F13B, coagulation factor XIII B chain, 2165

N. diseases: 47; N. variants: 23
Disease: Factor XIII, B Subunit, Deficiency Of ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2750481
Disease: Factor XIII, B Subunit, Deficiency Of
Factor XIII, B Subunit, Deficiency Of 		0.700 GeneticVariation disease UNIPROT Structural and functional influences of coagulation factor XIII subunit B heterozygous missense mutants. 26247044 2015
CUI: C2750481
Disease: Factor XIII, B Subunit, Deficiency Of
Factor XIII, B Subunit, Deficiency Of 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations affecting disulphide bonds contribute to a fairly common prevalence of F13B gene defects: results of a genetic study in 14 families with factor XIII B deficiency. 20331752 2010
CUI: C2750481
Disease: Factor XIII, B Subunit, Deficiency Of
Factor XIII, B Subunit, Deficiency Of 		0.700 GeneticVariation disease UNIPROT Mutations affecting disulphide bonds contribute to a fairly common prevalence of F13B gene defects: results of a genetic study in 14 families with factor XIII B deficiency. 20331752 2010
CUI: C2750481
Disease: Factor XIII, B Subunit, Deficiency Of
Factor XIII, B Subunit, Deficiency Of 		0.700 GeneticVariation disease UNIPROT Truncated mutant B subunit for factor XIII causes its deficiency due to impaired intracellular transportation. 11313256 2001
CUI: C2750481
Disease: Factor XIII, B Subunit, Deficiency Of
Factor XIII, B Subunit, Deficiency Of 		0.700 GeneticVariation disease UNIPROT Two genetic defects in a patient with complete deficiency of the b-subunit for coagulation factor XIII. 8324218 1993
CUI: C2750481
Disease: Factor XIII, B Subunit, Deficiency Of
Factor XIII, B Subunit, Deficiency Of 		0.700 CausalMutation disease CLINVAR
CUI: C2750481
Disease: Factor XIII, B Subunit, Deficiency Of
Factor XIII, B Subunit, Deficiency Of 		0.700 Biomarker disease CTD_human