Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Syndrome, Waardenburg's PAX3 disease C3266898 AlteredExpression 0.8 disgenet
Syndrome, Waardenburg's PAX3 disease C3266898 Biomarker 0.8 disgenet
Syndrome, Waardenburg's PAX3 disease C3266898 CausalMutation 0.8 disgenet
Syndrome, Waardenburg's PAX3 disease C3266898 GeneticVariation 0.8 disgenet
Syndrome, Waardenburg's MITF disease C3266898 Biomarker 0.7 disgenet
Syndrome, Waardenburg's MITF disease C3266898 GeneticVariation 0.7 disgenet
Syndrome, Waardenburg's MITF disease C3266898 CausalMutation 0.7 disgenet
Syndrome, Waardenburg's MITF disease C3266898 GermlineCausalMutation 0.7 disgenet
Syndrome, Waardenburg's MITF disease C3266898 AlteredExpression 0.7 disgenet
Syndrome, Waardenburg's SOX10 disease C3266898 AlteredExpression 0.6 disgenet
Syndrome, Waardenburg's SOX10 disease C3266898 GeneticVariation 0.6 disgenet
Syndrome, Waardenburg's SOX10 disease C3266898 GermlineCausalMutation 0.6 disgenet
Syndrome, Waardenburg's SOX10 disease C3266898 Biomarker 0.6 disgenet
Syndrome, Waardenburg's EDN3 disease C3266898 GeneticVariation 0.54 disgenet
Syndrome, Waardenburg's EDN3 disease C3266898 Biomarker 0.54 disgenet
Syndrome, Waardenburg's EDN3 disease C3266898 GermlineCausalMutation 0.54 disgenet
Syndrome, Waardenburg's EDNRB disease C3266898 GermlineCausalMutation 0.53 disgenet
Syndrome, Waardenburg's EDNRB disease C3266898 GeneticVariation 0.53 disgenet
Syndrome, Waardenburg's EDNRB disease C3266898 Biomarker 0.53 disgenet
Syndrome, Waardenburg's SNAI2 disease C3266898 Biomarker 0.32 disgenet
Syndrome, Waardenburg's AEBP2 disease C3266898 Biomarker 0.2 disgenet
Syndrome, Waardenburg's GJB2 disease C3266898 GeneticVariation 0.02 disgenet
Syndrome, Waardenburg's GJB2 disease C3266898 Biomarker 0.02 disgenet
Syndrome, Waardenburg's COL4A5 disease C3266898 Biomarker 0.01 disgenet
Syndrome, Waardenburg's KMT2D disease C3266898 Biomarker 0.01 disgenet
Syndrome, Waardenburg's EPHA4 disease C3266898 GeneticVariation 0.01 disgenet
Syndrome, Waardenburg's ONECUT2 disease C3266898 AlteredExpression 0.01 disgenet
Syndrome, Waardenburg's TYR disease C3266898 Biomarker 0.01 disgenet
Syndrome, Waardenburg's ABO disease C3266898 GeneticVariation 0.01 disgenet
Syndrome, Waardenburg's PTPN11 disease C3266898 Biomarker 0.01 disgenet
Syndrome, Waardenburg's PAX6 disease C3266898 Biomarker 0.01 disgenet
Syndrome, Waardenburg's CHD7 disease C3266898 Biomarker 0.01 disgenet
Syndrome, Waardenburg's RET disease C3266898 GeneticVariation 0.01 disgenet
Syndrome, Waardenburg's ALPP disease C3266898 Biomarker 0.01 disgenet
Syndrome, Waardenburg's KIT disease C3266898 GeneticVariation 0.01 disgenet
Syndrome, Waardenburg's ASS1 disease C3266898 GeneticVariation 0.01 disgenet
click here to return to the previous page