General Information of Disease (ID: DISO39YP)

Disease Name Spastic paraplegia 87, autosomal recessive
Synonyms SPG87; autosomal recessive spastic paraplegia type 87; spastic paraplegia 87, autosomal recessive
Disease Hierarchy
DISGZQV1: Hereditary spastic paraplegia
DISO39YP: Spastic paraplegia 87, autosomal recessive
Disease Identifiers
MONDO ID
MONDO_0031019
UMLS CUI
C5774182
OMIM ID
619966
MedGen ID
1813069

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
TMEM63C OTKDX01I Limited Autosomal recessive [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.