Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.020 GeneticVariation disease BEFREE The mouse model developed here will be useful for drug screening for familial episodic pain syndrome associated with SCN11A mutations. 27224030 2016
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.020 GeneticVariation disease BEFREE We identified a missense mutation of p.Arg225Cys in SCN11A in a four-generation Chinese family with early-onset familial episodic pain and adult onset familial essential tremor syndrome. 28298626 2017