| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.010 | GeneticVariation | BEFREE | Here, we studied platelets from GATA1-deficient mice and from a male patient (S14) with a bleeding diathesis attributed to a single amino acid substitution (R216Q) in the N-terminal GATA1 zinc finger that alters binding to DNA. | 15701726 | 2005 |
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|
0.010 | GeneticVariation | BEFREE | The bleeding disorder of patient 1 was attributable to a homozygous Glu102Lys mutation in FXIIIA. | 11826242 | 2002 |
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|
0.010 | GeneticVariation | BEFREE | Patients with mutation L394R in gamma-glutamyl carboxylase have a severe bleeding disorder because of decreased biological activities of all vitamin K-dependent coagulation proteins. | 10934213 | 2000 |
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|
0.010 | GeneticVariation | BEFREE | Our results suggest that, in addition to amyloid deposition, the G654A gelsolin gene defect causes altered gelsolin-mediated cellular mechanisms, which may contribute, e.g., to bleeding tendency in AGel amyloidosis patients. | 10744159 | 2000 |
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|
0.010 | GeneticVariation | BEFREE | Hyperhomocyst(e)inemia and a common methylenetetrahydrofolate reductase mutation (Ala223Val MTHFR) in patients with inherited thrombophilic coagulation defects. | 9409277 | 1997 |
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|
0.010 | GeneticVariation | BEFREE | Hyperhomocyst(e)inemia and a common methylenetetrahydrofolate reductase mutation (Ala223Val MTHFR) in patients with inherited thrombophilic coagulation defects. | 9409277 | 1997 |
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|
0.010 | GeneticVariation | BEFREE | Here we identify a single amino acid substitution (Arg60-->Leu) in the first cytoplasmic loop of the TXA2 receptor in a dominantly inherited bleeding disorder characterized by defective platelet response to TXA2. | 7929844 | 1994 |
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|
0.010 | GeneticVariation | BEFREE | Met 358 to Arg mutation of alpha 1-antitrypsin associated with protein C deficiency in a patient with mild bleeding tendency. | 1569192 | 1992 |