Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Limb Deformities, Congenital HOXD13 group C0206762 Biomarker 0.4 disgenet
Limb Deformities, Congenital HOXD13 group C0206762 GeneticVariation 0.4 disgenet
Limb Deformities, Congenital TP63 group C0206762 Biomarker 0.35 disgenet
Limb Deformities, Congenital TP63 group C0206762 GeneticVariation 0.35 disgenet
Limb Deformities, Congenital TBX3 group C0206762 GeneticVariation 0.33 disgenet
Limb Deformities, Congenital TBX3 group C0206762 Biomarker 0.33 disgenet
Limb Deformities, Congenital SALL1 group C0206762 Biomarker 0.31 disgenet
Limb Deformities, Congenital SALL1 group C0206762 GeneticVariation 0.31 disgenet
Limb Deformities, Congenital TGFB2 group C0206762 Biomarker 0.3 disgenet
Limb Deformities, Congenital FGFR2 group C0206762 Biomarker 0.3 disgenet
Limb Deformities, Congenital MIR17HG group C0206762 Biomarker 0.3 disgenet
Limb Deformities, Congenital HAPLN1 group C0206762 Biomarker 0.3 disgenet
Limb Deformities, Congenital HOXA11 group C0206762 Biomarker 0.3 disgenet
Limb Deformities, Congenital GPC6 group C0206762 Biomarker 0.3 disgenet
Limb Deformities, Congenital HOXD12 group C0206762 Biomarker 0.3 disgenet
Limb Deformities, Congenital CACNA1C group C0206762 Biomarker 0.3 disgenet
Limb Deformities, Congenital CHUK group C0206762 Biomarker 0.3 disgenet
Limb Deformities, Congenital HOXD11 group C0206762 Biomarker 0.3 disgenet
Limb Deformities, Congenital COL11A2 group C0206762 Biomarker 0.3 disgenet
Limb Deformities, Congenital IRF6 group C0206762 Biomarker 0.3 disgenet
Limb Deformities, Congenital SALL4 group C0206762 Biomarker 0.3 disgenet
Limb Deformities, Congenital BMP4 group C0206762 Biomarker 0.2 disgenet
Limb Deformities, Congenital TBX5 group C0206762 Biomarker 0.05 disgenet
Limb Deformities, Congenital RPE65 group C0206762 GeneticVariation 0.05 disgenet
Limb Deformities, Congenital CKAP4 group C0206762 Biomarker 0.05 disgenet
Limb Deformities, Congenital UVRAG group C0206762 GeneticVariation 0.05 disgenet
Limb Deformities, Congenital UVRAG group C0206762 Biomarker 0.05 disgenet
Limb Deformities, Congenital RPE65 group C0206762 Biomarker 0.05 disgenet
Limb Deformities, Congenital TBX5 group C0206762 GeneticVariation 0.05 disgenet
Limb Deformities, Congenital CKAP4 group C0206762 GeneticVariation 0.05 disgenet
Limb Deformities, Congenital WNT7A group C0206762 GeneticVariation 0.04 disgenet
Limb Deformities, Congenital WNT7A group C0206762 Biomarker 0.04 disgenet
Limb Deformities, Congenital ZRS group C0206762 GeneticVariation 0.03 disgenet
Limb Deformities, Congenital ZRS group C0206762 Biomarker 0.03 disgenet
Limb Deformities, Congenital GDF5 group C0206762 GeneticVariation 0.03 disgenet
Limb Deformities, Congenital BHLHA9 group C0206762 Biomarker 0.03 disgenet
Limb Deformities, Congenital MSX2 group C0206762 Biomarker 0.02 disgenet
Limb Deformities, Congenital ZSWIM6 group C0206762 GeneticVariation 0.02 disgenet
Limb Deformities, Congenital GLI3 group C0206762 GeneticVariation 0.02 disgenet
Limb Deformities, Congenital PITX1 group C0206762 GeneticVariation 0.02 disgenet
Limb Deformities, Congenital EIF4A3 group C0206762 GeneticVariation 0.01 disgenet
Limb Deformities, Congenital CHSY1 group C0206762 Biomarker 0.01 disgenet
Limb Deformities, Congenital CRK group C0206762 Biomarker 0.01 disgenet
Limb Deformities, Congenital DLX6 group C0206762 GeneticVariation 0.01 disgenet
Limb Deformities, Congenital EVC group C0206762 GeneticVariation 0.01 disgenet
Limb Deformities, Congenital FBLN1 group C0206762 GeneticVariation 0.01 disgenet
Limb Deformities, Congenital NKX2-5 group C0206762 GeneticVariation 0.01 disgenet
Limb Deformities, Congenital YWHAE group C0206762 Biomarker 0.01 disgenet
Limb Deformities, Congenital NIPBL group C0206762 GeneticVariation 0.01 disgenet
Limb Deformities, Congenital MACROD2 group C0206762 GeneticVariation 0.01 disgenet
Limb Deformities, Congenital HOXC@ group C0206762 GeneticVariation 0.01 disgenet
Limb Deformities, Congenital ZFP37 group C0206762 Biomarker 0.01 disgenet
Limb Deformities, Congenital HOXD@ group C0206762 Biomarker 0.01 disgenet
Limb Deformities, Congenital DHCR7 group C0206762 Biomarker 0.01 disgenet
Limb Deformities, Congenital LRP4 group C0206762 GeneticVariation 0.01 disgenet
Limb Deformities, Congenital KIF16B group C0206762 Biomarker 0.01 disgenet
Limb Deformities, Congenital S1PR2 group C0206762 Biomarker 0.01 disgenet
Limb Deformities, Congenital CHST11 group C0206762 Biomarker 0.01 disgenet
Limb Deformities, Congenital HAND2 group C0206762 AlteredExpression 0.01 disgenet
Limb Deformities, Congenital BMPR1B group C0206762 GeneticVariation 0.01 disgenet
Limb Deformities, Congenital HOXD10 group C0206762 GeneticVariation 0.01 disgenet
Limb Deformities, Congenital LMBR1 group C0206762 GeneticVariation 0.01 disgenet
Limb Deformities, Congenital SHFM3 group C0206762 Biomarker 0.01 disgenet
Limb Deformities, Congenital TWIST1 group C0206762 AlteredExpression 0.01 disgenet
Limb Deformities, Congenital PCSK5 group C0206762 GeneticVariation 0.01 disgenet
Limb Deformities, Congenital HTC2 group C0206762 GeneticVariation 0.01 disgenet
Limb Deformities, Congenital HOXA13 group C0206762 GeneticVariation 0.01 disgenet
Limb Deformities, Congenital FGFR4 group C0206762 Biomarker 0.01 disgenet
Limb Deformities, Congenital CD6 group C0206762 GeneticVariation 0.01 disgenet
Limb Deformities, Congenital DONSON NA C0206762 NA NA orphanet
Limb Deformities, Congenital OTUD6B NA C0206762 NA NA orphanet
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