| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy | PCYT1A | disease | C1837073 | Biomarker | 0.71 | disgenet |
| Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy | PCYT1A | disease | C1837073 | CausalMutation | 0.71 | disgenet |
| Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy | PCYT1A | disease | C1837073 | GermlineCausalMutation | 0.71 | disgenet |
| Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy | PCYT1A | disease | C1837073 | GeneticVariation | 0.71 | disgenet |
| Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy | SLC51A | disease | C1837073 | CausalMutation | 0.1 | disgenet |
| click here to return to the previous page | ||||||