FGB, fibrinogen beta chain, 2244

N. diseases: 95; N. variants: 30
Disease: Congenital hypofibrinogenemia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909622
rs121909622
Entrez Id: 2244
Gene Symbol: FGB
FGB
CUI: C2584774
Disease:
Congenital hypofibrinogenemia 		0.700 GeneticVariation UNIPROT Clinical and molecular characterisation of 21 patients affected by quantitative fibrinogen deficiency. 25427968 2015
dbSNP: rs121909622
rs121909622
Entrez Id: 2244
Gene Symbol: FGB
FGB
CUI: C2584774
Disease:
Congenital hypofibrinogenemia 		0.700 GeneticVariation UNIPROT Missense or splicing mutation? The case of a fibrinogen Bbeta-chain mutation causing severe hypofibrinogenemia. 15070683 2004
dbSNP: rs121909622
rs121909622
Entrez Id: 2244
Gene Symbol: FGB
FGB
CUI: C2584774
Disease:
Congenital hypofibrinogenemia 		0.700 GeneticVariation 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
dbSNP: rs121909622
rs121909622
Entrez Id: 2244
Gene Symbol: FGB
FGB
CUI: C2584774
Disease:
Congenital hypofibrinogenemia 		0.700 GeneticVariation UNIPROT Missense mutations in the human beta fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion. 10666208 2000