Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6709
Gene Symbol: SPTAN1
SPTAN1
0.010 GeneticVariation phenotype BEFREE This patient is the second reported case with 9q33.3-q34.11 deletion involving STXBP1 and SPTAN1 genes associated with epileptic encephalopathy and myoclonic seizures. 29897043 2018