Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Congenital disorder of glycosylation type 1A PMM2 disease C0349653 Biomarker 0.8 disgenet
Congenital disorder of glycosylation type 1A PMM2 disease C0349653 AlteredExpression 0.8 disgenet
Congenital disorder of glycosylation type 1A PMM2 disease C0349653 CausalMutation 0.8 disgenet
Congenital disorder of glycosylation type 1A PMM2 disease C0349653 GeneticVariation 0.8 disgenet
Congenital disorder of glycosylation type 1A PMM1 disease C0349653 GeneticVariation 0.03 disgenet
Congenital disorder of glycosylation type 1A PMM1 disease C0349653 Biomarker 0.03 disgenet
Congenital disorder of glycosylation type 1A PMM1 disease C0349653 AlteredExpression 0.03 disgenet
Congenital disorder of glycosylation type 1A MPI disease C0349653 AlteredExpression 0.02 disgenet
Congenital disorder of glycosylation type 1A LEMD3 disease C0349653 Biomarker 0.02 disgenet
Congenital disorder of glycosylation type 1A LEMD3 disease C0349653 GeneticVariation 0.02 disgenet
Congenital disorder of glycosylation type 1A MPI disease C0349653 Biomarker 0.02 disgenet
Congenital disorder of glycosylation type 1A OGA disease C0349653 AlteredExpression 0.01 disgenet
Congenital disorder of glycosylation type 1A GYPE disease C0349653 Biomarker 0.01 disgenet
Congenital disorder of glycosylation type 1A GYPA disease C0349653 Biomarker 0.01 disgenet
Congenital disorder of glycosylation type 1A AHCY disease C0349653 Biomarker 0.01 disgenet
Congenital disorder of glycosylation type 1A ALG6 disease C0349653 Biomarker 0.01 disgenet
Congenital disorder of glycosylation type 1A GYPB disease C0349653 Biomarker 0.01 disgenet
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