Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Jeune syndrome IFT140 disease C0265275 CausalMutation 0.82 orphanet , disgenet
Jeune syndrome IFT140 disease C0265275 GeneticVariation 0.82 orphanet , disgenet
Jeune syndrome IFT140 disease C0265275 Biomarker 0.82 orphanet , disgenet
Jeune syndrome IFT140 disease C0265275 GermlineCausalMutation 0.82 orphanet , disgenet
Jeune syndrome TTC21B disease C0265275 GermlineCausalMutation 0.7 orphanet , disgenet
Jeune syndrome TTC21B disease C0265275 GeneticVariation 0.7 orphanet , disgenet
Jeune syndrome TTC21B disease C0265275 CausalMutation 0.7 orphanet , disgenet
Jeune syndrome TTC21B disease C0265275 Biomarker 0.7 orphanet , disgenet
Jeune syndrome DYNC2H1 disease C0265275 Biomarker 0.67 orphanet , disgenet
Jeune syndrome DYNC2H1 disease C0265275 GeneticVariation 0.67 orphanet , disgenet
Jeune syndrome DYNC2H1 disease C0265275 GermlineCausalMutation 0.67 orphanet , disgenet
Jeune syndrome DYNC2H1 disease C0265275 CausalMutation 0.67 orphanet , disgenet
Jeune syndrome WDR60 disease C0265275 CausalMutation 0.62 disgenet
Jeune syndrome WDR34 disease C0265275 Biomarker 0.62 disgenet
Jeune syndrome WDR60 disease C0265275 GeneticVariation 0.62 disgenet
Jeune syndrome WDR34 disease C0265275 CausalMutation 0.62 disgenet
Jeune syndrome WDR60 disease C0265275 Biomarker 0.62 disgenet
Jeune syndrome WDR34 disease C0265275 GermlineCausalMutation 0.62 disgenet
Jeune syndrome WDR60 disease C0265275 GermlineCausalMutation 0.62 disgenet
Jeune syndrome WDR34 disease C0265275 GeneticVariation 0.62 disgenet
Jeune syndrome IFT80 disease C0265275 GeneticVariation 0.61 orphanet , disgenet
Jeune syndrome IFT80 disease C0265275 GermlineCausalMutation 0.61 orphanet , disgenet
Jeune syndrome WDR19 disease C0265275 GermlineCausalMutation 0.61 orphanet , disgenet
Jeune syndrome WDR19 disease C0265275 Biomarker 0.61 orphanet , disgenet
Jeune syndrome WDR19 disease C0265275 CausalMutation 0.61 orphanet , disgenet
Jeune syndrome WDR19 disease C0265275 GeneticVariation 0.61 orphanet , disgenet
Jeune syndrome IFT80 disease C0265275 Biomarker 0.61 orphanet , disgenet
Jeune syndrome IFT80 disease C0265275 CausalMutation 0.61 orphanet , disgenet
Jeune syndrome CEP120 disease C0265275 Biomarker 0.52 orphanet , disgenet
Jeune syndrome CEP120 disease C0265275 GeneticVariation 0.52 orphanet , disgenet
Jeune syndrome CEP120 disease C0265275 GermlineCausalMutation 0.52 orphanet , disgenet
Jeune syndrome IFT172 disease C0265275 GermlineCausalMutation 0.5 orphanet , disgenet
Jeune syndrome IFT172 disease C0265275 Biomarker 0.5 orphanet , disgenet
Jeune syndrome CFAP410 disease C0265275 GeneticVariation 0.32 disgenet
Jeune syndrome CFAP410 disease C0265275 Biomarker 0.32 disgenet
Jeune syndrome DYNC2LI1 disease C0265275 GermlineCausalMutation 0.3 orphanet , disgenet
Jeune syndrome SMARCAD1 disease C0265275 Biomarker 0.2 disgenet
Jeune syndrome KIAA0586 disease C0265275 Biomarker 0.11 orphanet , disgenet
Jeune syndrome IFT81 disease C0265275 GeneticVariation 0.11 disgenet
Jeune syndrome KIAA0753 disease C0265275 GeneticVariation 0.11 disgenet
Jeune syndrome KIAA0586 disease C0265275 GeneticVariation 0.11 orphanet , disgenet
Jeune syndrome WDR35 disease C0265275 CausalMutation 0.11 disgenet
Jeune syndrome WDR35 disease C0265275 GeneticVariation 0.11 disgenet
Jeune syndrome KIAA0753 disease C0265275 CausalMutation 0.11 disgenet
Jeune syndrome FLVCR1 disease C0265275 GeneticVariation 0.1 disgenet
Jeune syndrome TTC21B-AS1 disease C0265275 GeneticVariation 0.1 disgenet
Jeune syndrome TTC21B-AS1 disease C0265275 CausalMutation 0.1 disgenet
Jeune syndrome LBR disease C0265275 CausalMutation 0.1 disgenet
Jeune syndrome TRAF3IP1 disease C0265275 CausalMutation 0.1 disgenet
Jeune syndrome EVC2 disease C0265275 CausalMutation 0.1 disgenet
Jeune syndrome RNF111 disease C0265275 GeneticVariation 0.1 disgenet
Jeune syndrome SLTM disease C0265275 GeneticVariation 0.1 disgenet
Jeune syndrome IMMT disease C0265275 Biomarker 0.01 disgenet
Jeune syndrome ATD disease C0265275 GeneticVariation 0.01 disgenet
Jeune syndrome CSPP1 disease C0265275 GeneticVariation 0.01 orphanet , disgenet
Jeune syndrome TCTEX1D2 disease C0265275 GeneticVariation 0.01 disgenet
Jeune syndrome MATN3 disease C0265275 GeneticVariation 0.01 disgenet
Jeune syndrome UCN2 disease C0265275 Biomarker 0.01 disgenet
Jeune syndrome DYNC2I1 NA C0265275 NA NA orphanet
Jeune syndrome DYNC2I2 NA C0265275 NA NA orphanet
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