Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 11340
Gene Symbol: EXOSC8
EXOSC8
0.010 GeneticVariation phenotype BEFREE Other EXOSC3 mutations and EXOSC8 cases are intermediate - SMA type 1-like presentation, spasticity (mostly in EXOSC8) and death between 3 months and 5 years. 29656927 2018