Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
CUI: C0036572
Disease: Seizures
Seizures 		0.120 GeneticVariation BEFREE The main complain in the first patient with creatine transporter (CRTR) deficiency was seizure and genetic study in this patient identified a novel hemizygote variant of "c.92 > T; p.Pro31Leu" in the first exon of SLC6A8 gene. 31222513

2019
Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
CUI: C0036572
Disease: Seizures
Seizures 		0.120 GeneticVariation BEFREE X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28. 11898126

2002