Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Nance-Horan syndrome NHS disease C0796085 Biomarker 1 orphanet , disgenet
Nance-Horan syndrome NHS disease C0796085 GermlineCausalMutation 1 orphanet , disgenet
Nance-Horan syndrome NHS disease C0796085 GeneticVariation 1 orphanet , disgenet
Nance-Horan syndrome NHS disease C0796085 CausalMutation 1 orphanet , disgenet
Nance-Horan syndrome CDKL5 disease C0796085 GeneticVariation 0.02 disgenet
Nance-Horan syndrome RAI2 disease C0796085 GeneticVariation 0.02 disgenet
Nance-Horan syndrome AMELX disease C0796085 Biomarker 0.01 disgenet
Nance-Horan syndrome BRCA1 disease C0796085 GeneticVariation 0.01 disgenet
Nance-Horan syndrome ITGB6 disease C0796085 GeneticVariation 0.01 disgenet
Nance-Horan syndrome MTX1 disease C0796085 Biomarker 0.01 disgenet
Nance-Horan syndrome MALAT1 disease C0796085 Biomarker 0.01 disgenet
Nance-Horan syndrome PPEF1 disease C0796085 GeneticVariation 0.01 disgenet
Nance-Horan syndrome SLC19A1 disease C0796085 Biomarker 0.01 disgenet
Nance-Horan syndrome RBBP7 disease C0796085 GeneticVariation 0.01 disgenet
Nance-Horan syndrome HSF1 disease C0796085 Biomarker 0.01 disgenet
Nance-Horan syndrome NHSL1 disease C0796085 Biomarker 0.01 disgenet
Nance-Horan syndrome ALB disease C0796085 Biomarker 0.01 disgenet
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