rs41348347, THBD

N. diseases: 3
Disease: Thrombophilia due to Thrombomodulin Defect ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Thrombophilia due to Thrombomodulin Defect
CUI: C3280976
Disease: Thrombophilia due to Thrombomodulin Defect
0.700 GeneticVariation UNIPROT Mutations in the thrombomodulin gene are rare in patients with severe thrombophilia. 12139752 2002
Thrombophilia due to Thrombomodulin Defect
CUI: C3280976
Disease: Thrombophilia due to Thrombomodulin Defect
0.700 GeneticVariation UNIPROT Thrombomodulin gene variations and thromboembolic disease. 9198186 1997
Thrombophilia due to Thrombomodulin Defect
CUI: C3280976
Disease: Thrombophilia due to Thrombomodulin Defect
0.700 GeneticVariation UNIPROT The first mutation identified in the thrombomodulin gene in a 45-year-old man presenting with thromboembolic disease. 7811989 1995