Details of Disease

General Information of Disease (ID: DISZZMLV)

Disease Name Portal hypertension, noncirrhotic
Disease Hierarchy
DISYKSRF: Genetic disease
DISZZMLV: Portal hypertension, noncirrhotic
Disease Identifiers
MONDO ID
MONDO_0024193
UMLS CUI
C4310735
OMIM ID
617068
MedGen ID
934702

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
NDUFS4 OTJKUYEE moderate Biomarker [1]
DGUOK OT78HUZB Strong Biomarker [2]
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References

1 Spleen stiffness measurements using point shear wave elastography detects noncirrhotic portal hypertension in human immunodeficiency virus.Medicine (Baltimore). 2019 Nov;98(47):e17961. doi: 10.1097/MD.0000000000017961.
2 Recurrent recessive mutation in deoxyguanosine kinase causes idiopathic noncirrhotic portal hypertension.Hepatology. 2016 Jun;63(6):1977-86. doi: 10.1002/hep.28499. Epub 2016 Mar 31.