Disease Information | ||||||
---|---|---|---|---|---|---|
Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
Hypochondrogenesis | COL2A1 | disease | C0542428 | CausalMutation | 0.66 | orphanet , disgenet |
Hypochondrogenesis | COL2A1 | disease | C0542428 | GermlineCausalMutation | 0.66 | orphanet , disgenet |
Hypochondrogenesis | COL2A1 | disease | C0542428 | Biomarker | 0.66 | orphanet , disgenet |
Hypochondrogenesis | COL2A1 | disease | C0542428 | GeneticVariation | 0.66 | orphanet , disgenet |
Hypochondrogenesis | COL1A2 | disease | C0542428 | AlteredExpression | 0.01 | disgenet |
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