Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6487
Gene Symbol: ST3GAL3
ST3GAL3
0.420 GeneticVariation disease BEFREE For this purpose we generated induced pluripotent stem cell (iPSC) lines from fibroblasts obtained from a patient with West syndrome, carrying a variant in exon 12 (c.958G>C, p.(Ala320Pro)) of ST3GAL3, and a healthy sibling, using lentiviral reprogramming. iPSCs and cortical neurons derived thereof were analysed by lectin blots, mRNA sequencing, adherence assays, and FACS. 30089820 2018
Entrez Id: 6487
Gene Symbol: ST3GAL3
ST3GAL3
0.420 GermlineCausalMutation disease ORPHANET Using homozygosity mapping followed by exome sequencing we identified an ST3GAL3 mutation in three infants with West syndrome. 23252400 2013
Entrez Id: 6487
Gene Symbol: ST3GAL3
ST3GAL3
0.420 GeneticVariation disease BEFREE Using homozygosity mapping followed by exome sequencing we identified an ST3GAL3 mutation in three infants with West syndrome. 23252400 2013
Entrez Id: 6487
Gene Symbol: ST3GAL3
ST3GAL3
0.420 Biomarker disease HPO