Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Osteoglophonic dwarfism FGFR1 disease C0432283 Biomarker 0.73 disgenet
Osteoglophonic dwarfism FGFR1 disease C0432283 CausalMutation 0.73 disgenet
Osteoglophonic dwarfism FGFR1 disease C0432283 GeneticVariation 0.73 disgenet
Osteoglophonic dwarfism FGFR1 disease C0432283 GermlineCausalMutation 0.73 disgenet
Osteoglophonic dwarfism PIK3CD disease C0432283 Biomarker 0.05 disgenet
Osteoglophonic dwarfism PIK3CD disease C0432283 AlteredExpression 0.05 disgenet
Osteoglophonic dwarfism PIK3CB disease C0432283 Biomarker 0.05 disgenet
Osteoglophonic dwarfism PIK3CB disease C0432283 AlteredExpression 0.05 disgenet
Osteoglophonic dwarfism PIK3CA disease C0432283 Biomarker 0.05 disgenet
Osteoglophonic dwarfism PIK3CG disease C0432283 AlteredExpression 0.05 disgenet
Osteoglophonic dwarfism PIK3CA disease C0432283 AlteredExpression 0.05 disgenet
Osteoglophonic dwarfism PIK3CG disease C0432283 Biomarker 0.05 disgenet
Osteoglophonic dwarfism HIF1A disease C0432283 AlteredExpression 0.04 disgenet
Osteoglophonic dwarfism HIF1A disease C0432283 Biomarker 0.04 disgenet
Osteoglophonic dwarfism VEGFA disease C0432283 Biomarker 0.03 disgenet
Osteoglophonic dwarfism VEGFA disease C0432283 AlteredExpression 0.03 disgenet
Osteoglophonic dwarfism MAPK1 disease C0432283 Biomarker 0.03 disgenet
Osteoglophonic dwarfism AKT1 disease C0432283 GeneticVariation 0.03 disgenet
Osteoglophonic dwarfism AKT1 disease C0432283 Biomarker 0.03 disgenet
Osteoglophonic dwarfism SOD1 disease C0432283 AlteredExpression 0.02 disgenet
Osteoglophonic dwarfism SOD1 disease C0432283 Biomarker 0.02 disgenet
Osteoglophonic dwarfism CASP9 disease C0432283 Biomarker 0.02 disgenet
Osteoglophonic dwarfism SLC1A2 disease C0432283 AlteredExpression 0.02 disgenet
Osteoglophonic dwarfism SLC1A2 disease C0432283 Biomarker 0.02 disgenet
Osteoglophonic dwarfism EPHB2 disease C0432283 Biomarker 0.02 disgenet
Osteoglophonic dwarfism CASP9 disease C0432283 AlteredExpression 0.02 disgenet
Osteoglophonic dwarfism CASP3 disease C0432283 Biomarker 0.02 disgenet
Osteoglophonic dwarfism CASP3 disease C0432283 AlteredExpression 0.02 disgenet
Osteoglophonic dwarfism MIR183 disease C0432283 Biomarker 0.01 disgenet
Osteoglophonic dwarfism GABPA disease C0432283 Biomarker 0.01 disgenet
Osteoglophonic dwarfism EZH2 disease C0432283 AlteredExpression 0.01 disgenet
Osteoglophonic dwarfism MIR210 disease C0432283 Biomarker 0.01 disgenet
Osteoglophonic dwarfism TSLP disease C0432283 Biomarker 0.01 disgenet
Osteoglophonic dwarfism BCL2 disease C0432283 AlteredExpression 0.01 disgenet
Osteoglophonic dwarfism AHSA1 disease C0432283 Biomarker 0.01 disgenet
Osteoglophonic dwarfism AIMP2 disease C0432283 Biomarker 0.01 disgenet
Osteoglophonic dwarfism POLDIP2 disease C0432283 Biomarker 0.01 disgenet
Osteoglophonic dwarfism MAPK14 disease C0432283 Biomarker 0.01 disgenet
