|| common in clinvar
| Disease Association
|| Defects in THBD may be a cause of thromboembolic disease (TED) (MIM:188040); also called inherited thrombophilia. Patients with TED have defects of the haemopoietic system which creates a tendency to the occurrence of thrombosis. TED plays an important role in the pathogenesis of various cardiovascular disorders.
[PMID 21911804] Thrombomodulin gene variants are associated with increased mortality after coronary artery bypass surgery in replicated analyses
[PMID 16820586] Inflammatory gene polymorphisms and risk of postoperative myocardial infarction after cardiac surgery.
[PMID 17677000] Combined effects of thrombosis pathway gene variants predict cardiovascular events.
[PMID 18035074] Association of polymorphisms in platelet and hemostasis system genes with acute myocardial infarction.
|| Low clinical importance, Uncertain benign
|| While other variants in THBD are associated with atypical hemolytic-uremic syndrome, this variant is not very rare and appears to most likely be benign. Delvaeye et al. note that the frequency of this variant is not significantly different between affected subjects and unaffected ones, and PolyPhen-2 predicts that it is benign as well.
[PMID 25225421] Single-Nucleotide Polymorphisms Within the Thrombomodulin Gene (THBD) Predict Mortality in Patients With Graft-Versus-Host Disease