Details of Disease

General Information of Disease (ID: DISI9ZHZ)

Disease Name Spastic paraplegia 80, autosomal dominant
Synonyms autosomal dominant spastic paraplegia type 80; SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT; SPG80
Disease Hierarchy
DISGZQV1: Hereditary spastic paraplegia
DISI9ZHZ: Spastic paraplegia 80, autosomal dominant
Disease Identifiers
MONDO ID
MONDO_0032737
UMLS CUI
C5193084
OMIM ID
618418
MedGen ID
1682111

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
UBAP1 OTTW6B2G Strong Autosomal dominant [1]
------------------------------------------------------------------------------------

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.