Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1968
Gene Symbol: EIF2S3
EIF2S3
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.410 Biomarker GENOMICS_ENGLAND EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO. 28055140

2017
Entrez Id: 1968
Gene Symbol: EIF2S3
EIF2S3
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.410 GeneticVariation 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
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.410 CausalMutation CLINVAR

Entrez Id: 1968
Gene Symbol: EIF2S3
EIF2S3
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.410 Biomarker HPO