Osteoglophonic dwarfism TNFRSF12A disease C0432283 AlteredExpression 0.01 disgenet
Osteoglophonic dwarfism ELK1 disease C0432283 Biomarker 0.01 disgenet
Osteoglophonic dwarfism THBS1 disease C0432283 Biomarker 0.01 disgenet
Osteoglophonic dwarfism SIRT1 disease C0432283 Biomarker 0.01 disgenet
Osteoglophonic dwarfism CBS disease C0432283 AlteredExpression 0.01 disgenet
Osteoglophonic dwarfism FXYD1 disease C0432283 AlteredExpression 0.01 disgenet
Osteoglophonic dwarfism BDNF disease C0432283 AlteredExpression 0.01 disgenet
Osteoglophonic dwarfism MIR30B disease C0432283 AlteredExpression 0.01 disgenet
Osteoglophonic dwarfism TSPAN33 disease C0432283 AlteredExpression 0.01 disgenet
Osteoglophonic dwarfism MIR132 disease C0432283 Biomarker 0.01 disgenet
Osteoglophonic dwarfism MIR377 disease C0432283 AlteredExpression 0.01 disgenet
Osteoglophonic dwarfism CAT disease C0432283 Biomarker 0.01 disgenet
Osteoglophonic dwarfism MIR29A disease C0432283 Biomarker 0.01 disgenet
Osteoglophonic dwarfism ANXA2 disease C0432283 AlteredExpression 0.01 disgenet
Osteoglophonic dwarfism MIR181C disease C0432283 Biomarker 0.01 disgenet
Osteoglophonic dwarfism MBP disease C0432283 Biomarker 0.01 disgenet
Osteoglophonic dwarfism VEGFC disease C0432283 Biomarker 0.01 disgenet
Osteoglophonic dwarfism HSPA5 disease C0432283 AlteredExpression 0.01 disgenet
Osteoglophonic dwarfism RNF19A disease C0432283 Biomarker 0.01 disgenet
Osteoglophonic dwarfism RNF41 disease C0432283 AlteredExpression 0.01 disgenet
Osteoglophonic dwarfism MMP9 disease C0432283 AlteredExpression 0.01 disgenet
Osteoglophonic dwarfism NOTCH1 disease C0432283 AlteredExpression 0.01 disgenet
Osteoglophonic dwarfism ID2 disease C0432283 Biomarker 0.01 disgenet
Osteoglophonic dwarfism CASR disease C0432283 Biomarker 0.01 disgenet
Osteoglophonic dwarfism PTK2B disease C0432283 GeneticVariation 0.01 disgenet
Osteoglophonic dwarfism TNF disease C0432283 Biomarker 0.01 disgenet
Osteoglophonic dwarfism CASP1 disease C0432283 AlteredExpression 0.01 disgenet
Osteoglophonic dwarfism KLF2 disease C0432283 Biomarker 0.01 disgenet
Osteoglophonic dwarfism MALAT1 disease C0432283 Biomarker 0.01 disgenet
Osteoglophonic dwarfism IL6 disease C0432283 Biomarker 0.01 disgenet
Osteoglophonic dwarfism AQP4 disease C0432283 AlteredExpression 0.01 disgenet
Osteoglophonic dwarfism CRK disease C0432283 Biomarker 0.01 disgenet
Osteoglophonic dwarfism ANGPT2 disease C0432283 Biomarker 0.01 disgenet
Osteoglophonic dwarfism TRPC6 disease C0432283 AlteredExpression 0.01 disgenet
Osteoglophonic dwarfism NEAT1 disease C0432283 AlteredExpression 0.01 disgenet
Osteoglophonic dwarfism CXCL1 disease C0432283 AlteredExpression 0.01 disgenet
Osteoglophonic dwarfism C20orf181 disease C0432283 AlteredExpression 0.01 disgenet
Osteoglophonic dwarfism MSC disease C0432283 GeneticVariation 0.01 disgenet
