Disease Information | ||||||
---|---|---|---|---|---|---|
Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
Griscelli syndrome type 2 | RAB27A | disease | C1868679 | GeneticVariation | 0.8 | orphanet , disgenet |
Griscelli syndrome type 2 | RAB27A | disease | C1868679 | Biomarker | 0.8 | orphanet , disgenet |
Griscelli syndrome type 2 | RAB27A | disease | C1868679 | GermlineCausalMutation | 0.8 | orphanet , disgenet |
Griscelli syndrome type 2 | RAB27A | disease | C1868679 | CausalMutation | 0.8 | orphanet , disgenet |
Griscelli syndrome type 2 | FHL3 | disease | C1868679 | GeneticVariation | 0.02 | disgenet |
Griscelli syndrome type 2 | FHL3 | disease | C1868679 | Biomarker | 0.02 | disgenet |
Griscelli syndrome type 2 | UNC13D | disease | C1868679 | GeneticVariation | 0.01 | disgenet |
Griscelli syndrome type 2 | GLUL | disease | C1868679 | Biomarker | 0.01 | disgenet |
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