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 Biomarker disease GENOMICS_ENGLAND Identification and characterization of novel mutations implicated in congenital fibrinogen disorders. 30349899 2018
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 GermlineCausalMutation disease ORPHANET Congenital hypofibrinogenemia: characterization of two missense mutations affecting fibrinogen assembly and secretion. 18676163 2008
CUI: C2584774
Disease: Congenital hypofibrinogenemia
Congenital hypofibrinogenemia 		0.740 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 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 		0.740 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: 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 GermlineCausalMutation disease ORPHANET Fibrinogen gene mutations accounting for congenital afibrinogenemia. 11460507 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 Biomarker disease CTD_human
CUI: C2584774
Disease: Congenital hypofibrinogenemia
Congenital hypofibrinogenemia 		0.740 CausalMutation disease CLINVAR
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 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 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 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 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 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 A novel mutation in the FGG gene (G7590A) was found in all patients from the two families with hypofibrinogenemia. 16607083 2006
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 Biomarker disease CTD_human
CUI: C4316812
Disease: Fibrinogen Deficiency
Fibrinogen Deficiency 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C4316812
Disease: Fibrinogen Deficiency
Fibrinogen Deficiency 		0.700 Biomarker disease HPO
CUI: C0272350
Disease: Dysfibrinogenemia, Congenital
Dysfibrinogenemia, Congenital 		0.610 Biomarker disease GENOMICS_ENGLAND Identification and characterization of novel mutations implicated in congenital fibrinogen disorders. 30349899 2018