Osteoglophonic dwarfism IL1B disease C0432283 Biomarker 0.01 disgenet
Osteoglophonic dwarfism RNPS1 disease C0432283 AlteredExpression 0.01 disgenet
Osteoglophonic dwarfism FGFR2 disease C0432283 GeneticVariation 0.01 disgenet
Osteoglophonic dwarfism CXCL10 disease C0432283 Biomarker 0.01 disgenet
Osteoglophonic dwarfism XBP1 disease C0432283 AlteredExpression 0.01 disgenet
Osteoglophonic dwarfism FGFR3 disease C0432283 GeneticVariation 0.01 disgenet
Osteoglophonic dwarfism IL10 disease C0432283 Biomarker 0.01 disgenet
Osteoglophonic dwarfism NTN1 disease C0432283 Biomarker 0.01 disgenet
Osteoglophonic dwarfism CCL2 disease C0432283 AlteredExpression 0.01 disgenet
Osteoglophonic dwarfism MIR133B disease C0432283 Biomarker 0.01 disgenet
Osteoglophonic dwarfism USP8 disease C0432283 Biomarker 0.01 disgenet
Osteoglophonic dwarfism GRIN2B disease C0432283 Biomarker 0.01 disgenet
Osteoglophonic dwarfism VWF disease C0432283 Biomarker 0.01 disgenet
Osteoglophonic dwarfism SERPINF1 disease C0432283 Biomarker 0.01 disgenet
Osteoglophonic dwarfism PTEN disease C0432283 GeneticVariation 0.01 disgenet
Osteoglophonic dwarfism SLC25A37 disease C0432283 GeneticVariation 0.01 disgenet
Osteoglophonic dwarfism MMP2 disease C0432283 Biomarker 0.01 disgenet
Osteoglophonic dwarfism FKBP3 disease C0432283 Biomarker 0.01 disgenet
Osteoglophonic dwarfism ULK1 disease C0432283 AlteredExpression 0.01 disgenet
Osteoglophonic dwarfism GLRX disease C0432283 AlteredExpression 0.01 disgenet
Osteoglophonic dwarfism MEG3 disease C0432283 AlteredExpression 0.01 disgenet
Osteoglophonic dwarfism NFE2L2 disease C0432283 Biomarker 0.01 disgenet
Osteoglophonic dwarfism ANGPT1 disease C0432283 AlteredExpression 0.01 disgenet
Osteoglophonic dwarfism GRIN2A disease C0432283 Biomarker 0.01 disgenet
Osteoglophonic dwarfism SERPINE1 disease C0432283 AlteredExpression 0.01 disgenet
Osteoglophonic dwarfism MIR134 disease C0432283 AlteredExpression 0.01 disgenet
Osteoglophonic dwarfism BIRC5 disease C0432283 Biomarker 0.01 disgenet
Osteoglophonic dwarfism TEK disease C0432283 AlteredExpression 0.01 disgenet
Osteoglophonic dwarfism SPHK2 disease C0432283 Biomarker 0.01 disgenet
Osteoglophonic dwarfism NEUROG2 disease C0432283 AlteredExpression 0.01 disgenet
Osteoglophonic dwarfism DDIT3 disease C0432283 AlteredExpression 0.01 disgenet
Osteoglophonic dwarfism VSIG4 disease C0432283 AlteredExpression 0.01 disgenet
Osteoglophonic dwarfism GRAP2 disease C0432283 Biomarker 0.01 disgenet
Osteoglophonic dwarfism BECN1 disease C0432283 AlteredExpression 0.01 disgenet
Osteoglophonic dwarfism MOAP1 disease C0432283 Biomarker 0.01 disgenet
Osteoglophonic dwarfism SEMA3A disease C0432283 AlteredExpression 0.01 disgenet
Osteoglophonic dwarfism OCA2 disease C0432283 Biomarker 0.01 disgenet
Osteoglophonic dwarfism HMGB1 disease C0432283 AlteredExpression 0.01 disgenet
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