Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
SHORT syndrome PIK3R1 disease C0878684 Biomarker 0.8 orphanet , disgenet
SHORT syndrome PIK3R1 disease C0878684 GermlineCausalMutation 0.8 orphanet , disgenet
SHORT syndrome PIK3R1 disease C0878684 CausalMutation 0.8 orphanet , disgenet
SHORT syndrome PIK3R1 disease C0878684 GeneticVariation 0.8 orphanet , disgenet
SHORT syndrome PIK3CA disease C0878684 AlteredExpression 0.04 disgenet
SHORT syndrome PIK3CG disease C0878684 GeneticVariation 0.04 disgenet
SHORT syndrome PIK3CA disease C0878684 GeneticVariation 0.04 disgenet
SHORT syndrome PIK3CB disease C0878684 AlteredExpression 0.04 disgenet
SHORT syndrome PIK3CD disease C0878684 AlteredExpression 0.04 disgenet
SHORT syndrome PIK3CB disease C0878684 GeneticVariation 0.04 disgenet
SHORT syndrome PIK3CG disease C0878684 AlteredExpression 0.04 disgenet
SHORT syndrome PIK3CD disease C0878684 GeneticVariation 0.04 disgenet
SHORT syndrome AKT1 disease C0878684 AlteredExpression 0.02 disgenet
SHORT syndrome AKT1 disease C0878684 GeneticVariation 0.02 disgenet
SHORT syndrome CRTC2 disease C0878684 GeneticVariation 0.01 disgenet
SHORT syndrome BMP4 disease C0878684 Biomarker 0.01 disgenet
SHORT syndrome PRKCE disease C0878684 GeneticVariation 0.01 disgenet
SHORT syndrome IGF1R disease C0878684 GeneticVariation 0.01 disgenet
SHORT syndrome DDR2 NA C0878684 NA NA orphanet
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