FGG, fibrinogen gamma chain, 2266

N. diseases: 70; N. variants: 18
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 		0.740 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