Disease: MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY (disorder) ×
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