Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Congenital disorder of glycosylation, type 2C SLC35C1 disease C0398739 Biomarker 0.9 orphanet , disgenet
Congenital disorder of glycosylation, type 2C SLC35C1 disease C0398739 GermlineCausalMutation 0.9 orphanet , disgenet
Congenital disorder of glycosylation, type 2C SLC35C1 disease C0398739 GeneticVariation 0.9 orphanet , disgenet
Congenital disorder of glycosylation, type 2C SLC35C1 disease C0398739 CausalMutation 0.9 orphanet , disgenet
Congenital disorder of glycosylation, type 2C LAD1 disease C0398739 GeneticVariation 0.05 disgenet
Congenital disorder of glycosylation, type 2C LAD1 disease C0398739 Biomarker 0.05 disgenet
Congenital disorder of glycosylation, type 2C ITGB2 disease C0398739 Biomarker 0.05 disgenet
Congenital disorder of glycosylation, type 2C DLD disease C0398739 GeneticVariation 0.05 disgenet
Congenital disorder of glycosylation, type 2C ITGB2 disease C0398739 GeneticVariation 0.05 disgenet
Congenital disorder of glycosylation, type 2C DLD disease C0398739 Biomarker 0.05 disgenet
Congenital disorder of glycosylation, type 2C DHCR7 disease C0398739 GeneticVariation 0.01 disgenet
Congenital disorder of glycosylation, type 2C TAT disease C0398739 GeneticVariation 0.01 disgenet
Congenital disorder of glycosylation, type 2C COX8A disease C0398739 Biomarker 0.01 disgenet
Congenital disorder of glycosylation, type 2C FUT4 disease C0398739 Biomarker 0.01 disgenet
Congenital disorder of glycosylation, type 2C NM disease C0398739 Biomarker 0.01 disgenet
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