entrez Id: 1968
Gene Symbol: EIF2S3
EIF2S3
CUI: C0020619
Disease:
Hypogonadism 		A 0.700 CausalMutation CLINVAR
dbSNP: rs886040857
rs886040857
Entrez Id: 1968
Gene Symbol: EIF2S3
EIF2S3
CUI: C0036572
Disease:
Seizures 		A 0.700 CausalMutation CLINVAR
dbSNP: rs886040857
rs886040857
Entrez Id: 1968
Gene Symbol: EIF2S3
EIF2S3
CUI: C4551563
Disease:
Microcephaly (physical finding) 		A 0.700 CausalMutation CLINVAR
dbSNP: rs886040857
rs886040857
Entrez Id: 1968
Gene Symbol: EIF2S3
EIF2S3
CUI: C1843367
Disease:
Poor school performance 		A 0.700 CausalMutation CLINVAR
dbSNP: rs886040857
rs886040857
Entrez Id: 1968
Gene Symbol: EIF2S3
EIF2S3
CUI: C0011849
Disease:
Diabetes Mellitus 		A 0.700 CausalMutation CLINVAR