Details of Disease | DrugMAP

General Information of Disease (ID: DISF3V0C)

Disease Name	Spastic ataxia 9, autosomal recessive
Synonyms	SPAX9; SPASTIC ATAXIA 9, AUTOSOMAL RECESSIVE
Disease Hierarchy	DISIRRA9: Spastic ataxia DISF3V0C: Spastic ataxia 9, autosomal recessive
Disease Identifiers	MONDO ID MONDO_0032753 UMLS CUI C5193100 OMIM ID 618438 MedGen ID 1680026

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
CHP1	OTHTXN1A	Limited	Unknown	[1]
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References

1	Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function. Neurol Genet. 2018 Jan 19;4(1):e209. doi: 10.1212/NXG.0000000000000209. eCollection 2018 Feb.