SPART, spartin, 23111

N. diseases: 110; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.110 AlteredExpression disease BEFREE Maximal expression of SPG20 in the limb buds and forebrain during embryogenesis may explain the developmental origin of the skeletal and cognitive defects observed in this disorder. 20437587 2010
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.110 Biomarker disease HPO