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GENE - TERM ANNOTATION REPORT

RGD ID: 1553030
Species: Mus musculus
RGD Object: Gene
Symbol: Thbd
Name: thrombomodulin
Acc ID: DOID:0111908
Term: thrombophilia due to thrombomodulin defect
Definition: A thrombophilia characterized by increased risk of developing arterial but not venous thrombosis that has_material_basis_in mutation in the THBD gene on chromosome 20p11.21. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/22036808/ "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
ThbdsusceptibilityISOTHBD (Homo sapiens)7240710OMIM  
Thbd ISOTHBD (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Thbd ISOTHBD (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Thrombomodulin-related bleeding disorder | ClinVar Annotator: match by term: Thrombophilia due to thrombomodulin defectPMID:10102456 PMID:10195941 PMID:10460600 PMID:10627464 PMID:11078228 PMID:11552992 PMID:11986219 PMID:12139752 PMID:19625716 PMID:20595690 PMID:23314101 PMID:23332921 PMID:24029428 PMID:24799305 PMID:24933457 PMID:25135378 PMID:25741868 PMID:27904864 PMID:28492532 PMID:28939980 PMID:31118930 PMID:32890900 PMID:32935436 PMID:34355501 PMID:7811989 PMID:9198186 PMID:9236408 PMID:9364978 PMID:9843165
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