Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
0.140 GeneticVariation disease BEFREE SLC35A2-CDG is characterized by severe neurological symptoms and, in many patients, early-onset epileptic encephalopathy. 30746764 2019
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
0.140 GeneticVariation disease BEFREE Developmental and epileptic encephalopathy with hypsarrhythmia is present in most patients with SLC35A2 variants, and is drug-resistant in the majority of cases. 30194038 2018
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
0.140 GeneticVariation disease BEFREE 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
0.140 GeneticVariation disease BEFREE De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy. 24115232 2013
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
0.140 GeneticVariation disease CLINVAR
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
0.140 Biomarker disease HPO