Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Iridogoniodysgenesis with somatic anomalies PITX2 disease C0265341 CausalMutation 0.5 orphanet , disgenet
Iridogoniodysgenesis with somatic anomalies PITX2 disease C0265341 GeneticVariation 0.5 orphanet , disgenet
Iridogoniodysgenesis with somatic anomalies PITX2 disease C0265341 Biomarker 0.5 orphanet , disgenet
Iridogoniodysgenesis with somatic anomalies PITX2 disease C0265341 AlteredExpression 0.5 orphanet , disgenet
Iridogoniodysgenesis with somatic anomalies PITX2 disease C0265341 GermlineCausalMutation 0.5 orphanet , disgenet
Iridogoniodysgenesis with somatic anomalies FOXC1 disease C0265341 GermlineCausalMutation 0.44 orphanet , disgenet
Iridogoniodysgenesis with somatic anomalies FOXC1 disease C0265341 Biomarker 0.44 orphanet , disgenet
Iridogoniodysgenesis with somatic anomalies FOXC1 disease C0265341 GeneticVariation 0.44 orphanet , disgenet
Iridogoniodysgenesis with somatic anomalies COL4A1 disease C0265341 Biomarker 0.3 disgenet
Iridogoniodysgenesis with somatic anomalies PIK3R1 disease C0265341 Biomarker 0.13 disgenet
Iridogoniodysgenesis with somatic anomalies PIK3R1 disease C0265341 GeneticVariation 0.13 disgenet
Iridogoniodysgenesis with somatic anomalies IGF1R disease C0265341 Biomarker 0.1 disgenet
Iridogoniodysgenesis with somatic anomalies WHCR disease C0265341 Biomarker 0.1 disgenet
Iridogoniodysgenesis with somatic anomalies CPLX1 disease C0265341 Biomarker 0.1 disgenet
Iridogoniodysgenesis with somatic anomalies LETM1 disease C0265341 Biomarker 0.1 disgenet
Iridogoniodysgenesis with somatic anomalies CTBP1 disease C0265341 Biomarker 0.1 disgenet
Iridogoniodysgenesis with somatic anomalies PTCH1 disease C0265341 GeneticVariation 0.1 disgenet
Iridogoniodysgenesis with somatic anomalies NSD2 disease C0265341 Biomarker 0.1 disgenet
Iridogoniodysgenesis with somatic anomalies ADAMTSL1 disease C0265341 Biomarker 0.1 disgenet
Iridogoniodysgenesis with somatic anomalies FGFRL1 disease C0265341 Biomarker 0.1 disgenet
Iridogoniodysgenesis with somatic anomalies EGF disease C0265341 GeneticVariation 0.05 disgenet
Iridogoniodysgenesis with somatic anomalies EGF disease C0265341 Biomarker 0.05 disgenet
Iridogoniodysgenesis with somatic anomalies PAX6 disease C0265341 Biomarker 0.02 disgenet
Iridogoniodysgenesis with somatic anomalies PAX6 disease C0265341 AlteredExpression 0.02 disgenet
Iridogoniodysgenesis with somatic anomalies BARX2 disease C0265341 Biomarker 0.01 disgenet
Iridogoniodysgenesis with somatic anomalies PAX2 disease C0265341 Biomarker 0.01 disgenet
Iridogoniodysgenesis with somatic anomalies RIEG2 disease C0265341 GeneticVariation 0.01 disgenet
Iridogoniodysgenesis with somatic anomalies COL1A1 disease C0265341 GeneticVariation 0.01 disgenet
Iridogoniodysgenesis with somatic anomalies TGFA disease C0265341 Biomarker 0.01 disgenet
Iridogoniodysgenesis with somatic anomalies PLOD1 disease C0265341 AlteredExpression 0.01 disgenet
Iridogoniodysgenesis with somatic anomalies DLX2 disease C0265341 GeneticVariation 0.01 disgenet
Iridogoniodysgenesis with somatic anomalies CYP1B1 disease C0265341 GeneticVariation 0.01 disgenet
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