General Information of Disease (ID: DISF1XPJ)

Disease Name East Texas bleeding disorder
Synonyms bleeding disorder, EAST Texas type; Bdet
Disease Hierarchy
DISEXNCF: Coagulation protein disease
DIS27CUA: Bleeding disorder
DISF1XPJ: East Texas bleeding disorder
Disease Identifiers
MONDO ID
MONDO_0011615
MESH ID
C565275
UMLS CUI
C1853831
OMIM ID
605913
MedGen ID
342980
Orphanet ID
391320

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
F5 TT1O264 Supportive Autosomal dominant [1]
F5 TT1O264 Strong GermlineCausalMutation [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
F5 OTDMZ3LT Supportive Autosomal dominant [1]
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References

1 Coagulation factor V(A2440G) causes east Texas bleeding disorder via TFPI. J Clin Invest. 2013 Sep;123(9):3777-87. doi: 10.1172/JCI69091. Epub 2013 Aug 27.