SLC35A2, solute carrier family 35 member A2, 7355

N. diseases: 197; N. variants: 18
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.110 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
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.110 Biomarker disease HPO