NOTCH3, notch receptor 3, 4854

N. diseases: 418; N. variants: 71
Disease: Hyperactive behavior ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.010 GeneticVariation phenotype BEFREE Biochemical analysis suggests that the mutation renders NOTCH3 hyperactive through destabilization of the heterodimer. 18273901 2008