Details of Disease

General Information of Disease (ID: DISWZXRQ)

Disease Name Charcot-Marie-Tooth disease, axonal, Type 2HH
Synonyms CMT2HH
Disease Hierarchy
DIS3BT2L: Charcot marie tooth disease
DISWZXRQ: Charcot-Marie-Tooth disease, axonal, Type 2HH
Disease Identifiers
MONDO ID
MONDO_0030458
UMLS CUI
C5562003
OMIM ID
619574
MedGen ID
1794213

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
JAG1 OT3LGT6K Strong Autosomal dominant [1]
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References

1 Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy. J Clin Invest. 2020 Mar 2;130(3):1506-1512. doi: 10.1172/JCI128152.