Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 94008
Gene Symbol: SCA18
SCA18
0.010 Biomarker phenotype BEFREE SCA18 is a rare autosomal dominant sensory/motor neuropathy with ataxia (OMIM#607458) associated with a single missense variant c.514 A>G in the interferon related developmental regulator 1 (IFRD1) gene previously reported in a five-generation American family of Irish origin. 29362493 2018