Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Frontometaphyseal dysplasia FLNA disease C0265293 GeneticVariation 0.7 orphanet , disgenet
Frontometaphyseal dysplasia FLNA disease C0265293 GermlineCausalMutation 0.7 orphanet , disgenet
Frontometaphyseal dysplasia FLNA disease C0265293 Biomarker 0.7 orphanet , disgenet
Frontometaphyseal dysplasia MAP3K7 disease C0265293 Biomarker 0.61 orphanet , disgenet
Frontometaphyseal dysplasia MAP3K7 disease C0265293 GeneticVariation 0.61 orphanet , disgenet
Frontometaphyseal dysplasia MAP3K7 disease C0265293 GermlineCausalMutation 0.61 orphanet , disgenet
Frontometaphyseal dysplasia TAB2 disease C0265293 GeneticVariation 0.01 disgenet
Frontometaphyseal dysplasia MADD disease C0265293 GeneticVariation 0.01 disgenet
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