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 GeneticVariation group BEFREE Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy. 28051072 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 Biomarker group GENOMICS_ENGLAND Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy. 28051072 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 GeneticVariation group BEFREE GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function. 28228639 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 GeneticVariation group BEFREE Recently, de novo mutations in GRIN1 have been identified in patients with nonsyndromic intellectual disability and epileptic encephalopathy. 25864721 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 Biomarker group HPO