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 		0.120 Biomarker group BEFREE Mutations in the elongation factor 1 alpha 2 (EEF1A2) gene have been recently shown to cause epileptic encephalopathy (MIM # 616409 EIEE33) associated with neurodevelopmental disorders such as intellectual disability, autistic spectrum disorder, hypotonia and dysmorphic facial features. 31477274 2020
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.120 GeneticVariation group BEFREE Heterozygous mutations in the gene encoding eEF1A2, EEF1A2, have recently been shown to cause epilepsy, autism, and intellectual disability. 30370994 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.120 Biomarker group HPO