Details of Disease | DrugMAP

General Information of Disease (ID: DIS5XDH2)

Disease Name	Charcot-Marie-Tooth disease, demyelinating, type 1J
Disease Hierarchy	DIS3BT2L: Charcot marie tooth disease DIS5XDH2: Charcot-Marie-Tooth disease, demyelinating, type 1J
Disease Identifiers	MONDO ID MONDO_0859311 UMLS CUI C5774249 OMIM ID 620111 MedGen ID 1824022

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ITPR3	TTH1769	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
ITPR3	OTGQ2AOJ	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.