F13A1, coagulation factor XIII A chain, 2162

N. diseases: 117; N. variants: 72
Disease: Factor XIII deficiency disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4316906
Disease: Factor XIII deficiency disease
Factor XIII deficiency disease 		0.030 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: C4316906
Disease: Factor XIII deficiency disease
Factor XIII deficiency disease 		0.030 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: C4316906
Disease: Factor XIII deficiency disease
Factor XIII deficiency disease 		0.030 GeneticVariation disease BEFREE Factor XIII deficiency: new nonsense and deletion mutations in the human factor XIIIA gene. 16330458 2005