FGB, fibrinogen beta chain, 2244

N. diseases: 95; N. variants: 30
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 		0.760 GeneticVariation disease BEFREE Protein modelling to understand FGB mutations leading to congenital hypofibrinogenaemia. 28306188 2017
CUI: C2584774
Disease: Congenital hypofibrinogenemia
Congenital hypofibrinogenemia 		0.760 GeneticVariation disease UNIPROT Clinical and molecular characterisation of 21 patients affected by quantitative fibrinogen deficiency. 25427968 2015
CUI: C2584774
Disease: Congenital hypofibrinogenemia
Congenital hypofibrinogenemia 		0.760 GeneticVariation disease BEFREE These results suggest that the homozygous mutation in FGB could be responsible for congenital afibrinogenaemia in this patient. 23740095 2013
CUI: C2584774
Disease: Congenital hypofibrinogenemia
Congenital hypofibrinogenemia 		0.760 Biomarker disease GENOMICS_ENGLAND Two novel mutations at contiguous codons in the fibrinogen Bbeta chain associated with hypofibrinogenaemia. 19404555 2009
CUI: C2584774
Disease: Congenital hypofibrinogenemia
Congenital hypofibrinogenemia 		0.760 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 		0.760 GeneticVariation disease UNIPROT Missense or splicing mutation? The case of a fibrinogen Bbeta-chain mutation causing severe hypofibrinogenemia. 15070683 2004
CUI: C2584774
Disease: Congenital hypofibrinogenemia
Congenital hypofibrinogenemia 		0.760 GeneticVariation disease BEFREE Congenital afibrinogenemia: identification and expression of a missense mutation in FGB impairing fibrinogen secretion. 12893758 2003
CUI: C2584774
Disease: Congenital hypofibrinogenemia
Congenital hypofibrinogenemia 		0.760 GeneticVariation disease BEFREE Prenatal diagnosis for congenital afibrinogenemia caused by a novel nonsense mutation in the FGB gene in a Palestinian family. 12511408 2003
CUI: C2584774
Disease: Congenital hypofibrinogenemia
Congenital hypofibrinogenemia 		0.760 GermlineCausalMutation disease ORPHANET Fibrinogen gene mutations accounting for congenital afibrinogenemia. 11460507 2001
CUI: C2584774
Disease: Congenital hypofibrinogenemia
Congenital hypofibrinogenemia 		0.760 GeneticVariation disease UNIPROT The impaired polymerization of fibrinogen Longmont (Bbeta166Arg-->Cys) is not improved by removal of disulfide-linked dimers from a mixture of dimers and cysteine-linked monomers. 11468164 2001
CUI: C2584774
Disease: Congenital hypofibrinogenemia
Congenital hypofibrinogenemia 		0.760 GeneticVariation disease BEFREE Missense mutations in the human beta fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion. 10666208 2000
CUI: C2584774
Disease: Congenital hypofibrinogenemia
Congenital hypofibrinogenemia 		0.760 GeneticVariation disease UNIPROT Missense mutations in the human beta fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion. 10666208 2000
CUI: C2584774
Disease: Congenital hypofibrinogenemia
Congenital hypofibrinogenemia 		0.760 Biomarker 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 		0.760 CausalMutation disease CLINVAR
CUI: C2584774
Disease: Congenital hypofibrinogenemia
Congenital hypofibrinogenemia 		0.760 Biomarker disease CTD_human