| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Glycogen Storage Disease, Type IXD | PHKA1 | disease | C1845151 | GermlineCausalMutation | 0.9 | orphanet , disgenet |
| Glycogen Storage Disease, Type IXD | PHKA1 | disease | C1845151 | CausalMutation | 0.9 | orphanet , disgenet |
| Glycogen Storage Disease, Type IXD | PHKA1 | disease | C1845151 | Biomarker | 0.9 | orphanet , disgenet |
| Glycogen Storage Disease, Type IXD | PHKA1 | disease | C1845151 | GeneticVariation | 0.9 | orphanet , disgenet |
| Glycogen Storage Disease, Type IXD | PHKG1 | disease | C1845151 | GeneticVariation | 0.3 | orphanet , disgenet |
| Glycogen Storage Disease, Type IXD | PHKB | NA | C1845151 | NA | NA | orphanet |
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