FGA, fibrinogen alpha chain, 2243

N. diseases: 118; N. variants: 20
Disease: Fibrinogen Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4316812
Disease: Fibrinogen Deficiency
Fibrinogen Deficiency 		0.620 GeneticVariation disease BEFREE Here we report the identification and functional analysis of a novel nonsense mutation in FGA exon 5: c.718C>T (CAG>TAG) p.Q240X (Q221X in the mature chain lacking the signal peptide), accounting for fibrinogen deficiency in six Egyptian patients. 20051841 2010
CUI: C4316812
Disease: Fibrinogen Deficiency
Fibrinogen Deficiency 		0.620 Biomarker disease BEFREE We report here the identification of 10 novel mutations, of which eight are localized in FGA, thus increasing the total number of causative mutations identified to 72 and confirming the relative importance of FGA in the molecular basis of fibrinogen deficiency. 17295221 2007
CUI: C4316812
Disease: Fibrinogen Deficiency
Fibrinogen Deficiency 		0.620 Biomarker disease CTD_human Congenital afibrinogenaemia in a newborn infant due to a novel mutation in the fibrinogen aalpha gene. 12358944 2002
CUI: C4316812
Disease: Fibrinogen Deficiency
Fibrinogen Deficiency 		0.620 Biomarker disease CTD_human Mutations in the fibrinogen aalpha gene account for the majority of cases of congenital afibrinogenemia. 10891444 2000
CUI: C4316812
Disease: Fibrinogen Deficiency
Fibrinogen Deficiency 		0.620 Biomarker disease CTD_human The 11 kb FGA deletion responsible for congenital afibrinogenaemia is mediated by a short direct repeat in the fibrinogen gene cluster. 10602365 1999
CUI: C4316812
Disease: Fibrinogen Deficiency
Fibrinogen Deficiency 		0.620 Biomarker disease CTD_human Fibrinogen Marburg: a homozygous case of dysfibrinogenemia, lacking amino acids A alpha 461-610 (Lys 461 AAA-->stop TAA). 1391954 1992
CUI: C4316812
Disease: Fibrinogen Deficiency
Fibrinogen Deficiency 		0.620 Biomarker disease HPO
CUI: C4316812
Disease: Fibrinogen Deficiency
Fibrinogen Deficiency 		0.620 Biomarker disease GENOMICS_ENGLAND