Details of Disease | DrugMAP

General Information of Disease (ID: DISFV7SE)

Disease Name	Charcot-Marie-Tooth disease, axonal, IIa 2II
Synonyms	charcot-marie-tooth disease, axonal, IIa 2II; CMT2II; charcot-marie-tooth neuropathy, IIa 2II
Disease Hierarchy	DIS3BT2L: Charcot marie tooth disease DISFV7SE: Charcot-Marie-Tooth disease, axonal, IIa 2II
Disease Identifiers	MONDO ID MONDO_0031068 UMLS CUI C5774227 OMIM ID 620068 MedGen ID 1824000

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
SLC12A6	DTMA4FJ	Strong	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
SLC12A6	OT9CS413	Strong	Autosomal dominant	[1]
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References

1	Peripheral motor neuropathy is associated with defective kinase regulation of the KCC3 cotransporter. Sci Signal. 2016 Aug 2;9(439):ra77. doi: 10.1126/scisignal.aae0546.