| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.330 | GeneticVariation | disease | BEFREE | In this study, the mutational screening of an afibrinogenemic Italian male identified the first missense mutation (Met51Arg) in FGA leading to afibrinogenemia. | 17531448 | 2007 | ||||
|
0.330 | GeneticVariation | disease | BEFREE | Since this first report, 61 additional mutations, the majority in FGA, have been identified in patients with afibrinogenemia (in homozygosity or in compound heterozygosity) or in heterozygosity in hypofibrinogenemia, since many of these patients are in fact asymptomatic carriers of afibrinogenemia mutations. | 17295221 | 2007 | ||||
|
0.330 | GeneticVariation | disease | LHGDN | Since this first report, 61 additional mutations, the majority in FGA, have been identified in patients with afibrinogenemia (in homozygosity or in compound heterozygosity) or in heterozygosity in hypofibrinogenemia, since many of these patients are in fact asymptomatic carriers of afibrinogenemia mutations. | 17295221 | 2007 | ||||
|
0.330 | Biomarker | disease | CTD_human | Congenital afibrinogenaemia in a newborn infant due to a novel mutation in the fibrinogen aalpha gene. | 12358944 | 2002 | ||||
|
0.330 | GeneticVariation | disease | BEFREE | Our results confirm the utility of transfecting COS-7 cells to study mRNA splice-site mutations and demonstrate that the common FGA IVS4 variant is a null mutation leading to afibrinogenemia. | 11238133 | 2001 | ||||
|
0.330 | Biomarker | disease | CTD_human | Mutations in the fibrinogen aalpha gene account for the majority of cases of congenital afibrinogenemia. | 10891444 | 2000 | ||||
|
0.330 | Biomarker | disease | CTD_human | The 11 kb FGA deletion responsible for congenital afibrinogenaemia is mediated by a short direct repeat in the fibrinogen gene cluster. | 10602365 | 1999 | ||||
|
0.330 | Biomarker | disease | CTD_human | Fibrinogen Marburg: a homozygous case of dysfibrinogenemia, lacking amino acids A alpha 461-610 (Lys 461 AAA-->stop TAA). | 1391954 | 1992 |