Details of Disease

General Information of Disease (ID: DISD09NZ)

Disease Name Facioscapulohumeral muscular dystrophy 3, digenic
Synonyms facioscapulohumeral muscular dystrophy 3, digenic; FSHD3
Disease Hierarchy
DISSE0H0: facioscapulohumeral muscular dystrophy
DISD09NZ: Facioscapulohumeral muscular dystrophy 3, digenic
Disease Identifiers
MONDO ID
MONDO_0030354
UMLS CUI
C5561959
OMIM ID
619477
MedGen ID
1794169

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
LRIF1 OTEWN06R Limited Unknown [1]
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References

1 Homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy. Neurology. 2020 Jun 9;94(23):e2441-e2447. doi: 10.1212/WNL.0000000000009617. Epub 2020 May 28.