Details of Disease | DrugMAP

General Information of Disease (ID: DIS0A4GC)

Disease Name	Inclusion body myopathy and brain white matter abnormalities
Disease Hierarchy	DISK4S94: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia DIS3HIWD: Autosomal dominant disease DIS0A4GC: Inclusion body myopathy and brain white matter abnormalities
Disease Identifiers	MONDO ID MONDO_0850514 UMLS CUI C5676909 OMIM ID 619733 MedGen ID 1812978

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ANXA11	DTGQ2CF	Limited	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ANXA11	OT8SRY1C	Limited	Autosomal dominant	[1]
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References

1	GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy. Ann Neurol. 2017 Sep;82(3):466-478. doi: 10.1002/ana.25032.