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 CTD_human
CUI: C0015519
Disease: Factor X Deficiency
Factor X Deficiency 		0.800 CausalMutation disease CLINVAR
CUI: C0015519
Disease: Factor X Deficiency
Factor X Deficiency 		0.800 Biomarker disease BEFREE Immunological assay of factor X (radioimmunoassay) showed 0.47 microgram/ml in the second case and 0.15 microgram/ml in the third case, from which our cases were considered to be classical factor X deficiency. 7233424 1981
CUI: C0015519
Disease: Factor X Deficiency
Factor X Deficiency 		0.800 AlteredExpression disease BEFREE The most common group of factor X deficiency was associated with abnormal activation of factor X by all three pathways. 3970856 1985
CUI: C0015519
Disease: Factor X Deficiency
Factor X Deficiency 		0.800 Biomarker disease CLINGEN The molecular basis of blood coagulation. 3286010 1988
CUI: C0015519
Disease: Factor X Deficiency
Factor X Deficiency 		0.800 GeneticVariation disease UNIPROT Enzymatic amplification technique was used to isolate all eight exons and sequences around the splice junctions, putative promoter, and polyadenylation sites of human factor X DNA from a patient with factor X deficiency. 2790181 1989
CUI: C0015519
Disease: Factor X Deficiency
Factor X Deficiency 		0.800 Biomarker disease CLINGEN Enzymatic amplification technique was used to isolate all eight exons and sequences around the splice junctions, putative promoter, and polyadenylation sites of human factor X DNA from a patient with factor X deficiency. 2790181 1989
CUI: C0015519
Disease: Factor X Deficiency
Factor X Deficiency 		0.800 GeneticVariation disease BEFREE Enzymatic amplification technique was used to isolate all eight exons and sequences around the splice junctions, putative promoter, and polyadenylation sites of human factor X DNA from a patient with factor X deficiency. 2790181 1989
CUI: C0015519
Disease: Factor X Deficiency
Factor X Deficiency 		0.800 GeneticVariation disease UNIPROT "Molecular defect (Gla+14----Lys) and its functional consequences in a hereditary factor X deficiency (factor X ""Vorarlberg"")." 1973167 1990
CUI: C0015519
Disease: Factor X Deficiency
Factor X Deficiency 		0.800 Biomarker disease CLINGEN Molecular defect in coagulation factor XFriuli results from a substitution of serine for proline at position 343. 1985698 1991
CUI: C0015519
Disease: Factor X Deficiency
Factor X Deficiency 		0.800 GeneticVariation disease UNIPROT Molecular defect in coagulation factor XFriuli results from a substitution of serine for proline at position 343. 1985698 1991
CUI: C0015519
Disease: Factor X Deficiency
Factor X Deficiency 		0.800 Biomarker disease CLINGEN Factor XSanto Domingo. Evidence that the severe clinical phenotype arises from a mutation blocking secretion. 1939653 1991
CUI: C0015519
Disease: Factor X Deficiency
Factor X Deficiency 		0.800 GeneticVariation disease UNIPROT Molecular bases of CRM+ factor X deficiency: a frequent mutation (Ser334Pro) in the catalytic domain and a substitution (Glu102Lys) in the second EGF-like domain. 7669671 1995
CUI: C0015519
Disease: Factor X Deficiency
Factor X Deficiency 		0.800 GeneticVariation disease UNIPROT Factor XKetchikan: a variant molecule in which Gly replaces a Gla residue at position 14 in the light chain. 7860069 1995
CUI: C0015519
Disease: Factor X Deficiency
Factor X Deficiency 		0.800 GeneticVariation disease UNIPROT Functional consequences of the Ser334-->Pro mutation in a human factor X variant (factor XMarseille). 8529633 1995
CUI: C0015519
Disease: Factor X Deficiency
Factor X Deficiency 		0.800 GeneticVariation disease UNIPROT Factor X Stockton: a mild bleeding diathesis associated with an active site mutation in factor X. 8845463 1996
CUI: C0015519
Disease: Factor X Deficiency
Factor X Deficiency 		0.800 GeneticVariation disease UNIPROT Factor XSt. Louis II. Identification of a glycine substitution at residue 7 and characterization of the recombinant protein. 8910490 1996
CUI: C0015519
Disease: Factor X Deficiency
Factor X Deficiency 		0.800 Biomarker disease GENOMICS_ENGLAND Inherited factor X deficiency: molecular genetics and pathophysiology. 9198147 1997
CUI: C0015519
Disease: Factor X Deficiency
Factor X Deficiency 		0.800 GeneticVariation disease BEFREE Factor X Nagoya 1 and Nagoya 2: a CRM- factor X deficiency and a dysfunctional CRM+ factor X deficiency characterized by substitution of Arg306 by Cys and of Gly366 by Ser, respectively. 9531027 1998
CUI: C0015519
Disease: Factor X Deficiency
Factor X Deficiency 		0.800 GeneticVariation disease UNIPROT A family with hereditary factor X deficiency with a point mutation Gla32 to Gln in the Gla domain (factor X Tokyo). 10468877 1999
CUI: C0015519
Disease: Factor X Deficiency
Factor X Deficiency 		0.800 GeneticVariation disease UNIPROT The impact of Glu102Lys on the factor X function in a patient with a doubly homozygous factor X deficiency (Gla14Lys and Glu102Lys). 10739379 2000
CUI: C0015519
Disease: Factor X Deficiency
Factor X Deficiency 		0.800 GeneticVariation disease UNIPROT The factor X (F10) genes of 14 unrelated individuals with factor X deficiency (12 familial and two sporadic cases) were sequenced yielding a total of 13 novel mutations. 10746568 2000
CUI: C0015519
Disease: Factor X Deficiency
Factor X Deficiency 		0.800 Biomarker disease CLINGEN The factor X (F10) genes of 14 unrelated individuals with factor X deficiency (12 familial and two sporadic cases) were sequenced yielding a total of 13 novel mutations. 10746568 2000
CUI: C0015519
Disease: Factor X Deficiency
Factor X Deficiency 		0.800 Biomarker disease CLINGEN Blood coagulation factor X deficiency causes partial embryonic lethality and fatal neonatal bleeding in mice. 10739370 2000
CUI: C0015519
Disease: Factor X Deficiency
Factor X Deficiency 		0.800 GeneticVariation disease BEFREE The factor X (F10) genes of 14 unrelated individuals with factor X deficiency (12 familial and two sporadic cases) were sequenced yielding a total of 13 novel mutations. 10746568 2000