Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Coagulation factor deficiency syndrome
0.030 Biomarker group BEFREE Congenital dyserythropoietic anemia type II (CDAII) and combined deficiency of coagulation factors V and VIII (F5F8D) are the 2 known hematologic diseases that result from defects in the endoplasmic reticulum (ER)-to-Golgi transport system. 22586181 2012
Coagulation factor deficiency syndrome
0.030 GeneticVariation group BEFREE Analysis of newly detected mutations in the MCFD2 gene giving rise to combined deficiency of coagulation factors V and VIII. 21492322 2011
Coagulation factor deficiency syndrome
0.030 Biomarker group BEFREE Combined deficiency of factor (F)V and FVIII (F5F8D) and combined deficiency of vitamin K-dependent clotting factors (VKCFD) comprise the vast majority of reported cases of familial multiple coagulation factor deficiencies. 15333032 2004