| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Xeroderma pigmentosum, variant type | POLH | disease | C1848410 | Biomarker | 0.94 | disgenet |
| Xeroderma pigmentosum, variant type | POLH | disease | C1848410 | CausalMutation | 0.94 | disgenet |
| Xeroderma pigmentosum, variant type | POLH | disease | C1848410 | GermlineCausalMutation | 0.94 | disgenet |
| Xeroderma pigmentosum, variant type | POLH | disease | C1848410 | GeneticVariation | 0.94 | disgenet |
| Xeroderma pigmentosum, variant type | GTPBP2 | disease | C1848410 | CausalMutation | 0.1 | disgenet |
| Xeroderma pigmentosum, variant type | GTPBP2 | disease | C1848410 | GeneticVariation | 0.1 | disgenet |
| Xeroderma pigmentosum, variant type | NR1H2 | disease | C1848410 | Biomarker | 0.01 | disgenet |
| Xeroderma pigmentosum, variant type | POLQ | disease | C1848410 | GeneticVariation | 0.01 | disgenet |
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