Disease: Deficiency of factor V [labile] ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2873785
Disease: Deficiency of factor V [labile]
Deficiency of factor V [labile] 		0.020 Biomarker disease BEFREE The combined deficiency of factor V and FVIII, commonly known as F5F8D, is a recessive disorder not attributable to the association of isolated factor V and FVIII deficiencies, but rather to defective intracellular processing of both proteins due to mutations involving the LMAN1 and MCFD2 genes, which encode two proteins forming an essential cargo receptor complex. 21245750 2011
CUI: C2873785
Disease: Deficiency of factor V [labile]
Deficiency of factor V [labile] 		0.020 GeneticVariation disease BEFREE Mutations in the MCFD2 gene and a novel mutation in the LMAN1 gene in Indian families with combined deficiency of factor V and VIII. 16044454 2005