Details of Disease

General Information of Disease (ID: DIS1RZMO)

Disease Name Hypertriglyceridemia 1
Synonyms hypertriglyceridemia, susceptibility to; hypertriglyceridemia, familial
Disease Hierarchy
DIS7SN6U: Hypertriglyceridemia
DIS1RZMO: Hypertriglyceridemia 1
Disease Identifiers
MONDO ID
MONDO_0007788
UMLS CUI
C5444012
OMIM ID
145750
MedGen ID
1787149

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
CREB3L3 OTDMU3GP Limited Autosomal dominant [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.