Details of Disease

General Information of Disease (ID: DISF296Z)

Disease Name Protein Z deficiency
Synonyms protein z deficiency; protein Z deficiency
Disease Hierarchy
DISYKSRF: Genetic disease
DISF296Z: Protein Z deficiency
Disease Identifiers
MONDO ID
MONDO_0013532
UMLS CUI
C3151465
OMIM ID
614024
MedGen ID
462815

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PROZ OTI3TXBE Limited Unknown [1]
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References

1 A naturally occurring E30Q mutation in the Gla domain of protein Z causes its impaired secretion and subsequent deficiency. Blood. 2005 Apr 15;105(8):3149-54. doi: 10.1182/blood-2004-06-2250. Epub 2004 Dec 30.