Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Glycogen Storage Disease Type V PYGM disease C0017924 Biomarker 1 orphanet , disgenet
Glycogen Storage Disease Type V PYGM disease C0017924 AlteredExpression 1 orphanet , disgenet
Glycogen Storage Disease Type V PYGM disease C0017924 CausalMutation 1 orphanet , disgenet
Glycogen Storage Disease Type V PYGM disease C0017924 GermlineCausalMutation 1 orphanet , disgenet
Glycogen Storage Disease Type V PYGM disease C0017924 GeneticVariation 1 orphanet , disgenet
Glycogen Storage Disease Type V ACE disease C0017924 GeneticVariation 0.34 disgenet
Glycogen Storage Disease Type V ACE disease C0017924 Biomarker 0.34 disgenet
Glycogen Storage Disease Type V HIF1A disease C0017924 Biomarker 0.2 disgenet
Glycogen Storage Disease Type V ACTN3 disease C0017924 GeneticVariation 0.03 disgenet
Glycogen Storage Disease Type V AMPD1 disease C0017924 GeneticVariation 0.03 disgenet
Glycogen Storage Disease Type V AMPD1 disease C0017924 Biomarker 0.03 disgenet
Glycogen Storage Disease Type V PPL disease C0017924 GeneticVariation 0.02 disgenet
Glycogen Storage Disease Type V CPT2 disease C0017924 Biomarker 0.02 disgenet
Glycogen Storage Disease Type V PPL disease C0017924 Biomarker 0.02 disgenet
Glycogen Storage Disease Type V COX1 disease C0017924 GeneticVariation 0.01 disgenet
Glycogen Storage Disease Type V MXD1 disease C0017924 Biomarker 0.01 disgenet
Glycogen Storage Disease Type V AKT1 disease C0017924 AlteredExpression 0.01 disgenet
Glycogen Storage Disease Type V AMPD2 disease C0017924 GeneticVariation 0.01 disgenet
Glycogen Storage Disease Type V ATP2A1 disease C0017924 Biomarker 0.01 disgenet
Glycogen Storage Disease Type V SLC2A4 disease C0017924 AlteredExpression 0.01 disgenet
Glycogen Storage Disease Type V MB disease C0017924 AlteredExpression 0.01 disgenet
Glycogen Storage Disease Type V PTK2B disease C0017924 AlteredExpression 0.01 disgenet
Glycogen Storage Disease Type V AKT2 disease C0017924 AlteredExpression 0.01 disgenet
Glycogen Storage Disease Type V MSTN disease C0017924 GeneticVariation 0.01 disgenet
Glycogen Storage Disease Type V APRT disease C0017924 Biomarker 0.01 disgenet
Glycogen Storage Disease Type V PGM1 disease C0017924 AlteredExpression 0.01 disgenet
Glycogen Storage Disease Type V PYGL disease C0017924 GeneticVariation 0.01 disgenet
Glycogen Storage Disease Type V MADD disease C0017924 GeneticVariation 0.01 disgenet
Glycogen Storage Disease Type V MFAP1 disease C0017924 Biomarker 0.01 disgenet
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