FGG, fibrinogen gamma chain, 2266

N. diseases: 70; N. variants: 18
Disease: Dysfibrinogenemia, Congenital ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913089
rs121913089
Entrez Id: 2266
Gene Symbol: FGG
FGG
CUI: C0272350
Disease:
Dysfibrinogenemia, Congenital 		0.700 GeneticVariation UNIPROT Fibrinogen Philadelphia, a hypodysfibrinogenemia characterized by abnormal polymerization and fibrinogen hypercatabolism due to gamma S378P mutation. 15632207 2005
dbSNP: rs121913089
rs121913089
Entrez Id: 2266
Gene Symbol: FGG
FGG
CUI: C0272350
Disease:
Dysfibrinogenemia, Congenital 		0.700 GeneticVariation UNIPROT Fibrinogen Baltimore I: polymerization defect associated with a gamma 292Gly----Val (GGC----GTC) mutation. 2257302 1990
dbSNP: rs121913089
rs121913089
Entrez Id: 2266
Gene Symbol: FGG
FGG
CUI: C0272350
Disease:
Dysfibrinogenemia, Congenital 		0.700 GeneticVariation UNIPROT "Normal plasmic cleavage of the gamma-chain variant of ""fibrinogen Saga"" with an Arg-275 to His substitution." 2976995 1988
dbSNP: rs121913089
rs121913089
Entrez Id: 2266
Gene Symbol: FGG
FGG
CUI: C0272350
Disease:
Dysfibrinogenemia, Congenital 		0.700 GeneticVariation UNIPROT Characterization of fibrinogen Milano I: amino acid exchange gamma 330 Asp----Val impairs fibrin polymerization. 3708159 1986