Disease Information | ||||||
---|---|---|---|---|---|---|
Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
Tietz syndrome | MITF | disease | C0391816 | Biomarker | 0.94 | orphanet , disgenet |
Tietz syndrome | MITF | disease | C0391816 | GermlineCausalMutation | 0.94 | orphanet , disgenet |
Tietz syndrome | MITF | disease | C0391816 | CausalMutation | 0.94 | orphanet , disgenet |
Tietz syndrome | MITF | disease | C0391816 | GeneticVariation | 0.94 | orphanet , disgenet |
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