General Information of Disease (ID: DIS0BZCF)

Disease Name Liddle syndrome 2
Synonyms Liddle syndrome 2; LIDLS2; Liddle syndrome caused by mutation in SCNN1G; SCNN1G Liddle syndrome
Definition Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1G gene.
Disease Hierarchy
DISY0X0N: Liddle syndrome
DIS0BZCF: Liddle syndrome 2
Disease Identifiers
MONDO ID
MONDO_0020854
UMLS CUI
C4748251
OMIM ID
618114
MedGen ID
1648476

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
SCNN1G OTSJYQVQ Strong Autosomal dominant [1]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.