Gene: EIF2S3 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1968
Gene Symbol: EIF2S3
EIF2S3 		0.410 Biomarker group GENOMICS_ENGLAND EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO. 28055140 2017
Entrez Id: 1968
Gene Symbol: EIF2S3
EIF2S3 		0.410 GeneticVariation group BEFREE PERK mutations are associated with the Wolcott-Rallison syndrome of infantile diabetes and mutations that prevent the alpha-subunit of eIF2 from being phosphorylated by PERK, block beta-cell development, and impair gluconeogenesis. 12475790 2002
Entrez Id: 1968
Gene Symbol: EIF2S3
EIF2S3 		0.410 CausalMutation group CLINVAR
Entrez Id: 1968
Gene Symbol: EIF2S3
EIF2S3 		0.410 Biomarker group HPO