F13A1, coagulation factor XIII A chain, 2162

N. diseases: 117; N. variants: 72
Disease: Factor Xiii, A Subunit, Deficiency Of ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2750514
Disease: Factor Xiii, A Subunit, Deficiency Of
Factor Xiii, A Subunit, Deficiency Of 		0.700 CausalMutation disease CLINVAR Comparison of F13A1 gene mutations in 73 patients treated with recombinant FXIII-A2. 28520207 2017
CUI: C2750514
Disease: Factor Xiii, A Subunit, Deficiency Of
Factor Xiii, A Subunit, Deficiency Of 		0.700 GeneticVariation disease UNIPROT Coagulation Factor XIIIA Subunit Missense Mutations Affect Structure and Function at the Various Steps of Factor XIII Action. 27363989 2016
CUI: C2750514
Disease: Factor Xiii, A Subunit, Deficiency Of
Factor Xiii, A Subunit, Deficiency Of 		0.700 GeneticVariation disease UNIPROT Congenital factor XIII deficiency in Pakistan: characterization of seven families and identification of four novel mutations. 24329762 2014
CUI: C2750514
Disease: Factor Xiii, A Subunit, Deficiency Of
Factor Xiii, A Subunit, Deficiency Of 		0.700 CausalMutation disease CLINVAR Factor XIII deficiency: complete phenotypic characterization of two cases with novel causative mutations. 24118344 2014
CUI: C2750514
Disease: Factor Xiii, A Subunit, Deficiency Of
Factor Xiii, A Subunit, Deficiency Of 		0.700 GeneticVariation disease UNIPROT Eight novel F13A1 gene missense mutations in patients with mild FXIII deficiency: in silico analysis suggests changes in FXIII-A subunit structure/function. 24889649 2014
CUI: C2750514
Disease: Factor Xiii, A Subunit, Deficiency Of
Factor Xiii, A Subunit, Deficiency Of 		0.700 GeneticVariation disease UNIPROT Severe congenital factor XIII deficiency caused by novel W187X and G273V mutations in the F13A gene; diagnosis and classification according to the ISTH/SSC guidelines. 24286209 2014
CUI: C2750514
Disease: Factor Xiii, A Subunit, Deficiency Of
Factor Xiii, A Subunit, Deficiency Of 		0.700 GeneticVariation disease UNIPROT Identification of eight novel coagulation factor XIII subunit A mutations: implied consequences for structure and function. 20179087 2010
CUI: C2750514
Disease: Factor Xiii, A Subunit, Deficiency Of
Factor Xiii, A Subunit, Deficiency Of 		0.700 CausalMutation disease CLINVAR Two novel and one recurrent missense mutation in the factor XIII A gene in two Dutch patients with factor XIII deficiency. 11167856 2001
CUI: C2750514
Disease: Factor Xiii, A Subunit, Deficiency Of
Factor Xiii, A Subunit, Deficiency Of 		0.700 CausalMutation disease CLINVAR Four novel mutations in deficiency of coagulation factor XIII: consequences to expression and structure of the A-subunit. 8547636 1996
CUI: C2750514
Disease: Factor Xiii, A Subunit, Deficiency Of
Factor Xiii, A Subunit, Deficiency Of 		0.700 Biomarker disease GENOMICS_ENGLAND Molecular basis of inherited factor XIII deficiency: identification of multiple mutations provides insights into protein function. 8555083 1995
CUI: C2750514
Disease: Factor Xiii, A Subunit, Deficiency Of
Factor Xiii, A Subunit, Deficiency Of 		0.700 GeneticVariation disease UNIPROT Identification of a point mutation in factor XIII A subunit deficiency. 1353995 1992
CUI: C2750514
Disease: Factor Xiii, A Subunit, Deficiency Of
Factor Xiii, A Subunit, Deficiency Of 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C2750514
Disease: Factor Xiii, A Subunit, Deficiency Of
Factor Xiii, A Subunit, Deficiency Of 		0.700 Biomarker disease CTD_human
CUI: C2750514
Disease: Factor Xiii, A Subunit, Deficiency Of
Factor Xiii, A Subunit, Deficiency Of 		0.700 GeneticVariation disease CLINVAR