Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 26278
Gene Symbol: SACS
SACS
0.110 GeneticVariation disease BEFREE Two homozygous missense variants, p.(Gly4230Ser) and p.(Leu4221Val) were found in SACS in one consanguineous family, presenting with spastic ataxia and isolated cerebellar atrophy. 28362824 2017
Entrez Id: 26278
Gene Symbol: SACS
SACS
0.110 Biomarker disease HPO