F13A1, coagulation factor XIII A chain, 2162

N. diseases: 9; N. variants: 67
Source: CURATED ×
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 GermlineCausalMutation disease ORPHANET Novel aspects of factor XIII deficiency. 21738029 2011
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 Biomarker disease GENOMICS_ENGLAND
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 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 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: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.410 Biomarker disease CTD_human Factor XIII Val34Leu is a genetic factor involved in the etiology of venous thrombosis. 10365735 1999
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.380 Biomarker disease CTD_human Factor XIII Val34Leu variant and the risk of myocardial infarction: a meta-analysis. 17393027 2007
CUI: C0042487
Disease: Venous Thrombosis
Venous Thrombosis 		0.320 Biomarker phenotype CTD_human Factor XIII Val34Leu is a genetic factor involved in the etiology of venous thrombosis. 10365735 1999
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		0.310 Biomarker disease CTD_human
CUI: C0162820
Disease: Dermatitis, Allergic Contact
Dermatitis, Allergic Contact 		0.300 Biomarker disease CTD_human Microarray analyses in dendritic cells reveal potential biomarkers for chemical-induced skin sensitization. 17374397 2007
CUI: C1832662
Disease: MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO
MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO 		0.300 Biomarker phenotype GENOMICS_ENGLAND
CUI: C3160733
Disease: THROMBOPHILIA DUE TO THROMBIN DEFECT
THROMBOPHILIA DUE TO THROMBIN DEFECT 		0.300 Biomarker phenotype GENOMICS_ENGLAND