Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8891
Gene Symbol: EIF2B3
EIF2B3
0.700 Biomarker disease GENOMICS_ENGLAND Postmortem Whole Exome Sequencing Identifies Novel EIF2B3 Mutation With Prenatal Phenotype in 2 Siblings. 28597716 2017
Entrez Id: 8891
Gene Symbol: EIF2B3
EIF2B3
0.700 CausalMutation disease CLINVAR Fifteen novel EIF2B1-5 mutations identified in Chinese children with leukoencephalopathy with vanishing white matter and a long term follow-up. 25761052 2015
Entrez Id: 8891
Gene Symbol: EIF2B3
EIF2B3
0.700 CausalMutation disease CLINVAR Vanishing white matter disease in French-Canadian patients from Quebec. 25079571 2014
Entrez Id: 8891
Gene Symbol: EIF2B3
EIF2B3
0.700 Biomarker disease GENOMICS_ENGLAND A practical approach to diagnosing adult onset leukodystrophies. 24357685 2014
Entrez Id: 8891
Gene Symbol: EIF2B3
EIF2B3
0.700 GeneticVariation disease UNIPROT Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5. 21484434 2011
Entrez Id: 8891
Gene Symbol: EIF2B3
EIF2B3
0.700 GeneticVariation disease UNIPROT Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease. 19158808 2009
Entrez Id: 8891
Gene Symbol: EIF2B3
EIF2B3
0.700 Biomarker disease GENOMICS_ENGLAND Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease. 19158808 2009
Entrez Id: 8891
Gene Symbol: EIF2B3
EIF2B3
0.700 GermlineCausalMutation disease ORPHANET The effect of genotype on the natural history of eIF2B-related leukodystrophies. 15136673 2004
Entrez Id: 8891
Gene Symbol: EIF2B3
EIF2B3
0.700 GeneticVariation disease UNIPROT Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter. 11835386 2002
Entrez Id: 8891
Gene Symbol: EIF2B3
EIF2B3
0.700 GeneticVariation disease CLINVAR