Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
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0.080 | GeneticVariation | disease | BEFREE | Glial pathology in a novel spontaneous mutant mouse of the Eif2b5 gene: a vanishing white matter disease model. | 31587290 | 2019 | ||||
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0.080 | GeneticVariation | disease | BEFREE | To examine these issues, we assessed eIF2B body, stress granule, and P-body induction in wild-type yeast cells and cells carrying VWMD alleles in the EIF2B2 (GCD7) and EIF2B5 (GCD6) subunits of eIF2B. | 30115954 | 2018 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | Vanishing white matter disease with a novel EIF2B5 mutation: A 10-year follow-up. | 29933199 | 2018 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | Infantile onset Vanishing White Matter disease associated with a novel EIF2B5 variant, remarkably long life span, severe epilepsy, and hypopituitarism. | 25758335 | 2015 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | Vanishing white matter disease with mutations in EIF2B5 gene. | 25230711 | 2015 | ||||
|
0.080 | Biomarker | disease | BEFREE | Mutations in eukaryotic initiation factor 2B (eIF2B) cause one of the most common leukodystrophies, childhood ataxia with CNS hypomyelination/vanishing white matter disease or CACH/VWM. | 16378743 | 2006 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | Vanishing white matter disease (VWM; MIM #603896), also known as childhood ataxia with central nervous system hypomyelination (CACH) syndrome, is an autosomal recessive transmitted leukoencephalopathy related to mutations in each of the 5 genes (EIF2B1, EIF2B2, EIF2B3, EIF2B4 and EIF2B5) encoding for the 5 subunits of eukaryotic translation initiation factor 2B (eIF2B), essential for protein synthesis. | 16998732 | 2006 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | Peripheral neuropathy in vanishing white matter disease with a novel EIF2B5 mutation. | 16864840 | 2006 |