EIF2S3, eukaryotic translation initiation factor 2 subunit gamma, 1968
N. diseases: 107; N. variants: 6
Source: ALL
| Disease | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year |
|---|---|---|---|---|---|---|---|
|
|
0.750 | GeneticVariation | disease | BEFREE | Addition of the drug ISRIB, an activator of the eIF2 guanine nucleotide exchange factor, rescues the cell growth, translation, and neuronal differentiation defects associated with the EIF2S3 mutation, offering the possibility of therapeutic intervention for MEHMO syndrome. | 31836389 | 2020 |
|
|
0.750 | GeneticVariation | disease | BEFREE | Mutations in EIF2S3, encoding the eIF2γ subunit, are associated with severe intellectual disability and microcephaly, usually as part of MEHMO syndrome. | 30878599 | 2019 |
|
|
0.750 | GeneticVariation | disease | 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 |
|
|
0.750 | GeneticVariation | disease | BEFREE | Neonatal hypoglycemia, early-onset diabetes and hypopituitarism due to the mutation in EIF2S3 gene causing MEHMO syndrome. | 29303605 | 2018 |
|
|
0.750 | Biomarker | disease | GENOMICS_ENGLAND | Thus, we propose that more severe EIF2S3 mutations cause the full MEHMO phenotype, while less deleterious mutations cause a milder form of the syndrome with only a subset of the symptoms. | 28055140 | 2017 |
|
|
0.750 | GermlineCausalMutation | disease | ORPHANET | Thus, we propose that more severe EIF2S3 mutations cause the full MEHMO phenotype, while less deleterious mutations cause a milder form of the syndrome with only a subset of the symptoms. | 28055140 | 2017 |
|
|
0.750 | GeneticVariation | disease | UNIPROT | Thus, we propose that more severe EIF2S3 mutations cause the full MEHMO phenotype, while less deleterious mutations cause a milder form of the syndrome with only a subset of the symptoms. | 28055140 | 2017 |
|
|
0.750 | GeneticVariation | disease | BEFREE | Thus, we propose that more severe EIF2S3 mutations cause the full MEHMO phenotype, while less deleterious mutations cause a milder form of the syndrome with only a subset of the symptoms. | 28055140 | 2017 |
|
|
0.750 | GeneticVariation | disease | UNIPROT | Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy. | 27333055 | 2016 |
|
|
0.750 | GeneticVariation | disease | UNIPROT | eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation. | 23063529 | 2012 |
|
|
0.750 | Biomarker | disease | GENOMICS_ENGLAND | MEHMO (mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly, obesity), a novel syndrome: assignment of disease locus to xp21.1-p22.13. | 9781023 | 1998 |
|
|
0.750 | CausalMutation | disease | CLINVAR | |||
|
|
0.750 | Biomarker | disease | CTD_human | |||
|
|
0.750 | GeneticVariation | disease | CLINVAR |