Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Craniofacial deafness hand syndrome PAX3 disease C1852510 GermlineCausalMutation 0.71 orphanet , disgenet
Craniofacial deafness hand syndrome PAX3 disease C1852510 CausalMutation 0.71 orphanet , disgenet
Craniofacial deafness hand syndrome PAX3 disease C1852510 GeneticVariation 0.71 orphanet , disgenet
Craniofacial deafness hand syndrome PAX3 disease C1852510 Biomarker 0.71 orphanet , disgenet
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