Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3494187
Disease: Factor VIII Deficiency
Factor VIII Deficiency
0.010 GeneticVariation disease BEFREE The first case of combined coagulation factor V and coagulation factor VIII deficiency in Poland due to a novel p.Tyr135Asn missense mutation in the MCFD2 gene. 18685427 2008