Details of Disease

General Information of Disease (ID: DISO3J1X)

Disease Name Neurodegeneration and seizures due to copper transport defect
Disease Hierarchy
DISYKSRF: Genetic disease
DISO3J1X: Neurodegeneration and seizures due to copper transport defect
Disease Identifiers
MONDO ID
MONDO_0957211
UMLS CUI
C5830385
OMIM ID
620306
MedGen ID
1841021

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
SLC31A1 DTP8L4F Limited Unknown [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SLC31A1 OTXLRTUB Limited Unknown [1]
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References

1 High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations. Hum Mutat. 2011 Dec;32(12):1427-35. doi: 10.1002/humu.21585. Epub 2011 Sep 23.