Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Pendred syndrome SLC26A4 disease C0271829 CausalMutation 1 orphanet , disgenet
Pendred syndrome SLC26A4 disease C0271829 AlteredExpression 1 orphanet , disgenet
Pendred syndrome SLC26A4 disease C0271829 GeneticVariation 1 orphanet , disgenet
Pendred syndrome SLC26A4 disease C0271829 Biomarker 1 orphanet , disgenet
Pendred syndrome FOXI1 disease C0271829 CausalMutation 0.63 orphanet , disgenet
Pendred syndrome FOXI1 disease C0271829 GeneticVariation 0.63 orphanet , disgenet
Pendred syndrome FOXI1 disease C0271829 Biomarker 0.63 orphanet , disgenet
Pendred syndrome KCNJ10 disease C0271829 GeneticVariation 0.34 orphanet , disgenet
Pendred syndrome KCNJ10 disease C0271829 Biomarker 0.34 orphanet , disgenet
Pendred syndrome PTGDS disease C0271829 Biomarker 0.1 disgenet
Pendred syndrome PTGDS disease C0271829 GeneticVariation 0.1 disgenet
Pendred syndrome SLC26A4-AS1 disease C0271829 CausalMutation 0.1 disgenet
Pendred syndrome PTGDS disease C0271829 AlteredExpression 0.1 disgenet
Pendred syndrome SLC26A4-AS1 disease C0271829 GeneticVariation 0.1 disgenet
Pendred syndrome TPO disease C0271829 AlteredExpression 0.08 disgenet
Pendred syndrome TPO disease C0271829 Biomarker 0.08 disgenet
Pendred syndrome TPO disease C0271829 GeneticVariation 0.08 disgenet
Pendred syndrome ALDH7A1 disease C0271829 Biomarker 0.05 disgenet
Pendred syndrome ALDH7A1 disease C0271829 GeneticVariation 0.05 disgenet
Pendred syndrome MPZL2 disease C0271829 Biomarker 0.05 disgenet
Pendred syndrome MPZL2 disease C0271829 GeneticVariation 0.05 disgenet
Pendred syndrome SLC26A2 disease C0271829 Biomarker 0.04 disgenet
Pendred syndrome TG disease C0271829 AlteredExpression 0.04 disgenet
Pendred syndrome SLC26A2 disease C0271829 GeneticVariation 0.04 disgenet
Pendred syndrome TG disease C0271829 GeneticVariation 0.04 disgenet
Pendred syndrome TG disease C0271829 Biomarker 0.04 disgenet
Pendred syndrome SLC5A5 disease C0271829 Biomarker 0.03 disgenet
Pendred syndrome SLC26A3 disease C0271829 GeneticVariation 0.03 disgenet
Pendred syndrome SLC26A3 disease C0271829 Biomarker 0.03 disgenet
Pendred syndrome DUOX2 disease C0271829 GeneticVariation 0.03 disgenet
Pendred syndrome DUOX2 disease C0271829 AlteredExpression 0.03 disgenet
Pendred syndrome SLC5A5 disease C0271829 GeneticVariation 0.03 disgenet
Pendred syndrome GJB2 disease C0271829 GeneticVariation 0.02 disgenet
Pendred syndrome TSHR disease C0271829 Biomarker 0.02 disgenet
Pendred syndrome SLC26A5 disease C0271829 Biomarker 0.02 disgenet
Pendred syndrome TSHR disease C0271829 GeneticVariation 0.02 disgenet
Pendred syndrome HSPA8 disease C0271829 Biomarker 0.01 disgenet
Pendred syndrome F11 disease C0271829 GeneticVariation 0.01 disgenet
Pendred syndrome SLC5A8 disease C0271829 GeneticVariation 0.01 disgenet
Pendred syndrome PAX8 disease C0271829 AlteredExpression 0.01 disgenet
Pendred syndrome CLPP disease C0271829 GeneticVariation 0.01 disgenet
Pendred syndrome PTCRA disease C0271829 GeneticVariation 0.01 disgenet
Pendred syndrome TBC1D24 disease C0271829 GeneticVariation 0.01 disgenet
Pendred syndrome NKX2-1 disease C0271829 AlteredExpression 0.01 disgenet
Pendred syndrome LYPD1 disease C0271829 GeneticVariation 0.01 disgenet
Pendred syndrome SLC13A2 disease C0271829 Biomarker 0.01 disgenet
Pendred syndrome DUOX1 disease C0271829 AlteredExpression 0.01 disgenet
Pendred syndrome SLC13A5 disease C0271829 Biomarker 0.01 disgenet
Pendred syndrome TGFB1 disease C0271829 Biomarker 0.01 disgenet
Pendred syndrome PPP1R2C disease C0271829 Biomarker 0.01 disgenet
Pendred syndrome OTOF disease C0271829 GeneticVariation 0.01 disgenet
Pendred syndrome THRB disease C0271829 GeneticVariation 0.01 disgenet
Pendred syndrome BCHE disease C0271829 Biomarker 0.01 disgenet
Pendred syndrome DNAJC14 disease C0271829 Biomarker 0.01 disgenet
Pendred syndrome DFNB14 disease C0271829 GeneticVariation 0.01 disgenet
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