F10, coagulation factor X, 2159

N. diseases: 228; N. variants: 44
Disease: Factor X Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015519
Disease: Factor X Deficiency
Factor X Deficiency 		0.800 Biomarker disease CLINGEN Genotype analysis and identification of novel mutations in a multicentre cohort of patients with hereditary factor X deficiency. 30507709 2019
CUI: C0015519
Disease: Factor X Deficiency
Factor X Deficiency 		0.800 Biomarker disease BEFREE Factor X-deficient mice were protected from systemic <i>Acinetobacter baumannii</i> infection, suggesting that factor X plays a role in the immune response to <i>A. baumannii</i> Factor X deficiency was associated with reduced cytokine and chemokine production and alterations in immune cell population during infection: factor X-deficient mice demonstrated increased abundance of neutrophils, macrophages, and effector T cells. 30782860 2019
CUI: C0015519
Disease: Factor X Deficiency
Factor X Deficiency 		0.800 Biomarker disease CLINGEN Genotyping of five Pakistani patients with severe inherited factor X deficiency: identification of two novel mutations. 30036279 2018
CUI: C0015519
Disease: Factor X Deficiency
Factor X Deficiency 		0.800 Biomarker disease CLINGEN High-throughput discovery of novel developmental phenotypes. 27626380 2016
CUI: C0015519
Disease: Factor X Deficiency
Factor X Deficiency 		0.800 GeneticVariation disease BEFREE This study was conducted to assess the spectrum of factor X gene mutation in Iranian patients with congenital FXD. 26891460 2016
CUI: C0015519
Disease: Factor X Deficiency
Factor X Deficiency 		0.800 GeneticVariation disease UNIPROT Frequency of the p.Gly262Asp mutation in congenital Factor X deficiency. 26222694 2015
CUI: C0015519
Disease: Factor X Deficiency
Factor X Deficiency 		0.800 GermlineCausalMutation disease ORPHANET Frequency of the p.Gly262Asp mutation in congenital Factor X deficiency. 26222694 2015
CUI: C0015519
Disease: Factor X Deficiency
Factor X Deficiency 		0.800 GermlineCausalMutation disease ORPHANET A novel factor X gene mutation Val (GTC) 384Ala (GCC) in a Chinese family resulting in congenital factor X deficiency. 26309706 2015
CUI: C0015519
Disease: Factor X Deficiency
Factor X Deficiency 		0.800 GeneticVariation disease UNIPROT Molecular dynamics characterization of five pathogenic Factor X mutants associated with decreased catalytic activity. 25313940 2014
CUI: C0015519
Disease: Factor X Deficiency
Factor X Deficiency 		0.800 Biomarker disease CLINGEN Molecular defects in the factor X gene caused by novel heterozygous mutations IVS5+1G>A and Asp409del. 22931370 2013
CUI: C0015519
Disease: Factor X Deficiency
Factor X Deficiency 		0.800 GeneticVariation disease UNIPROT Characterization of a homozygous Gly11Val mutation in the Gla domain of coagulation factor X. 19135706 2009
CUI: C0015519
Disease: Factor X Deficiency
Factor X Deficiency 		0.800 GeneticVariation disease BEFREE We identified a novel deletion of exon 6 and a missense mutation (c.856G>A, Val286Met) in exon 7 of the F10 gene leading to a compound heterozygous state and causing severe factor X deficiency. 19404516 2009
CUI: C0015519
Disease: Factor X Deficiency
Factor X Deficiency 		0.800 GeneticVariation disease BEFREE Factor XDebrecen: Gly204Arg mutation in factor X causes the synthesis of a non-secretable protein and severe factor X deficiency. 18245654 2008
CUI: C0015519
Disease: Factor X Deficiency
Factor X Deficiency 		0.800 Biomarker disease CLINGEN A viable mouse model of factor X deficiency provides evidence for maternal transfer of factor X. 18036190 2008
CUI: C0015519
Disease: Factor X Deficiency
Factor X Deficiency 		0.800 GeneticVariation disease LHGDN Factor XDebrecen: Gly204Arg mutation in factor X causes the synthesis of a non-secretable protein and severe factor X deficiency. 18245654 2008
CUI: C0015519
Disease: Factor X Deficiency
Factor X Deficiency 		0.800 Biomarker disease BEFREE A viable mouse model of factor X deficiency provides evidence for maternal transfer of factor X. 18036190 2008
CUI: C0015519
Disease: Factor X Deficiency
Factor X Deficiency 		0.800 GeneticVariation disease LHGDN Phenotype and genotype report on homozygous and heterozygous patients with congenital factor X deficiency. 18403394 2008
CUI: C0015519
Disease: Factor X Deficiency
Factor X Deficiency 		0.800 GeneticVariation disease UNIPROT Analysis of the novel factor X gene mutation Glu51Lys in two families with factor X-Riyadh anomaly. 17393015 2007
CUI: C0015519
Disease: Factor X Deficiency
Factor X Deficiency 		0.800 Biomarker disease BEFREE Stuart Prower factor (Factor X) deficiency is a rare hereditary autosomal recessive coagulation disorder. 16424563 2005
CUI: C0015519
Disease: Factor X Deficiency
Factor X Deficiency 		0.800 GeneticVariation disease UNIPROT Genetic analysis of hereditary factor X deficiency in a French patient of Sri Lankan ancestry: in vitro expression study identified Gly366Ser substitution as the molecular basis of the dysfunctional factor X. 15650540 2005
CUI: C0015519
Disease: Factor X Deficiency
Factor X Deficiency 		0.800 GermlineCausalMutation disease ORPHANET Six novel mutations including triple heterozygosity for Phe31Ser, 514delT and 516T-->G factor X gene mutations are responsible for congenital factor X deficiency in patients of Nepali and Indian origin. 15892863 2005
CUI: C0015519
Disease: Factor X Deficiency
Factor X Deficiency 		0.800 GeneticVariation disease BEFREE Six novel mutations including triple heterozygosity for Phe31Ser, 514delT and 516T-->G factor X gene mutations are responsible for congenital factor X deficiency in patients of Nepali and Indian origin. 15892863 2005
CUI: C0015519
Disease: Factor X Deficiency
Factor X Deficiency 		0.800 AlteredExpression disease BEFREE Molecular characterization of factor X deficiency associated with borderline plasma factor X level. 15075089 2004
CUI: C0015519
Disease: Factor X Deficiency
Factor X Deficiency 		0.800 GeneticVariation disease UNIPROT Molecular characterization of factor X deficiency associated with borderline plasma factor X level. 15075089 2004
CUI: C0015519
Disease: Factor X Deficiency
Factor X Deficiency 		0.800 GeneticVariation disease BEFREE Two novel factor X gene mutations in a Chinese family with factor X deficiency. 15060750 2004