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 		0.320 Biomarker group BEFREE ST3GAL5-Related Disorders: A Deficiency in Ganglioside Metabolism and a Genetic Cause of Intellectual Disability and Choreoathetosis. 30185102 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.320 GeneticVariation group BEFREE Mutations in ST3GAL5 (coding GM3 synthase) were discovered as the basis for severe congenital infantile seizures, whereas mutations in B4GALNT1 (coding GM2/GD2 synthase) are the basis of hereditary spastic paraplegia accompanied by intellectual disability. 29747824 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.320 Biomarker group GENOMICS_ENGLAND Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. 25529582 2015