Disease: Intellectual Disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 Biomarker group GENOMICS_ENGLAND EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO. 28055140 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 GeneticVariation group BEFREE EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO. 28055140 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 GeneticVariation group BEFREE Our data confirm that EIF2S3 mutation is implicated in a rare, but recognizable, form of syndromic intellectual disability. 27333055 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 Biomarker group BEFREE These findings directly link intellectual disability to impaired translation initiation, and provide a mechanistic basis for the human disease due to partial loss of eIF2 function. 23063529 2012
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 Biomarker group HPO