eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | pyruvate carboxylase deficiency |
| Comorbidity | C0040053|thrombosis |
| Sentences | 2 |
| PubMedID- 25618265 | Introduction: protein c (pc) is a major anticoagulant and numerous distinct mutations in its coding gene result in quantitative or qualitative pc deficiency with high thrombosis risk. |
| PubMedID- 22168450 | This study suggests that fvl and proc mutations increase the risk of thrombosis in subjects with pc deficiency, which could be considered as a 'variable' risk factor. |
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