NCAM2, neural cell adhesion molecule 2, 4685

N. diseases: 21; N. variants: 10
Disease: Complete Trisomy 21 Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.020 AlteredExpression disease BEFREE Our results indicate that synapse maturation is inhibited in NCAM2-overexpressing neurons and suggest that changes in NCAM2 levels and altered submembrane Ca2+ dynamics can cause defects in synapse maturation in Down syndrome and other brain disorders associated with abnormal NCAM2 expression. 29522129 2019
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.020 Biomarker disease BEFREE In addition, the role of NCAM2 in the pathophysiology of Down syndrome is unknown. 9226371 1997