Disease: Intellectual Disability ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs672601376
rs672601376
Entrez Id: 2904;105369668
Gene Symbol: GRIN2B;LOC105369668
GRIN2B;LOC105369668
CUI: C3714756
Disease:
Intellectual Disability 		0.010 GeneticVariation BEFREE The patient with ID and focal epilepsy had a missense mutation in the extracellular glutamate-binding domain (p.Arg540His), whereas both West syndrome patients carried missense mutations within the NR2B ion channel-forming re-entrant loop (p.Asn615Ile, p.Val618Gly). 24272827 2014
dbSNP: rs672601378
rs672601378
Entrez Id: 2904;105369668
Gene Symbol: GRIN2B;LOC105369668
GRIN2B;LOC105369668
CUI: C3714756
Disease:
Intellectual Disability 		0.010 GeneticVariation BEFREE The patient with ID and focal epilepsy had a missense mutation in the extracellular glutamate-binding domain (p.Arg540His), whereas both West syndrome patients carried missense mutations within the NR2B ion channel-forming re-entrant loop (p.Asn615Ile, p.Val618Gly). 24272827 2014