Details of Disease | DrugMAP

General Information of Disease (ID: DISS7ZM9)

Disease Name	Charcot-Marie-Tooth disease, demyelinating, IIA 1I
Synonyms	Charcot-Marie-Tooth disease, demyelinating, IIA 1I; Charcot-Marie-Tooth disease neuropathy, IIA 1I; CMT1I
Disease Hierarchy	DIS3BT2L: Charcot marie tooth disease DISS7ZM9: Charcot-Marie-Tooth disease, demyelinating, IIA 1I
Disease Identifiers	MONDO ID MONDO_0030677 UMLS CUI C5676914 OMIM ID 619742 MedGen ID 1811493

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
POLR3B	OT3FS9MB	Strong	Autosomal dominant	[1]
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References

1	De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy. Am J Hum Genet. 2021 Jan 7;108(1):186-193. doi: 10.1016/j.ajhg.2020.12.002.