Disease Information | ||||||
---|---|---|---|---|---|---|
Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type | COL2A1 | disease | C1835437 | GermlineCausalMutation | 0.73 | disgenet |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type | COL2A1 | disease | C1835437 | Biomarker | 0.73 | disgenet |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type | COL2A1 | disease | C1835437 | CausalMutation | 0.73 | disgenet |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type | COL2A1 | disease | C1835437 | GeneticVariation | 0.73 | disgenet |
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