Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
Congenital Disorders of Glycosylation
0.320 Biomarker GENOMICS_ENGLAND A case of early onset epileptic encephalopathy with de novo mutation in SLC35A2: Clinical features and treatment for epilepsy. 27743886

2017

Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
Congenital Disorders of Glycosylation
0.320 Biomarker GENOMICS_ENGLAND A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach. 25778940

2016

Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
Congenital Disorders of Glycosylation
0.320 Biomarker GENOMICS_ENGLAND Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation. 23561849

2013