Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Acrocephalopolysyndactyly Type II MEGF8 disease C1275078 GeneticVariation 0.82 orphanet , disgenet
Acrocephalopolysyndactyly Type II MEGF8 disease C1275078 GermlineCausalMutation 0.82 orphanet , disgenet
Acrocephalopolysyndactyly Type II MEGF8 disease C1275078 Biomarker 0.82 orphanet , disgenet
Acrocephalopolysyndactyly Type II RAB23 disease C1275078 CausalMutation 0.75 orphanet , disgenet
Acrocephalopolysyndactyly Type II RAB23 disease C1275078 GeneticVariation 0.75 orphanet , disgenet
Acrocephalopolysyndactyly Type II RAB23 disease C1275078 GermlineCausalMutation 0.75 orphanet , disgenet
Acrocephalopolysyndactyly Type II RAB23 disease C1275078 Biomarker 0.75 orphanet , disgenet
Acrocephalopolysyndactyly Type II ZC4H2 disease C1275078 Biomarker 0.01 disgenet
Acrocephalopolysyndactyly Type II AASDHPPT disease C1275078 GeneticVariation 0.01 disgenet
Acrocephalopolysyndactyly Type II ATRX disease C1275078 Biomarker 0.01 disgenet
Acrocephalopolysyndactyly Type II ARL13B disease C1275078 Biomarker 0.01 disgenet
Acrocephalopolysyndactyly Type II GLI3 disease C1275078 GeneticVariation 0.01 disgenet
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