FGG, fibrinogen gamma chain, 2266

N. diseases: 70; N. variants: 18
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2584774
Disease: Congenital hypofibrinogenemia
Congenital hypofibrinogenemia 		0.740 GeneticVariation disease UNIPROT Clinical and molecular characterisation of 21 patients affected by quantitative fibrinogen deficiency. 25427968 2015
CUI: C2584774
Disease: Congenital hypofibrinogenemia
Congenital hypofibrinogenemia 		0.740 GeneticVariation disease BEFREE Pseudo-exon activation caused by a deep-intronic mutation in the fibrinogen gamma-chain gene as a novel mechanism for congenital afibrinogenaemia. 17854317 2007
CUI: C2584774
Disease: Congenital hypofibrinogenemia
Congenital hypofibrinogenemia 		0.740 GeneticVariation disease BEFREE Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenemia: novel truncating mutations in the FGA and FGG genes. 11354637 2001
CUI: C2584774
Disease: Congenital hypofibrinogenemia
Congenital hypofibrinogenemia 		0.740 GeneticVariation disease BEFREE Consequently, 86% of afibrinogenemia alleles analyzed to date have truncating mutations of FGA, though mutations in all 3 fibrinogen genes, FGG, FGA, and FGB, might be predicted to cause congenital afibrinogenemia. 10891444 2000
CUI: C2584774
Disease: Congenital hypofibrinogenemia
Congenital hypofibrinogenemia 		0.740 GeneticVariation disease BEFREE In this study, we report the identification of a novel nonsense mutation (Arg134Xaa) in the FGG gene responsible for congenital afibrinogenemia in 10 patients from Lebanon. 15284111 2004
CUI: C4316812
Disease: Fibrinogen Deficiency
Fibrinogen Deficiency 		0.700 GeneticVariation disease BEFREE We found a novel hypofibrinogenemia designated as Matsumoto VII (M-VII), which is caused by a heterozygous nucleotide deletion at position g.7651 in FGG and a subsequent frameshift mutation in codon 387 of the gamma-chain. 20589319 2010
CUI: C4316812
Disease: Fibrinogen Deficiency
Fibrinogen Deficiency 		0.700 GeneticVariation disease BEFREE We have identified a novel heterozygous fibrinogen gamma chain mutation, gammaN345S (Fibrinogen Saint-Germain II), in a subject with hypofibrinogenemia. 16363237 2005
CUI: C4316812
Disease: Fibrinogen Deficiency
Fibrinogen Deficiency 		0.700 GeneticVariation disease BEFREE A novel fibrinogen gamma-chain mutation, p.Cys165Arg, causes disruption of the γ165Cys-Bβ227Cys disulfide bond and ultimately leads to hypofibrinogenemia. 30412834 2018
CUI: C4316812
Disease: Fibrinogen Deficiency
Fibrinogen Deficiency 		0.700 GeneticVariation disease BEFREE In this study, we identified a genetic defect in the FGG underlying the hypofibrinogenemia. 23492915 2013
CUI: C4316812
Disease: Fibrinogen Deficiency
Fibrinogen Deficiency 		0.700 GeneticVariation disease BEFREE Recurrence of the 'deep-intronic' FGG IVS6-320A>T mutation causing quantitative fibrinogen deficiency in the Italian population of Veneto. 19551918 2009
CUI: C4316812
Disease: Fibrinogen Deficiency
Fibrinogen Deficiency 		0.700 GeneticVariation disease BEFREE Currently, only four mutations (p.Gly284Arg, p.Arg375Trp, delGVYYQ 346-350, p.Thr314Pro), all affecting the fibrinogen γ chain, have been reported to cause fibrinogen storage disease (FSD), a disorder characterized by protein aggregation, endoplasmic reticulum retention and hypofibrinogenemia. 26039544 2015
CUI: C4316812
Disease: Fibrinogen Deficiency
Fibrinogen Deficiency 		0.700 GeneticVariation disease BEFREE Loss of function mutations in FGG have been associated with fibrinogen deficiency, while the c.1423G > A mutation in TBCD causes a novel syndrome of neurodegeneration and early onset encephalopathy. 29769041 2018
