Details of Disease

General Information of Disease (ID: DISVQZPM)

Disease Name Myopathy, distal, 6, adult-onset, autosomal dominant
Synonyms MPD6; MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT; myopathy, distal, 6, adult onset
Disease Hierarchy
DISYKSRF: Genetic disease
DISVQZPM: Myopathy, distal, 6, adult-onset, autosomal dominant
Disease Identifiers
MONDO ID
MONDO_0032853
UMLS CUI
C5203349
OMIM ID
618655
MedGen ID
1684760

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
ACTN2 OT9FOLD7 Limited Unknown [1]
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References

1 Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations. Ann Neurol. 2019 Jun;85(6):899-906. doi: 10.1002/ana.25470. Epub 2019 Apr 3.