FGG, fibrinogen gamma chain, 2266

N. diseases: 70; N. variants: 18
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 CTD_human
CUI: C2584774
Disease: Congenital hypofibrinogenemia
Congenital hypofibrinogenemia 		0.740 CausalMutation disease CLINVAR
CUI: C4316812
Disease: Fibrinogen Deficiency
Fibrinogen Deficiency 		0.700 Biomarker disease CTD_human
CUI: C4316812
Disease: Fibrinogen Deficiency
Fibrinogen Deficiency 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C4316812
Disease: Fibrinogen Deficiency
Fibrinogen Deficiency 		0.700 Biomarker disease HPO
CUI: C0272350
Disease: Dysfibrinogenemia, Congenital
Dysfibrinogenemia, Congenital 		0.610 Biomarker disease CTD_human
CUI: C0001733
Disease: Afibrinogenemia
Afibrinogenemia 		0.530 Biomarker disease CTD_human
CUI: C0472803
Disease: Hypodysfibrinogenemia
Hypodysfibrinogenemia 		0.440 Biomarker disease GENOMICS_ENGLAND
CUI: C0472803
Disease: Hypodysfibrinogenemia
Hypodysfibrinogenemia 		0.440 CausalMutation disease CLINVAR
CUI: C0553681
Disease: Hypofibrinogenemia
Hypofibrinogenemia 		0.190 Biomarker disease HPO
CUI: C0042487
Disease: Venous Thrombosis
Venous Thrombosis 		0.110 Biomarker phenotype HPO
CUI: C0000786
Disease: Spontaneous abortion
Spontaneous abortion 		0.100 Biomarker phenotype HPO
CUI: C0014591
Disease: Epistaxis
Epistaxis 		0.100 Biomarker phenotype HPO
CUI: C0017181
Disease: Gastrointestinal Hemorrhage
Gastrointestinal Hemorrhage 		0.100 Biomarker phenotype HPO
CUI: C0017565
Disease: Gingival Hemorrhage
Gingival Hemorrhage 		0.100 Biomarker phenotype HPO
CUI: C0152031
Disease: Joint swelling
Joint swelling 		0.100 Biomarker phenotype HPO
CUI: C0232943
Disease: Intermenstrual heavy bleeding
Intermenstrual heavy bleeding 		0.100 Biomarker phenotype HPO
CUI: C1458140
Disease: Bleeding tendency
Bleeding tendency 		0.100 Biomarker phenotype HPO
CUI: C2937358
Disease: Cerebral Hemorrhage
Cerebral Hemorrhage 		0.100 Biomarker phenotype HPO
CUI: C3463916
Disease: Complement Factor I (C3 inactivator) deficiency
Complement Factor I (C3 inactivator) deficiency 		0.100 CausalMutation disease CLINVAR
CUI: C4016097
Disease: FIBRINOGEN MILANO XII, DIGENIC PHENOTYPE
FIBRINOGEN MILANO XII, DIGENIC PHENOTYPE 		0.100 CausalMutation disease CLINVAR
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 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 Fibrinogen Baltimore I: polymerization defect associated with a gamma 292Gly----Val (GGC----GTC) mutation. 2257302 1990
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