rs28939087, SLC35C1

N. diseases: 1
Disease: Congenital disorder of glycosylation, type 2C ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Congenital disorder of glycosylation, type 2C
CUI: C0398739
Disease: Congenital disorder of glycosylation, type 2C
0.800 GeneticVariation UNIPROT Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency. 11326280 2001
Congenital disorder of glycosylation, type 2C
CUI: C0398739
Disease: Congenital disorder of glycosylation, type 2C
0.800 GeneticVariation UNIPROT The gene defective in leukocyte adhesion deficiency II encodes a putative GDP-fucose transporter. 11326279 2001
Congenital disorder of glycosylation, type 2C
CUI: C0398739
Disease: Congenital disorder of glycosylation, type 2C
0.800 CausalMutation CLINVAR