CUI: C4316812
Disease: Fibrinogen Deficiency
Fibrinogen Deficiency 		0.700 GeneticVariation disease BEFREE The amplitude of coagulation curves from thrombin time tests allows dysfibrinogenemia caused by the common mutation FGG-Arg301 to be distinguished from hypofibrinogenemia. 28318107 2017
CUI: C4316812
Disease: Fibrinogen Deficiency
Fibrinogen Deficiency 		0.700 GeneticVariation disease BEFREE Mutations in the fibrinogen gamma chain (FGG) gene have been associated with various disorders, such as dysfibrinogenemia, thrombophilia, and hypofibrinogenemia. 27677677 2017
CUI: C4316812
Disease: Fibrinogen Deficiency
Fibrinogen Deficiency 		0.700 GeneticVariation disease BEFREE A novel mutation in the FGG gene (G7590A) was found in all patients from the two families with hypofibrinogenemia. 16607083 2006
CUI: C0272350
Disease: Dysfibrinogenemia, Congenital
Dysfibrinogenemia, Congenital 		0.610 GeneticVariation disease BEFREE Coexisting congenital dysfibrinogenemia with a novel mutation in fibrinogen γ chain (γ322 Phe→Ile, Fibrinogen Beijing) and haemophilia B in a family. 25982359 2015
CUI: C0272350
Disease: Dysfibrinogenemia, Congenital
Dysfibrinogenemia, Congenital 		0.610 GeneticVariation disease UNIPROT Characterization of fibrinogen Milano I: amino acid exchange gamma 330 Asp----Val impairs fibrin polymerization. 3708159 1986
CUI: C0272350
Disease: Dysfibrinogenemia, Congenital
Dysfibrinogenemia, Congenital 		0.610 GeneticVariation disease UNIPROT Fibrinogen Baltimore I: polymerization defect associated with a gamma 292Gly----Val (GGC----GTC) mutation. 2257302 1990
CUI: C0272350
Disease: Dysfibrinogenemia, Congenital
Dysfibrinogenemia, Congenital 		0.610 GeneticVariation disease UNIPROT Fibrinogen Philadelphia, a hypodysfibrinogenemia characterized by abnormal polymerization and fibrinogen hypercatabolism due to gamma S378P mutation. 15632207 2005
CUI: C0272350
Disease: Dysfibrinogenemia, Congenital
Dysfibrinogenemia, Congenital 		0.610 GeneticVariation disease UNIPROT "Normal plasmic cleavage of the gamma-chain variant of ""fibrinogen Saga"" with an Arg-275 to His substitution." 2976995 1988
CUI: C0001733
Disease: Afibrinogenemia
Afibrinogenemia 		0.530 GeneticVariation disease BEFREE This is the first report of a mutation in the fibrinogen gamma-chain gene causing afibrinogenemia and indicates that, in addition to the Aalpha and Bbeta-chain genes, the gamma-chain gene must also be considered in mutation screening for afibrinogenemia. 11001902 2000
CUI: C0001733
Disease: Afibrinogenemia
Afibrinogenemia 		0.530 GeneticVariation disease LHGDN Expression and analysis of a split premature termination codon in FGG responsible for congenital afibrinogenemia: escape from RNA surveillance mechanisms in transfected cells. 15284111 2004
CUI: C0472803
Disease: Hypodysfibrinogenemia
Hypodysfibrinogenemia 		0.440 GeneticVariation disease BEFREE Fibrinogen Columbus II: A novel c.1075G>T mutation in the FGG gene causing hypodysfibrinogenemia and thrombosis in an adolescent male. 31131962 2019
CUI: C0472803
Disease: Hypodysfibrinogenemia
Hypodysfibrinogenemia 		0.440 GeneticVariation disease BEFREE A novel fibrinogen γ chain frameshift deletion (c.637delT) in a patient with hypodysfibrinogenemia associated with thrombosis. 26540127 2015
CUI: C0472803
Disease: Hypodysfibrinogenemia
Hypodysfibrinogenemia 		0.440 GeneticVariation disease BEFREE Direct sequencing analyses were performed on FGA, FGB, and FGG genes to confirm hypodysfibrinogenemia and on the protein C gene to confirm protein C deficiency. 30632992 2019