F10, coagulation factor X, 2159

N. diseases: 228; N. variants: 44
Disease: Hereditary factor X deficiency disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0272327
Disease: Hereditary factor X deficiency disease
Hereditary factor X deficiency disease 		0.360 GeneticVariation disease BEFREE : The objective was to examine the genotypic and phenotypic characteristics of individuals with hereditary factor X deficiency (FXD), a rare autosomal recessive bleeding disorder caused by mutations in the F10 gene located on chromosome 13q34-ter. 30507709 2019
CUI: C0272327
Disease: Hereditary factor X deficiency disease
Hereditary factor X deficiency disease 		0.360 Biomarker disease CLINGEN : The objective was to examine the genotypic and phenotypic characteristics of individuals with hereditary factor X deficiency (FXD), a rare autosomal recessive bleeding disorder caused by mutations in the F10 gene located on chromosome 13q34-ter. 30507709 2019
CUI: C0272327
Disease: Hereditary factor X deficiency disease
Hereditary factor X deficiency disease 		0.360 Biomarker disease CLINGEN Genotyping of five Pakistani patients with severe inherited factor X deficiency: identification of two novel mutations. 30036279 2018
CUI: C0272327
Disease: Hereditary factor X deficiency disease
Hereditary factor X deficiency disease 		0.360 Biomarker disease BEFREE Hereditary factor X (FX) deficiency (FXD) affects 1:500 000-1:1 000 000 people worldwide. 29707881 2018
CUI: C0272327
Disease: Hereditary factor X deficiency disease
Hereditary factor X deficiency disease 		0.360 Biomarker disease BEFREE Efficacy, safety and pharmacokinetics of a new high-purity factor X concentrate in women and girls with hereditary factor X deficiency. 29460388 2018
CUI: C0272327
Disease: Hereditary factor X deficiency disease
Hereditary factor X deficiency disease 		0.360 Biomarker disease CLINGEN High-throughput discovery of novel developmental phenotypes. 27626380 2016
CUI: C0272327
Disease: Hereditary factor X deficiency disease
Hereditary factor X deficiency disease 		0.360 Biomarker disease CLINGEN Molecular defects in the factor X gene caused by novel heterozygous mutations IVS5+1G>A and Asp409del. 22931370 2013
CUI: C0272327
Disease: Hereditary factor X deficiency disease
Hereditary factor X deficiency disease 		0.360 Biomarker disease CLINGEN A viable mouse model of factor X deficiency provides evidence for maternal transfer of factor X. 18036190 2008
CUI: C0272327
Disease: Hereditary factor X deficiency disease
Hereditary factor X deficiency disease 		0.360 GeneticVariation disease BEFREE 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: C0272327
Disease: Hereditary factor X deficiency disease
Hereditary factor X deficiency disease 		0.360 Biomarker disease CLINGEN Blood coagulation factor X deficiency causes partial embryonic lethality and fatal neonatal bleeding in mice. 10739370 2000
CUI: C0272327
Disease: Hereditary factor X deficiency disease
Hereditary factor X deficiency disease 		0.360 Biomarker disease CLINGEN Molecular analysis of the genotype-phenotype relationship in factor X deficiency. 10746568 2000
CUI: C0272327
Disease: Hereditary factor X deficiency disease
Hereditary factor X deficiency disease 		0.360 GeneticVariation disease BEFREE A family with hereditary factor X deficiency with a point mutation Gla32 to Gln in the Gla domain (factor X Tokyo). 10468877 1999
CUI: C0272327
Disease: Hereditary factor X deficiency disease
Hereditary factor X deficiency disease 		0.360 Biomarker disease CLINGEN Factor XSanto Domingo. Evidence that the severe clinical phenotype arises from a mutation blocking secretion. 1939653 1991
CUI: C0272327
Disease: Hereditary factor X deficiency disease
Hereditary factor X deficiency disease 		0.360 Biomarker disease CLINGEN Molecular defect in coagulation factor XFriuli results from a substitution of serine for proline at position 343. 1985698 1991
CUI: C0272327
Disease: Hereditary factor X deficiency disease
Hereditary factor X deficiency disease 		0.360 GeneticVariation disease BEFREE Molecular defect (Gla+14----Lys) and its functional consequences in a hereditary factor X deficiency (factor X "Vorarlberg"). 1973167 1990
CUI: C0272327
Disease: Hereditary factor X deficiency disease
Hereditary factor X deficiency disease 		0.360 Biomarker disease CLINGEN Molecular characterization of human factor XSan Antonio. 2790181 1989
CUI: C0272327
Disease: Hereditary factor X deficiency disease
Hereditary factor X deficiency disease 		0.360 Biomarker disease CLINGEN The molecular basis of blood coagulation. 3286010 1988