Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Duane Retraction Syndrome MAFB disease C0013261 GeneticVariation 0.72 orphanet , disgenet
Duane Retraction Syndrome MAFB disease C0013261 GermlineCausalMutation 0.72 orphanet , disgenet
Duane Retraction Syndrome MAFB disease C0013261 Biomarker 0.72 orphanet , disgenet
Duane Retraction Syndrome CHN1 disease C0013261 Biomarker 0.7 orphanet , disgenet
Duane Retraction Syndrome CHN1 disease C0013261 GeneticVariation 0.7 orphanet , disgenet
Duane Retraction Syndrome CHN1 disease C0013261 GermlineCausalMutation 0.7 orphanet , disgenet
Duane Retraction Syndrome SALL4 disease C0013261 GeneticVariation 0.5 orphanet , disgenet
Duane Retraction Syndrome SALL4 disease C0013261 Biomarker 0.5 orphanet , disgenet
Duane Retraction Syndrome COL25A1 disease C0013261 GermlineCausalMutation 0.31 disgenet
Duane Retraction Syndrome COL25A1 disease C0013261 GeneticVariation 0.31 disgenet
Duane Retraction Syndrome CDH2 disease C0013261 Biomarker 0.3 disgenet
Duane Retraction Syndrome OPA1 disease C0013261 Biomarker 0.1 disgenet
Duane Retraction Syndrome ARX disease C0013261 Biomarker 0.1 disgenet
Duane Retraction Syndrome PIEZO2 disease C0013261 Biomarker 0.1 disgenet
Duane Retraction Syndrome CSPP1 disease C0013261 Biomarker 0.1 disgenet
Duane Retraction Syndrome KIAA0586 disease C0013261 Biomarker 0.1 disgenet
Duane Retraction Syndrome CCNQ disease C0013261 Biomarker 0.1 disgenet
Duane Retraction Syndrome CREBBP disease C0013261 Biomarker 0.1 disgenet
Duane Retraction Syndrome DNM1L disease C0013261 Biomarker 0.1 disgenet
Duane Retraction Syndrome EP300 disease C0013261 Biomarker 0.1 disgenet
Duane Retraction Syndrome CPA6 disease C0013261 Biomarker 0.03 disgenet
Duane Retraction Syndrome HOXA1 disease C0013261 GeneticVariation 0.03 disgenet
Duane Retraction Syndrome HOXA1 disease C0013261 Biomarker 0.03 disgenet
Duane Retraction Syndrome CPA6 disease C0013261 GeneticVariation 0.03 disgenet
Duane Retraction Syndrome KIF21A disease C0013261 Biomarker 0.02 disgenet
Duane Retraction Syndrome KIF21A disease C0013261 GeneticVariation 0.02 disgenet
Duane Retraction Syndrome WFDC1 disease C0013261 AlteredExpression 0.01 disgenet
Duane Retraction Syndrome DVL1 disease C0013261 GeneticVariation 0.01 disgenet
Duane Retraction Syndrome FOXL2 disease C0013261 GeneticVariation 0.01 disgenet
Duane Retraction Syndrome FOXL2 disease C0013261 Biomarker 0.01 disgenet
Duane Retraction Syndrome TGFB1 disease C0013261 Biomarker 0.01 disgenet
Duane Retraction Syndrome OMA1 disease C0013261 GeneticVariation 0.01 disgenet
Duane Retraction Syndrome ROBO3 disease C0013261 Biomarker 0.01 disgenet
Duane Retraction Syndrome CHD7 disease C0013261 Biomarker 0.01 disgenet
Duane Retraction Syndrome WNT5A disease C0013261 GeneticVariation 0.01 disgenet
Duane Retraction Syndrome EYA1 disease C0013261 Biomarker 0.01 disgenet
Duane Retraction Syndrome HOXD3 disease C0013261 GeneticVariation 0.01 disgenet
Duane Retraction Syndrome DURS1 disease C0013261 GeneticVariation 0.01 disgenet
Duane Retraction Syndrome BHLHE22 disease C0013261 Biomarker 0.01 disgenet
Duane Retraction Syndrome ECEL1 disease C0013261 GeneticVariation 0.01 disgenet
Duane Retraction Syndrome PTPRN2 disease C0013261 AlteredExpression 0.01 disgenet
Duane Retraction Syndrome SALL1 disease C0013261 GeneticVariation 0.01 disgenet
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