| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Combined Saposin Deficiency | PSAP | disease | C2673635 | GermlineCausalMutation | 0.71 | orphanet , disgenet |
| Combined Saposin Deficiency | PSAP | disease | C2673635 | GeneticVariation | 0.71 | orphanet , disgenet |
| Combined Saposin Deficiency | PSAP | disease | C2673635 | Biomarker | 0.71 | orphanet , disgenet |
| Combined Saposin Deficiency | PSAP | disease | C2673635 | CausalMutation | 0.71 | orphanet , disgenet |
| Combined Saposin Deficiency | ASAH1 | disease | C2673635 | AlteredExpression | 0.01 | disgenet |
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