Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C0026848
Disease: Myopathy
Myopathy
0.130 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

Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C0026848
Disease: Myopathy
Myopathy
0.130 CausalMutation CLINVAR New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis. 15596759

2004