F13A1, coagulation factor XIII A chain, 2162

N. diseases: 117; N. variants: 72
Disease: Hereditary Factor XIII Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015530
Disease: Hereditary Factor XIII Deficiency
Hereditary Factor XIII Deficiency 		0.980 GeneticVariation disease BEFREE Identification of novel pathogenic F13A1 mutation and novel NBEAL2 gene missense mutation in a pedigree with hereditary congenital factor XIII deficiency. 30935919 2019
CUI: C0015530
Disease: Hereditary Factor XIII Deficiency
Hereditary Factor XIII Deficiency 		0.980 GeneticVariation disease BEFREE We detected two type I FXIIID pedigrees and adopted CNVplex® method to detect CNVs of F13A1 and F13B for the first time. 31340840 2019
CUI: C0015530
Disease: Hereditary Factor XIII Deficiency
Hereditary Factor XIII Deficiency 		0.980 GeneticVariation disease BEFREE Novel and recurrent mutations in the F13A1 gene in unrelated Korean patients with congenital factor XIII deficiency. 25004025 2015
CUI: C0015530
Disease: Hereditary Factor XIII Deficiency
Hereditary Factor XIII Deficiency 		0.980 GermlineCausalMutation disease ORPHANET Novel aspects of factor XIII deficiency. 21738029 2011
CUI: C0015530
Disease: Hereditary Factor XIII Deficiency
Hereditary Factor XIII Deficiency 		0.980 GeneticVariation disease BEFREE All individuals except one were heterozygous for factor XIIIA mutations (average factor XIII activity 51%), while the remaining homozygous individual was found to have severe factor XIII deficiency (<5% of normal factor XIII activity). 20179087 2010
CUI: C0015530
Disease: Hereditary Factor XIII Deficiency
Hereditary Factor XIII Deficiency 		0.980 GeneticVariation disease BEFREE We report a novel mutation in factor XIIIA gene that caused severe congenital factor XIII deficiency in a 6 year and 8 month old male. 16456856 2008
CUI: C0015530
Disease: Hereditary Factor XIII Deficiency
Hereditary Factor XIII Deficiency 		0.980 GeneticVariation disease LHGDN We report a novel mutation in factor XIIIA gene that caused severe congenital factor XIII deficiency in a 6 year and 8 month old male. 16456856 2008
CUI: C0015530
Disease: Hereditary Factor XIII Deficiency
Hereditary Factor XIII Deficiency 		0.980 Biomarker disease MGD Factor XIII deficiency causes cardiac rupture, impairs wound healing, and aggravates cardiac remodeling in mice with myocardial infarction. 16505171 2006
CUI: C0015530
Disease: Hereditary Factor XIII Deficiency
Hereditary Factor XIII Deficiency 		0.980 Biomarker disease MGD Does FXIII deficiency impair wound healing after myocardial infarction? 17183677 2006
CUI: C0015530
Disease: Hereditary Factor XIII Deficiency
Hereditary Factor XIII Deficiency 		0.980 GeneticVariation disease BEFREE Today, more than 60 mutations in the factor XIIIA- and B-subunit genes are known leading to congenital factor XIII deficiency. 16543965 2006
CUI: C0015530
Disease: Hereditary Factor XIII Deficiency
Hereditary Factor XIII Deficiency 		0.980 GeneticVariation disease LHGDN Factor XIII deficiency: new nonsense and deletion mutations in the human factor XIIIA gene. 16330458 2005
CUI: C0015530
Disease: Hereditary Factor XIII Deficiency
Hereditary Factor XIII Deficiency 		0.980 GeneticVariation disease BEFREE Factor XIII deficiency: new nonsense and deletion mutations in the human factor XIIIA gene. 16330458 2005
CUI: C0015530
Disease: Hereditary Factor XIII Deficiency
Hereditary Factor XIII Deficiency 		0.980 GeneticVariation disease BEFREE We report two novel mutations in factor XIIIA (FXIIIA) gene that caused congenital factor XIII deficiency in two unrelated patients. 12801297 2003
CUI: C0015530
Disease: Hereditary Factor XIII Deficiency
Hereditary Factor XIII Deficiency 		0.980 Biomarker disease MGD Factor XIII A subunit-deficient mice developed severe uterine bleeding events and subsequent spontaneous miscarriages. 12933578 2003
CUI: C0015530
Disease: Hereditary Factor XIII Deficiency
Hereditary Factor XIII Deficiency 		0.980 Biomarker disease MGD Targeted inactivation of the mouse locus encoding coagulation factor XIII-A: hemostatic abnormalities in mutant mice and characterization of the coagulation deficit. 12529747 2002
CUI: C0015530
Disease: Hereditary Factor XIII Deficiency
Hereditary Factor XIII Deficiency 		0.980 Biomarker disease CTD_human Deficiency of coagulation factor XIII A subunit caused by the dinucleotide deletion at the 5' end of exon III. 1644910 1992
CUI: C0015530
Disease: Hereditary Factor XIII Deficiency
Hereditary Factor XIII Deficiency 		0.980 CausalMutation disease CLINVAR
CUI: C0015530
Disease: Hereditary Factor XIII Deficiency
Hereditary Factor XIII Deficiency 		0.980 Biomarker disease GENOMICS_ENGLAND