SOD1, superoxide dismutase 1, 6647

N. diseases: 689; N. variants: 68
Disease: Partial Trisomy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1297882
Disease: Partial Trisomy
Partial Trisomy 		0.010 AlteredExpression disease BEFREE There was partial trisomy 21q2109----qter in these two patients but ZnCu SOD activity was normal. 2947534 1986