Disease Information | ||||||
---|---|---|---|---|---|---|
Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
Skin Fragility-Woolly Hair Syndrome | DSP | disease | C1843292 | Biomarker | 0.72 | orphanet , disgenet |
Skin Fragility-Woolly Hair Syndrome | DSP | disease | C1843292 | CausalMutation | 0.72 | orphanet , disgenet |
Skin Fragility-Woolly Hair Syndrome | DSP | disease | C1843292 | GeneticVariation | 0.72 | orphanet , disgenet |
Skin Fragility-Woolly Hair Syndrome | DSP | disease | C1843292 | GermlineCausalMutation | 0.72 | orphanet , disgenet |
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