Gene table of THBD : thrombomodulin

Gene-disease associations table

Disease IDDisease nameSource of annotation with THBDOMIM linkNumber of associated genesgenes
PS235400HEMOLYTIC UREMIC SYNDROMEClinVar, OMIM, HUMSAVAR link to OMIM 11CFH, CFHR3, CFHR1, BAAT, CFI, THBD, C3AR1, C3, CD46, CFB, DGKE
PS188050THROMBOPHILIAClinVar, OMIM, HUMSAVAR link to OMIM 13HRG, SERPIND1, F5, MTHFR, SERPINC1, THBD, F2, PROS1, PLAT, F9, HABP2, F13A1, PROC

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Annotation of the gene THBD

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Complement and coagulation cascadeshsa046106.58
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Common Pathway of Fibrin Clot FormationR-HSA-1408758.52
Formation of Fibrin Clot (Clotting Cascade)R-HSA-1408777.7
HemostasisR-HSA-1095823.98
Cell surface interactions at the vascular wallR-HSA-2027336.32
Associated GO terms for Molecular function
GO termGO IDGO IC
bindingGO:00054880.18
cation bindingGO:00431691.4
signaling receptor activityGO:00380232.49
signal transducer activityGO:00048712.28
ion bindingGO:00431671.36
molecular transducer activityGO:00600892.32
transmembrane signaling receptor activityGO:00048882.57
calcium ion bindingGO:00055093.17
protein bindingGO:00055150.46
metal ion bindingGO:00468721.41
transmembrane receptor activityGO:00996002.53
receptor activityGO:00048722.32