| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Refsum Disease | PHYH | disease | C0034960 | Biomarker | 1 | orphanet , disgenet |
| Refsum Disease | PHYH | disease | C0034960 | CausalMutation | 1 | orphanet , disgenet |
| Refsum Disease | PHYH | disease | C0034960 | GeneticVariation | 1 | orphanet , disgenet |
| Refsum Disease | PHYH | disease | C0034960 | AlteredExpression | 1 | orphanet , disgenet |
| Refsum Disease | PEX7 | disease | C0034960 | CausalMutation | 0.66 | orphanet , disgenet |
| Refsum Disease | PEX7 | disease | C0034960 | AlteredExpression | 0.66 | orphanet , disgenet |
| Refsum Disease | PEX7 | disease | C0034960 | GeneticVariation | 0.66 | orphanet , disgenet |
| Refsum Disease | PEX7 | disease | C0034960 | Biomarker | 0.66 | orphanet , disgenet |
| Refsum Disease | TTR | disease | C0034960 | GeneticVariation | 0.01 | disgenet |
| Refsum Disease | CAT | disease | C0034960 | GeneticVariation | 0.01 | disgenet |
| Refsum Disease | S100A7 | disease | C0034960 | AlteredExpression | 0.01 | disgenet |
| Refsum Disease | ALB | disease | C0034960 | Biomarker | 0.01 | disgenet |
| Refsum Disease | PHYHIP | disease | C0034960 | Biomarker | 0.01 | disgenet |
| Refsum Disease | SCP2 | disease | C0034960 | Biomarker | 0.01 | disgenet |
| Refsum Disease | HSD17B4 | disease | C0034960 | Biomarker | 0.01 | disgenet |
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