Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0239234
Disease: Low set ears
Low set ears
0.100 CausalMutation disease 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
CUI: C0239234
Disease: Low set ears
Low set ears
0.100 CausalMutation disease CLINVAR New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis. 15596759 2004