Disease: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3150889
Disease: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 		0.700 GeneticVariation disease UNIPROT Molecular analysis in two Tunisian families with combined factor V and factor VIII deficiency. 20491958 2010
CUI: C3150889
Disease: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 		0.700 GeneticVariation disease UNIPROT 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
CUI: C3150889
Disease: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 		0.700 GeneticVariation disease UNIPROT New insights into multiple coagulation factor deficiency from the solution structure of human MCFD2. 18590741 2008
CUI: C3150889
Disease: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 		0.700 Biomarker disease GENOMICS_ENGLAND Combined deficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2. 16304051 2006
CUI: C3150889
Disease: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 		0.700 GeneticVariation disease UNIPROT Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex. 12717434 2003
CUI: C3150889
Disease: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 		0.700 Biomarker disease CTD_human
CUI: C3150889
Disease: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 		0.700 CausalMutation disease CLINVAR