SLC35A2, solute carrier family 35 member A2, 7355

N. diseases: 197; N. variants: 18
Disease: Solute carrier family 35 member A2 congenital disorder of glycosylation ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777436
rs587777436
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
CUI: C3806688
Disease:
Solute carrier family 35 member A2 congenital disorder of glycosylation 		0.800 GeneticVariation UNIPROT Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation. 23561849 2013
dbSNP: rs587777436
rs587777436
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
CUI: C3806688
Disease:
Solute carrier family 35 member A2 congenital disorder of glycosylation 		0.800 GeneticVariation UNIPROT De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy. 24115232 2013
dbSNP: rs587777436
rs587777436
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
CUI: C3806688
Disease:
Solute carrier family 35 member A2 congenital disorder of glycosylation 		A 0.800 CausalMutation CLINVAR