Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Short Rib Polydactyly Syndrome NEK1 disease C0036996 Biomarker 0.51 orphanet , disgenet
Short Rib Polydactyly Syndrome NEK1 disease C0036996 GeneticVariation 0.51 orphanet , disgenet
Short Rib Polydactyly Syndrome WDR35 disease C0036996 GeneticVariation 0.42 orphanet , disgenet
Short Rib Polydactyly Syndrome WDR35 disease C0036996 Biomarker 0.42 orphanet , disgenet
Short Rib Polydactyly Syndrome IFT52 disease C0036996 Biomarker 0.41 disgenet
Short Rib Polydactyly Syndrome IFT52 disease C0036996 GeneticVariation 0.41 disgenet
Short Rib Polydactyly Syndrome DYNC2H1 disease C0036996 Biomarker 0.32 orphanet , disgenet
Short Rib Polydactyly Syndrome KIAA0586 disease C0036996 GeneticVariation 0.32 disgenet
Short Rib Polydactyly Syndrome KIAA0586 disease C0036996 Biomarker 0.32 disgenet
Short Rib Polydactyly Syndrome WDR34 disease C0036996 GeneticVariation 0.32 disgenet
Short Rib Polydactyly Syndrome WDR34 disease C0036996 Biomarker 0.32 disgenet
Short Rib Polydactyly Syndrome DYNC2H1 disease C0036996 GeneticVariation 0.32 orphanet , disgenet
Short Rib Polydactyly Syndrome WDR60 disease C0036996 Biomarker 0.31 disgenet
Short Rib Polydactyly Syndrome DYNC2LI1 disease C0036996 Biomarker 0.31 disgenet
Short Rib Polydactyly Syndrome WDR60 disease C0036996 GeneticVariation 0.31 disgenet
Short Rib Polydactyly Syndrome DYNC2LI1 disease C0036996 GeneticVariation 0.31 disgenet
Short Rib Polydactyly Syndrome TCTEX1D2 disease C0036996 Biomarker 0.31 disgenet
Short Rib Polydactyly Syndrome TTC21B disease C0036996 Biomarker 0.3 disgenet
Short Rib Polydactyly Syndrome IFT172 disease C0036996 Biomarker 0.3 disgenet
Short Rib Polydactyly Syndrome CEP120 disease C0036996 Biomarker 0.3 disgenet
Short Rib Polydactyly Syndrome IFT140 disease C0036996 Biomarker 0.3 disgenet
Short Rib Polydactyly Syndrome CILK1 disease C0036996 Biomarker 0.12 disgenet
Short Rib Polydactyly Syndrome CILK1 disease C0036996 GeneticVariation 0.12 disgenet
Short Rib Polydactyly Syndrome INTU disease C0036996 GeneticVariation 0.1 disgenet
Short Rib Polydactyly Syndrome IFT43 disease C0036996 GeneticVariation 0.1 disgenet
Short Rib Polydactyly Syndrome FLVCR1 disease C0036996 GeneticVariation 0.1 disgenet
Short Rib Polydactyly Syndrome IFT80 disease C0036996 Biomarker 0.02 orphanet , disgenet
Short Rib Polydactyly Syndrome UCN2 disease C0036996 GeneticVariation 0.01 disgenet
Short Rib Polydactyly Syndrome TCTN3 disease C0036996 GeneticVariation 0.01 disgenet
Short Rib Polydactyly Syndrome PPP1R2C disease C0036996 GeneticVariation 0.01 disgenet
Short Rib Polydactyly Syndrome DYNC2I2 NA C0036996 NA NA orphanet
Short Rib Polydactyly Syndrome DYNC2I1 NA C0036996 NA NA orphanet
Short Rib Polydactyly Syndrome TRAF3IP1 NA C0036996 NA NA orphanet
Short Rib Polydactyly Syndrome IFT122 NA C0036996 NA NA orphanet
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