Details of Disease

General Information of Disease (ID: DISZ9ED6)

Disease Name Spinocerebellar ataxia 44
Synonyms SCA44; spinocerebellar ataxia 44
Disease Hierarchy
DISYMHUK: Spinocerebellar ataxia
DISZ9ED6: Spinocerebellar ataxia 44
Disease Identifiers
MONDO ID
MONDO_0033479
UMLS CUI
C4521563
OMIM ID
617691
MedGen ID
1611168

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GRM1 TTVBPDM Strong Autosomal dominant [1]
GRM1 TTVBPDM Strong Genetic Variation [2]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
NIPBL OTF6OOLU moderate Genetic Variation [2]
GRM1 OT7OL93K Strong Autosomal dominant [1]
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References

1 Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44. Am J Hum Genet. 2017 Sep 7;101(3):451-458. doi: 10.1016/j.ajhg.2017.08.005.
2 Exome sequencing in families with severe mental illness identifies novel and rare variants in genes implicated in Mendelian neuropsychiatric syndromes.Psychiatry Clin Neurosci. 2019 Jan;73(1):11-19. doi: 10.1111/pcn.12788. Epub 2018 Dec 12.