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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