Disease Information | ||||||
---|---|---|---|---|---|---|
Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
Epiphyseal dysplasia, multiple, 5 | MATN3 | disease | C1846843 | Biomarker | 0.91 | orphanet , disgenet |
Epiphyseal dysplasia, multiple, 5 | MATN3 | disease | C1846843 | GeneticVariation | 0.91 | orphanet , disgenet |
Epiphyseal dysplasia, multiple, 5 | MATN3 | disease | C1846843 | CausalMutation | 0.91 | orphanet , disgenet |
Epiphyseal dysplasia, multiple, 5 | XBP1 | disease | C1846843 | GeneticVariation | 0.01 | disgenet |
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