| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Adenine phosphoribosyltransferase deficiency | APRT | disease | C0268120 | GeneticVariation | 1 | orphanet , disgenet |
| Adenine phosphoribosyltransferase deficiency | APRT | disease | C0268120 | CausalMutation | 1 | orphanet , disgenet |
| Adenine phosphoribosyltransferase deficiency | APRT | disease | C0268120 | GermlineCausalMutation | 1 | orphanet , disgenet |
| Adenine phosphoribosyltransferase deficiency | APRT | disease | C0268120 | AlteredExpression | 1 | orphanet , disgenet |
| Adenine phosphoribosyltransferase deficiency | APRT | disease | C0268120 | Biomarker | 1 | orphanet , disgenet |
| Adenine phosphoribosyltransferase deficiency | DLD | disease | C0268120 | GeneticVariation | 0.01 | disgenet |
| Adenine phosphoribosyltransferase deficiency | XDH | disease | C0268120 | GeneticVariation | 0.01 | disgenet |
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