SLC5A3, solute carrier family 5 member 3, 6526

N. diseases: 26; N. variants: 2
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 		0.010 AlteredExpression disease BEFREE The results suggest that SMIT1 overexpression contributes to abnormal cholinergic and glutamatergic Ca<sup>2+</sup> signals in the trisomic condition, and knockdown of DS-related genes in our Ts16-derived cell line could constitute a relevant tool to study DS-related neuronal dysfunction. 28695546 2017