FGG, fibrinogen gamma chain, 2266

N. diseases: 70; N. variants: 18
Disease: Dysfibrinogenemia, Congenital ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0272350
Disease: Dysfibrinogenemia, Congenital
Dysfibrinogenemia, Congenital 		0.610 Biomarker disease GENOMICS_ENGLAND Identification and characterization of novel mutations implicated in congenital fibrinogen disorders. 30349899 2018
CUI: C0272350
Disease: Dysfibrinogenemia, Congenital
Dysfibrinogenemia, Congenital 		0.610 GeneticVariation disease BEFREE Coexisting congenital dysfibrinogenemia with a novel mutation in fibrinogen γ chain (γ322 Phe→Ile, Fibrinogen Beijing) and haemophilia B in a family. 25982359 2015
CUI: C0272350
Disease: Dysfibrinogenemia, Congenital
Dysfibrinogenemia, Congenital 		0.610 GermlineCausalMutation disease ORPHANET Natural history of patients with congenital dysfibrinogenemia. 25320241 2015
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: C0272350
Disease: Dysfibrinogenemia, Congenital
Dysfibrinogenemia, Congenital 		0.610 GeneticVariation disease UNIPROT Fibrinogen Baltimore I: polymerization defect associated with a gamma 292Gly----Val (GGC----GTC) mutation. 2257302 1990
CUI: C0272350
Disease: Dysfibrinogenemia, Congenital
Dysfibrinogenemia, Congenital 		0.610 GeneticVariation disease UNIPROT "Normal plasmic cleavage of the gamma-chain variant of ""fibrinogen Saga"" with an Arg-275 to His substitution." 2976995 1988
CUI: C0272350
Disease: Dysfibrinogenemia, Congenital
Dysfibrinogenemia, Congenital 		0.610 GeneticVariation disease UNIPROT Characterization of fibrinogen Milano I: amino acid exchange gamma 330 Asp----Val impairs fibrin polymerization. 3708159 1986
CUI: C0272350
Disease: Dysfibrinogenemia, Congenital
Dysfibrinogenemia, Congenital 		0.610 Biomarker disease CTD_human