Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Platelet Storage Pool Deficiency GFI1B disease C0032197 CausalMutation 0.41 disgenet
Platelet Storage Pool Deficiency GFI1B disease C0032197 GermlineCausalMutation 0.41 disgenet
Platelet Storage Pool Deficiency GFI1B disease C0032197 GeneticVariation 0.41 disgenet
Platelet Storage Pool Deficiency BLOC1S6 disease C0032197 GeneticVariation 0.22 disgenet
Platelet Storage Pool Deficiency BLOC1S6 disease C0032197 Biomarker 0.22 disgenet
Platelet Storage Pool Deficiency HPS1 disease C0032197 Biomarker 0.21 disgenet
Platelet Storage Pool Deficiency AP3B1 disease C0032197 GeneticVariation 0.21 disgenet
Platelet Storage Pool Deficiency RAB27B disease C0032197 Biomarker 0.21 disgenet
Platelet Storage Pool Deficiency RAB27A disease C0032197 Biomarker 0.21 disgenet
Platelet Storage Pool Deficiency DTNBP1 disease C0032197 Biomarker 0.21 disgenet
Platelet Storage Pool Deficiency RAB27A disease C0032197 AlteredExpression 0.21 disgenet
Platelet Storage Pool Deficiency AP3D1 disease C0032197 GeneticVariation 0.21 disgenet
Platelet Storage Pool Deficiency AP3D1 disease C0032197 Biomarker 0.21 disgenet
Platelet Storage Pool Deficiency AP3B1 disease C0032197 Biomarker 0.21 disgenet
Platelet Storage Pool Deficiency HPS1 disease C0032197 GeneticVariation 0.21 disgenet
Platelet Storage Pool Deficiency RAB27B disease C0032197 AlteredExpression 0.21 disgenet
Platelet Storage Pool Deficiency LYST disease C0032197 Biomarker 0.2 disgenet
Platelet Storage Pool Deficiency BLOC1S5 disease C0032197 Biomarker 0.2 disgenet
Platelet Storage Pool Deficiency SLC7A11 disease C0032197 Biomarker 0.2 disgenet
Platelet Storage Pool Deficiency HPS5 disease C0032197 Biomarker 0.2 disgenet
Platelet Storage Pool Deficiency HPS3 disease C0032197 Biomarker 0.2 disgenet
Platelet Storage Pool Deficiency DOCK7 disease C0032197 Biomarker 0.2 disgenet
Platelet Storage Pool Deficiency HPS4 disease C0032197 Biomarker 0.2 disgenet
Platelet Storage Pool Deficiency HOXD13 disease C0032197 Biomarker 0.03 disgenet
Platelet Storage Pool Deficiency HOXD13 disease C0032197 GeneticVariation 0.03 disgenet
Platelet Storage Pool Deficiency RUNX1 disease C0032197 Biomarker 0.02 disgenet
Platelet Storage Pool Deficiency RUNX1 disease C0032197 GeneticVariation 0.02 disgenet
Platelet Storage Pool Deficiency CSF3 disease C0032197 Biomarker 0.01 disgenet
Platelet Storage Pool Deficiency ABCC4 disease C0032197 Biomarker 0.01 disgenet
Platelet Storage Pool Deficiency PRDX5 disease C0032197 AlteredExpression 0.01 disgenet
Platelet Storage Pool Deficiency F10 disease C0032197 GeneticVariation 0.01 disgenet
Platelet Storage Pool Deficiency TFF1 disease C0032197 GeneticVariation 0.01 disgenet
Platelet Storage Pool Deficiency FLI1 NA C0032197 NA NA orphanet
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