Details of Disease | DrugMAP

General Information of Disease (ID: DISRN8BK)

Disease Name	Neuropathy, congenital hypomyelinating, 2
Synonyms	CHN2; hypomyelinating neuropathy, congenital, 2; NEUROPATHY, CONGENITAL HYPOMYELINATING, 2
Disease Hierarchy	DISZUW4L: Neuropathy, congenital hypomelinating DISRN8BK: Neuropathy, congenital hypomyelinating, 2
Disease Identifiers	MONDO ID MONDO_0020765 UMLS CUI C4722277 OMIM ID 618184 MedGen ID 1648446

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
MAPK14	TTQBR95	Strong	Genetic Variation	[1]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TRDN	OTXVE9SF	Strong	Genetic Variation	[1]
MPZ	OTAR2YXH	Definitive	Autosomal dominant	[2]
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References

1	A genome-wide association study suggests that MAPK14 is associated with diabetic foot ulcers.Br J Dermatol. 2017 Dec;177(6):1664-1670. doi: 10.1111/bjd.15787. Epub 2017 Nov 27.
2	A novel MPZ gene mutation in congenital neuropathy with hypomyelination. Neurology. 2004 Jun 8;62(11):2122-3. doi: 10.1212/01.wnl.0000127606.93772.3a.