rs63751163, PSEN1

N. diseases: 7
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
0.020 GeneticVariation BEFREE We showed previously that PS1 exon 9 deletion (PS1 DeltaE9) and L250S mutations predispose SH-SY5Y neuroblastoma cells to high glucose stress-induced apoptosis and that the anti-apoptotic effect of insulin-like growth factor I (IGF-I) is compromised by these mutations. 11746362 2001
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
0.020 GeneticVariation BEFREE Alzheimer's disease presenilin-1 exon 9 deletion and L250S mutations sensitize SH-SY5Y neuroblastoma cells to hyperosmotic stress-induced apoptosis. 10658639 2000