Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Ventricular Septal Defects
CUI: C0018818
Disease: Ventricular Septal Defects
0.700 CausalMutation CLINVAR [The construction and preliminary investigation of the cell model of a novel mutation R675Q in the SCN4A gene identified in a Chinese family with normokalemic periodic paralysis]. 19065518 2008
Ventricular Septal Defects
CUI: C0018818
Disease: Ventricular Septal Defects
0.700 CausalMutation CLINVAR New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis. 15596759 2004