Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
UV-Sensitive Syndrome UVSSA disease C1833561 GeneticVariation 0.66 orphanet , disgenet
UV-Sensitive Syndrome UVSSA disease C1833561 GermlineCausalMutation 0.66 orphanet , disgenet
UV-Sensitive Syndrome UVSSA disease C1833561 Biomarker 0.66 orphanet , disgenet
UV-Sensitive Syndrome ERCC6 disease C1833561 Biomarker 0.65 orphanet , disgenet
UV-Sensitive Syndrome ERCC6 disease C1833561 GermlineCausalMutation 0.65 orphanet , disgenet
UV-Sensitive Syndrome ERCC6 disease C1833561 GeneticVariation 0.65 orphanet , disgenet
UV-Sensitive Syndrome ERCC8 disease C1833561 Biomarker 0.62 orphanet , disgenet
UV-Sensitive Syndrome ERCC8 disease C1833561 GeneticVariation 0.62 orphanet , disgenet
UV-Sensitive Syndrome ERCC8 disease C1833561 GermlineCausalMutation 0.62 orphanet , disgenet
UV-Sensitive Syndrome CSH1 disease C1833561 Biomarker 0.05 disgenet
UV-Sensitive Syndrome CSH1 disease C1833561 GeneticVariation 0.05 disgenet
UV-Sensitive Syndrome CSH2 disease C1833561 Biomarker 0.05 disgenet
UV-Sensitive Syndrome CSH2 disease C1833561 GeneticVariation 0.05 disgenet
UV-Sensitive Syndrome NR1H2 disease C1833561 Biomarker 0.03 disgenet
UV-Sensitive Syndrome TP53 disease C1833561 Biomarker 0.02 disgenet
UV-Sensitive Syndrome TP53 disease C1833561 GeneticVariation 0.02 disgenet
UV-Sensitive Syndrome ERCC5 disease C1833561 GeneticVariation 0.01 disgenet
UV-Sensitive Syndrome DHFR disease C1833561 Biomarker 0.01 disgenet
UV-Sensitive Syndrome ERCC2 disease C1833561 GeneticVariation 0.01 disgenet
UV-Sensitive Syndrome HSPA9 disease C1833561 GeneticVariation 0.01 disgenet
UV-Sensitive Syndrome NEFM disease C1833561 Biomarker 0.01 disgenet
UV-Sensitive Syndrome ERCC3 disease C1833561 GeneticVariation 0.01 disgenet
UV-Sensitive Syndrome AFP disease C1833561 Biomarker 0.01 disgenet
UV-Sensitive Syndrome USP7 disease C1833561 Biomarker 0.01 disgenet
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