Disease Information | ||||||
---|---|---|---|---|---|---|
Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
Griscelli syndrome type 1 | MYO5A | disease | C1859194 | CausalMutation | 0.9 | orphanet , disgenet |
Griscelli syndrome type 1 | MYO5A | disease | C1859194 | Biomarker | 0.9 | orphanet , disgenet |
Griscelli syndrome type 1 | MYO5A | disease | C1859194 | GermlineCausalMutation | 0.9 | orphanet , disgenet |
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