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
CUI: C4551981
Disease: Familial Multiple Coagulation Factor Deficiency I
Familial Multiple Coagulation Factor Deficiency I 		0.400 GeneticVariation disease CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
CUI: C4551981
Disease: Familial Multiple Coagulation Factor Deficiency I
Familial Multiple Coagulation Factor Deficiency I 		0.400 Biomarker disease GENOMICS_ENGLAND Combined deficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2. 16304051 2006
CUI: C1856883
Disease: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF 		0.380 Biomarker disease BEFREE On the contrary, thrombin generation in F5F8D platelet-rich plasma (PRP) was significantly lower than in normal controls (P < .05); however, it was fully corrected by normalizing FVIII or after 1-deamino-8-d-arginine vasopressin (DDAVP) infusion, indicating that the hypocoagulable state of F5F8D patients is associated with low FVIII levels. 31558466 2019
CUI: C1856883
Disease: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF 		0.380 GeneticVariation disease BEFREE We used PCI to treat the coronary artery disease in a patient with the combined deficiency of factor V and factor VIII (F5F8D) and analysed the molecular basis of the disorder for this patient. 23557496 2013
CUI: C1856883
Disease: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF 		0.380 Biomarker disease BEFREE Crystal structure of the LMAN1-CRD/MCFD2 transport receptor complex provides insight into combined deficiency of factor V and factor VIII. 20138881 2010
CUI: C1856883
Disease: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF 		0.380 GeneticVariation disease BEFREE Measurement of platelet factor V (FV) levels in 7 F5F8D patients (4 with LMAN1 and 3 with MCFD2 mutations) demonstrated similar reductions to those observed for plasma FV. 18391077 2008
CUI: C1856883
Disease: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF 		0.380 AlteredExpression disease BEFREE Surface plasmon resonance experiments demonstrated that MCFD2 specifically bound to sERGIC-53 and 2 MCFD2 mutants found in F5F8D patients had a K(a) that was 3 or 4 orders of magnitude lower for sERGIC-53 than for wild-type MCFD2. 18056485 2008
CUI: C1856883
Disease: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF 		0.380 GeneticVariation disease BEFREE Here, we studied a F5F8D patient who was found to be a compound heterozygote for 2 novel mutations in MCFD2: a large deletion of 8.4 kb eliminating the 5'UTR of the gene and a nonsense mutation resulting in the deletion of only 3 amino acids (DeltaSLQ) from the C-terminus of MCFD2. 17971482 2008
CUI: C1856883
Disease: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF 		0.380 GermlineCausalMutation disease ORPHANET Combined deficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2. 16304051 2006
CUI: C1856883
Disease: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF 		0.380 GeneticVariation disease BEFREE Mutations in LMAN1 (ERGIC-53) or MCFD2 cause combined deficiency of factor V and factor VIII (F5F8D). 16304051 2006
CUI: C1856883
Disease: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF 		0.380 GermlineCausalMutation disease ORPHANET Mutations in LMAN1 (also called ERGIC-53) result in combined deficiency of factor V and factor VIII (F5F8D), an autosomal recessive bleeding disorder characterized by coordinate reduction of both clotting proteins. 12717434 2003
CUI: C1856883
Disease: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF 		0.380 GeneticVariation disease BEFREE Mutations in LMAN1 (also called ERGIC-53) result in combined deficiency of factor V and factor VIII (F5F8D), an autosomal recessive bleeding disorder characterized by coordinate reduction of both clotting proteins. 12717434 2003
CUI: C0007787
Disease: Transient Ischemic Attack
Transient Ischemic Attack 		0.200 Biomarker disease RGD Mutations in the MCFD2 gene are predominant among patients with hereditary combined FV and FVIII deficiency (F5F8D) in India. 17610559 2007
CUI: C0014591
Disease: Epistaxis
Epistaxis 		0.100 Biomarker phenotype HPO
CUI: C0025323
Disease: Menorrhagia
Menorrhagia 		0.100 Biomarker phenotype HPO
CUI: C1844374
Disease: Persistent bleeding after trauma
Persistent bleeding after trauma 		0.100 Biomarker phenotype HPO
CUI: C4025649
Disease: Reduced factor VIII activity
Reduced factor VIII activity 		0.100 Biomarker phenotype HPO
CUI: C4317320
Disease: Factor V deficiency
Factor V deficiency 		0.100 Biomarker disease HPO