Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Glycogen Storage Disease Type VI PYGL disease C0017925 GermlineCausalMutation 0.72 orphanet , disgenet
Glycogen Storage Disease Type VI PYGL disease C0017925 GeneticVariation 0.72 orphanet , disgenet
Glycogen Storage Disease Type VI PYGL disease C0017925 Biomarker 0.72 orphanet , disgenet
Glycogen Storage Disease Type VI PYGL disease C0017925 CausalMutation 0.72 orphanet , disgenet
Glycogen Storage Disease Type VI EVPL disease C0017925 AlteredExpression 0.01 disgenet
Glycogen Storage Disease Type VI CD38 disease C0017925 Biomarker 0.01 disgenet
Glycogen Storage Disease Type VI CDKN2A disease C0017925 GeneticVariation 0.01 disgenet
Glycogen Storage Disease Type VI JAK2 disease C0017925 GeneticVariation 0.01 disgenet
Glycogen Storage Disease Type VI VWF disease C0017925 AlteredExpression 0.01 disgenet
Glycogen Storage Disease Type VI MMACHC disease C0017925 GeneticVariation 0.01 disgenet
Glycogen Storage Disease Type VI TET2 disease C0017925 GeneticVariation 0.01 disgenet
Glycogen Storage Disease Type VI BRCA1 disease C0017925 Biomarker 0.01 disgenet
Glycogen Storage Disease Type VI TAC1 disease C0017925 Biomarker 0.01 disgenet
Glycogen Storage Disease Type VI BRAF disease C0017925 GeneticVariation 0.01 disgenet
Glycogen Storage Disease Type VI MYCN disease C0017925 Biomarker 0.01 disgenet
Glycogen Storage Disease Type VI ENO2 disease C0017925 Biomarker 0.01 disgenet
Glycogen Storage Disease Type VI PTH disease C0017925 Biomarker 0.01 disgenet
Glycogen Storage Disease Type VI GCG disease C0017925 AlteredExpression 0.01 disgenet
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