FGA, fibrinogen alpha chain, 2243

N. diseases: 118; N. variants: 20
Disease: Congenital hypofibrinogenemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2584774
Disease: Congenital hypofibrinogenemia
Congenital hypofibrinogenemia 		0.790 GeneticVariation disease BEFREE A Novel Frameshift Mutation in the FGA Gene (c.196 delT) Leading to Congenital Afibrinogenemia. 31725541 2020
CUI: C2584774
Disease: Congenital hypofibrinogenemia
Congenital hypofibrinogenemia 		0.790 Biomarker disease GENOMICS_ENGLAND Clinical and molecular characterisation of 21 patients affected by quantitative fibrinogen deficiency. 25427968 2015
CUI: C2584774
Disease: Congenital hypofibrinogenemia
Congenital hypofibrinogenemia 		0.790 GeneticVariation disease UNIPROT Clinical and molecular characterisation of 21 patients affected by quantitative fibrinogen deficiency. 25427968 2015
CUI: C2584774
Disease: Congenital hypofibrinogenemia
Congenital hypofibrinogenemia 		0.790 GeneticVariation disease BEFREE Mutation of the translation initiation codon in FGA causes congenital afibrinogenemia. 22732251 2012
CUI: C2584774
Disease: Congenital hypofibrinogenemia
Congenital hypofibrinogenemia 		0.790 GeneticVariation disease BEFREE Most reported mutations leading to congenital afibrinogenemia are located in FGA encoding the fibrinogen A α-chain. 21245743 2011
CUI: C2584774
Disease: Congenital hypofibrinogenemia
Congenital hypofibrinogenemia 		0.790 GeneticVariation disease BEFREE Identification and functional characterization of a novel nonsense mutation in FGA accounting for congenital afibrinogenemia in six Egyptian patients. 20051841 2010
CUI: C2584774
Disease: Congenital hypofibrinogenemia
Congenital hypofibrinogenemia 		0.790 GeneticVariation disease BEFREE Extensive allelic heterogeneity has been found for all these disorders: in congenital afibrinogenaemia for example more than 40 mutations, the majority in FGA , have been identified in homozygosity or in compound heterozygosity. 20806111 2010
CUI: C2584774
Disease: Congenital hypofibrinogenemia
Congenital hypofibrinogenemia 		0.790 GermlineCausalMutation disease ORPHANET Congenital hypofibrinogenemia: characterization of two missense mutations affecting fibrinogen assembly and secretion. 18676163 2008
CUI: C2584774
Disease: Congenital hypofibrinogenemia
Congenital hypofibrinogenemia 		0.790 GermlineCausalMutation disease ORPHANET Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and report of 10 novel mutations. 17295221 2007
CUI: C2584774
Disease: Congenital hypofibrinogenemia
Congenital hypofibrinogenemia 		0.790 GeneticVariation disease BEFREE Identification of three FGA mutations in two Chinese families with congenital afibrinogenaemia. 17083511 2006
CUI: C2584774
Disease: Congenital hypofibrinogenemia
Congenital hypofibrinogenemia 		0.790 GeneticVariation disease BEFREE The g.3108C --> T (Gln150 --> stop) nonsense mutation in the FGA gene is a novel genetic defect of congenital afibrinogenaemia that, to our knowledge, has not been described previously. 15795544 2005
CUI: C2584774
Disease: Congenital hypofibrinogenemia
Congenital hypofibrinogenemia 		0.790 Biomarker disease CTD_human Congenital afibrinogenaemia in a newborn infant due to a novel mutation in the fibrinogen aalpha gene. 12358944 2002
CUI: C2584774
Disease: Congenital hypofibrinogenemia
Congenital hypofibrinogenemia 		0.790 Biomarker disease BEFREE In a subsequent study of 13 unrelated patients with congenital afibrinogenemia we analyzed the FGA gene in order to identify the causative mutations, and to determine the prevalence of the 11-kb FGA deletion. 11460507 2001
CUI: C2584774
Disease: Congenital hypofibrinogenemia
Congenital hypofibrinogenemia 		0.790 GermlineCausalMutation disease ORPHANET In a subsequent study of 13 unrelated patients with congenital afibrinogenemia we analyzed the FGA gene in order to identify the causative mutations, and to determine the prevalence of the 11-kb FGA deletion. 11460507 2001
CUI: C2584774
Disease: Congenital hypofibrinogenemia
Congenital hypofibrinogenemia 		0.790 Biomarker disease CTD_human Mutations in the fibrinogen aalpha gene account for the majority of cases of congenital afibrinogenemia. 10891444 2000
CUI: C2584774
Disease: Congenital hypofibrinogenemia
Congenital hypofibrinogenemia 		0.790 GeneticVariation disease BEFREE The 11 kb FGA deletion responsible for congenital afibrinogenaemia is mediated by a short direct repeat in the fibrinogen gene cluster. 10602365 1999
CUI: C2584774
Disease: Congenital hypofibrinogenemia
Congenital hypofibrinogenemia 		0.790 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: C2584774
Disease: Congenital hypofibrinogenemia
Congenital hypofibrinogenemia 		0.790 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: C2584774
Disease: Congenital hypofibrinogenemia
Congenital hypofibrinogenemia 		0.790 CausalMutation disease CLINVAR