SLC35A2, solute carrier family 35 member A2, 7355

N. diseases: 197; N. variants: 18
Disease: Seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures 		0.120 Biomarker phenotype BEFREE This case would expand the phenotypic spectrum of SLC35A2-related disorders to delayed myelination with spasticity and no seizures. 31231989 2019
CUI: C0036572
Disease: Seizures
Seizures 		0.120 AlteredExpression phenotype BEFREE In approximately 10% of the humanized UGT1 mice, peak TB levels culminated in seizures followed by death. 20194756 2010
CUI: C0036572
Disease: Seizures
Seizures 		0.120 Biomarker phenotype HPO