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: 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 Biomarker disease MGD A total fibrinogen deficiency is compatible with the development of pulmonary fibrosis in mice. 10980108 2000
CUI: C1260903
Disease: Dysfibrinogenemia
Dysfibrinogenemia 		0.060 Biomarker disease BEFREE It is concluded that the residue gamma-Asp(330) is essential for the normal functioning of the polymerization site a on the fibrinogen gamma-chain. 11071644 2000
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: C0001733
Disease: Afibrinogenemia
Afibrinogenemia 		0.530 Biomarker disease BEFREE Here, we report 13 further unrelated patients with mutations in FGA, confirming the relative importance of this gene compared with FGG and FGB in the molecular aetiology of afibrinogenemia. 11354637 2001
CUI: C0021368
Disease: Inflammation
Inflammation 		0.200 Therapeutic phenotype RGD The responses of rat liver glucocorticoid receptors and genes for tyrosine aminotransferase, alpha-2-macroglobulin and gamma-fibrinogen to adrenalectomy-, dexamethasone- and inflammation-induced changes in the levels of glucocorticoids and proinflammatory cytokines. 11490095 2001
CUI: C0001733
Disease: Afibrinogenemia
Afibrinogenemia 		0.530 Biomarker disease MGD Fibrinogen stabilizes placental-maternal attachment during embryonic development in the mouse. 11891199 2002
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: 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: C0042373
Disease: Vascular Diseases
Vascular Diseases 		0.010 Biomarker group LHGDN Genetic and environmental determinants of fibrin structure and function: relevance to clinical disease. 15217804 2004
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: C0272350
Disease: Dysfibrinogenemia, Congenital
Dysfibrinogenemia, Congenital 		0.610 GermlineCausalMutation disease ORPHANET 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 Fibrinogen Philadelphia, a hypodysfibrinogenemia characterized by abnormal polymerization and fibrinogen hypercatabolism due to gamma S378P mutation. 15632207 2005
CUI: C0553681
Disease: Hypofibrinogenemia
Hypofibrinogenemia 		0.190 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 mutation in the FGG gene (G7590A) was found in all patients from the two families with hypofibrinogenemia. 16607083 2006
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental 		0.200 Biomarker disease RGD Abnormal expression of Smurf2 during the process of rat liver fibrosis. 17054587 2006
CUI: C0553681
Disease: Hypofibrinogenemia
Hypofibrinogenemia 		0.190 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: C0032285
Disease: Pneumonia
Pneumonia 		0.010 AlteredExpression disease LHGDN Cell type-specific differential induction of the human gamma-fibrinogen promoter by interleukin-6. 16524883 2006
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: C0042487
Disease: Venous Thrombosis
Venous Thrombosis 		0.110 GeneticVariation phenotype LHGDN Polymorphism 10034C>T is located in a region regulating polyadenylation of FGG transcripts and influences the fibrinogen gamma'/gammaA mRNA ratio. 17403086 2007
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.020 GeneticVariation disease BEFREE In conclusion, fibrinogen FGG and FGA gene haplotypes are not associated with coronary events, coronary atherosclerosis or extracoronary atherosclerosis. 17264959 2007
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.020 GeneticVariation disease BEFREE In conclusion, fibrinogen FGG and FGA gene haplotypes are not associated with coronary events, coronary atherosclerosis or extracoronary atherosclerosis. 17264959 2007
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.020 GeneticVariation disease BEFREE We propose that the 10034C>T change is the functional variation in FGG-H2 that is responsible for the reduction in the fibrinogen gamma'/total fibrinogen ratio and the increased DVT risk. 17403086 2007