Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Thumb deformity RPL11 phenotype C0575897 Biomarker 0.3 disgenet
Thumb deformity RPL5 phenotype C0575897 Biomarker 0.3 disgenet
Thumb deformity KLHL7 phenotype C0575897 GeneticVariation 0.1 disgenet
Thumb deformity CREBBP phenotype C0575897 GeneticVariation 0.1 disgenet
Thumb deformity PTPN11 phenotype C0575897 CausalMutation 0.1 disgenet
Thumb deformity DHCR7 phenotype C0575897 CausalMutation 0.1 disgenet
Thumb deformity KMT2A phenotype C0575897 CausalMutation 0.1 disgenet
Thumb deformity CTNNB1 phenotype C0575897 GeneticVariation 0.1 disgenet
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