Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Goldenhar Syndrome MYT1 disease C0265240 GermlineCausalMutation 0.3 disgenet
Goldenhar Syndrome TBC1D20 disease C0265240 Biomarker 0.2 disgenet
Goldenhar Syndrome ZIC3 disease C0265240 Biomarker 0.2 disgenet
Goldenhar Syndrome RAB18 disease C0265240 Biomarker 0.2 disgenet
Goldenhar Syndrome ARID3B disease C0265240 GeneticVariation 0.1 disgenet
Goldenhar Syndrome PARD3B disease C0265240 GeneticVariation 0.1 disgenet
Goldenhar Syndrome FRMD4A disease C0265240 GeneticVariation 0.1 disgenet
Goldenhar Syndrome NID2 disease C0265240 GeneticVariation 0.1 disgenet
Goldenhar Syndrome AGAP1 disease C0265240 GeneticVariation 0.1 disgenet
Goldenhar Syndrome SHROOM3 disease C0265240 GeneticVariation 0.1 disgenet
Goldenhar Syndrome OTX2 disease C0265240 Biomarker 0.02 disgenet
Goldenhar Syndrome SALL1 disease C0265240 GeneticVariation 0.02 disgenet
Goldenhar Syndrome PART1 disease C0265240 GeneticVariation 0.02 disgenet
Goldenhar Syndrome SIX1 disease C0265240 GeneticVariation 0.01 disgenet
Goldenhar Syndrome FGF8 disease C0265240 AlteredExpression 0.01 disgenet
Goldenhar Syndrome COX8A disease C0265240 Biomarker 0.01 disgenet
Goldenhar Syndrome CHD7 disease C0265240 GeneticVariation 0.01 disgenet
Goldenhar Syndrome EFTUD2 disease C0265240 GeneticVariation 0.01 disgenet
Goldenhar Syndrome TSC1 disease C0265240 GeneticVariation 0.01 disgenet
Goldenhar Syndrome WNT5B disease C0265240 Biomarker 0.01 disgenet
Goldenhar Syndrome SMARCB1 disease C0265240 GeneticVariation 0.01 disgenet
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